C4539848[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030468	NM_001386298.1(CIC):c.3031T>C (p.Cys1011Arg)	CIC (C1011R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1030471	NM_001386298.1(CIC):c.3400C>T (p.Gln1134Ter)	CIC (Q225* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GPathogenic
Select item 1030467	NM_001386298.1(CIC):c.3974C>T (p.Pro1325Leu)	CIC (P1325L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1033732	NM_001386298.1(CIC):c.4419G>T (p.Gln1473His)	CIC (Q1473H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45 +1 more	GUncertain significance
Select item 1033733	NM_001386298.1(CIC):c.4946C>T (p.Pro1649Leu)	CIC (P1649L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1033734	NM_001386298.1(CIC):c.5302A>G (p.Thr1768Ala)	CIC (T1768A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1033735	NM_001386298.1(CIC):c.5455C>T (p.Pro1819Ser)	CIC (P910S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1030469	NM_001386298.1(CIC):c.6188G>C (p.Ser2063Thr)	CIC (S2063T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1013169	NM_001386298.1(CIC):c.6190G>A (p.Ala2064Thr)	CIC (A1155T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45 +1 more	GUncertain significance
Select item 1030470	NM_001386298.1(CIC):c.6747G>A (p.Lys2249=)	CIC	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1033736	NM_001386298.1(CIC):c.7407C>G (p.Thr2469=)	CIC	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2441832	NM_001386298.1(CIC):c.7416C>G (p.Ser2472Arg)	CIC (S1560R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance