"GeneReviews"[submitter] AND "GJB6"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5546	del(GJB6-D13S1830)	CRYL1, GJB2 +15 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1B +2 more	GPathogenic
Select item 424855	NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)	GJB6 (A40V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 5543	NM_001110219.3(GJB6):c.14C>T (p.Thr5Met)	GJB6 (T5M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B	GPathogenic

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