Related gene-specific medical variations for Gene (Select 23152) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672261	NM_001386298.1(CIC):c.2917C>T (p.His973Tyr)	CIC (H64Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2664062	NM_001386298.1(CIC):c.1315G>A (p.Glu439Lys)	CIC (E439K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2584674	NM_001386298.1(CIC):c.5318T>G (p.Phe1773Cys)	CIC (F1773C +1 more)	Single nucleotide variant (missense 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
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 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
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 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 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 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 2429946	NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)	CIC (P1834L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 2429814	NM_001386298.1(CIC):c.7018A>C (p.Lys2340Gln)	CIC (K1430Q +3 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429813	NM_001386298.1(CIC):c.2131_2150delinsACGAT (p.Pro711_Glu717delinsThrMet)	CIC	Indel (inframe_indel)	Autism spectrum disorder	GLikely benign
Select item 2429812	NM_001386298.1(CIC):c.1975C>T (p.Arg659Cys)	CIC (R659C)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429791	NM_001386298.1(CIC):c.4981delinsCTTCCC (p.Thr1661fs)	CIC (T1661fs +1 more)	Indel (frameshift variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2429415	NM_001386298.1(CIC):c.115A>C (p.Lys39Gln)	CIC (K39Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701644	NM_001386298.1(CIC):c.5708A>G (p.Gln1903Arg)	CIC (Q1903R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1700079	NM_001386298.1(CIC):c.3313G>T (p.Glu1105Ter)	CIC (E1105* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696702	NM_001386298.1(CIC):c.1736C>G (p.Ser579Ter)	CIC (S579*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1696696	NM_001386298.1(CIC):c.1324T>G (p.Ser442Ala)	CIC (S442A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1679600	NM_001386298.1(CIC):c.7195A>G (p.Thr2399Ala)	CIC (T1487A +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1676528	NM_015125.5(CIC):c.3617del (p.Gln1206fs)	CIC (Q1206fs +2 more)	Deletion	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 1342450	NM_001386298.1(CIC):c.1785C>A (p.Asp595Glu)	CIC (D595E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1341904	NM_001386298.1(CIC):c.2494G>A (p.Gly832Ser)	CIC (G832S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1341770	NM_001386298.1(CIC):c.5030C>T (p.Pro1677Leu)	CIC (P1677L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1325547	NM_001386298.1(CIC):c.1829G>A (p.Arg610His)	CIC (R610H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1184303	NM_001386298.1(CIC):c.968G>A (p.Arg323His)	CIC (R323H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1184286	NM_001386298.1(CIC):c.425G>A (p.Arg142Gln)	CIC (R142Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 996872	NM_001386298.1(CIC):c.4277C>G (p.Pro1426Arg)	CIC (P1426R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 996859	NM_001386298.1(CIC):c.844C>T (p.Arg282Trp)	CIC (R282W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 987487	NM_001386298.1(CIC):c.3328del (p.Arg1110fs)	CIC (R1110fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 987344	NM_001386298.1(CIC):c.4280dup (p.Asp1428fs)	CIC (D1428fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 986229	NM_001386298.1(CIC):c.4892C>T (p.Pro1631Leu)	CIC, LOC130064572 (P1631L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985654	NM_001386298.1(CIC):c.4936G>A (p.Ala1646Thr)	CIC, LOC130064572 (A1646T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983325	NM_001386298.1(CIC):c.4652G>T (p.Gly1551Val)	CIC (G1551V +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 977346	NM_001386298.1(CIC):c.1691C>T (p.Thr564Met)	CIC (T564M)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 975212	NM_001386298.1(CIC):c.3122C>G (p.Ser1041Cys)	CIC (S1041C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975210	NM_001386298.1(CIC):c.4831A>G (p.Asn1611Asp)	CIC (N1611D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975209	NM_001386298.1(CIC):c.7054+4C>A	CIC	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 931250	NM_001386298.1(CIC):c.3295C>T (p.Arg1099Cys)	CIC (R1099C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 931184	NM_001386298.1(CIC):c.3180-10C>G	CIC	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 45	GLikely benign
Select item 931086	NM_001386298.1(CIC):c.5528G>T (p.Arg1843Leu)	CIC (R1843L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 931015	NM_001386298.1(CIC):c.5141del (p.Pro1714fs)	CIC (P805fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 930872	NM_001386298.1(CIC):c.7430C>T (p.Thr2477Met)	CIC (T1568M +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 930274	NM_001386298.1(CIC):c.7363G>T (p.Ala2455Ser)	CIC (A1543S +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 930273	NM_001386298.1(CIC):c.6401G>A (p.Gly2134Glu)	CIC (G1225E +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 872125	NM_001386298.1(CIC):c.4055T>A (p.Ile1352Asn)	CIC (I1352N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872123	NM_001386298.1(CIC):c.3613C>T (p.Arg1205Trp)	CIC (R1205W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 754943	NM_001386298.1(CIC):c.4929G>A (p.Ser1643=)	CIC, LOC130064572	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 623956	NM_001386298.1(CIC):c.3926C>T (p.Pro1309Leu)	CIC (P1309L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133923	NM_001386298.1(CIC):c.4157G>C (p.Gly1386Ala)	CIC (G477A +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133921	NM_001386298.1(CIC):c.3611C>T (p.Thr1204Met)	CIC (T295M +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133920	NM_001386298.1(CIC):c.3278C>T (p.Ser1093Phe)	CIC (S184F +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133918	NM_001386298.1(CIC):c.7214G>A (p.Arg2405His)	CIC (R1496H +4 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133917	NM_001386298.1(CIC):c.7343C>T (p.Pro2448Leu)	CIC (P1539L +4 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133916	NM_001386298.1(CIC):c.6683C>T (p.Pro2228Leu)	CIC (P1319L +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133915	NM_001386298.1(CIC):c.6556C>T (p.Arg2186Cys)	CIC (R1277C +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133914	NM_001386298.1(CIC):c.6652A>G (p.Ser2218Gly)	CIC (S1309G +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133913	NM_001386298.1(CIC):c.6385G>C (p.Glu2129Gln)	CIC (E1220Q +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133912	NM_001386298.1(CIC):c.6329G>A (p.Gly2110Asp)	CIC (G1201D +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133911	NM_001386298.1(CIC):c.6280G>A (p.Ala2094Thr)	CIC (A1185T +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133909	NM_001386298.1(CIC):c.6212A>C (p.Tyr2071Ser)	CIC (Y1162S +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133905	NM_001386298.1(CIC):c.5645C>A (p.Thr1882Lys)	CIC (T973K +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133904	NM_001386298.1(CIC):c.5116G>A (p.Gly1706Ser)	CIC (G797S +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133902	NM_001386298.1(CIC):c.4300G>A (p.Gly1434Ser)	CIC (G525S +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133901	NM_001386298.1(CIC):c.5414C>T (p.Pro1805Leu)	CIC (P896L +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133899	NM_001386298.1(CIC):c.5045C>T (p.Pro1682Leu)	CIC (P773L +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
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 133893	NM_001386298.1(CIC):c.4421_4422delinsAA (p.Gly1474Glu)	CIC (G1474E +1 more)	Indel (missense variant)	not specified	Gnot provided

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Items: 76