Related gene-specific medical variations for Gene (Select 10664) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361676	NM_006565.4(CTCF):c.1507G>A (p.Ala503Thr)	CTCF (A175T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360444	NM_006565.4(CTCF):c.1961G>A (p.Arg654Gln)	CTCF (R326Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359856	NM_006565.4(CTCF):c.1501G>A (p.Asp501Asn)	CTCF (D173N +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 1808435	GRCh37/hg19 16q22.1(chr16:67612107-67642961)x1	CTCF	Copy number loss	not provided	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 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 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 998070	NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs)	CTCF (D219fs +1 more)	Indel (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 998068	NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs)	CTCF (Y174fs +1 more)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
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 870812	NM_006565.4(CTCF):c.1219T>C (p.Tyr407His)	CTCF (Y407H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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