Fetal anomalies (Version: )

Relevant disorders: R21, Fetal anomalies with a likely genetic cause, Fetal anomalies with a likely genetic cause - non urgent, R412
Signed off date: 4 Oct 2024
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
1417 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalOtherN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name, gene-checked
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherwatchlist
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, watchlist
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherwatchlist
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Xp21.2 region (includes NR0B1) Gain
region
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Ato_be_confirmed_NHSE
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/Awatchlist
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Ato_be_confirmed_NHSE, Skewed X-inactivation
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ1_24_MOI
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Apolygenic
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AQ2_24_demote_red, Q2_24_expert_review
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-long-non-coding
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-small-nuclear, gene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-small-nuclear
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ1_24_MOI
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/APseudoautosomal region 1
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism, somatic
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-small-nucleolar
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Ay-chromosome
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherwatchlist
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A