TMC7[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 153402	GRCh38/hg38 16p12.3(chr16:18759489-19293402)x3	ARL6IP1, CLEC19A +24 more	Copy number gain	See cases	GUncertain significance
Select item 2352979	NM_024847.4(TMC7):c.11C>A (p.Ser4Tyr)	TMC7 (S4Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2409721	NM_024847.4(TMC7):c.41C>T (p.Pro14Leu)	TMC7 (P14L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2349013	NM_024847.4(TMC7):c.47G>A (p.Arg16Gln)	TMC7 (R16Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208958	NM_024847.4(TMC7):c.94T>C (p.Phe32Leu)	TMC7 (F32L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2392616	NM_024847.4(TMC7):c.140G>A (p.Arg47Gln)	TMC7 (R47Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2610609	NM_024847.4(TMC7):c.176G>A (p.Arg59Gln)	TMC7 (R59Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2218116	NM_024847.4(TMC7):c.301C>T (p.Arg101Trp)	TMC7 (R101W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2599555	NM_024847.4(TMC7):c.320A>C (p.Gln107Pro)	TMC7 (Q107P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2359307	NM_024847.4(TMC7):c.380C>T (p.Ser127Phe)	TMC7 (S17F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467174	NM_024847.4(TMC7):c.407G>A (p.Arg136Gln)	TMC7 (R136Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593239	NM_024847.4(TMC7):c.425T>A (p.Leu142Gln)	TMC7 (L32Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178264	NM_024847.4(TMC7):c.436C>T (p.Arg146Trp)	TMC7 (R36W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473546	NM_024847.4(TMC7):c.449G>A (p.Arg150His)	TMC7 (R150H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178265	NM_024847.4(TMC7):c.455T>C (p.Ile152Thr)	TMC7 (I152T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178266	NM_024847.4(TMC7):c.571C>T (p.Leu191Phe)	TMC7 (L191F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404950	NM_024847.4(TMC7):c.676T>A (p.Phe226Ile)	TMC7 (F116I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178267	NM_024847.4(TMC7):c.707G>A (p.Gly236Asp)	TMC7 (G126D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546948	NM_024847.4(TMC7):c.742G>A (p.Gly248Arg)	TMC7 (G138R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178268	NM_024847.4(TMC7):c.785A>G (p.Tyr262Cys)	TMC7 (Y152C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482684	NM_024847.4(TMC7):c.790C>G (p.Leu264Val)	TMC7 (L154V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222389	NM_024847.4(TMC7):c.817A>G (p.Ile273Val)	TMC7 (I163V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2310051	NM_024847.4(TMC7):c.836G>A (p.Ser279Asn)	TMC7 (S279N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178269	NM_024847.4(TMC7):c.866A>G (p.Glu289Gly)	TMC7 (E179G +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2338768	NM_024847.4(TMC7):c.945C>A (p.Phe315Leu)	TMC7 (F205L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2460404	NM_024847.4(TMC7):c.958C>T (p.Arg320Cys)	TMC7 (R210C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2337836	NM_024847.4(TMC7):c.991C>T (p.Arg331Trp)	TMC7 (R221W +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2569182	NM_024847.4(TMC7):c.1069C>T (p.Arg357Cys)	TMC7 (R15C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473492	NM_024847.4(TMC7):c.1070G>A (p.Arg357His)	TMC7 (R247H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260011	NM_024847.4(TMC7):c.1079C>G (p.Ser360Cys)	TMC7 (S360C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370093	NM_024847.4(TMC7):c.1156T>C (p.Phe386Leu)	TMC7 (F276L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250360	NM_024847.4(TMC7):c.1165G>A (p.Glu389Lys)	TMC7 (E279K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481243	NM_024847.4(TMC7):c.1174A>G (p.Lys392Glu)	TMC7 (K282E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178254	NM_024847.4(TMC7):c.1202G>A (p.Gly401Glu)	TMC7 (G401E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607862	NM_024847.4(TMC7):c.1229C>T (p.Pro410Leu)	TMC7 (P410L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347023	NM_024847.4(TMC7):c.1267A>G (p.Met423Val)	TMC7 (M313V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487315	NM_024847.4(TMC7):c.1268T>A (p.Met423Lys)	TMC7 (M313K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178255	NM_024847.4(TMC7):c.1282A>T (p.Ile428Phe)	TMC7 (I318F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714686	NM_024847.4(TMC7):c.1310G>A (p.Gly437Asp)	TMC7 (G95D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2541605	NM_024847.4(TMC7):c.1352G>A (p.Arg451Gln)	TMC7 (R341Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342797	NM_024847.4(TMC7):c.1444A>C (p.Lys482Gln)	TMC7 (K140Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244935	NM_024847.4(TMC7):c.1537G>A (p.Val513Met)	TMC7 (V171M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786287	NM_024847.4(TMC7):c.1553+8C>T	TMC7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2340351	NM_024847.4(TMC7):c.1581C>G (p.Cys527Trp)	TMC7 (C185W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3178256	NM_024847.4(TMC7):c.1646A>G (p.Tyr549Cys)	TMC7 (Y549C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025152	NM_024847.4(TMC7):c.1668C>T (p.Ile556=)	TMC7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3178257	NM_024847.4(TMC7):c.1669G>A (p.Gly557Arg)	TMC7 (G447R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280208	NM_024847.4(TMC7):c.1843A>G (p.Ile615Val)	TMC7 (I273V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178258	NM_024847.4(TMC7):c.1864A>G (p.Ile622Val)	TMC7 (I622V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178259	NM_024847.4(TMC7):c.1898C>T (p.Pro633Leu)	TMC7 (P633L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178260	NM_024847.4(TMC7):c.1928T>C (p.Val643Ala)	TMC7 (V533A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472234	NM_024847.4(TMC7):c.1940C>T (p.Thr647Met)	TMC7 (T537M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232714	NM_024847.4(TMC7):c.1982G>A (p.Gly661Asp)	TMC7 (G319D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542470	NM_024847.4(TMC7):c.1997C>G (p.Ala666Gly)	TMC7 (A556G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178261	NM_024847.4(TMC7):c.2003C>T (p.Ala668Val)	TMC7 (A326V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371920	NM_024847.4(TMC7):c.2072G>A (p.Arg691Gln)	TMC7 (R581Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178262	NM_024847.4(TMC7):c.2113C>T (p.Arg705Cys)	TMC7 (R705C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684798	GRCh37/hg19 16p12.3(chr16:19046826-19831178)x3	CCP110, CLEC19A +9 more	Copy number gain	not provided	GUncertain significance
Select item 2426273	NC_000016.9:g.(?_18794331)_(19089480_?)dup	ARL6IP1, COQ7 +3 more	Duplication	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +263 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 75