"GeneDx"[submitter] AND "TMC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 152012	GRCh38/hg38 9q21.13(chr9:72466189-72852368)x3	LOC113839558, LOC126860639 +6 more	Copy number gain	See cases	GLikely benign
Select item 1320688	NM_138691.3(TMC1):c.-305-67G>A	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300604	NM_138691.3(TMC1):c.-195-11del	TMC1	Deletion (intron variant)	not provided	GBenign
Select item 1187921	NM_138691.3(TMC1):c.-14_-7dup	TMC1	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 3364821	NM_138691.3(TMC1):c.11A>G (p.Lys4Arg)	TMC1 (K4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683064	NM_138691.3(TMC1):c.16+94T>G	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253898	NM_138691.3(TMC1):c.16+190C>T	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190558	NM_138691.3(TMC1):c.16+196T>C	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216323	NM_138691.3(TMC1):c.16+207G>T	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 1276260	NM_138691.3(TMC1):c.65-316G>A	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
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 3364121	NM_138691.3(TMC1):c.131G>A (p.Arg44Gln)	TMC1 (R44Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514983	NM_138691.3(TMC1):c.135C>A (p.Thr45=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 47859	NM_138691.3(TMC1):c.141T>A (p.Asp47Glu)	TMC1 (D47E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 47861	NM_138691.3(TMC1):c.145A>C (p.Ile49Leu)	TMC1 (I49L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1686765	NM_138691.3(TMC1):c.236C>A (p.Ala79Glu)	TMC1 (A79E)	Single nucleotide variant (missense variant)	not provided	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 1276753	NM_138691.3(TMC1):c.236+216T>C	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214313	NM_138691.3(TMC1):c.237-254dup	TMC1	Duplication (intron variant)	not provided	GLikely benign
Select item 1196869	NM_138691.3(TMC1):c.237-254del	TMC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1193478	NM_138691.3(TMC1):c.237-236dup	TMC1	Duplication (intron variant)	not provided	GLikely benign
Select item 1186450	NM_138691.3(TMC1):c.237-173A>G	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218046	NM_138691.3(TMC1):c.237-44G>A	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 47870	NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del)	TMC1 (E83del)	Microsatellite (inframe_deletion)	Nonsyndromic Hearing Loss, Dominant +3 more	GBenign/Likely benign
Select item 47869	NM_138691.3(TMC1):c.241G>A (p.Glu81Lys)	TMC1 (E81K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 2501855	NM_138691.3(TMC1):c.257A>G (p.Glu86Gly)	TMC1 (E86G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202329	NM_138691.3(TMC1):c.332G>A (p.Trp111Ter)	TMC1 (W111*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
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 1294007	NM_138691.3(TMC1):c.362+71AT[16]	TMC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1239752	NM_138691.3(TMC1):c.362+71AT[13]	TMC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1224822	NM_138691.3(TMC1):c.362+71AT[11]	TMC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1224578	NM_138691.3(TMC1):c.362+71AT[14]	TMC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1214108	NM_138691.3(TMC1):c.362+71AT[12]	TMC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1273011	NM_138691.3(TMC1):c.362+84_362+123del	TMC1	Deletion (intron variant)	not provided	GBenign
Select item 1217600	NM_138691.3(TMC1):c.362+99_362+100insCA	TMC1	Insertion (intron variant)	not provided	GLikely benign
Select item 1261864	NM_138691.3(TMC1):c.362+101_362+102insTACA	TMC1	Insertion (intron variant)	not provided	GBenign
Select item 1224681	NM_138691.3(TMC1):c.362+100T>C	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222973	NM_138691.3(TMC1):c.362+101AC[10]	TMC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1205828	NM_138691.3(TMC1):c.362+101AC[9]	TMC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1328835	NM_138691.3(TMC1):c.362+118_362+119del	TMC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1283637	NM_138691.3(TMC1):c.362+119AC[10]	TMC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1251123	NM_138691.3(TMC1):c.362+119AC[11]	TMC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1219974	NM_138691.3(TMC1):c.362+124C>T	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215481	NM_138691.3(TMC1):c.363-107G>A	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195226	NM_138691.3(TMC1):c.363-28A>G	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202862	NM_138691.3(TMC1):c.363-26C>A	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1803399	NM_138691.3(TMC1):c.379G>A (p.Val127Met)	TMC1 (V127M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 517647	NM_138691.3(TMC1):c.448G>A (p.Ala150Thr)	TMC1 (A150T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1696928	NM_138691.3(TMC1):c.453+2T>C	TMC1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2444602	NM_138691.3(TMC1):c.453+5G>T	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1220232	NM_138691.3(TMC1):c.453+189G>A	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218910	NM_138691.3(TMC1):c.453+277A>C	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220505	NM_138691.3(TMC1):c.454-30C>T	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186348	NM_138691.3(TMC1):c.462A>G (p.Ala154=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1710741	NM_138691.3(TMC1):c.464A>C (p.Lys155Thr)	TMC1 (K155T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505053	NM_138691.3(TMC1):c.472C>T (p.Arg158Cys)	TMC1 (R158C)	Single nucleotide variant (missense variant)	not specified +1 more	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 1216472	NM_138691.3(TMC1):c.498G>A (p.Ala166=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1235495	NM_138691.3(TMC1):c.535+74G>A	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229389	NM_138691.3(TMC1):c.535+101A>G	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255349	NM_138691.3(TMC1):c.535+103AAAC[3]	TMC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1274630	NM_138691.3(TMC1):c.535+201A>G	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238759	NM_138691.3(TMC1):c.535+219G>A	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 620146	NM_138691.3(TMC1):c.582G>A (p.Trp194Ter)	TMC1 (W194*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2574930	NM_138691.3(TMC1):c.587A>G (p.Tyr196Cys)	TMC1 (Y196C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219297	NM_138691.3(TMC1):c.627C>T (p.Leu209=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1281461	NM_138691.3(TMC1):c.643-169A>T	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1801028	NM_138691.3(TMC1):c.676A>G (p.Arg226Gly)	TMC1 (R226G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314464	NM_138691.3(TMC1):c.688C>T (p.Pro230Ser)	TMC1 (P230S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805671	NM_138691.3(TMC1):c.696C>T (p.Ala232=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1314637	NM_138691.3(TMC1):c.697G>A (p.Glu233Lys)	TMC1 (E233K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3252269	NM_138691.3(TMC1):c.716A>G (p.Asn239Ser)	TMC1 (N239S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208330	NM_138691.3(TMC1):c.741+140GAAA[3]	TMC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1190692	NM_138691.3(TMC1):c.741+155AG[6]	TMC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1181768	NM_138691.3(TMC1):c.741+155AG[7]	TMC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1218015	NM_138691.3(TMC1):c.741+167A>G	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230907	NM_138691.3(TMC1):c.741+187_741+188del	TMC1	Deletion (intron variant)	not provided	GBenign
Select item 1243248	NM_138691.3(TMC1):c.741+188GA[14]	TMC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1255248	NM_138691.3(TMC1):c.741+188GA[10]	TMC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1247655	NM_138691.3(TMC1):c.741+188GA[12]	TMC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1240906	NM_138691.3(TMC1):c.741+188GA[11]	TMC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1175462	NM_138691.3(TMC1):c.741+212_741+217del	TMC1	Deletion (intron variant)	not provided	GBenign
Select item 1218009	NM_138691.3(TMC1):c.742-125T>A	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 367255	NM_138691.3(TMC1):c.795A>C (p.Thr265=)	TMC1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GConflicting classifications of pathogenicity
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 667173	NM_138691.3(TMC1):c.822G>A (p.Pro274=)	TMC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1314241	NM_138691.3(TMC1):c.853A>C (p.Ile285Leu)	TMC1 (I285L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213521	NM_138691.3(TMC1):c.884+1G>A	TMC1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1222652	NM_138691.3(TMC1):c.884+318A>G	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693317	NM_138691.3(TMC1):c.885-11T>C	TMC1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1306546	NM_138691.3(TMC1):c.916G>A (p.Gly306Arg)	TMC1 (G306R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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