ZNF81[gene] and "single gene"[properties] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 130859	NM_007137.5(ZNF81):c.8C>T (p.Ala3Val)	ZNF81 (A3V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 212694	NM_007137.5(ZNF81):c.12C>T (p.Asn4=)	ZNF81	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 130853	NM_007137.5(ZNF81):c.18C>T (p.Asp6=)	ZNF81	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
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 590232	NM_007137.5(ZNF81):c.129A>G (p.Arg43=)	ZNF81	Single nucleotide variant (synonymous variant +1 more)	History of neurodevelopmental disorder +1 more	GLikely benign
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 95449	NM_007137.5(ZNF81):c.181+8C>T	ZNF81	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
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 212696	NM_007137.5(ZNF81):c.350G>A (p.Gly117Asp)	ZNF81 (G117D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 130855	NM_007137.5(ZNF81):c.350G>T (p.Gly117Val)	ZNF81 (G117V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 212697	NM_007137.5(ZNF81):c.417A>G (p.Ile139Met)	ZNF81 (I139M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 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 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 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 130856	NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser)	ZNF81 (N157S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 212698	NM_007137.5(ZNF81):c.509A>G (p.Lys170Arg)	ZNF81 (K170R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 9759	NM_007137.5(ZNF81):c.536G>A (p.Ser179Asn)	ZNF81 (S179N)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 45	GUncertain significance
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	GLikely benign
Select item 130857	NM_007137.5(ZNF81):c.554C>T (p.Ser185Leu)	ZNF81 (S185L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 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 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 130858	NM_007137.5(ZNF81):c.638C>A (p.Ala213Glu)	ZNF81 (A213E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 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 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 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 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 3259648	NM_007137.5(ZNF81):c.980A>G (p.Glu327Gly)	ZNF81 (E327G)	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)	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 130852	NM_007137.5(ZNF81):c.1264G>A (p.Ala422Thr)	ZNF81 (A422T)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 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 212695	NM_007137.5(ZNF81):c.1495A>G (p.Ile499Val)	ZNF81 (I499V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
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 3039288	NM_007137.5(ZNF81):c.1560T>C (p.His520=)	ZNF81	Single nucleotide variant (synonymous variant +1 more)	ZNF81-related disorder	GBenign
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 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 3259650	NM_007137.5(ZNF81):c.1733C>G (p.Thr578Arg)	ZNF81 (T578R)	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 444801	NM_007137.5(ZNF81):c.1883del (p.His628fs)	ZNF81 (H628fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 3259649	NM_007137.5(ZNF81):c.1891A>G (p.Ile631Val)	ZNF81 (I631V)	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 130854	NM_007137.5(ZNF81):c.1911G>A (p.Pro637=)	ZNF81	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 368401	NM_007137.5(ZNF81):c.*176del	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
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 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 2660438	NM_007137.5(ZNF81):c.*7310G>C	ZNF81 (S99T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 442324	GRCh37/hg19 Xp11.23(chrX:47580733-47711302)x3	ZNF81	Copy number gain	See cases	GUncertain significance

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Items: 56