7582[Gene ID] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 148446	GRCh38/hg38 10q11.21(chr10:42112187-42656364)x3	LINC00839, LOC124403943 +6 more	Copy number gain	See cases	GLikely benign
Select item 146794	GRCh38/hg38 10q11.21(chr10:42334773-42860962)x1	BMS1, LINC00839 +13 more	Copy number loss	See cases	GUncertain significance
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 148036	GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3	BMS1, CSGALNACT2 +41 more	Copy number gain	See cases	GUncertain significance
Select item 3335535	NM_006955.3(ZNF33B):c.2257A>G (p.Thr753Ala)	ZNF33B (T641A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355971	NM_006955.3(ZNF33B):c.2195G>A (p.Arg732His)	ZNF33B (R620H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305240	NM_006955.3(ZNF33B):c.2188T>G (p.Phe730Val)	ZNF33B (F730V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195270	NM_006955.3(ZNF33B):c.2180G>C (p.Gly727Ala)	ZNF33B (G615A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391563	NM_006955.3(ZNF33B):c.2126C>G (p.Thr709Arg)	ZNF33B (T716R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335527	NM_006955.3(ZNF33B):c.2116T>A (p.Ser706Thr)	ZNF33B (S706T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195269	NM_006955.3(ZNF33B):c.2063C>T (p.Thr688Met)	ZNF33B (T576M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364668	NM_006955.3(ZNF33B):c.2042T>C (p.Ile681Thr)	ZNF33B (I681T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221142	NM_006955.3(ZNF33B):c.1936T>C (p.Phe646Leu)	ZNF33B (F646L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335532	NM_006955.3(ZNF33B):c.1931A>G (p.Lys644Arg)	ZNF33B (K644R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274815	NM_006955.3(ZNF33B):c.1914A>T (p.Glu638Asp)	ZNF33B (E638D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333527	NM_006955.3(ZNF33B):c.1865C>T (p.Ser622Leu)	ZNF33B (S622L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403664	NM_006955.3(ZNF33B):c.1847A>G (p.Lys616Arg)	ZNF33B (K504R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409390	NM_006955.3(ZNF33B):c.1802G>A (p.Arg601Lys)	ZNF33B (R489K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535308	NM_006955.3(ZNF33B):c.1775A>G (p.Asn592Ser)	ZNF33B (N592S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522662	NM_006955.3(ZNF33B):c.1753G>A (p.Glu585Lys)	ZNF33B (E473K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195268	NM_006955.3(ZNF33B):c.1747T>G (p.Cys583Gly)	ZNF33B (C583G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335528	NM_006955.3(ZNF33B):c.1706C>T (p.Ser569Phe)	ZNF33B (S569F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335530	NM_006955.3(ZNF33B):c.1702C>T (p.Leu568Phe)	ZNF33B (L456F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359975	NM_006955.3(ZNF33B):c.1669G>C (p.Glu557Gln)	ZNF33B (E557Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195267	NM_006955.3(ZNF33B):c.1661C>T (p.Ala554Val)	ZNF33B (A442V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195266	NM_006955.3(ZNF33B):c.1637C>T (p.Thr546Met)	ZNF33B (T434M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195265	NM_006955.3(ZNF33B):c.1636A>G (p.Thr546Ala)	ZNF33B (T434A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748186	NM_006955.3(ZNF33B):c.1564T>G (p.Leu522Val)	ZNF33B (L410V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2368212	NM_006955.3(ZNF33B):c.1552A>G (p.Ile518Val)	ZNF33B (I518V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263939	NM_006955.3(ZNF33B):c.1547A>T (p.Gln516Leu)	ZNF33B (Q523L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339076	NM_006955.3(ZNF33B):c.1538C>T (p.Thr513Ile)	ZNF33B (T513I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609537	NM_006955.3(ZNF33B):c.1517T>G (p.Phe506Cys)	ZNF33B (F513C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335536	NM_006955.3(ZNF33B):c.1492G>A (p.Glu498Lys)	ZNF33B (E386K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486905	NM_006955.3(ZNF33B):c.1459C>T (p.His487Tyr)	ZNF33B (H487Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268985	NM_006955.3(ZNF33B):c.1405T>G (p.Phe469Val)	ZNF33B (F476V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364206	NM_006955.3(ZNF33B):c.1382G>C (p.Arg461Thr)	ZNF33B (R461T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537490	NM_006955.3(ZNF33B):c.1282C>T (p.Leu428Phe)	ZNF33B (L316F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309389	NM_006955.3(ZNF33B):c.1211A>G (p.Gln404Arg)	ZNF33B (Q404R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281002	NM_006955.3(ZNF33B):c.1202C>T (p.Thr401Ile)	ZNF33B (T289I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335534	NM_006955.3(ZNF33B):c.1169G>A (p.Cys390Tyr)	ZNF33B (C278Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335529	NM_006955.3(ZNF33B):c.1103A>G (p.Glu368Gly)	ZNF33B (E256G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790082	NM_006955.3(ZNF33B):c.1067A>G (p.His356Arg)	ZNF33B (H244R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2550560	NM_006955.3(ZNF33B):c.950C>T (p.Ser317Leu)	ZNF33B (S205L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220248	NM_006955.3(ZNF33B):c.913G>A (p.Glu305Lys)	ZNF33B (E193K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195277	NM_006955.3(ZNF33B):c.892G>A (p.Val298Met)	ZNF33B (V186M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541933	NM_006955.3(ZNF33B):c.852A>T (p.Leu284Phe)	ZNF33B (L284F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335531	NM_006955.3(ZNF33B):c.717A>T (p.Arg239Ser)	ZNF33B (R239S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195276	NM_006955.3(ZNF33B):c.710G>T (p.Arg237Leu)	ZNF33B (R125L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335525	NM_006955.3(ZNF33B):c.709C>T (p.Arg237Trp)	ZNF33B (R244W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242180	NM_006955.3(ZNF33B):c.590G>A (p.Arg197Lys)	ZNF33B (R204K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261896	NM_006955.3(ZNF33B):c.563G>T (p.Arg188Leu)	ZNF33B (R195L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518309	NM_006955.3(ZNF33B):c.559A>G (p.Thr187Ala)	ZNF33B (T187A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335537	NM_006955.3(ZNF33B):c.504C>G (p.Asp168Glu)	ZNF33B (D56E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195275	NM_006955.3(ZNF33B):c.503A>G (p.Asp168Gly)	ZNF33B (D56G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195274	NM_006955.3(ZNF33B):c.497A>T (p.Lys166Met)	ZNF33B (K166M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195273	NM_006955.3(ZNF33B):c.388G>A (p.Val130Ile)	ZNF33B (V130I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335526	NM_006955.3(ZNF33B):c.337A>G (p.Met113Val)	ZNF33B (M113V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195271	NM_006955.3(ZNF33B):c.296A>G (p.Gln99Arg)	ZNF33B (Q106R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568722	NM_006955.3(ZNF33B):c.262G>A (p.Ala88Thr)	ZNF33B (A88T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3195272	NM_006955.3(ZNF33B):c.35T>A (p.Val12Glu)	ZNF33B (V12E +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2391026	NM_006955.3(ZNF33B):c.23T>A (p.Phe8Tyr)	ZNF33B (F15Y +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2394698	NM_006955.3(ZNF33B):c.21G>T (p.Lys7Asn)	ZNF33B (K14N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2227532	NM_006955.3(ZNF33B):c.14A>G (p.Asp5Gly)	ZNF33B (D12G +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443388	GRCh37/hg19 10q11.21(chr10:42706947-44489498)x3	BMS1, CSGALNACT2 +8 more	Copy number gain	See cases	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442199	GRCh37/hg19 10q11.21(chr10:42706947-43294214)x4	BMS1, ZNF33B	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 77