"3billion"[submitter] AND "TMC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4103	NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)	TMC1 (R34*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 36 +3 more	GPathogenic
Select item 1333338	NM_138691.3(TMC1):c.505C>G (p.Pro169Ala)	TMC1 (P169A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 1333355	NM_138691.3(TMC1):c.545G>T (p.Gly182Val)	TMC1 (G182V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 1333686	NM_138691.3(TMC1):c.564C>A (p.Tyr188Ter)	TMC1 (Y188*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 7	GLikely pathogenic
Select item 562091	NM_138691.3(TMC1):c.1220dup (p.Asn407fs)	TMC1 (N407fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 1333340	NM_138691.3(TMC1):c.1975C>A (p.Pro659Thr)	TMC1 (P659T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36	GUncertain significance

ClinVar