"PreventionGenetics, part of Exact Sciences"[submitter] AND "GJB6"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45505	NM_001110219.3(GJB6):c.607A>G (p.Met203Val)	GJB6 (M203V)	Single nucleotide variant (missense variant)	GJB6-related disorder +5 more	GBenign/Likely benign
Select item 45502	NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)	GJB6 (N159S)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +6 more	GBenign/Likely benign
Select item 311381	NM_001110219.3(GJB6):c.405G>A (p.Thr135=)	GJB6	Single nucleotide variant (synonymous variant)	GJB6-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 179782	NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu)	GJB6 (P70L)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +3 more	GUncertain significance
Select item 196442	NM_001110219.3(GJB6):c.177A>G (p.Gly59=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 498602	NM_001110219.3(GJB6):c.111G>A (p.Val37=)	GJB6	Single nucleotide variant (synonymous variant)	GJB6-related disorder +5 more	GConflicting classifications of pathogenicity

ClinVar