C4539848[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440084	NM_001386298.1(CIC):c.2878C>T (p.Pro960Ser)	CIC (P51S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2440083	NM_001386298.1(CIC):c.3025G>A (p.Ala1009Thr)	CIC (A1009T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2440080	NM_001386298.1(CIC):c.3812G>C (p.Ser1271Thr)	CIC (S1271T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2440081	NM_001386298.1(CIC):c.3992G>A (p.Arg1331Gln)	CIC (R1331Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2440079	NM_001386298.1(CIC):c.4674CGCCCC[3] (p.Pro1562_Ser1563insAlaPro)	CIC	Microsatellite (inframe_indel +1 more)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2440078	NM_001386298.1(CIC):c.4673C>T (p.Ser1558Phe)	CIC (S1558F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2440077	NM_001386298.1(CIC):c.4724G>A (p.Arg1575His)	CIC (R1575H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2440076	NM_001386298.1(CIC):c.4726C>A (p.Pro1576Thr)	CIC (P1576T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 133898	NM_001386298.1(CIC):c.4928C>T (p.Ser1643Leu)	CIC, LOC130064572 (S734L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2440085	NM_001386298.1(CIC):c.5299C>T (p.Pro1767Ser)	CIC (P1767S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1690745	NM_001386298.1(CIC):c.6611C>T (p.Pro2204Leu)	CIC (P1295L +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45 +1 more	GLikely benign
Select item 2440075	NM_001386298.1(CIC):c.7095C>G (p.Asp2365Glu)	CIC (D1453E +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2440082	NM_001386298.1(CIC):c.7469C>T (p.Ser2490Leu)	CIC (S1578L +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance