C3809686[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 521287	NM_006565.4(CTCF):c.615_618del (p.Lys206fs)	CTCF (K206fs)	Deletion (frameshift variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +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 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 522045	NM_006565.4(CTCF):c.782-2A>G	CTCF	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases +1 more	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 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 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	GUncertain significance
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 1007892	NM_006565.4(CTCF):c.881A>C (p.His294Pro)	CTCF (H294P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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	GConflicting classifications of pathogenicity
Select item 429261	NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)	CTCF (R342C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1220439	NM_006565.4(CTCF):c.1025G>A (p.Arg342His)	CTCF (R14H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 1325778	NM_006565.4(CTCF):c.1103G>A (p.Arg368His)	CTCF (R368H +1 more)	Single nucleotide variant (missense variant)	CTCF-Related Neurodevelopmental Disorder +2 more	GPathogenic
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 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 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	GConflicting classifications of pathogenicity
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 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 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 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 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 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 88638	NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)	CTCF (R567W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +3 more	GPathogenic
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 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	GUncertain significance

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Items: 34