"GJC3-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055375	NM_181538.3(GJC3):c.800C>T (p.Ala267Val)	GJC3 (A267V)	Single nucleotide variant (missense variant)	GJC3-related disorder	GBenign
Select item 3039436	NM_181538.3(GJC3):c.597C>A (p.Ser199Arg)	GJC3 (S199R)	Single nucleotide variant (missense variant)	GJC3-related disorder	GLikely benign
Select item 3057270	NM_181538.3(GJC3):c.569T>A (p.Ile190Asn)	GJC3 (I190N)	Single nucleotide variant (missense variant)	GJC3-related disorder	GLikely benign
Select item 3040130	NM_181538.3(GJC3):c.210C>G (p.Pro70=)	GJC3	Single nucleotide variant (synonymous variant)	GJC3-related disorder	GLikely benign
Select item 3036184	NM_181538.3(GJC3):c.56C>A (p.Pro19His)	GJC3 (P19H)	Single nucleotide variant (missense variant)	GJC3-related disorder	GLikely benign
Select item 3052339	NM_181538.3(GJC3):c.13T>G (p.Phe5Val)	GJC3 (F5V)	Single nucleotide variant (missense variant)	GJC3-related disorder	GLikely benign

ClinVar