ZNF711[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368739	NM_001330574.2(ZNF711):c.-473GGC[10]	ZNF711	Microsatellite (5 prime UTR variant)	Non-syndromic X-linked intellectual disability	GBenign
Select item 368738	NM_001330574.2(ZNF711):c.-473GGC[9]	ZNF711	Microsatellite (5 prime UTR variant)	Non-syndromic X-linked intellectual disability	GLikely benign
Select item 2438693	NM_001330574.2(ZNF711):c.-458_-438del	ZNF711	Deletion (5 prime UTR variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 368741	NM_001330574.2(ZNF711):c.-449A>G	ZNF711	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 97	GBenign
Select item 368740	NM_001330574.2(ZNF711):c.-449delinsGGCGGCGGCG	ZNF711	Indel (5 prime UTR variant)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368742	NM_001330574.2(ZNF711):c.-439dup	ZNF711	Duplication (5 prime UTR variant)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368743	NM_001330574.2(ZNF711):c.-350G>T	ZNF711	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 368744	NM_001330574.2(ZNF711):c.-316T>A	ZNF711	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 914804	NM_001330574.2(ZNF711):c.-297A>T	ZNF711	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, X-linked 97	GBenign
Select item 130847	NM_001330574.2(ZNF711):c.-286+5C>T	ZNF711	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 97	GBenign
Select item 2330210	NM_001330574.2(ZNF711):c.32A>C (p.His11Pro)	ZNF711 (H11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1012666	NM_001330574.2(ZNF711):c.42C>T (p.Asp14=)	ZNF711	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330241	NM_001330574.2(ZNF711):c.61A>G (p.Met21Val)	ZNF711 (M21V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 2428867	NM_001330574.2(ZNF711):c.71A>C (p.Gln24Pro)	ZNF711 (Q24P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661002	NM_001330574.2(ZNF711):c.79+6G>A	ZNF711	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509108	NM_001330574.2(ZNF711):c.80-11_80-8del	ZNF711	Microsatellite (intron variant)	not specified	GLikely benign
Select item 450911	NM_001330574.2(ZNF711):c.97dup (p.Thr33fs)	ZNF711 (T33fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2445705	NM_001330574.2(ZNF711):c.119A>G (p.His40Arg)	ZNF711 (H40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 130849	NM_001330574.2(ZNF711):c.124GTT[1] (p.Val43del)	ZNF711 (V43del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2582549	NM_001330574.2(ZNF711):c.125T>G (p.Val42Gly)	ZNF711 (V42G)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 3026030	NM_001330574.2(ZNF711):c.237G>A (p.Glu79=)	ZNF711	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673248	NM_001330574.2(ZNF711):c.276G>T (p.Ala92=)	ZNF711	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 452437	NM_001330574.2(ZNF711):c.304G>A (p.Glu102Lys)	ZNF711 (E102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212691	NM_001330574.2(ZNF711):c.320A>G (p.Asp107Gly)	ZNF711 (D107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1683562	NM_001330574.2(ZNF711):c.321T>A (p.Asp107Glu)	ZNF711 (D107E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 592139	NM_001330574.2(ZNF711):c.326G>C (p.Gly109Ala)	ZNF711 (G109A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695644	NM_001330574.2(ZNF711):c.334A>G (p.Ile112Val)	ZNF711 (I112V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3227681	NM_001330574.2(ZNF711):c.336C>G (p.Ile112Met)	ZNF711 (I112M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GBenign
Select item 2322568	NM_001330574.2(ZNF711):c.378G>C (p.Glu126Asp)	ZNF711 (E126D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 450345	NM_001330574.2(ZNF711):c.410C>T (p.Pro137Leu)	ZNF711 (P137L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438692	NM_001330574.2(ZNF711):c.416G>A (p.Gly139Glu)	ZNF711 (G139E)	Single nucleotide variant (missense variant)	ZNF711-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 871854	NM_001330574.2(ZNF711):c.445G>T (p.Val149Phe)	ZNF711 (V149F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590256	NM_001330574.2(ZNF711):c.453A>C (p.Gly151=)	ZNF711	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 871855	NM_001330574.2(ZNF711):c.469A>G (p.Met157Val)	ZNF711 (M157V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255097	NM_001330574.2(ZNF711):c.493A>G (p.Thr165Ala)	ZNF711 (T165A)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 3259326	NM_001330574.2(ZNF711):c.531_532dup (p.Gly178fs)	ZNF711 (G178fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3252498	NM_001330574.2(ZNF711):c.541G>T (p.Gly181Cys)	ZNF711 (G181C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3259329	NM_001330574.2(ZNF711):c.547A>G (p.Thr183Ala)	ZNF711 (T183A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807785	NM_001330574.2(ZNF711):c.556A>G (p.Ile186Val)	ZNF711 (I186V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930485	NM_001330574.2(ZNF711):c.569ATG[5] (p.Asp195del)	ZNF711 (D195del)	Microsatellite (inframe_deletion)	Intellectual disability, X-linked 97	GUncertain significance
Select item 212692	NM_001330574.2(ZNF711):c.579T>G (p.Asp193Glu)	ZNF711 (D193E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1309167	NM_001330574.2(ZNF711):c.622+4A>T	ZNF711	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1307412	NM_001330574.2(ZNF711):c.654G>A (p.Met218Ile)	ZNF711 (M218I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302101	NM_001330574.2(ZNF711):c.695A>G (p.Glu232Gly)	ZNF711 (E232G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417762	NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr)	ZNF711 (I244T)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 1241445	NM_001330574.2(ZNF711):c.779-65T>C	ZNF711	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280689	NM_001330574.2(ZNF711):c.779-19G>A	ZNF711	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130851	NM_001330574.2(ZNF711):c.798A>G (p.Thr266=)	ZNF711	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 1313503	NM_001330574.2(ZNF711):c.802A>C (p.Ser268Arg)	ZNF711 (S268R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2296281	NM_001330574.2(ZNF711):c.821A>G (p.His274Arg)	ZNF711 (H274R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 212693	NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr)	ZNF711 (A277T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 3259330	NM_001330574.2(ZNF711):c.870G>A (p.Met290Ile)	ZNF711 (M290I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027243	NM_001330574.2(ZNF711):c.878T>C (p.Met293Thr)	ZNF711 (M293T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438695	NM_001330574.2(ZNF711):c.900AGA[2] (p.Glu302del)	ZNF711 (E302del)	Microsatellite (inframe_deletion)	Intellectual disability, X-linked 97	GUncertain significance
Select item 1263546	NM_001330574.2(ZNF711):c.1055-296T>C	ZNF711	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3045948	NM_001330574.2(ZNF711):c.1055-7_1055-3dup	ZNF711	Duplication (intron variant)	ZNF711-related disorder	GLikely benign
Select item 167865	NM_001330574.2(ZNF711):c.1055-4_1055-3dup	ZNF711	Duplication (intron variant)	not provided	GUncertain significance
Select item 1678069	NM_001330574.2(ZNF711):c.1055-16T>G	ZNF711	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1028742	NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs)	ZNF711 (R310fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability, X-linked 97	GPathogenic
Select item 912842	NM_001330574.2(ZNF711):c.1073C>G (p.Ser358Cys)	ZNF711 (S312C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 754047	NM_001330574.2(ZNF711):c.1089T>C (p.Asp363=)	ZNF711	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1264007	NM_001330574.2(ZNF711):c.1103-155T>A	ZNF711	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3259325	NM_001330574.2(ZNF711):c.1199_1203del (p.Gln400fs)	ZNF711 (Q400fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2375396	NM_001330574.2(ZNF711):c.1208A>G (p.Lys403Arg)	ZNF711 (K357R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1328907	NM_001330574.2(ZNF711):c.1237T>C (p.Trp413Arg)	ZNF711 (W367R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305783	NM_001330574.2(ZNF711):c.1246+4A>T	ZNF711	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1794112	NM_001330574.2(ZNF711):c.1246+20A>G	ZNF711	Single nucleotide variant (intron variant)	Inborn genetic diseases	GBenign
Select item 522041	NM_001330574.2(ZNF711):c.1337G>A (p.Arg446Lys)	ZNF711 (R400K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 422024	NM_001330574.2(ZNF711):c.1351C>A (p.His451Asn)	ZNF711 (H405N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 368745	NM_001330574.2(ZNF711):c.1368G>A (p.Met456Ile)	ZNF711 (M410I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 97 +2 more	GBenign/Likely benign
Select item 495110	NM_001330574.2(ZNF711):c.1377dup (p.Tyr460fs)	ZNF711 (Y414fs +1 more)	Duplication (frameshift variant)	Intellectual disability, X-linked 97	GLikely pathogenic
Select item 1308077	NM_001330574.2(ZNF711):c.1379A>T (p.Tyr460Phe)	ZNF711 (Y414F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985734	NM_001330574.2(ZNF711):c.1387A>T (p.Thr463Ser)	ZNF711 (T417S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3233906	NM_001330574.2(ZNF711):c.1421G>A (p.Ser474Asn)	ZNF711 (S428N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803466	NM_001330574.2(ZNF711):c.1435T>A (p.Leu479Ile)	ZNF711 (L433I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130850	NM_001330574.2(ZNF711):c.1464C>T (p.Val488=)	ZNF711	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 917792	NM_001330574.2(ZNF711):c.1465G>A (p.Asp489Asn)	ZNF711 (D489N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 521141	NM_001330574.2(ZNF711):c.1468A>C (p.Lys490Gln)	ZNF711 (K444Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3033070	NM_001330574.2(ZNF711):c.1574A>C (p.Lys525Thr)	ZNF711 (K479T +1 more)	Single nucleotide variant (missense variant)	ZNF711-related disorder	GUncertain significance
Select item 1035269	NM_001330574.2(ZNF711):c.1595C>T (p.Ala532Val)	ZNF711 (A486V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503260	NM_001330574.2(ZNF711):c.1602A>C (p.Gln534His)	ZNF711 (Q488H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871856	NM_001330574.2(ZNF711):c.1613A>G (p.Asn538Ser)	ZNF711 (N492S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2261899	NM_001330574.2(ZNF711):c.1617G>T (p.Arg539Ser)	ZNF711 (R539S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 437392	NM_001330574.2(ZNF711):c.1630G>A (p.Val544Ile)	ZNF711 (V498I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259328	NM_001330574.2(ZNF711):c.1631T>C (p.Val544Ala)	ZNF711 (V544A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312059	NM_001330574.2(ZNF711):c.1636A>G (p.Ser546Gly)	ZNF711 (S500G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499146	NM_001330574.2(ZNF711):c.1681C>T (p.Arg561Ter)	ZNF711 (R515* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 9763	NM_001330574.2(ZNF711):c.1711A>T (p.Arg571Ter)	ZNF711 (R525* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 97	GPathogenic
Select item 2438694	NM_001330574.2(ZNF711):c.1761G>T (p.Arg587Ser)	ZNF711 (R541S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 912843	NM_001330574.2(ZNF711):c.1773A>G (p.Gln591=)	ZNF711	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 1801189	NM_001330574.2(ZNF711):c.1798T>G (p.Ser600Ala)	ZNF711 (S554A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428858	NM_001330574.2(ZNF711):c.1811A>G (p.Asn604Ser)	ZNF711 (N558S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661003	NM_001330574.2(ZNF711):c.1821A>G (p.Pro607=)	ZNF711	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661004	NM_001330574.2(ZNF711):c.1835A>G (p.His612Arg)	ZNF711 (H566R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212690	NM_001330574.2(ZNF711):c.1838G>T (p.Cys613Phe)	ZNF711 (C567F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 426712	NM_001330574.2(ZNF711):c.1873C>T (p.Arg625Cys)	ZNF711 (R579C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1098583	NM_001330574.2(ZNF711):c.1877A>G (p.His626Arg)	ZNF711 (H580R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 1028239	NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn)	ZNF711 (D582N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3026451	NM_001330574.2(ZNF711):c.1897C>A (p.His633Asn)	ZNF711 (H587N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692491	NM_001330574.2(ZNF711):c.1910A>G (p.Gln637Arg)	ZNF711 (Q637R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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