ClinVar for Gene (Select 342125) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	GUncertain significance
Select item 2606906	NM_001080532.3(TMC3):c.2621C>T (p.Thr874Ile)	TMC3, TMC3-AS1 (T874I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594614	NM_001080532.3(TMC3):c.1600G>A (p.Val534Met)	TMC3, TMC3-AS1 (V534M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590527	NM_001080532.3(TMC3):c.2570G>A (p.Arg857Gln)	TMC3, TMC3-AS1 (R857Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2557983	NM_001080532.3(TMC3):c.2185G>A (p.Val729Ile)	TMC3, TMC3-AS1 (V729I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551463	NM_001080532.3(TMC3):c.181A>G (p.Met61Val)	TMC3, TMC3-AS1 (M61V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537080	NM_001080532.3(TMC3):c.412G>A (p.Val138Ile)	TMC3, TMC3-AS1 (V138I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515968	NM_001080532.3(TMC3):c.1042G>C (p.Glu348Gln)	TMC3, TMC3-AS1 (E348Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511207	NM_001080532.3(TMC3):c.2921T>C (p.Ile974Thr)	TMC3, TMC3-AS1 (I974T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2492465	NM_001080532.3(TMC3):c.1214G>C (p.Gly405Ala)	TMC3-AS1, TMC3 (G405A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489249	NM_001080532.3(TMC3):c.2460G>T (p.Arg820Ser)	TMC3, TMC3-AS1 (R820S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485105	NM_001080532.3(TMC3):c.2773G>A (p.Val925Met)	TMC3, TMC3-AS1 (V925M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2474978	NM_001080532.3(TMC3):c.2947C>G (p.Arg983Gly)	TMC3, TMC3-AS1 (R983G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472343	NM_001080532.3(TMC3):c.1565G>A (p.Ser522Asn)	TMC3, TMC3-AS1 (S522N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2468771	NM_001080532.3(TMC3):c.2629G>A (p.Ala877Thr)	TMC3, TMC3-AS1 (A877T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2465624	NM_001080532.3(TMC3):c.2248G>A (p.Asp750Asn)	TMC3, TMC3-AS1 (D750N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2408244	NM_001080532.3(TMC3):c.1748C>T (p.Ala583Val)	TMC3-AS1, TMC3 (A583V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393378	NM_001080532.3(TMC3):c.1414G>A (p.Glu472Lys)	TMC3-AS1, TMC3 (E472K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391405	NM_001080532.3(TMC3):c.2470G>C (p.Gly824Arg)	TMC3-AS1, TMC3 (G824R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388760	NM_001080532.3(TMC3):c.1162C>T (p.Pro388Ser)	TMC3, TMC3-AS1 (P388S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376663	NM_001080532.3(TMC3):c.2285C>T (p.Ser762Leu)	TMC3, TMC3-AS1 (S762L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373732	NM_001080532.3(TMC3):c.2318A>G (p.His773Arg)	TMC3-AS1, TMC3 (H773R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370159	NM_001080532.3(TMC3):c.1049C>T (p.Ser350Leu)	TMC3, TMC3-AS1 (S350L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362640	NM_001080532.3(TMC3):c.3292T>A (p.Ser1098Thr)	TMC3-AS1, TMC3 (S1098T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356102	NM_001080532.3(TMC3):c.2928G>C (p.Glu976Asp)	TMC3, TMC3-AS1 (E976D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355523	NM_001080532.3(TMC3):c.785A>G (p.Asn262Ser)	TMC3-AS1, TMC3 (N262S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345613	NM_001080532.3(TMC3):c.2399G>A (p.Arg800Lys)	TMC3-AS1, TMC3 (R800K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2335839	NM_001080532.3(TMC3):c.479G>A (p.Gly160Asp)	TMC3, TMC3-AS1 (G160D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326562	NM_001080532.3(TMC3):c.1603C>T (p.Arg535Trp)	TMC3-AS1, TMC3 (R535W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324438	NM_001080532.3(TMC3):c.2534C>G (p.Thr845Arg)	TMC3, TMC3-AS1 (T845R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312484	NM_001080532.3(TMC3):c.2903G>A (p.Arg968Gln)	TMC3-AS1, TMC3 (R968Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306935	NM_001080532.3(TMC3):c.3082C>T (p.Pro1028Ser)	TMC3, TMC3-AS1 (P1028S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290769	NM_001080532.3(TMC3):c.2591A>G (p.Asn864Ser)	TMC3-AS1, TMC3 (N864S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289023	NM_001080532.3(TMC3):c.2924G>A (p.Gly975Glu)	TMC3-AS1, TMC3 (G975E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287984	NM_001080532.3(TMC3):c.1418C>T (p.Thr473Ile)	TMC3, TMC3-AS1 (T473I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282290	NM_001080532.3(TMC3):c.1166G>A (p.Arg389Lys)	TMC3-AS1, TMC3 (R389K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276050	NM_001080532.3(TMC3):c.2772C>G (p.Asn924Lys)	TMC3-AS1, TMC3 (N924K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271487	NM_001080532.3(TMC3):c.2359G>A (p.Val787Ile)	TMC3, TMC3-AS1 (V787I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2271221	NM_001080532.3(TMC3):c.1706G>A (p.Gly569Glu)	TMC3-AS1, TMC3 (G569E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264202	NM_001080532.3(TMC3):c.3162C>A (p.Asn1054Lys)	TMC3, TMC3-AS1 (N1054K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261484	NM_001080532.3(TMC3):c.1778T>C (p.Met593Thr)	TMC3, TMC3-AS1 (M593T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248029	NM_001080532.3(TMC3):c.2140C>T (p.Leu714Phe)	TMC3-AS1, TMC3 (L714F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243131	NM_001080532.3(TMC3):c.1409T>C (p.Leu470Ser)	TMC3-AS1, TMC3 (L470S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227449	NM_001080532.3(TMC3):c.1172C>T (p.Thr391Met)	TMC3-AS1, TMC3 (T391M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219505	NM_001080532.3(TMC3):c.319C>T (p.Arg107Trp)	TMC3-AS1, TMC3 (R107W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217655	NM_001080532.3(TMC3):c.1021G>A (p.Val341Met)	TMC3, TMC3-AS1 (V341M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217183	NM_001080532.3(TMC3):c.2608C>A (p.Pro870Thr)	TMC3, TMC3-AS1 (P870T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207181	NM_001080532.3(TMC3):c.3061T>C (p.Tyr1021His)	TMC3, TMC3-AS1 (Y1021H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205334	NM_001080532.3(TMC3):c.1769T>C (p.Ile590Thr)	TMC3, TMC3-AS1 (I590T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1807897	GRCh37/hg19 15q25.1-25.2(chr15:79996626-82097796)x1	ABHD17C, ARNT2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 688687	GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1	ABHD17C, AP3B2 +22 more	Copy number loss	not provided	GPathogenic
Select item 564224	GRCh37/hg19 15q25.1-25.2(chr15:80955355-82622366)x4	MESD, STARD5 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +154 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 395044	GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1	ABHD17C, AP3B2 +22 more	Copy number loss	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 252526	NM_001080532.3(TMC3):c.3134C>A (p.Ser1045Ter)	TMC3, TMC3-AS1 (S1045*)	Single nucleotide variant (nonsense)	not specified	GBenign
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 77