Related gene-specific medical variations for Gene (Select 10006) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1196649	NM_001012750.3(ABI1):c.*1959del	ABI1, PDSS1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 879951	NM_001012750.3(ABI1):c.*1950T>C	ABI1, PDSS1	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 299708	NM_001012750.3(ABI1):c.*1833T>A	ABI1, PDSS1	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GLikely benign
Select item 299707	NM_001012750.3(ABI1):c.*1835A>G	ABI1, PDSS1	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 299706	NM_001012750.3(ABI1):c.*1940A>C	ABI1, PDSS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign

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