Related gene-specific medical variations for Gene (Select 2697) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235928	NM_000165.5(GJA1):c.179G>C (p.Gly60Ala)	GJA1 (G60A)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 3064131	NM_000165.5(GJA1):c.690T>G (p.Tyr230Ter)	GJA1 (Y230*)	Single nucleotide variant (nonsense)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 1330230	NM_000165.5(GJA1):c.436_441del (p.Lys146_Met147del)	GJA1	Deletion (inframe_deletion)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 1184546	NM_000165.5(GJA1):c.602C>A (p.Ser201Tyr)	GJA1 (S201Y)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 989202	NM_000165.5(GJA1):c.93T>G (p.Ile31Met)	GJA1 (I31M)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 931993	NM_000165.5(GJA1):c.396_398del (p.Ile132_Lys133delinsMet)	GJA1	Deletion (inframe_indel)	Atrioventricular septal defect and common atrioventricular junction	GLikely pathogenic

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