117531[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC113839555, LOC113839556 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
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 150993	GRCh38/hg38 9q21.13(chr9:72430984-72661712)x1	LOC113839558, LOC126860639 +6 more	Copy number loss	See cases	GLikely benign
Select item 152012	GRCh38/hg38 9q21.13(chr9:72466189-72852368)x3	LOC113839558, LOC126860639 +6 more	Copy number gain	See cases	GLikely benign
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 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 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 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 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 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 367247	NM_138691.3(TMC1):c.-329C>A	TMC1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1320688	NM_138691.3(TMC1):c.-305-67G>A	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 1300604	NM_138691.3(TMC1):c.-195-11del	TMC1	Deletion (intron variant)	not provided	GBenign
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 1187921	NM_138691.3(TMC1):c.-14_-7dup	TMC1	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 3016360	NM_138691.3(TMC1):c.5C>A (p.Ser2Ter)	TMC1 (S2*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 179445	NM_138691.3(TMC1):c.7C>A (p.Pro3Thr)	TMC1 (P3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2964086	NM_138691.3(TMC1):c.9C>T (p.Pro3=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2773080	NM_138691.3(TMC1):c.16+1G>A	TMC1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 4106	NM_138691.3(TMC1):c.16+1G>T	TMC1	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 3036183	NM_138691.3(TMC1):c.16+4T>C	TMC1	Single nucleotide variant (intron variant)	TMC1-related disorder	GLikely benign
Select item 2821540	NM_138691.3(TMC1):c.16+14C>A	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701886	NM_138691.3(TMC1):c.16+23_16+26del	TMC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2859444	NM_138691.3(TMC1):c.16+20T>C	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2877979	NM_138691.3(TMC1):c.17-16T>C	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 178942	NM_138691.3(TMC1):c.22del (p.Ile8fs)	TMC1 (I8fs)	Deletion (frameshift variant)	Rare genetic deafness	GPathogenic
Select item 1355042	NM_138691.3(TMC1):c.35A>G (p.Glu12Gly)	TMC1 (E12G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	not specified +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 1428524	NM_138691.3(TMC1):c.64A>G (p.Ser22Gly)	TMC1 (S22G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735275	NM_138691.3(TMC1):c.64+2T>C	TMC1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 2875006	NM_138691.3(TMC1):c.64+9T>C	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021179	NM_138691.3(TMC1):c.64+11A>T	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779927	NM_138691.3(TMC1):c.64+12T>C	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672269	NM_138691.3(TMC1):c.64+19C>T	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276260	NM_138691.3(TMC1):c.65-316G>A	TMC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2849589	NM_138691.3(TMC1):c.65-11G>C	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 598453	NM_138691.3(TMC1):c.65-10C>T	TMC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2968010	NM_138691.3(TMC1):c.65-8A>G	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821517	NM_138691.3(TMC1):c.65-8A>C	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896343	NM_138691.3(TMC1):c.72G>A (p.Glu24=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743680	NM_138691.3(TMC1):c.78G>A (p.Glu26=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703575	NM_138691.3(TMC1):c.84G>A (p.Val28=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807316	NM_138691.3(TMC1):c.87A>G (p.Glu29=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975223	NM_138691.3(TMC1):c.94C>T (p.Leu32=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4103	NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)	TMC1 (R34*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 2732961	NM_138691.3(TMC1):c.108G>A (p.Glu36=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2850671	NM_138691.3(TMC1):c.147C>A (p.Ile49=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2889711	NM_138691.3(TMC1):c.177G>A (p.Glu59=)	TMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047585	NM_138691.3(TMC1):c.193A>G (p.Lys65Glu)	TMC1 (K65E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 179431	NM_138691.3(TMC1):c.215_219dup (p.Arg74fs)	TMC1 (R74fs)	Duplication (frameshift variant)	Rare genetic deafness	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 2683049	NM_138691.3(TMC1):c.236C>T (p.Ala79Val)	TMC1 (A79V)	Single nucleotide variant (missense variant)	not provided	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 1323692	NM_138691.3(TMC1):c.236+1G>T	TMC1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 2865595	NM_138691.3(TMC1):c.236+9G>C	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801005	NM_138691.3(TMC1):c.236+12C>T	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790250	NM_138691.3(TMC1):c.236+12C>G	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3002918	NM_138691.3(TMC1):c.237-7T>G	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837319	NM_138691.3(TMC1):c.237-6T>C	TMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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