"Ambry Genetics"[submitter] AND "TMC1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320604	NM_138691.3(TMC1):c.59G>C (p.Ser20Thr)	TMC1 (S20T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2212739	NM_138691.3(TMC1):c.382A>G (p.Ser128Gly)	TMC1 (S128G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526302	NM_138691.3(TMC1):c.422G>A (p.Arg141Gln)	TMC1 (R141Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2495528	NM_138691.3(TMC1):c.451A>C (p.Lys151Gln)	TMC1 (K151Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 367253	NM_138691.3(TMC1):c.473G>A (p.Arg158His)	TMC1 (R158H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +4 more	GUncertain significance
Select item 3326504	NM_138691.3(TMC1):c.478T>A (p.Phe160Ile)	TMC1 (F160I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1990176	NM_138691.3(TMC1):c.619T>A (p.Phe207Ile)	TMC1 (F207I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2301519	NM_138691.3(TMC1):c.628A>G (p.Ile210Val)	TMC1 (I210V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308174	NM_138691.3(TMC1):c.656T>C (p.Leu219Ser)	TMC1 (L219S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1310091	NM_138691.3(TMC1):c.791G>A (p.Arg264Gln)	TMC1 (R264Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 47878	NM_138691.3(TMC1):c.791G>C (p.Arg264Pro)	TMC1 (R264P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3178201	NM_138691.3(TMC1):c.865T>A (p.Phe289Ile)	TMC1 (F289I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3326507	NM_138691.3(TMC1):c.887T>C (p.Met296Thr)	TMC1 (M296T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1310494	NM_138691.3(TMC1):c.928A>G (p.Thr310Ala)	TMC1 (T310A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1306523	NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys)	TMC1 (Y323C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2409369	NM_138691.3(TMC1):c.1015A>C (p.Thr339Pro)	TMC1 (T339P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 229313	NM_138691.3(TMC1):c.1018A>G (p.Met340Val)	TMC1 (M340V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 47855	NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser)	TMC1 (N357S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2683050	NM_138691.3(TMC1):c.1100T>G (p.Leu367Arg)	TMC1 (L367R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3326505	NM_138691.3(TMC1):c.1231A>G (p.Met411Val)	TMC1 (M411V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305776	NM_138691.3(TMC1):c.1295A>C (p.Asp432Ala)	TMC1 (D432A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218543	NM_138691.3(TMC1):c.1375C>T (p.Leu459Phe)	TMC1 (L459F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178200	NM_138691.3(TMC1):c.1471A>G (p.Asn491Asp)	TMC1 (N491D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1918478	NM_138691.3(TMC1):c.1535G>A (p.Arg512Gln)	TMC1 (R512Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2380514	NM_138691.3(TMC1):c.1795G>A (p.Gly599Ser)	TMC1 (G599S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275146	NM_138691.3(TMC1):c.1951G>T (p.Val651Phe)	TMC1 (V651F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 47867	NM_138691.3(TMC1):c.2068G>A (p.Ala690Thr)	TMC1 (A690T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2548941	NM_138691.3(TMC1):c.2134G>T (p.Ala712Ser)	TMC1 (A712S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3326506	NM_138691.3(TMC1):c.2188C>T (p.Leu730Phe)	TMC1 (L730F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508408	NM_138691.3(TMC1):c.2201T>C (p.Met734Thr)	TMC1 (M734T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257619	NM_138691.3(TMC1):c.2242A>G (p.Met748Val)	TMC1 (M748V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 31