C2675237[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1190864	NM_001110219.3(GJB6):c.*227dup	GJB6	Duplication (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GBenign/Likely benign
Select item 881195	NM_001110219.3(GJB6):c.396G>A (p.Leu132=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +5 more	GBenign/Likely benign
Select item 225377	NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)	GJB6 (E101K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GConflicting classifications of pathogenicity
Select item 5545	NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)	GJB6 (A88V)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +4 more	GPathogenic
Select item 426683	NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe)	GJB6 (C60F)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1303411	NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg)	GJB6 (G21R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +5 more	GUncertain significance
Select item 5544	NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)	GJB6 (G11R)	Single nucleotide variant (missense variant)	GJB6-related disorder +6 more	GPathogenic

ClinVar