"GJA3-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045475	NM_021954.4(GJA3):c.*5C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	GJA3-related disorder	GLikely benign
Select item 798236	NM_021954.4(GJA3):c.1060C>G (p.Pro354Ala)	GJA3 (P354A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2065602	NM_021954.4(GJA3):c.905T>G (p.Leu302Arg)	GJA3 (L302R)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +2 more	GUncertain significance
Select item 468543	NM_021954.4(GJA3):c.771C>A (p.Pro257=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types +1 more	GBenign/Likely benign
Select item 3043648	NM_021954.4(GJA3):c.376C>G (p.Pro126Ala)	GJA3 (P126A)	Single nucleotide variant (missense variant)	GJA3-related disorder	GUncertain significance
Select item 3055103	NM_021954.4(GJA3):c.323_326del (p.Glu108fs)	GJA3 (E108fs)	Microsatellite (frameshift variant)	GJA3-related disorder	GUncertain significance
Select item 3030788	NM_021954.4(GJA3):c.297C>G (p.Ile99Met)	GJA3 (I99M)	Single nucleotide variant (missense variant)	GJA3-related disorder	GUncertain significance
Select item 311349	NM_021954.4(GJA3):c.84G>A (p.Val28=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types +1 more	GBenign/Likely benign

ClinVar