ClinVar for Gene (Select 23152) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068400	NM_001386298.1(CIC):c.2363del (p.Pro788fs)	CIC (P788fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 3067529	NM_001386298.1(CIC):c.5817C>G (p.Thr1939=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3067462	NM_001386298.1(CIC):c.4813C>T (p.Arg1605Trp)	CIC (R1605W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3067340	NM_001386298.1(CIC):c.1620T>G (p.Pro540=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067335	NM_001386298.1(CIC):c.2052A>C (p.Pro684=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067322	NM_001386298.1(CIC):c.4522C>T (p.Arg1508Trp)	CIC (R1508W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3066365	NM_001386298.1(CIC):c.94C>T (p.Arg32Ter)	CIC (R32*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3066278	NM_001386298.1(CIC):c.4869del (p.Ser1624fs)	CIC (S1624fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 3066265	NM_001386298.1(CIC):c.1495G>A (p.Gly499Ser)	CIC (G499S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3066220	NM_001386298.1(CIC):c.2935C>T (p.Gln979Ter)	CIC (Q70* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3063995	NM_001386298.1(CIC):c.1800C>T (p.Ala600=)	CIC	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3063953	NC_000019.9:g.(?_42785739)_(42791254_?)del	CIC	Deletion	Intellectual disability, autosomal dominant 45	GPathogenic
Select item 3063655	NM_001386298.1(CIC):c.355AAG[2] (p.Lys121del)	CIC (K121del)	Microsatellite (inframe_deletion +2 more)	not specified	GUncertain significance
Select item 3061146	NM_001386298.1(CIC):c.4066dup (p.Glu1356fs)	CIC (E1356fs +1 more)	Duplication (frameshift variant)	CIC-related condition	GLikely pathogenic
Select item 3061058	NM_001386298.1(CIC):c.4708G>A (p.Ala1570Thr)	CIC (A1570T +1 more)	Single nucleotide variant (missense variant)	CIC-related condition	GUncertain significance
Select item 3060257	NM_001386298.1(CIC):c.3658+6_3658+9del	CIC	Deletion (intron variant)	CIC-related condition	GUncertain significance
Select item 3059267	NM_001386298.1(CIC):c.6849C>G (p.Pro2283=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3058682	NM_001386298.1(CIC):c.5607C>G (p.Pro1869=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3058142	NM_001386298.1(CIC):c.3962C>T (p.Ala1321Val)	CIC (A1321V +1 more)	Single nucleotide variant (missense variant)	CIC-related condition	GLikely benign
Select item 3055109	NM_001386298.1(CIC):c.163G>A (p.Gly55Arg)	CIC (G55R)	Single nucleotide variant (missense variant)	CIC-related condition	GUncertain significance
Select item 3053738	NM_001386298.1(CIC):c.2406G>A (p.Val802=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3052956	NM_001386298.1(CIC):c.6684G>A (p.Pro2228=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3052853	NM_001386298.1(CIC):c.5970G>A (p.Pro1990=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3051354	NM_001386298.1(CIC):c.1419A>G (p.Pro473=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3050613	NM_001386298.1(CIC):c.4001G>A (p.Arg1334His)	CIC (R1334H +1 more)	Single nucleotide variant (missense variant)	CIC-related condition	GLikely benign
Select item 3050160	NM_001386298.1(CIC):c.471C>A (p.Pro157=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3049911	NM_001386298.1(CIC):c.1428C>T (p.Ala476=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3049687	NM_001386298.1(CIC):c.2612T>C (p.Val871Ala)	CIC (V871A)	Single nucleotide variant (missense variant)	CIC-related condition	GUncertain significance
Select item 3049080	NM_001386298.1(CIC):c.4281G>A (p.Pro1427=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3048645	NM_001386298.1(CIC):c.5613+7G>T	CIC	Single nucleotide variant (intron variant)	CIC-related condition	GLikely benign
Select item 3047883	NM_001386298.1(CIC):c.6852C>T (p.Thr2284=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3047652	NM_001386298.1(CIC):c.5988C>T (p.Pro1996=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3047632	NM_001386298.1(CIC):c.3216T>C (p.Pro1072=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3047475	NM_001386298.1(CIC):c.4697A>G (p.Tyr1566Cys)	CIC (Y1566C +1 more)	Single nucleotide variant (missense variant)	CIC-related condition	GLikely benign
Select item 3047299	NM_001386298.1(CIC):c.5043C>T (p.Ala1681=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3047142	NM_001386298.1(CIC):c.6523-6C>T	CIC	Single nucleotide variant (intron variant)	CIC-related condition	GLikely benign
Select item 3046677	NM_001386298.1(CIC):c.1740G>A (p.Arg580=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3044261	NM_001386298.1(CIC):c.1296G>A (p.Val432=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3041030	NM_001386298.1(CIC):c.7515C>G (p.Pro2505=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3040126	NM_001386298.1(CIC):c.6792C>T (p.Phe2264=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3038513	NM_001386298.1(CIC):c.4493G>A (p.Arg1498Gln)	CIC (R1498Q +1 more)	Single nucleotide variant (missense variant)	CIC-related condition	GLikely benign
Select item 3038207	NM_001386298.1(CIC):c.162C>T (p.Ser54=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3036152	NM_001386298.1(CIC):c.5259A>G (p.Pro1753=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3036105	NM_001386298.1(CIC):c.4335G>A (p.Ala1445=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3035900	NM_001386298.1(CIC):c.1431C>A (p.Ala477=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3034019	NM_001386298.1(CIC):c.5652C>T (p.Ser1884=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3033316	NM_001386298.1(CIC):c.1628C>T (p.Ala543Val)	CIC (A543V)	Single nucleotide variant (missense variant)	CIC-related condition	GLikely benign
Select item 3032339	NM_001386298.1(CIC):c.7324G>T (p.Ala2442Ser)	CIC (A1530S +4 more)	Single nucleotide variant (missense variant)	CIC-related condition	GUncertain significance
Select item 3032285	NM_001386298.1(CIC):c.5426-9_5426-5del	CIC	Deletion (intron variant)	CIC-related condition	GLikely benign
Select item 3032034	NM_001386298.1(CIC):c.5304C>T (p.Thr1768=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3030680	NM_001386298.1(CIC):c.5544C>T (p.Gly1848=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition	GLikely benign
Select item 3030398	NM_001386298.1(CIC):c.5798G>A (p.Ser1933Asn)	CIC (S1024N +1 more)	Single nucleotide variant (missense variant)	CIC-related condition	GUncertain significance
Select item 3029981	NM_001386298.1(CIC):c.2773A>G (p.Ile925Val)	CIC (I925V)	Single nucleotide variant (missense variant)	CIC-related condition	GUncertain significance
Select item 3027449	NM_001386298.1(CIC):c.1631del (p.Gly544fs)	CIC (G544fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 3026910	NM_001386298.1(CIC):c.7340C>A (p.Pro2447Gln)	CIC (P1535Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026278	NM_001386298.1(CIC):c.4681G>A (p.Ala1561Thr)	CIC (A1561T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026241	NM_001386298.1(CIC):c.543G>T (p.Glu181Asp)	CIC (E181D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025988	NM_001386298.1(CIC):c.3801C>T (p.Ser1267=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025900	NM_001386298.1(CIC):c.3612G>A (p.Thr1204=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025627	NM_001386298.1(CIC):c.4233C>T (p.Ser1411=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025548	NM_001386298.1(CIC):c.2209C>T (p.Pro737Ser)	CIC (P737S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025351	NM_001386298.1(CIC):c.198G>T (p.Glu66Asp)	CIC (E66D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025194	NM_001386298.1(CIC):c.4785C>T (p.Ile1595=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025115	NM_001386298.1(CIC):c.3073G>T (p.Val1025Leu)	CIC (V1025L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024942	NM_001386298.1(CIC):c.3225C>T (p.Pro1075=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3024895	NM_001386298.1(CIC):c.6993G>A (p.Ser2331=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024261	NM_001386298.1(CIC):c.4665_4666del (p.Arg1555fs)	CIC (R1555fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3024217	NM_001386298.1(CIC):c.632G>A (p.Arg211His)	CIC (R211H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2692517	NM_001386298.1(CIC):c.4193G>A (p.Gly1398Asp)	CIC (G489D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692486	NM_001386298.1(CIC):c.1801G>A (p.Val601Met)	CIC (V601M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690927	NM_001386298.1(CIC):c.3928T>C (p.Phe1310Leu)	CIC (F1310L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2672772	NM_001386298.1(CIC):c.6476C>A (p.Pro2159His)	CIC (P1250H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2672771	NM_001386298.1(CIC):c.3371G>A (p.Arg1124Gln)	CIC (R1124Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672770	NM_001386298.1(CIC):c.507C>T (p.Ser169=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672769	NM_001386298.1(CIC):c.394G>C (p.Gly132Arg)	CIC (G132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672768	NM_001386298.1(CIC):c.255G>A (p.Pro85=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2664935	NM_001386298.1(CIC):c.6055C>T (p.Gln2019Ter)	CIC, PAFAH1B3 (Q1110* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
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 2663405	NM_001386298.1(CIC):c.6845C>T (p.Ser2282Phe)	CIC (S1372F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662556	NM_001386298.1(CIC):c.6073C>T (p.Pro2025Ser)	CIC (P1116S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662284	NM_001386298.1(CIC):c.4825T>G (p.Ser1609Ala)	CIC (S1609A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650025	NM_001386298.1(CIC):c.7499C>A (p.Ala2500Asp)	CIC (A1588D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650024	NM_001386298.1(CIC):c.7470G>A (p.Ser2490=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition +1 more	GLikely benign
Select item 2650023	NM_001386298.1(CIC):c.7464A>C (p.Pro2488=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650022	NM_001386298.1(CIC):c.7446G>A (p.Pro2482=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650021	NM_001386298.1(CIC):c.7419G>A (p.Ser2473=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650020	NM_001386298.1(CIC):c.7386C>T (p.Pro2462=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650019	NM_001386298.1(CIC):c.7383C>T (p.Ser2461=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related condition +1 more	GLikely benign
Select item 2650018	NM_001386298.1(CIC):c.7374C>G (p.Pro2458=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650017	NM_001386298.1(CIC):c.7110C>T (p.Ser2370=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650016	NM_001386298.1(CIC):c.6954G>A (p.Ser2318=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650015	NM_001386298.1(CIC):c.6879G>A (p.Arg2293=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650014	NM_001386298.1(CIC):c.6849C>A (p.Pro2283=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2650013	NM_001386298.1(CIC):c.6689G>A (p.Arg2230His)	CIC (R1321H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650012	NM_001386298.1(CIC):c.6546T>G (p.Ser2182=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650011	NM_001386298.1(CIC):c.6430C>G (p.Leu2144Val)	CIC (L1235V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650010	NM_001386298.1(CIC):c.6428C>T (p.Pro2143Leu)	CIC (P1234L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650009	NM_001386298.1(CIC):c.6402G>A (p.Gly2134=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650008	NM_001386298.1(CIC):c.6241C>T (p.Pro2081Ser)	CIC (P1172S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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