ClinVar for Gene (Select 7552) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3363881	NM_001330574.2(ZNF711):c.202G>A (p.Ala68Thr)	ZNF711 (A68T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361198	NM_001330574.2(ZNF711):c.589A>G (p.Lys197Glu)	ZNF711 (K197E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360280	NM_001330574.2(ZNF711):c.689C>T (p.Ser230Leu)	ZNF711 (S230L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360151	NM_001330574.2(ZNF711):c.20G>A (p.Ser7Asn)	ZNF711 (S7N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347528	NM_001330574.2(ZNF711):c.595A>G (p.Thr199Ala)	ZNF711 (T199A)	Single nucleotide variant (missense variant)	ZNF711-related disorder	GUncertain significance
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 3259329	NM_001330574.2(ZNF711):c.547A>G (p.Thr183Ala)	ZNF711 (T183A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3259326	NM_001330574.2(ZNF711):c.531_532dup (p.Gly178fs)	ZNF711 (G178fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
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 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 3252498	NM_001330574.2(ZNF711):c.541G>T (p.Gly181Cys)	ZNF711 (G181C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 3227681	NM_001330574.2(ZNF711):c.336C>G (p.Ile112Met)	ZNF711 (I112M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GBenign
Select item 3062559	GRCh37/hg19 Xq21.1-21.2(chrX:84410317-85199316)	CHM, POF1B +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3054392	NM_001330574.2(ZNF711):c.2234C>T (p.Thr745Ile)	ZNF711 (T699I +1 more)	Single nucleotide variant (missense variant)	ZNF711-related disorder	GLikely benign
Select item 3045948	NM_001330574.2(ZNF711):c.1055-7_1055-3dup	ZNF711	Duplication (intron variant)	ZNF711-related disorder	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 3027243	NM_001330574.2(ZNF711):c.878T>C (p.Met293Thr)	ZNF711 (M293T)	Single nucleotide variant (missense variant)	not provided	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 3026030	NM_001330574.2(ZNF711):c.237G>A (p.Glu79=)	ZNF711	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2921256	NM_001330574.2(ZNF711):c.2217del (p.Lys739fs)	ZNF711 (K739fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 97	GLikely pathogenic
Select item 2698374	NM_001330574.2(ZNF711):c.2384dup (p.Asn795fs)	ZNF711 (N749fs +1 more)	Duplication (frameshift 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
Select item 2685711	GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1	ABCB7, APOOL +39 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2673248	NM_001330574.2(ZNF711):c.276G>T (p.Ala92=)	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 2661003	NM_001330574.2(ZNF711):c.1821A>G (p.Pro607=)	ZNF711	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661002	NM_001330574.2(ZNF711):c.79+6G>A	ZNF711	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2614792	NM_001330574.2(ZNF711):c.2155G>C (p.Asp719His)	ZNF711 (D719H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614416	NM_001330574.2(ZNF711):c.2050A>G (p.Ser684Gly)	ZNF711 (S638G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2580794	NM_001330574.2(ZNF711):c.1928A>G (p.His643Arg)	ZNF711 (H597R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577813	NM_001330574.2(ZNF711):c.2051G>A (p.Ser684Asn)	ZNF711 (S638N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 2499146	NM_001330574.2(ZNF711):c.1681C>T (p.Arg561Ter)	ZNF711 (R515* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely 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 2438695	NM_001330574.2(ZNF711):c.900AGA[2] (p.Glu302del)	ZNF711 (E302del)	Microsatellite (inframe_deletion)	Intellectual disability, X-linked 97	GUncertain significance
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 2438693	NM_001330574.2(ZNF711):c.-458_-438del	ZNF711	Deletion (5 prime UTR variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 2438692	NM_001330574.2(ZNF711):c.416G>A (p.Gly139Glu)	ZNF711 (G139E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 97	GUncertain significance
Select item 2430809	NM_001330574.2(ZNF711):c.2299C>T (p.Arg767Ter)	ZNF711 (R721* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 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 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 2330210	NM_001330574.2(ZNF711):c.32A>C (p.His11Pro)	ZNF711 (H11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325050	NM_001330574.2(ZNF711):c.2416C>A (p.Leu806Ile)	ZNF711 (L806I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2296281	NM_001330574.2(ZNF711):c.821A>G (p.His274Arg)	ZNF711 (H274R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2230595	NM_001330574.2(ZNF711):c.1918C>A (p.His640Asn)	ZNF711 (H640N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227715	NM_001330574.2(ZNF711):c.2347T>A (p.Phe783Ile)	ZNF711 (F783I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807759	GRCh37/hg19 Xq21.1-21.2(chrX:84343474-84990478)x0	APOOL, POF1B +2 more	Copy number loss	not provided	GLikely pathogenic
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 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 1794112	NM_001330574.2(ZNF711):c.1246+20A>G	ZNF711	Single nucleotide variant (intron variant)	Inborn genetic diseases	GBenign
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
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 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 1678069	NM_001330574.2(ZNF711):c.1055-16T>G	ZNF711	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1526822	GRCh37/hg19 Xq21.1-21.2(chrX:78104966-86189374)	APOOL, BRWD3 +16 more	Copy number loss	not specified	GPathogenic
Select item 1526815	GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505)	APOOL, ABCB7 +49 more	Copy number gain	not specified	GUncertain significance
Select item 1367671	NM_001330574.2(ZNF711):c.2042A>G (p.Lys681Arg)	ZNF711 (K635R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1341135	GRCh37/hg19 Xq21.1-21.31(chrX:78558916-86314970)x2	APOOL, BRWD3 +14 more	Copy number gain	not provided	GUncertain significance
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 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 1313801	NM_001330574.2(ZNF711):c.2287T>G (p.Ser763Ala)	ZNF711 (S717A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1309515	NM_001330574.2(ZNF711):c.2366G>A (p.Arg789Gln)	ZNF711 (R743Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309365	NM_001330574.2(ZNF711):c.2282A>G (p.Asp761Gly)	ZNF711 (D715G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309167	NM_001330574.2(ZNF711):c.622+4A>T	ZNF711	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1307412	NM_001330574.2(ZNF711):c.654G>A (p.Met218Ile)	ZNF711 (M218I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307311	NM_001330574.2(ZNF711):c.2312del (p.Ile770_Ser771insTer)	ZNF711	Deletion (nonsense)	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 1302101	NM_001330574.2(ZNF711):c.695A>G (p.Glu232Gly)	ZNF711 (E232G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1280689	NM_001330574.2(ZNF711):c.779-19G>A	ZNF711	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264007	NM_001330574.2(ZNF711):c.1103-155T>A	ZNF711	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263546	NM_001330574.2(ZNF711):c.1055-296T>C	ZNF711	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241445	NM_001330574.2(ZNF711):c.779-65T>C	ZNF711	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
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 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 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 1028239	NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn)	ZNF711 (D582N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 97 +1 more	GUncertain significance

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