ClinVar for Gene (Select 10664) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3078564	NM_006565.4(CTCF):c.1998G>C (p.Gln666His)	CTCF (Q666H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078563	NM_006565.4(CTCF):c.128A>G (p.Asn43Ser)	CTCF (N43S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078562	NM_006565.4(CTCF):c.1277_1291del (p.Ile426_His430del)	CTCF	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic
Select item 3078561	NM_006565.4(CTCF):c.120A>T (p.Leu40Phe)	CTCF (L40F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3069058	NM_006565.4(CTCF):c.1127A>G (p.Glu376Gly)	CTCF (E376G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066181	NM_006565.4(CTCF):c.958C>T (p.Arg320Cys)	CTCF (R320C)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 3061998	NM_006565.4(CTCF):c.1697G>A (p.Arg566His)	CTCF (R238H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 3058090	NM_006565.4(CTCF):c.1358-8G>A	CTCF	Single nucleotide variant (intron variant)	CTCF-related disorder	GLikely benign
Select item 3052523	NM_006565.4(CTCF):c.1674T>G (p.Ser558=)	CTCF	Single nucleotide variant (synonymous variant)	CTCF-related disorder	GLikely benign
Select item 3046838	NM_006565.4(CTCF):c.1650C>T (p.Phe550=)	CTCF	Single nucleotide variant (synonymous variant)	CTCF-related disorder	GLikely benign
Select item 3036339	NM_006565.4(CTCF):c.1401G>A (p.Lys467=)	CTCF	Single nucleotide variant (synonymous variant)	CTCF-related disorder	GLikely benign
Select item 3035902	NM_006565.4(CTCF):c.984C>T (p.Asp328=)	CTCF	Single nucleotide variant (5 prime UTR variant +1 more)	CTCF-related disorder	GLikely benign
Select item 2824745	NM_006565.4(CTCF):c.1747G>T (p.Val583Leu)	CTCF (V583L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2692381	NM_006565.4(CTCF):c.1066T>G (p.Cys356Gly)	CTCF (C28G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 2691856	NM_006565.4(CTCF):c.442dup (p.Ala148fs)	CTCF (A148fs)	Duplication (frameshift variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2672644	NM_006565.4(CTCF):c.1757A>C (p.Glu586Ala)	CTCF (E258A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672643	NM_006565.4(CTCF):c.1423G>A (p.Val475Met)	CTCF (V147M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646630	NM_006565.4(CTCF):c.927G>A (p.Leu309=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646629	NM_006565.4(CTCF):c.888C>T (p.Cys296=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646628	NM_006565.4(CTCF):c.714A>G (p.Ser238=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646627	NM_006565.4(CTCF):c.390A>G (p.Ser130=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2646626	NM_006565.4(CTCF):c.153C>T (p.Val51=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646625	NM_006565.4(CTCF):c.-127+3129G>T	CTCF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637200	NM_006565.4(CTCF):c.1098A>C (p.Leu366Phe)	CTCF (L366F +1 more)	Single nucleotide variant (missense variant)	CTCF-related disorder	GLikely pathogenic
Select item 2634460	NM_006565.4(CTCF):c.1969G>C (p.Gly657Arg)	CTCF (G329R +1 more)	Single nucleotide variant (missense variant)	CTCF-related disorder	GUncertain significance
Select item 2633611	NM_006565.4(CTCF):c.1414T>C (p.Cys472Arg)	CTCF (C144R +1 more)	Single nucleotide variant (missense variant)	CTCF-related disorder	GUncertain significance
Select item 2632030	NM_006565.4(CTCF):c.29T>C (p.Val10Ala)	CTCF (V10A)	Single nucleotide variant (missense variant +1 more)	CTCF-related disorder	GUncertain significance
Select item 2627747	NM_006565.4(CTCF):c.784G>A (p.Val262Ile)	CTCF (V262I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 2627327	NM_006565.4(CTCF):c.523G>A (p.Val175Met)	CTCF (V175M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580541	NM_006565.4(CTCF):c.1318C>T (p.Pro440Ser)	CTCF (P112S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575596	NM_006565.4(CTCF):c.1465C>A (p.His489Asn)	CTCF (H161N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574855	NM_006565.4(CTCF):c.170G>A (p.Ser57Asn)	CTCF (S57N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573041	NM_006565.4(CTCF):c.1376A>C (p.Gln459Pro)	CTCF (Q131P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 2572365	NM_006565.4(CTCF):c.1022G>A (p.Arg341His)	CTCF (R13H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572267	NM_006565.4(CTCF):c.721_722del (p.Asn241fs)	CTCF (N241fs)	Deletion (frameshift variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 2550800	NM_006565.4(CTCF):c.443C>G (p.Ala148Gly)	CTCF (A148G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505968	NM_006565.4(CTCF):c.901A>G (p.Arg301Gly)	CTCF (R301G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505870	NM_006565.4(CTCF):c.1033C>T (p.His345Tyr)	CTCF (H17Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2505065	NM_006565.4(CTCF):c.532_538del (p.Leu178fs)	CTCF (L178fs)	Deletion (frameshift variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	Gnot provided
Select item 2493908	NM_006565.4(CTCF):c.247G>C (p.Ala83Pro)	CTCF (A83P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446134	NM_006565.4(CTCF):c.1003G>A (p.Gly335Arg)	CTCF (G335R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2446041	NM_006565.4(CTCF):c.1485dup (p.Lys496Ter)	CTCF (K168* +1 more)	Duplication (nonsense)	See cases	GPathogenic
Select item 2444699	NM_006565.4(CTCF):c.439C>T (p.Leu147Phe)	CTCF (L147F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2443598	NM_006565.4(CTCF):c.959G>A (p.Arg320His)	CTCF (R320H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2443371	NM_006565.4(CTCF):c.160G>T (p.Val54Phe)	CTCF (V54F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2442004	NM_006565.4(CTCF):c.575A>C (p.Gln192Pro)	CTCF (Q192P)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 2440603	NM_006565.4(CTCF):c.216G>T (p.Gln72His)	CTCF (Q72H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 2440602	NM_006565.4(CTCF):c.583C>G (p.Pro195Ala)	CTCF (P195A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 2440601	NM_006565.4(CTCF):c.118T>G (p.Leu40Val)	CTCF (L40V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 2439620	NM_006565.4(CTCF):c.782-1G>A	CTCF	Single nucleotide variant (splice acceptor variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 2430367	NM_006565.4(CTCF):c.437G>A (p.Gly146Asp)	CTCF (G146D)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2430287	NM_006565.4(CTCF):c.1450del (p.Gln484fs)	CTCF (Q156fs +1 more)	Deletion (frameshift variant)	CTCF-related disorder	Gnot provided
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2399871	NM_006565.4(CTCF):c.629G>A (p.Ser210Asn)	CTCF (S210N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308019	NM_006565.4(CTCF):c.2025C>A (p.Asp675Glu)	CTCF (D347E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288542	NM_006565.4(CTCF):c.677A>C (p.Tyr226Ser)	CTCF (Y226S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267646	NM_006565.4(CTCF):c.388T>C (p.Ser130Pro)	CTCF (S130P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249297	NM_006565.4(CTCF):c.1936C>T (p.Pro646Ser)	CTCF (P318S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227309	NM_006565.4(CTCF):c.1288C>G (p.His430Asp)	CTCF (H430D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2104020	NM_006565.4(CTCF):c.1369C>T (p.Arg457Ter)	CTCF (R129* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1810520	NM_006565.4(CTCF):c.1816A>G (p.Lys606Glu)	CTCF (K278E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810482	NM_006565.4(CTCF):c.351A>C (p.Gln117His)	CTCF (Q117H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1808435	GRCh37/hg19 16q22.1(chr16:67612107-67642961)x1	CTCF	Copy number loss	not provided	GUncertain significance
Select item 1806713	NM_006565.4(CTCF):c.659A>G (p.Asp220Gly)	CTCF (D220G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1805768	NM_006565.4(CTCF):c.2089G>T (p.Ala697Ser)	CTCF (A369S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 1805062	NM_006565.4(CTCF):c.1111C>T (p.Arg371Cys)	CTCF (R371C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 1803701	NM_006565.4(CTCF):c.1622A>T (p.His541Leu)	CTCF (H213L +1 more)	Single nucleotide variant (missense variant)	CTCF-related syndromic intellectual disability	GUncertain significance
Select item 1799487	NM_006565.4(CTCF):c.306T>C (p.Asn102=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1786455	NM_006565.4(CTCF):c.2134C>T (p.Pro712Ser)	CTCF (P712S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1784820	NM_006565.4(CTCF):c.2036G>A (p.Gly679Asp)	CTCF (G351D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1780583	NM_006565.4(CTCF):c.1810T>C (p.Ser604Pro)	CTCF (S276P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1780521	NM_006565.4(CTCF):c.1809C>A (p.Arg603=)	CTCF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1780155	NM_006565.4(CTCF):c.1789G>A (p.Gly597Arg)	CTCF (G269R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1778423	NM_006565.4(CTCF):c.1704T>C (p.Asn568=)	CTCF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1777445	NM_006565.4(CTCF):c.165C>T (p.Asn55=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1774632	NM_006565.4(CTCF):c.1531A>G (p.Ile511Val)	CTCF (I183V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1772584	NM_006565.4(CTCF):c.1434G>A (p.Glu478=)	CTCF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769614	NM_006565.4(CTCF):c.130C>A (p.Gln44Lys)	CTCF (Q44K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1754410	NM_006565.4(CTCF):c.65G>A (p.Arg22Lys)	CTCF (R22K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1753160	NM_006565.4(CTCF):c.637C>T (p.Arg213Cys)	CTCF (R213C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1752708	NM_006565.4(CTCF):c.121C>T (p.Pro41Ser)	CTCF (P41S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1738942	NM_006565.4(CTCF):c.1169A>T (p.Asp390Val)	CTCF (D390V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1722419	NM_006565.4(CTCF):c.1369C>G (p.Arg457Gly)	CTCF (R129G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712186	NM_006565.4(CTCF):c.1639G>A (p.Asp547Asn)	CTCF (D219N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711411	NM_006565.4(CTCF):c.1042G>A (p.Glu348Lys)	CTCF (E20K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711410	NM_006565.4(CTCF):c.148G>A (p.Val50Met)	CTCF (V50M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1710562	NM_006565.4(CTCF):c.1472A>C (p.Asn491Thr)	CTCF (N163T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706340	NM_006565.4(CTCF):c.104A>G (p.Glu35Gly)	CTCF (E35G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1705522	NM_006565.4(CTCF):c.867_868dup (p.Asp290fs)	CTCF (D290fs)	Duplication (frameshift variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 1701293	NM_006565.4(CTCF):c.557A>G (p.Gln186Arg)	CTCF (Q186R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701292	NM_006565.4(CTCF):c.131A>G (p.Gln44Arg)	CTCF (Q44R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1698286	NM_006565.4(CTCF):c.1064T>C (p.Met355Thr)	CTCF (M27T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691590	NM_006565.4(CTCF):c.813C>G (p.Cys271Trp)	CTCF (C271W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1686607	NM_006565.4(CTCF):c.37T>G (p.Ser13Ala)	CTCF (S13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1684067	NM_006565.4(CTCF):c.1838-120TA[16]	CTCF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1679099	NM_006565.4(CTCF):c.1673_1675delinsTT (p.Ser558fs)	CTCF (S230fs +1 more)	Indel (frameshift variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	Gnot provided
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1518759	NM_006565.4(CTCF):c.1214A>G (p.Lys405Arg)	CTCF (K405R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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