ClinVar for Gene (Select 347344) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3198571	NM_007137.5(ZNF81):c.1888A>T (p.Thr630Ser)	ZNF81 (T630S)	Single nucleotide variant (missense variant +1 more)	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 3047681	NM_007137.5(ZNF81):c.147A>G (p.Val49=)	ZNF81	Single nucleotide variant (synonymous variant +1 more)	ZNF81-related disorder	GLikely benign
Select item 3046454	NM_007137.5(ZNF81):c.465C>T (p.Phe155=)	ZNF81	Single nucleotide variant (synonymous variant +1 more)	ZNF81-related disorder	GLikely benign
Select item 3042874	NM_007137.5(ZNF81):c.602A>T (p.His201Leu)	ZNF81 (H201L)	Single nucleotide variant (missense variant +1 more)	ZNF81-related disorder	GLikely benign
Select item 3039288	NM_007137.5(ZNF81):c.1560T>C (p.His520=)	ZNF81	Single nucleotide variant (synonymous variant +1 more)	ZNF81-related disorder	GBenign
Select item 2690471	NM_007137.5(ZNF81):c.949C>T (p.Leu317Phe)	ZNF81 (L317F)	Single nucleotide variant (missense variant +1 more)	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 2660438	NM_007137.5(ZNF81):c.*7310G>C	ZNF81 (S99T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660437	NM_007137.5(ZNF81):c.461C>T (p.Thr154Ile)	ZNF81 (T154I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660436	NM_007137.5(ZNF81):c.216G>A (p.Lys72=)	ZNF81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603630	NM_007137.5(ZNF81):c.230A>G (p.Glu77Gly)	ZNF81 (E77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591773	NM_007137.5(ZNF81):c.591G>T (p.Lys197Asn)	ZNF81 (K197N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535999	NM_007137.5(ZNF81):c.1784C>T (p.Pro595Leu)	ZNF81 (P595L)	Single nucleotide variant (missense variant +1 more)	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 2496104	NM_007137.5(ZNF81):c.1349C>G (p.Ala450Gly)	ZNF81 (A450G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	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 2337431	NM_007137.5(ZNF81):c.828T>G (p.Cys276Trp)	ZNF81 (C276W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330212	NM_007137.5(ZNF81):c.74A>T (p.Asp25Val)	ZNF81 (D25V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321470	NM_007137.5(ZNF81):c.782T>G (p.Leu261Arg)	ZNF81 (L261R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316028	NM_007137.5(ZNF81):c.444A>T (p.Lys148Asn)	ZNF81 (K148N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306136	NM_007137.5(ZNF81):c.1082A>G (p.Asn361Ser)	ZNF81 (N361S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2300216	NM_007137.5(ZNF81):c.1254G>C (p.Glu418Asp)	ZNF81 (E418D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282058	NM_007137.5(ZNF81):c.457A>T (p.Thr153Ser)	ZNF81 (T153S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272878	NM_007137.5(ZNF81):c.952A>G (p.Ser318Gly)	ZNF81 (S318G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266321	NM_007137.5(ZNF81):c.1649G>C (p.Gly550Ala)	ZNF81 (G550A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219628	NM_007137.5(ZNF81):c.1038T>G (p.Ile346Met)	ZNF81 (I346M)	Single nucleotide variant (missense variant +1 more)	ZNF81-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2217020	NM_007137.5(ZNF81):c.742C>T (p.Arg248Cys)	ZNF81 (R248C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205706	NM_007137.5(ZNF81):c.1721G>A (p.Arg574Lys)	ZNF81 (R574K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1992382	NM_007137.5(ZNF81):c.1897A>T (p.Thr633Ser)	ZNF81 (T633S)	Single nucleotide variant (missense variant +1 more)	Non-syndromic X-linked intellectual disability	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 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 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 1337603	NM_007137.5(ZNF81):c.-10C>T	ZNF81	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1336173	NM_007137.5(ZNF81):c.1539C>A (p.Leu513=)	ZNF81	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	MAMLD1, MAOA +818 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 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 816346	GRCh37/hg19 Xp11.23(chrX:47686106-48283388)x3	SSX1, SPACA5 +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 686352	GRCh37/hg19 Xp11.23(chrX:47633270-48271336)x2	SPACA5, SPACA5B +8 more	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 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 590247	NM_007137.5(ZNF81):c.550C>G (p.Leu184Val)	ZNF81 (L184V)	Single nucleotide variant (missense variant +1 more)	History of neurodevelopmental disorder +1 more	GLikely benign
Select item 590232	NM_007137.5(ZNF81):c.129A>G (p.Arg43=)	ZNF81	Single nucleotide variant (synonymous variant +1 more)	History of neurodevelopmental disorder +1 more	GBenign/Likely benign
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	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +1 more	GPathogenic
Select item 444801	NM_007137.5(ZNF81):c.1883del (p.His628fs)	ZNF81 (H628fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 442662	GRCh37/hg19 Xp11.23(chrX:47768271-47859630)x2	ZNF182, ZNF81	Copy number gain	See cases	GUncertain significance
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 442324	GRCh37/hg19 Xp11.23(chrX:47580733-47711302)x3	ZNF81	Copy number gain	See cases	GUncertain significance
Select item 442202	GRCh37/hg19 Xp11.23(chrX:47768271-48053241)x3	SPACA5, SPACA5B +4 more	Copy number gain	See cases	GUncertain significance
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 437394	NM_007137.5(ZNF81):c.1283C>T (p.Thr428Ile)	ZNF81 (T428I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 437393	NM_007137.5(ZNF81):c.598A>C (p.Lys200Gln)	ZNF81 (K200Q)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 394569	GRCh37/hg19 Xp11.23(chrX:47705458-47863717)x3	ZNF182, ZNF81	Copy number gain	See cases	GLikely pathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	CT45A2, PIN4 +819 more	Copy number loss	See cases	GPathogenic
Select item 368430	NM_007137.5(ZNF81):c.*3399T>A	ZNF81	Single nucleotide variant (3 prime UTR variant +1 more)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368422	NM_007137.5(ZNF81):c.*2268del	ZNF81	Deletion (3 prime UTR variant +1 more)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368420	NM_007137.5(ZNF81):c.2171_2172del	ZNF81	Deletion (3 prime UTR variant +1 more)	Non-syndromic X-linked intellectual disability	GUncertain significance

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