ClinVar for MedGen (Select 816016) - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340500	NM_006565.4(CTCF):c.1342C>T (p.Arg448Ter)	CTCF (R120* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 1343232	NM_006565.4(CTCF):c.1223_1226del (p.Glu408fs)	CTCF (E408fs +1 more)	Deletion (frameshift variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
Select item 1341968	NM_001134407.3(GRIN2A):c.728C>T (p.Ala243Val)	GRIN2A (A243V)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
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 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 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 1325787	NM_006565.4(CTCF):c.1585G>A (p.Asp529Asn)	CTCF (D201N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
Select item 1325786	NM_006565.4(CTCF):c.1078A>C (p.Ser360Arg)	CTCF (S32R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	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 1325783	NM_006565.4(CTCF):c.1226G>A (p.Cys409Tyr)	CTCF (C409Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 1325782	NM_006565.4(CTCF):c.1168G>A (p.Asp390Asn)	CTCF (D390N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 1325781	NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu)	CTCF (P378L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more	GPathogenic
Select item 1325780	NM_006565.4(CTCF):c.1118A>C (p.His373Pro)	CTCF (H373P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 1325779	NM_006565.4(CTCF):c.1117C>G (p.His373Asp)	CTCF (H373D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
Select item 1325778	NM_006565.4(CTCF):c.1103G>A (p.Arg368His)	CTCF (R368H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +2 more	GPathogenic
Select item 1325777	NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys)	CTCF (R368C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more	GPathogenic
Select item 1325776	NM_006565.4(CTCF):c.1006G>C (p.Glu336Gln)	CTCF (E336Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 1325775	NM_006565.4(CTCF):c.979T>A (p.Cys327Ser)	CTCF (C327S)	Single nucleotide variant (5 prime UTR 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 1325773	NM_006565.4(CTCF):c.1960C>T (p.Arg654Ter)	CTCF (R326* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
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 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 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 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 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 1220439	NM_006565.4(CTCF):c.1025G>A (p.Arg342His)	CTCF (R14H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1203833	NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln)	CTCF (R120Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more	GPathogenic
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 1065421	NM_006565.4(CTCF):c.1119T>A (p.His373Gln)	CTCF (H373Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
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 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 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 1031651	NM_006565.4(CTCF):c.1745G>T (p.Gly582Val)	CTCF (G254V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
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 1031054	NM_006565.4(CTCF):c.1826C>A (p.Ser609Tyr)	CTCF (S281Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GUncertain significance
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 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 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 983075	NM_006565.4(CTCF):c.2139C>A (p.Asn713Lys)	CTCF (N385K +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GConflicting classifications of pathogenicity
Select item 976764	NM_006565.4(CTCF):c.958C>G (p.Arg320Gly)	CTCF (R320G)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 812003	NM_006565.4(CTCF):c.1365C>G (p.His455Gln)	CTCF (H127Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GLikely pathogenic
Select item 807586	NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile)	CTCF (S32I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more	GConflicting classifications of pathogenicity
Select item 806545	NM_004523.4(KIF11):c.1145T>C (p.Ile382Thr)	KIF11 (I382T)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more	GConflicting classifications of pathogenicity
Select item 803262	NM_006565.4(CTCF):c.1990C>T (p.Gln664Ter)	CTCF (Q664* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
Select item 792812	NM_006565.4(CTCF):c.1962A>C (p.Arg654=)	CTCF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 791558	NM_006565.4(CTCF):c.1702-10T>C	CTCF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 594989	NM_006565.4(CTCF):c.1130G>A (p.Arg377His)	CTCF (R377H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more	GPathogenic
Select item 594856	NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)	CTCF (R339Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more	GPathogenic/Likely 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 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 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 429261	NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)	CTCF (R342C +1 more)	Single nucleotide variant (missense variant)	CTCF-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 210800	NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser)	CTCF (P643S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 88638	NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)	CTCF (R567W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 88637	NM_006565.4(CTCF):c.1186dup (p.Arg396fs)	CTCF (R68fs +1 more)	Duplication (frameshift variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
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

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Items: 74