ClinVar for Gene (Select 641339) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 210

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3197637	NM_001190417.2(ZNF674):c.977T>C (p.Ile326Thr)	ZNF674 (I325T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197636	NM_001190417.2(ZNF674):c.921A>T (p.Lys307Asn)	ZNF674 (K312N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197635	NM_001190417.2(ZNF674):c.751G>A (p.Glu251Lys)	ZNF674 (E250K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197634	NM_001190417.2(ZNF674):c.256G>A (p.Glu86Lys)	ZNF674 (E86K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197633	NM_001190417.2(ZNF674):c.251T>C (p.Val84Ala)	ZNF674 (V83A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197632	NM_001190417.2(ZNF674):c.169A>G (p.Ile57Val)	ZNF674 (I57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197631	NM_001190417.2(ZNF674):c.1336G>A (p.Gly446Arg)	ZNF674 (G451R +2 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 3039339	NM_001190417.2(ZNF674):c.1014G>A (p.Thr338=)	ZNF674	Single nucleotide variant (synonymous variant)	ZNF674-related disorder	GLikely benign
Select item 3036471	NM_001190417.2(ZNF674):c.1309G>T (p.Glu437Ter)	ZNF674 (E436* +2 more)	Single nucleotide variant (nonsense)	ZNF674-related disorder	GLikely benign
Select item 3034881	NM_001190417.2(ZNF674):c.255C>T (p.Asp85=)	ZNF674	Single nucleotide variant (synonymous variant)	ZNF674-related disorder	GLikely benign
Select item 3034837	NM_001190417.2(ZNF674):c.1619G>T (p.Arg540Ile)	ZNF674 (R539I +2 more)	Single nucleotide variant (missense variant)	ZNF674-related disorder	GLikely benign
Select item 3026980	NM_001190417.2(ZNF674):c.538A>C (p.Asn180His)	ZNF674 (N179H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690468	NM_001190417.2(ZNF674):c.1540C>A (p.His514Asn)	ZNF674 (H513N +2 more)	Single nucleotide variant (missense 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 2685063	GRCh37/hg19 Xp11.4-11.23(chrX:42046069-46491183)x0	CHST7, DIPK2B +12 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 2660381	NM_001190417.2(ZNF674):c.297G>T (p.Leu99=)	ZNF674	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660380	NM_001190417.2(ZNF674):c.438G>A (p.Arg146=)	ZNF674	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660379	NM_001190417.2(ZNF674):c.1668A>G (p.Ala556=)	ZNF674	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599042	NM_001190417.2(ZNF674):c.773A>G (p.Gln258Arg)	ZNF674 (Q258R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569315	NM_001190417.2(ZNF674):c.869T>C (p.Leu290Pro)	ZNF674 (L290P +2 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 2490117	NM_001190417.2(ZNF674):c.14A>G (p.Gln5Arg)	ZNF674 (Q5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456303	NM_001190417.2(ZNF674):c.727G>A (p.Gly243Arg)	ZNF674 (G242R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405038	NM_001190417.2(ZNF674):c.587G>A (p.Arg196Gln)	ZNF674 (R201Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364010	NM_001190417.2(ZNF674):c.1050G>C (p.Glu350Asp)	ZNF674 (E349D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276667	NM_001190417.2(ZNF674):c.824A>G (p.Tyr275Cys)	ZNF674 (Y280C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260177	NM_001190417.2(ZNF674):c.1654G>T (p.Asp552Tyr)	ZNF674 (D552Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227726	NM_001190417.2(ZNF674):c.74T>G (p.Leu25Arg)	ZNF674 (L25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808839	GRCh37/hg19 Xp11.3-11.23(chrX:46029115-46509514)x3	CHST7, KRBOX4 +2 more	Copy number gain	not provided	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 1778241	NM_001190417.2(ZNF674):c.1681T>C (p.Ser561Pro)	ZNF674 (S560P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760665	NM_001190417.2(ZNF674):c.764C>A (p.Ala255Asp)	ZNF674 (A255D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1755388	NM_001190417.2(ZNF674):c.662G>A (p.Cys221Tyr)	ZNF674 (C226Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1526798	GRCh37/hg19 Xp11.3-11.23(chrX:46029114-46504089)	CHST7, KRBOX4 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1342846	NM_001190417.2(ZNF674):c.1445A>G (p.His482Arg)	ZNF674 (H481R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341256	GRCh37/hg19 Xp11.3-11.23(chrX:45888817-46408619)x2	KRBOX4, ZNF674	Copy number gain	not provided	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 1206390	NM_001190417.2(ZNF674):c.1069C>A (p.His357Asn)	ZNF674 (H356N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	MAMLD1, MAOA +818 more	Copy number loss	not provided	GPathogenic
Select item 1175843	GRCh37/hg19 Xp11.3-11.23(chrX:44879855-46541970)x1	CHST7, DIPK2B +6 more	Copy number loss	not provided	GPathogenic
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 830980	NC_000023.10:g.(?_45605561)_(46952346_?)del	CHST7, JADE3 +7 more	Deletion	not provided	GPathogenic
Select item 816345	GRCh37/hg19 Xp11.3-11.23(chrX:46331758-46999539)x2	CHST7, RP2 +5 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 688167	GRCh37/hg19 Xp11.3-11.23(chrX:46371061-46408859)x2	ZNF674	Copy number gain	not provided	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 686790	GRCh37/hg19 Xp11.3-11.23(chrX:46371128-46408674)x3	ZNF674	Copy number gain	not provided	GUncertain significance
Select item 686773	GRCh37/hg19 Xp11.3-11.23(chrX:46371061-46408674)x3	ZNF674	Copy number gain	not provided	GUncertain significance
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 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 684889	GRCh37/hg19 Xp11.3-11.23(chrX:46205228-46617253)x3	CHST7, KRBOX4 +2 more	Copy number gain	not provided	GUncertain significance
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 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	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 564838	GRCh37/hg19 Xp11.3-11.23(chrX:46029114-46504089)x2	ZNF674, SLC9A7 +2 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 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	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	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +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
Select item 442436	GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2	ARAF, CDK16 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	GAGE1, GAGE12H +390 more	Copy number loss	See cases	GPathogenic
Select item 442224	GRCh37/hg19 Xp11.4-11.23(chrX:41150139-46528262)x1	CASK, CHST7 +17 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ARSF, XAGE2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	WDR45, WNK3 +313 more	Copy number loss	See cases	GPathogenic
Select item 441809	GRCh37/hg19 Xp11.3-11.23(chrX:45888817-46542875)x3	CHST7, KRBOX4 +2 more	Copy number gain	See cases	GUncertain significance
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	FAM133A, FAM156A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	FOXO4, FOXP3 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	TMSB4X, TNMD +819 more	Copy number gain	See cases	GPathogenic
Select item 395159	GRCh37/hg19 Xp11.3-11.23(chrX:46366112-46407858)x2	ZNF674	Copy number gain	See cases	GUncertain significance
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	GPKOW, PIN4 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	CT47A11, CT47A12 +818 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	CT45A2, PIN4 +819 more	Copy number loss	See cases	GPathogenic
Select item 393781	GRCh37/hg19 Xp11.3(chrX:45772028-46388643)x2	KRBOX4, ZNF674	Copy number gain	See cases	GUncertain significance

<< First< Prev

Page of 3