ZNF33A[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic
Select item 147611	GRCh38/hg38 10p11.21-11.1(chr10:37951330-38067080)x1	LOC130003694, LOC130003695 +4 more	Copy number loss	See cases	GBenign
Select item 3195244	NM_006954.2(ZNF33A):c.118G>A (p.Val40Met)	ZNF33A (V61M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2614438	NM_006954.2(ZNF33A):c.124C>A (p.Leu42Met)	ZNF33A (L63M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195253	NM_006954.2(ZNF33A):c.247C>T (p.Pro83Ser)	ZNF33A (P104S +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 152173	GRCh38/hg38 10p11.1(chr10:38052840-38766476)x4	LINC00999, LOC130003698 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2307440	NM_006954.2(ZNF33A):c.268C>G (p.His90Asp)	ZNF33A (H108D +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482846	NM_006954.2(ZNF33A):c.292A>G (p.Asn98Asp)	ZNF33A (N105D +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237674	NM_006954.2(ZNF33A):c.374C>T (p.Pro125Leu)	ZNF33A (P124L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223541	NM_006954.2(ZNF33A):c.400C>G (p.Pro134Ala)	ZNF33A (P91A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195255	NM_006954.2(ZNF33A):c.448A>G (p.Asn150Asp)	ZNF33A (N171D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238784	NM_006954.2(ZNF33A):c.478A>T (p.Ile160Leu)	ZNF33A (I160L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335523	NM_006954.2(ZNF33A):c.517T>G (p.Cys173Gly)	ZNF33A (C191G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195256	NM_006954.2(ZNF33A):c.550G>A (p.Glu184Lys)	ZNF33A (E141K +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458943	NM_006954.2(ZNF33A):c.596C>T (p.Thr199Ile)	ZNF33A (T156I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241315	NM_006954.2(ZNF33A):c.661T>G (p.Tyr221Asp)	ZNF33A (Y143D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195257	NM_006954.2(ZNF33A):c.676G>A (p.Glu226Lys)	ZNF33A (E244K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335524	NM_006954.2(ZNF33A):c.679A>G (p.Thr227Ala)	ZNF33A (T245A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488563	NM_006954.2(ZNF33A):c.697G>A (p.Val233Ile)	ZNF33A (V190I +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195259	NM_006954.2(ZNF33A):c.724G>A (p.Ala242Thr)	ZNF33A (A249T +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336667	NM_006954.2(ZNF33A):c.760A>G (p.Arg254Gly)	ZNF33A (R142G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245844	NM_006954.2(ZNF33A):c.770G>T (p.Cys257Phe)	ZNF33A (C257F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195260	NM_006954.2(ZNF33A):c.872C>T (p.Ser291Phe)	ZNF33A (S291F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195261	NM_006954.2(ZNF33A):c.880C>T (p.His294Tyr)	ZNF33A (H182Y +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195262	NM_006954.2(ZNF33A):c.881A>T (p.His294Leu)	ZNF33A (H251L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302510	NM_006954.2(ZNF33A):c.882T>G (p.His294Gln)	ZNF33A (H294Q +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2331577	NM_006954.2(ZNF33A):c.907T>A (p.Cys303Ser)	ZNF33A (C260S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537489	NM_006954.2(ZNF33A):c.942G>T (p.Leu314Phe)	ZNF33A (L313F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206936	NM_006954.2(ZNF33A):c.982C>T (p.His328Tyr)	ZNF33A (H250Y +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318795	NM_006954.2(ZNF33A):c.1106A>C (p.Lys369Thr)	ZNF33A (K257T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195242	NM_006954.2(ZNF33A):c.1169G>T (p.Cys390Phe)	ZNF33A (C347F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195243	NM_006954.2(ZNF33A):c.1177G>A (p.Ala393Thr)	ZNF33A (A350T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304843	NM_006954.2(ZNF33A):c.1187A>G (p.His396Arg)	ZNF33A (H318R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392585	NM_006954.2(ZNF33A):c.1207C>T (p.His403Tyr)	ZNF33A (H424Y +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250988	NM_006954.2(ZNF33A):c.1223C>G (p.Thr408Arg)	ZNF33A (T296R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195245	NM_006954.2(ZNF33A):c.1250C>T (p.Ala417Val)	ZNF33A (A435V +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2463900	NM_006954.2(ZNF33A):c.1496G>A (p.Cys499Tyr)	ZNF33A (C498Y +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377851	NM_006954.2(ZNF33A):c.1501G>C (p.Ala501Pro)	ZNF33A (A522P +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335521	NM_006954.2(ZNF33A):c.1544A>G (p.His515Arg)	ZNF33A (H403R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592291	NM_006954.2(ZNF33A):c.1637C>T (p.Thr546Ile)	ZNF33A (T545I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476108	NM_006954.2(ZNF33A):c.1642A>G (p.Thr548Ala)	ZNF33A (T470A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195246	NM_006954.2(ZNF33A):c.1699A>G (p.Thr567Ala)	ZNF33A (T455A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550559	NM_006954.2(ZNF33A):c.1765A>G (p.Ile589Val)	ZNF33A (I588V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195247	NM_006954.2(ZNF33A):c.1820A>G (p.Lys607Arg)	ZNF33A (K606R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486189	NM_006954.2(ZNF33A):c.1906C>T (p.Pro636Ser)	ZNF33A (P635S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195248	NM_006954.2(ZNF33A):c.1979C>T (p.Thr660Ile)	ZNF33A (T659I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195249	NM_006954.2(ZNF33A):c.2027T>G (p.Val676Gly)	ZNF33A (V633G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377527	NM_006954.2(ZNF33A):c.2042T>C (p.Ile681Thr)	ZNF33A (I681T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195250	NM_006954.2(ZNF33A):c.2063C>T (p.Thr688Met)	ZNF33A (T706M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288790	NM_006954.2(ZNF33A):c.2103C>A (p.Phe701Leu)	ZNF33A (F589L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195251	NM_006954.2(ZNF33A):c.2113A>G (p.Lys705Glu)	ZNF33A (K662E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932324	NM_006954.2(ZNF33A):c.2139G>A (p.Arg713=)	ZNF33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411441	NM_006954.2(ZNF33A):c.2171A>T (p.Asn724Ile)	ZNF33A (N724I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459340	NM_006954.2(ZNF33A):c.2194C>T (p.Arg732Cys)	ZNF33A (R753C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323417	NM_006954.2(ZNF33A):c.2236G>A (p.Glu746Lys)	ZNF33A (E703K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514841	NM_006954.2(ZNF33A):c.2257A>G (p.Thr753Ala)	ZNF33A (T641A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370166	NM_006954.2(ZNF33A):c.2314A>G (p.Ile772Val)	ZNF33A (I660V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472461	NM_006954.2(ZNF33A):c.2359C>T (p.Pro787Ser)	ZNF33A (P808S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195252	NM_006954.2(ZNF33A):c.2369G>A (p.Ser790Asn)	ZNF33A (S790N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527582	GRCh37/hg19 10p11.21-11.1(chr10:37697888-38677334)	MTRNR2L7, ZNF248 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 815339	GRCh37/hg19 10p11.1(chr10:38064033-38900673)x3	ZNF37A, ZNF248 +2 more	Copy number gain	not provided	GLikely benign
Select item 815338	GRCh37/hg19 10p11.21-11.1(chr10:37189335-38900673)x3	ZNF37A, ZNF25 +4 more	Copy number gain	not provided	GLikely benign
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 563782	GRCh37/hg19 10p11.21-11.1(chr10:36797203-38900673)x3	MTRNR2L7, ANKRD30A +4 more	Copy number gain	not provided	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 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +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	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 72