"University of Washington Center for Mendelian Genomics, University of - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44754	NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	GJB2 (V153I)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome +10 more	GBenign/Likely benign
Select item 560889	NM_004004.6(GJB2):c.355G>T (p.Glu119Ter)	GJB2 (E119*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 17001	NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	GJB2 (W77*)	Single nucleotide variant (nonsense)	Rare genetic deafness +10 more	GPathogenic
Select item 17027	NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	GJB2 (R75Q)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic
Select item 17011	NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)	GJB2 (R75W)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic
Select item 17002	NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	GJB2 (W24*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	GJB2-related condition +15 more	GPathogenic/Likely pathogenic

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