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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2646625	NM_006565.4(CTCF):c.-127+3129G>T	CTCF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235877	NM_006565.4(CTCF):c.-9-278G>A	CTCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224890	NM_006565.4(CTCF):c.-9-160_-9-158del	CTCF	Microsatellite (intron variant)	not provided	GBenign
Select item 1242208	NM_006565.4(CTCF):c.-9-11C>T	CTCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1333949	NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del)	CTCF (M1del)	Indel (inframe_deletion +2 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 745878	NM_006565.4(CTCF):c.18C>T (p.Val6=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 521865	NM_006565.4(CTCF):c.75C>A (p.Tyr25Ter)	CTCF (Y25*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 589295	NM_006565.4(CTCF):c.84C>T (p.Arg28=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
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 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 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 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 434862	NM_006565.4(CTCF):c.121C>G (p.Pro41Ala)	CTCF (P41A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
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 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 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 975529	NM_006565.4(CTCF):c.136G>A (p.Asp46Asn)	CTCF (D46N)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 1298665	NM_006565.4(CTCF):c.140G>A (p.Gly47Glu)	CTCF (G47E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1325769	NM_006565.4(CTCF):c.148dup (p.Val50fs)	CTCF (V50fs)	Duplication (frameshift variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
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 1335216	NM_006565.4(CTCF):c.150G>A (p.Val50=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 3363570	NM_006565.4(CTCF):c.164A>G (p.Asn55Ser)	CTCF (N55S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1325616	NM_006565.4(CTCF):c.203C>G (p.Pro68Arg)	CTCF (P68R)	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 3368717	NM_006565.4(CTCF):c.247G>T (p.Ala83Ser)	CTCF (A83S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 981360	NM_006565.4(CTCF):c.280C>T (p.Gln94Ter)	CTCF (Q94*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability	GLikely pathogenic
Select item 1325788	NM_006565.4(CTCF):c.292_293del (p.Leu98fs)	CTCF (L98fs)	Deletion (frameshift variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
Select item 713630	NM_006565.4(CTCF):c.303A>G (p.Val101=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1334567	NM_006565.4(CTCF):c.307A>G (p.Met103Val)	CTCF (M103V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 504066	NM_006565.4(CTCF):c.313_314dup (p.Gln106fs)	CTCF (Q106fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1031055	NM_006565.4(CTCF):c.313G>A (p.Glu105Lys)	CTCF (E105K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 998024	NM_006565.4(CTCF):c.329dup (p.Gly111fs)	CTCF (G111fs)	Duplication (intron variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
Select item 1305115	NM_006565.4(CTCF):c.337C>A (p.Leu113Ile)	CTCF (L113I)	Single nucleotide variant (missense variant +1 more)	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 741636	NM_006565.4(CTCF):c.366G>A (p.Val122=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 88636	NM_006565.4(CTCF):c.375dup (p.Val126fs)	CTCF (V126fs)	Duplication (intron variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
Select item 726448	NM_006565.4(CTCF):c.375T>C (p.Pro125=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2646627	NM_006565.4(CTCF):c.390A>G (p.Ser130=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 1310475	NM_006565.4(CTCF):c.516T>G (p.Asn172Lys)	CTCF (N172K)	Single nucleotide variant (missense variant +1 more)	not provided	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 1341706	NM_006565.4(CTCF):c.529A>G (p.Thr177Ala)	CTCF (T177A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
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 1031652	NM_006565.4(CTCF):c.538_540dup (p.Gln180dup)	CTCF	Duplication (inframe_insertion +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 1012402	NM_006565.4(CTCF):c.535G>A (p.Glu179Lys)	CTCF (E179K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363311	NM_006565.4(CTCF):c.554C>A (p.Pro185His)	CTCF (P185H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1012403	NM_006565.4(CTCF):c.576A>G (p.Gln192=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3363648	NM_006565.4(CTCF):c.586G>A (p.Asp196Asn)	CTCF (D196N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 280869	NM_006565.4(CTCF):c.610dup (p.Thr204fs)	CTCF (T204fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 3364983	NM_006565.4(CTCF):c.610A>T (p.Thr204Ser)	CTCF (T204S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 521287	NM_006565.4(CTCF):c.615_618del (p.Lys206fs)	CTCF (K206fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
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 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 1031653	NM_006565.4(CTCF):c.638G>A (p.Arg213His)	CTCF (R213H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 3270024	NM_006565.4(CTCF):c.643A>G (p.Thr215Ala)	CTCF (T215A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 1254810	NM_006565.4(CTCF):c.677A>G (p.Tyr226Cys)	CTCF (Y226C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1325770	NM_006565.4(CTCF):c.688del (p.Glu230fs)	CTCF (E230fs)	Deletion (frameshift variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
Select item 740754	NM_006565.4(CTCF):c.708G>A (p.Leu236=)	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 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 755205	NM_006565.4(CTCF):c.732A>G (p.Lys244=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 625526	NM_006565.4(CTCF):c.773_776del (p.Lys258fs)	CTCF (K258fs)	Deletion (frameshift variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
Select item 984936	NM_006565.4(CTCF):c.778_781del (p.Lys260fs)	CTCF (K260fs)	Microsatellite (frameshift variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
Select item 1334466	NM_006565.4(CTCF):c.781+2T>G	CTCF	Single nucleotide variant (splice donor variant +1 more)	not provided	Gnot provided
Select item 522045	NM_006565.4(CTCF):c.782-2A>G	CTCF	Single nucleotide variant (splice acceptor variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +2 more	GPathogenic/Likely pathogenic
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 1325774	NM_006565.4(CTCF):c.782-1G>T	CTCF	Single nucleotide variant (splice acceptor variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 1065488	NM_006565.4(CTCF):c.782-1G>C	CTCF	Single nucleotide variant (splice acceptor variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
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 1031654	NM_006565.4(CTCF):c.798C>G (p.Phe266Leu)	CTCF (F266L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 1325772	NM_006565.4(CTCF):c.804_805del (p.Cys268_Glu269delinsTer)	CTCF	Microsatellite (nonsense +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
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 3270025	NM_006565.4(CTCF):c.830G>A (p.Arg277Gln)	CTCF (R277Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1325785	NM_006565.4(CTCF):c.833G>T (p.Arg278Leu)	CTCF (R278L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more	GUncertain significance
Select item 3365893	NM_006565.4(CTCF):c.847C>T (p.Arg283Cys)	CTCF (R283C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 562205	NM_006565.4(CTCF):c.848G>A (p.Arg283His)	CTCF (R283H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
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 1007892	NM_006565.4(CTCF):c.881A>C (p.His294Pro)	CTCF (H294P)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more	GConflicting classifications of pathogenicity
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 1327249	NM_006565.4(CTCF):c.895T>C (p.Cys299Arg)	CTCF (C299R)	Single nucleotide variant (missense variant +1 more)	not provided	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 2646630	NM_006565.4(CTCF):c.927G>A (p.Leu309=)	CTCF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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