C1832978[trait identifier] AND "Laboratory of Prof. Karen Avraham, Tel - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 236041	NM_138691.3(TMC1):c.15dup (p.Val6fs)	TMC1 (V6fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 236042	NM_138691.3(TMC1):c.229del (p.Arg77fs)	TMC1 (R77fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 228408	NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro)	TMC1 (S647P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 424814	NM_138691.2(TMC1):c.[1210T>C];[1939T>C]			Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 424813	NM_138691.2(TMC1):c.[1165C>T];[1939T>C]			Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 424812	NM_138691.2(TMC1):c.[1810C>T];[1939T>C]			Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 424807	NM_138691.2(TMC1):c.[1810C>T];[674C>T]			Autosomal recessive nonsyndromic hearing loss 7	GPathogenic

ClinVar