ClinVar for MedGen (Select 322084) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335921	NM_138691.3(TMC1):c.211_218del (p.Arg71fs)	TMC1 (R71fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 7	GLikely pathogenic
Select item 3235693	NM_138691.3(TMC1):c.1641A>G (p.Ala547=)	TMC1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 3066070	NM_138691.3(TMC1):c.1566+4A>G	TMC1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 3024460	NM_138691.3(TMC1):c.871del (p.Val291fs)	TMC1 (V291fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 2671693	NM_138691.3(TMC1):c.859T>C (p.Tyr287His)	TMC1 (Y287H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 2499514	NM_138691.3(TMC1):c.64+2T>A	TMC1	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GPathogenic/Likely pathogenic
Select item 1799540	NM_138691.3(TMC1):c.1250G>A (p.Gly417Glu)	TMC1 (G417E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 1799539	NM_138691.3(TMC1):c.1750C>T (p.Gln584Ter)	TMC1 (Q584*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1339127	NM_138691.3(TMC1):c.2004T>G (p.Ser668Arg)	TMC1 (S668R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 1334112	NM_138691.3(TMC1):c.1763+1G>T	TMC1	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 7	GLikely pathogenic
Select item 1334111	NM_138691.3(TMC1):c.1184del (p.Gln395fs)	TMC1 (Q395fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
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 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 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 1297078	NM_138691.3(TMC1):c.150del (p.Asn50fs)	TMC1 (N50fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 1185610	NM_138691.3(TMC1):c.1765A>G (p.Met589Val)	TMC1 (M589V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 1185609	NM_138691.3(TMC1):c.642+4A>C	TMC1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 1185108	NM_144672.4(OTOA):c.1348A>G (p.Met450Val)	OTOA (M126V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 1185107	NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs)	OTOA (F197fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 1185098	NM_138691.3(TMC1):c.797T>C (p.Ile266Thr)	TMC1 (I266T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 1185097	NM_138691.3(TMC1):c.1551A>C (p.Glu517Asp)	TMC1 (E517D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 1185072	NM_138691.3(TMC1):c.596A>G (p.Asn199Ser)	TMC1 (N199S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 1172666	NM_138691.3(TMC1):c.821C>T (p.Pro274Leu)	TMC1 (P274L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +3 more	GConflicting classifications of pathogenicity
Select item 1027641	NM_138691.3(TMC1):c.2002A>G (p.Ser668Gly)	TMC1 (S668G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GLikely pathogenic
Select item 931065	NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile)	TMC1 (L401I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 914827	NM_138691.3(TMC1):c.*302A>G	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 914793	NM_138691.3(TMC1):c.2011A>G (p.Asn671Asp)	TMC1 (N671D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 914693	NM_138691.3(TMC1):c.-275G>A	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GConflicting classifications of pathogenicity
Select item 914692	NM_138691.3(TMC1):c.-295A>T	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 914200	NM_138691.3(TMC1):c.-385G>A	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 914199	NM_138691.3(TMC1):c.-442T>G	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 913799	NM_138691.3(TMC1):c.-481T>C	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 913198	NM_138691.3(TMC1):c.*26G>C	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GConflicting classifications of pathogenicity
Select item 913197	NM_138691.3(TMC1):c.*10T>C	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 913148	NM_138691.3(TMC1):c.1594G>A (p.Val532Ile)	TMC1 (V532I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 913147	NM_138691.3(TMC1):c.1417A>C (p.Lys473Gln)	TMC1 (K473Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 913097	NM_138691.3(TMC1):c.46G>A (p.Glu16Lys)	TMC1 (E16K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +3 more	GUncertain significance
Select item 912833	NM_138691.3(TMC1):c.2276G>A (p.Arg759His)	TMC1 (R759H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 912832	NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser)	TMC1 (A749S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 912787	NM_138691.3(TMC1):c.976G>A (p.Gly326Ser)	TMC1 (G326S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 810384	NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys)	TMC1 (E570K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +3 more	GUncertain significance
Select item 802487	NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn)	TMC1 (K721N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 634812	NM_138691.3(TMC1):c.596A>T (p.Asn199Ile)	TMC1 (N199I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 627481	NM_138691.3(TMC1):c.2218G>T (p.Glu740Ter)	TMC1 (E740*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 620585	NM_138691.3(TMC1):c.885-2A>C	TMC1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 619172	NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr)	TMC1 (C420Y)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 594638	NM_138691.3(TMC1):c.2177C>T (p.Ala726Val)	TMC1 (A726V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 562098	NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter)	TMC1 (Y381*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 546162	NM_138691.3(TMC1):c.373A>C (p.Lys125Gln)	TMC1 (K125Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 504715	NM_138691.3(TMC1):c.236+1G>A	TMC1	Single nucleotide variant (splice donor variant)	not provided +5 more	GPathogenic
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
Select item 417923	NM_138691.3(TMC1):c.938T>C (p.Phe313Ser)	TMC1 (F313S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 417922	NM_138691.3(TMC1):c.624C>A (p.Ser208Arg)	TMC1 (S208R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 402278	NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu)	TMC1 (P511L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 367267	NM_138691.3(TMC1):c.*183A>G	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GConflicting classifications of pathogenicity
Select item 367266	NM_138691.3(TMC1):c.*156T>C	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GConflicting classifications of pathogenicity
Select item 367265	NM_138691.3(TMC1):c.*106G>C	TMC1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 367264	NM_138691.3(TMC1):c.*93C>T	TMC1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 367263	NM_138691.3(TMC1):c.*51G>A	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 367262	NM_138691.3(TMC1):c.*28A>C	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GConflicting classifications of pathogenicity
Select item 367260	NM_138691.3(TMC1):c.2204A>C (p.Lys735Thr)	TMC1 (K735T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 367259	NM_138691.3(TMC1):c.1609G>A (p.Val537Ile)	TMC1 (V537I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GConflicting classifications of pathogenicity
Select item 367258	NM_138691.3(TMC1):c.1608C>T (p.Tyr536=)	TMC1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GConflicting classifications of pathogenicity
Select item 367257	NM_138691.3(TMC1):c.1584A>G (p.Thr528=)	TMC1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GConflicting classifications of pathogenicity
Select item 367256	NM_138691.3(TMC1):c.910G>A (p.Gly304Arg)	TMC1 (G304R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 367255	NM_138691.3(TMC1):c.795A>C (p.Thr265=)	TMC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 367254	NM_138691.3(TMC1):c.703G>T (p.Ala235Ser)	TMC1 (A235S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GConflicting classifications of pathogenicity
Select item 367253	NM_138691.3(TMC1):c.473G>A (p.Arg158His)	TMC1 (R158H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +4 more	GUncertain significance
Select item 367252	NM_138691.3(TMC1):c.237-5T>A	TMC1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GUncertain significance
Select item 367251	NM_138691.3(TMC1):c.-124T>C	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GConflicting classifications of pathogenicity
Select item 367250	NM_138691.3(TMC1):c.-219A>G	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +2 more	GBenign
Select item 367249	NM_138691.3(TMC1):c.-220C>T	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 367248	NM_138691.3(TMC1):c.-252C>T	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 367247	NM_138691.3(TMC1):c.-329C>A	TMC1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 367246	NM_138691.3(TMC1):c.-350C>T	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 367245	NM_138691.3(TMC1):c.-468G>A	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GBenign
Select item 367244	NM_138691.3(TMC1):c.-540C>T	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GBenign/Likely benign
Select item 287884	NM_138691.3(TMC1):c.1114G>A (p.Val372Met)	TMC1 (V372M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287882	NM_138691.3(TMC1):c.956C>G (p.Thr319Ser)	TMC1 (T319S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +2 more	GUncertain significance
Select item 286752	NM_138691.3(TMC1):c.924C>G (p.Asp308Glu)	TMC1 (D308E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 236041	NM_138691.3(TMC1):c.15dup (p.Val6fs)	TMC1 (V6fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 229314	NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn)	TMC1 (Y381N)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GConflicting classifications of pathogenicity
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 228405	NM_138691.3(TMC1):c.1236del (p.Met413fs)	TMC1 (M413fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 179070	NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)	TMC1 (R445C)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 178545	NM_138691.3(TMC1):c.1263A>G (p.Pro421=)	TMC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 165441	NM_138691.3(TMC1):c.2070G>A (p.Ala690=)	TMC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 165438	NM_138691.3(TMC1):c.1567-14T>G	TMC1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 165436	NM_138691.3(TMC1):c.1532C>A (p.Pro511His)	TMC1 (P511H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 77709	NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys)	TMC1 (R759C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 47877	NM_138691.3(TMC1):c.760G>A (p.Val254Ile)	TMC1 (V254I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 47874	NM_138691.3(TMC1):c.45C>T (p.Asp15=)	TMC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 47873	NM_138691.3(TMC1):c.421C>T (p.Arg141Trp)	TMC1 (R141W)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +3 more	GConflicting classifications of pathogenicity
Select item 47871	NM_138691.3(TMC1):c.339G>A (p.Met113Ile)	TMC1 (M113I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 47869	NM_138691.3(TMC1):c.241G>A (p.Glu81Lys)	TMC1 (E81K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign

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