ClinVar for Gene (Select 101929655) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326528	NM_001080532.3(TMC3):c.2448T>A (p.His816Gln)	TMC3, TMC3-AS1 (H816Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326527	NM_001080532.3(TMC3):c.1868T>C (p.Met623Thr)	TMC3, TMC3-AS1 (M623T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326526	NM_001080532.3(TMC3):c.858G>C (p.Glu286Asp)	TMC3, TMC3-AS1 (E286D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326525	NM_001080532.3(TMC3):c.3169G>A (p.Ala1057Thr)	TMC3, TMC3-AS1 (A1057T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3326524	NM_001080532.3(TMC3):c.2318A>C (p.His773Pro)	TMC3, TMC3-AS1 (H773P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326523	NM_001080532.3(TMC3):c.2797C>G (p.Pro933Ala)	TMC3, TMC3-AS1 (P933A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326522	NM_001080532.3(TMC3):c.1112T>C (p.Met371Thr)	TMC3, TMC3-AS1 (M371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326521	NM_001080532.3(TMC3):c.2932T>A (p.Ser978Thr)	TMC3, TMC3-AS1 (S978T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326520	NM_001080532.3(TMC3):c.2510C>T (p.Ser837Leu)	TMC3, TMC3-AS1 (S837L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326519	NM_001080532.3(TMC3):c.2477G>A (p.Cys826Tyr)	TMC3, TMC3-AS1 (C826Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326518	NM_001080532.3(TMC3):c.2641A>T (p.Arg881Trp)	TMC3, TMC3-AS1 (R881W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326517	NM_001080532.3(TMC3):c.1369C>T (p.Arg457Trp)	TMC3, TMC3-AS1 (R457W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326516	NM_001080532.3(TMC3):c.194G>A (p.Arg65His)	TMC3, TMC3-AS1 (R65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326515	NM_001080532.3(TMC3):c.2311G>A (p.Val771Met)	TMC3, TMC3-AS1 (V771M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178232	NM_001080532.3(TMC3):c.962T>C (p.Ile321Thr)	TMC3, TMC3-AS1 (I321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178231	NM_001080532.3(TMC3):c.35G>A (p.Gly12Asp)	TMC3, TMC3-AS1 (G12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178230	NM_001080532.3(TMC3):c.3145A>G (p.Ser1049Gly)	TMC3, TMC3-AS1 (S1049G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178229	NM_001080532.3(TMC3):c.3102C>A (p.Phe1034Leu)	TMC3, TMC3-AS1 (F1034L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178228	NM_001080532.3(TMC3):c.287G>A (p.Arg96Gln)	TMC3, TMC3-AS1 (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178226	NM_001080532.3(TMC3):c.2864A>G (p.Lys955Arg)	TMC3, TMC3-AS1 (K955R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178225	NM_001080532.3(TMC3):c.2279C>A (p.Ala760Glu)	TMC3, TMC3-AS1 (A760E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178224	NM_001080532.3(TMC3):c.2196G>A (p.Met732Ile)	TMC3, TMC3-AS1 (M732I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178223	NM_001080532.3(TMC3):c.1994T>C (p.Ile665Thr)	TMC3, TMC3-AS1 (I665T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178222	NM_001080532.3(TMC3):c.1762A>G (p.Lys588Glu)	TMC3, TMC3-AS1 (K588E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178221	NM_001080532.3(TMC3):c.1342C>T (p.Pro448Ser)	TMC3, TMC3-AS1 (P448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178220	NM_001080532.3(TMC3):c.1294A>G (p.Thr432Ala)	TMC3, TMC3-AS1 (T432A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178219	NM_001080532.3(TMC3):c.1217A>C (p.Asn406Thr)	TMC3, TMC3-AS1 (N406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645636	NM_001080532.3(TMC3):c.1020G>A (p.Val340=)	TMC3, TMC3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645635	NM_001080532.3(TMC3):c.3116C>T (p.Thr1039Met)	TMC3, TMC3-AS1 (T1039M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622698	NM_001080532.3(TMC3):c.2557G>C (p.Glu853Gln)	TMC3, TMC3-AS1 (E853Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606906	NM_001080532.3(TMC3):c.2621C>T (p.Thr874Ile)	TMC3, TMC3-AS1 (T874I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594614	NM_001080532.3(TMC3):c.1600G>A (p.Val534Met)	TMC3, TMC3-AS1 (V534M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590527	NM_001080532.3(TMC3):c.2570G>A (p.Arg857Gln)	TMC3, TMC3-AS1 (R857Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557983	NM_001080532.3(TMC3):c.2185G>A (p.Val729Ile)	TMC3, TMC3-AS1 (V729I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551463	NM_001080532.3(TMC3):c.181A>G (p.Met61Val)	TMC3, TMC3-AS1 (M61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537080	NM_001080532.3(TMC3):c.412G>A (p.Val138Ile)	TMC3, TMC3-AS1 (V138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515968	NM_001080532.3(TMC3):c.1042G>C (p.Glu348Gln)	TMC3, TMC3-AS1 (E348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511207	NM_001080532.3(TMC3):c.2921T>C (p.Ile974Thr)	TMC3, TMC3-AS1 (I974T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492465	NM_001080532.3(TMC3):c.1214G>C (p.Gly405Ala)	TMC3, TMC3-AS1 (G405A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489249	NM_001080532.3(TMC3):c.2460G>T (p.Arg820Ser)	TMC3, TMC3-AS1 (R820S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485105	NM_001080532.3(TMC3):c.2773G>A (p.Val925Met)	TMC3, TMC3-AS1 (V925M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474978	NM_001080532.3(TMC3):c.2947C>G (p.Arg983Gly)	TMC3, TMC3-AS1 (R983G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472343	NM_001080532.3(TMC3):c.1565G>A (p.Ser522Asn)	TMC3, TMC3-AS1 (S522N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470783	NM_001080532.3(TMC3):c.3285G>C (p.Leu1095Phe)	TMC3, TMC3-AS1 (L1095F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2468771	NM_001080532.3(TMC3):c.2629G>A (p.Ala877Thr)	TMC3, TMC3-AS1 (A877T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465624	NM_001080532.3(TMC3):c.2248G>A (p.Asp750Asn)	TMC3, TMC3-AS1 (D750N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408244	NM_001080532.3(TMC3):c.1748C>T (p.Ala583Val)	TMC3, TMC3-AS1 (A583V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393378	NM_001080532.3(TMC3):c.1414G>A (p.Glu472Lys)	TMC3, TMC3-AS1 (E472K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391405	NM_001080532.3(TMC3):c.2470G>C (p.Gly824Arg)	TMC3, TMC3-AS1 (G824R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388760	NM_001080532.3(TMC3):c.1162C>T (p.Pro388Ser)	TMC3, TMC3-AS1 (P388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376663	NM_001080532.3(TMC3):c.2285C>T (p.Ser762Leu)	TMC3, TMC3-AS1 (S762L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373732	NM_001080532.3(TMC3):c.2318A>G (p.His773Arg)	TMC3, TMC3-AS1 (H773R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370159	NM_001080532.3(TMC3):c.1049C>T (p.Ser350Leu)	TMC3, TMC3-AS1 (S350L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362640	NM_001080532.3(TMC3):c.3292T>A (p.Ser1098Thr)	TMC3, TMC3-AS1 (S1098T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2356102	NM_001080532.3(TMC3):c.2928G>C (p.Glu976Asp)	TMC3, TMC3-AS1 (E976D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355523	NM_001080532.3(TMC3):c.785A>G (p.Asn262Ser)	TMC3, TMC3-AS1 (N262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345613	NM_001080532.3(TMC3):c.2399G>A (p.Arg800Lys)	TMC3, TMC3-AS1 (R800K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345077	NM_001080532.3(TMC3):c.583A>G (p.Thr195Ala)	TMC3, TMC3-AS1 (T195A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2335839	NM_001080532.3(TMC3):c.479G>A (p.Gly160Asp)	TMC3, TMC3-AS1 (G160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326562	NM_001080532.3(TMC3):c.1603C>T (p.Arg535Trp)	TMC3, TMC3-AS1 (R535W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324438	NM_001080532.3(TMC3):c.2534C>G (p.Thr845Arg)	TMC3, TMC3-AS1 (T845R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312484	NM_001080532.3(TMC3):c.2903G>A (p.Arg968Gln)	TMC3, TMC3-AS1 (R968Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306935	NM_001080532.3(TMC3):c.3082C>T (p.Pro1028Ser)	TMC3, TMC3-AS1 (P1028S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290769	NM_001080532.3(TMC3):c.2591A>G (p.Asn864Ser)	TMC3, TMC3-AS1 (N864S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289023	NM_001080532.3(TMC3):c.2924G>A (p.Gly975Glu)	TMC3, TMC3-AS1 (G975E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287984	NM_001080532.3(TMC3):c.1418C>T (p.Thr473Ile)	TMC3, TMC3-AS1 (T473I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282290	NM_001080532.3(TMC3):c.1166G>A (p.Arg389Lys)	TMC3, TMC3-AS1 (R389K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276050	NM_001080532.3(TMC3):c.2772C>G (p.Asn924Lys)	TMC3, TMC3-AS1 (N924K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271487	NM_001080532.3(TMC3):c.2359G>A (p.Val787Ile)	TMC3, TMC3-AS1 (V787I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2271221	NM_001080532.3(TMC3):c.1706G>A (p.Gly569Glu)	TMC3, TMC3-AS1 (G569E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264202	NM_001080532.3(TMC3):c.3162C>A (p.Asn1054Lys)	TMC3, TMC3-AS1 (N1054K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261484	NM_001080532.3(TMC3):c.1778T>C (p.Met593Thr)	TMC3, TMC3-AS1 (M593T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248029	NM_001080532.3(TMC3):c.2140C>T (p.Leu714Phe)	TMC3, TMC3-AS1 (L714F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243131	NM_001080532.3(TMC3):c.1409T>C (p.Leu470Ser)	TMC3, TMC3-AS1 (L470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227449	NM_001080532.3(TMC3):c.1172C>T (p.Thr391Met)	TMC3, TMC3-AS1 (T391M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219505	NM_001080532.3(TMC3):c.319C>T (p.Arg107Trp)	TMC3, TMC3-AS1 (R107W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217655	NM_001080532.3(TMC3):c.1021G>A (p.Val341Met)	TMC3, TMC3-AS1 (V341M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217183	NM_001080532.3(TMC3):c.2608C>A (p.Pro870Thr)	TMC3, TMC3-AS1 (P870T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207181	NM_001080532.3(TMC3):c.3061T>C (p.Tyr1021His)	TMC3, TMC3-AS1 (Y1021H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205334	NM_001080532.3(TMC3):c.1769T>C (p.Ile590Thr)	TMC3, TMC3-AS1 (I590T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252526	NM_001080532.3(TMC3):c.3134C>A (p.Ser1045Ter)	TMC3, TMC3-AS1 (S1045*)	Single nucleotide variant (nonsense)	not provided +1 more	GBenign
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 83