TMC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 155405	GRCh38/hg38 20p13(chr20:2526755-3081651)x3	C20orf141, CPXM1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 2403074	NM_080751.3(TMC2):c.56G>A (p.Arg19Gln)	TMC2 (R19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313820	NM_080751.3(TMC2):c.99G>C (p.Arg33Ser)	TMC2 (R33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406148	NM_080751.3(TMC2):c.181G>A (p.Gly61Arg)	TMC2 (G61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529655	NM_080751.3(TMC2):c.260A>G (p.Glu87Gly)	TMC2 (E87G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255469	NM_080751.3(TMC2):c.268G>A (p.Glu90Lys)	TMC2 (E90K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374020	NM_080751.3(TMC2):c.496C>T (p.Leu166Phe)	TMC2 (L166F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233845	NM_080751.3(TMC2):c.511C>T (p.Arg171Trp)	TMC2 (R171W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1246774	NM_080751.3(TMC2):c.554+13C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769064	NM_080751.3(TMC2):c.555-8C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3178215	NM_080751.3(TMC2):c.567A>T (p.Glu189Asp)	TMC2 (E189D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301779	NM_080751.3(TMC2):c.599A>C (p.Lys200Thr)	TMC2 (K200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603541	NM_080751.3(TMC2):c.616C>G (p.Leu206Val)	TMC2 (L206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286330	NM_080751.3(TMC2):c.646-14G>C	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3178216	NM_080751.3(TMC2):c.647A>G (p.Lys216Arg)	TMC2 (K216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230225	NM_080751.3(TMC2):c.752C>T (p.Ser251Leu)	TMC2 (S251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466041	NM_080751.3(TMC2):c.827T>C (p.Ile276Thr)	TMC2 (I276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1260478	NM_080751.3(TMC2):c.835-140T>G	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2487933	NM_080751.3(TMC2):c.931G>C (p.Glu311Gln)	TMC2 (E311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178217	NM_080751.3(TMC2):c.940A>G (p.Ile314Val)	TMC2 (I314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253055	NM_080751.3(TMC2):c.952G>C (p.Ala318Pro)	TMC2 (A318P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326912	NM_080751.3(TMC2):c.962A>G (p.Tyr321Cys)	TMC2 (Y321C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521431	NM_080751.3(TMC2):c.1007G>A (p.Arg336Gln)	TMC2 (R336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178202	NM_080751.3(TMC2):c.1036G>T (p.Val346Phe)	TMC2 (V346F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326512	NM_080751.3(TMC2):c.1052A>G (p.Tyr351Cys)	TMC2 (Y351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 3178203	NM_080751.3(TMC2):c.1108G>A (p.Glu370Lys)	TMC2 (E370K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590995	NM_080751.3(TMC2):c.1118G>A (p.Ser373Asn)	TMC2 (S373N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326514	NM_080751.3(TMC2):c.1145T>C (p.Met382Thr)	TMC2 (M382T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251089	NM_080751.3(TMC2):c.1151C>T (p.Thr384Ile)	TMC2 (T384I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178204	NM_080751.3(TMC2):c.1205C>T (p.Ser402Phe)	TMC2 (S402F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178205	NM_080751.3(TMC2):c.1280G>C (p.Arg427Thr)	TMC2 (R427T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530702	NM_080751.3(TMC2):c.1285C>A (p.Leu429Ile)	TMC2 (L429I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624148	NM_080751.3(TMC2):c.1357A>G (p.Lys453Glu)	TMC2 (K453E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326509	NM_080751.3(TMC2):c.1423G>C (p.Val475Leu)	TMC2 (V475L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569017	NM_080751.3(TMC2):c.1423G>A (p.Val475Met)	TMC2 (V475M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354066	NM_080751.3(TMC2):c.1499C>G (p.Thr500Ser)	TMC2 (T500S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178206	NM_080751.3(TMC2):c.1526T>C (p.Ile509Thr)	TMC2 (I509T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299810	NM_080751.3(TMC2):c.1582G>A (p.Val528Ile)	TMC2 (V528I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366768	NM_080751.3(TMC2):c.1598C>T (p.Ala533Val)	TMC2 (A533V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326508	NM_080751.3(TMC2):c.1625C>T (p.Thr542Ile)	TMC2 (T542I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326513	NM_080751.3(TMC2):c.1700C>A (p.Ala567Glu)	TMC2 (A567E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472643	NM_080751.3(TMC2):c.1703A>T (p.Asp568Val)	TMC2 (D568V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594963	NM_080751.3(TMC2):c.1735G>A (p.Val579Met)	TMC2 (V579M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278121	NM_080751.3(TMC2):c.1743+20A>G	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285752	NM_080751.3(TMC2):c.1744-336C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652149	NM_080751.3(TMC2):c.1761G>A (p.Thr587=)	TMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2248219	NM_080751.3(TMC2):c.1771A>T (p.Met591Leu)	TMC2 (M591L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178207	NM_080751.3(TMC2):c.1813C>T (p.Arg605Trp)	TMC2 (R605W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314849	NM_080751.3(TMC2):c.1843T>C (p.Cys615Arg)	TMC2 (C615R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282248	NM_080751.3(TMC2):c.1907T>C (p.Val636Ala)	TMC2 (V636A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545109	NM_080751.3(TMC2):c.1912G>T (p.Gly638Cys)	TMC2 (G638C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1275464	NM_080751.3(TMC2):c.1940+119T>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286973	NM_080751.3(TMC2):c.1940+148G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288418	NM_080751.3(TMC2):c.1940+223T>G	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278086	NM_080751.3(TMC2):c.1941-158C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3239004	NM_080751.3(TMC2):c.1941-2A>T	TMC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2235203	NM_080751.3(TMC2):c.1941G>T (p.Trp647Cys)	TMC2 (W647C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326510	NM_080751.3(TMC2):c.2004G>A (p.Met668Ile)	TMC2 (M668I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251037	NM_080751.3(TMC2):c.2041C>T (p.Pro681Ser)	TMC2 (P681S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326511	NM_080751.3(TMC2):c.2053G>A (p.Val685Met)	TMC2 (V685M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223689	NM_080751.3(TMC2):c.2069G>A (p.Arg690Gln)	TMC2 (R690Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178208	NM_080751.3(TMC2):c.2105T>G (p.Val702Gly)	TMC2 (V702G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589187	NM_080751.3(TMC2):c.2158T>G (p.Ser720Ala)	TMC2 (S720A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274440	NM_080751.3(TMC2):c.2180+21G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260907	NM_080751.3(TMC2):c.2180+62C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2494470	NM_080751.3(TMC2):c.2192G>T (p.Arg731Ile)	TMC2 (R731I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178209	NM_080751.3(TMC2):c.2227G>A (p.Asp743Asn)	TMC2 (D743N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403860	NM_080751.3(TMC2):c.2266G>A (p.Ala756Thr)	TMC2 (A756T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1261322	NM_080751.3(TMC2):c.2306+266G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246210	NM_080751.3(TMC2):c.2307-280G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236058	NM_080751.3(TMC2):c.2307-221G>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248390	NM_080751.3(TMC2):c.2307-16T>C	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3178210	NM_080751.3(TMC2):c.2310G>T (p.Leu770Phe)	TMC2 (L770F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273141	NM_080751.3(TMC2):c.2385+29C>G	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279176	NM_080751.3(TMC2):c.2386-259_2386-258insCT	TMC2	Insertion (intron variant)	not provided	GBenign
Select item 1236459	NM_080751.3(TMC2):c.2386-127C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178905	NM_080751.3(TMC2):c.2386-26G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284226	NM_080751.3(TMC2):c.2406T>C (p.Ser802=)	TMC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3178211	NM_080751.3(TMC2):c.2438G>C (p.Arg813Thr)	TMC2 (R813T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652150	NM_080751.3(TMC2):c.2448G>A (p.Glu816=)	TMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478455	NM_080751.3(TMC2):c.2486T>G (p.Leu829Arg)	TMC2 (L829R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276935	NM_080751.3(TMC2):c.2503+71C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253159	NM_080751.3(TMC2):c.2503+310G>C	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221029	NM_080751.3(TMC2):c.2503+311G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3178212	NM_080751.3(TMC2):c.2530A>C (p.Ser844Arg)	TMC2 (S844R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178213	NM_080751.3(TMC2):c.2617A>G (p.Ile873Val)	TMC2 (I873V)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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