ClinVar for Gene (Select 7592) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 223

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3195583	NM_001324144.2(ZNF41):c.778C>T (p.His260Tyr)	ZNF41 (H224Y +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195582	NM_001324144.2(ZNF41):c.522A>C (p.Lys174Asn)	ZNF41 (K138N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195581	NM_001324144.2(ZNF41):c.315G>T (p.Met105Ile)	ZNF41 (M147I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195580	NM_001324144.2(ZNF41):c.1859C>T (p.Ser620Leu)	ZNF41 (S584L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195579	NM_001324144.2(ZNF41):c.1705C>A (p.His569Asn)	ZNF41 (H611N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195578	NM_001324144.2(ZNF41):c.16G>T (p.Asp6Tyr)	ZNF41 (D6Y)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3195577	NM_001324144.2(ZNF41):c.1691C>T (p.Ser564Leu)	ZNF41 (S564L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3047310	NM_001324144.2(ZNF41):c.801G>A (p.Glu267=)	ZNF41	Single nucleotide variant (synonymous variant)	ZNF41-related disorder	GLikely benign
Select item 3026462	NM_001324144.2(ZNF41):c.904G>T (p.Asp302Tyr)	ZNF41 (D216Y +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2690466	NM_001324144.2(ZNF41):c.38C>T (p.Ala13Val)	ZNF41 (A13V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2690465	NM_001324144.2(ZNF41):c.87dup (p.Glu30Ter)	ZNF41 (E30* +4 more)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 2690464	NM_001324144.2(ZNF41):c.1596del (p.Phe532fs)	ZNF41 (F446fs +7 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684979	GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3	ARAF, CDK16 +33 more	Copy number gain	not provided	GUncertain significance
Select item 2660424	NM_001324144.2(ZNF41):c.81G>A (p.Val27=)	ZNF41	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2660423	NM_001324144.2(ZNF41):c.2309G>C (p.Ser770Thr)	ZNF41 (S770T +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2631360	NM_001324144.2(ZNF41):c.94G>A (p.Val32Met)	ZNF41 (V32M +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	ZNF41-related disorder	GUncertain significance
Select item 2629282	NM_001324144.2(ZNF41):c.1229A>G (p.His410Arg)	ZNF41 (H324R +7 more)	Single nucleotide variant (missense variant)	ZNF41-related disorder	GUncertain significance
Select item 2601121	NM_001324144.2(ZNF41):c.1297C>T (p.His433Tyr)	ZNF41 (H399Y +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600272	NM_001324144.2(ZNF41):c.1732C>T (p.His578Tyr)	ZNF41 (H492Y +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591465	NM_001324144.2(ZNF41):c.2120A>G (p.Asn707Ser)	ZNF41 (N621S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589524	NM_001324144.2(ZNF41):c.2144G>A (p.Gly715Glu)	ZNF41 (G629E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559863	NM_001324144.2(ZNF41):c.497G>A (p.Gly166Asp)	ZNF41 (G200D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551286	NM_001324144.2(ZNF41):c.806A>C (p.Lys269Thr)	ZNF41 (K271T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531676	NM_001324144.2(ZNF41):c.351C>G (p.His117Gln)	ZNF41 (H127Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526959	NM_001324144.2(ZNF41):c.2332A>T (p.Ser778Cys)	ZNF41 (S692C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2490278	NM_001324144.2(ZNF41):c.1160A>G (p.Glu387Gly)	ZNF41 (E353G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489563	NM_001324144.2(ZNF41):c.872G>A (p.Arg291Lys)	ZNF41 (R205K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462308	NM_001324144.2(ZNF41):c.439C>T (p.Arg147Cys)	ZNF41 (R113C +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
Select item 2427222	NC_000023.10:g.(?_46466387)_(47489243_?)del	ARAF, CDK16 +15 more	Deletion	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Neurodegeneration with brain iron accumulation 5 +2 more	GUncertain significance
Select item 2422978	NC_000023.10:g.(?_46618120)_(48549553_?)del	ARAF, CDK16 +35 more	Deletion	not provided	GPathogenic
Select item 2399225	NM_001324144.2(ZNF41):c.1693C>T (p.Arg565Cys)	ZNF41 (R529C +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2369228	NM_001324144.2(ZNF41):c.896G>A (p.Arg299His)	ZNF41 (R213H +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352637	NM_001324144.2(ZNF41):c.1832A>G (p.Glu611Gly)	ZNF41 (E611G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310868	NM_001324144.2(ZNF41):c.1106A>T (p.Asp369Val)	ZNF41 (D283V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294830	NM_001324144.2(ZNF41):c.1256C>T (p.Ala419Val)	ZNF41 (A461V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278758	NM_001324144.2(ZNF41):c.79G>T (p.Val27Leu)	ZNF41 (V61L +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2264945	NM_001324144.2(ZNF41):c.832A>G (p.Met278Val)	ZNF41 (M192V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247155	NM_001324144.2(ZNF41):c.842C>T (p.Thr281Ile)	ZNF41 (T195I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240907	NM_001324144.2(ZNF41):c.497G>T (p.Gly166Val)	ZNF41 (G132V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234304	NM_001324144.2(ZNF41):c.914A>G (p.Asn305Ser)	ZNF41 (N219S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232921	NM_001324144.2(ZNF41):c.1191C>A (p.Asp397Glu)	ZNF41 (D311E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219874	NM_001324144.2(ZNF41):c.1871C>T (p.Ala624Val)	ZNF41 (A538V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215628	NM_001324144.2(ZNF41):c.237G>T (p.Leu79Phe)	ZNF41 (L79F +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1789372	NM_001324144.2(ZNF41):c.2307T>C (p.His769=)	ZNF41	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1784303	NM_001324144.2(ZNF41):c.2004T>C (p.Cys668=)	ZNF41	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1769440	NM_001324144.2(ZNF41):c.1302G>A (p.Thr434=)	ZNF41	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1754669	NM_001324144.2(ZNF41):c.664A>G (p.Asn222Asp)	ZNF41 (N222D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1754403	NM_001324144.2(ZNF41):c.65C>T (p.Ser22Leu)	ZNF41 (S22L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GBenign
Select item 1739231	NM_001324144.2(ZNF41):c.426C>T (p.Asp142=)	ZNF41	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1679242	NM_001324144.2(ZNF41):c.149G>A (p.Arg50His)	ZNF41 (R50H +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Global developmental delay +3 more	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1300008	NM_001324144.2(ZNF41):c.824A>T (p.Glu275Val)	ZNF41 (E189V +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1299995	NM_001324144.2(ZNF41):c.823G>C (p.Glu275Gln)	ZNF41 (E189Q +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	not provided	GPathogenic
Select item 1174897	NM_001324144.2(ZNF41):c.88G>A (p.Glu30Lys)	ZNF41 (E30K +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	ZNF41-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1011944	NC_000023.10:g.(?_46696536)_(47436910_?)dup	ARAF, CDK16 +12 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979776	GRCh37/hg19 Xp11.23(chrX:46942052-47379255)x3	INE1, NDUFB11 +8 more	Copy number gain	not provided	GUncertain significance
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685549	GRCh37/hg19 Xp11.23(chrX:47191508-47362805)x3	LINC01560, ZNF157 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ITGB1BP2, RGN +281 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625640	GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)	ARAF, CCDC120 +64 more	Copy number gain	not provided	GPathogenic
Select item 590227	NM_001324144.2(ZNF41):c.1694G>A (p.Arg565His)	ZNF41 (R565H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 590207	NM_001324144.2(ZNF41):c.2215A>T (p.Ile739Leu)	ZNF41 (I739L +7 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder	GUncertain significance
Select item 564840	GRCh37/hg19 Xp11.23(chrX:46647617-47413846)x2	UBA1, CDK16 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	ABCB7, ACE2 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ABCB7, ABCD1 +695 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	PPP1R3F, RGN +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	HDAC8, HDX +731 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 3