"Ambry Genetics"[submitter] AND "CIC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2601535	NM_001386298.1(CIC):c.2795-2040G>A	CIC (M9I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2319850	NM_001386298.1(CIC):c.2873C>T (p.Pro958Leu)	CIC (P958L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558750	NM_001386298.1(CIC):c.2884G>A (p.Val962Met)	CIC (V53M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629813	NM_001386298.1(CIC):c.2966T>C (p.Val989Ala)	CIC (V80A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2232099	NM_001386298.1(CIC):c.2999G>A (p.Ser1000Asn)	CIC (S1000N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1013168	NM_001386298.1(CIC):c.3171T>G (p.His1057Gln)	CIC (H1057Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1064629	NM_001386298.1(CIC):c.3179+1G>T	CIC	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2523898	NM_001386298.1(CIC):c.3305A>G (p.Asn1102Ser)	CIC (N1102S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2338270	NM_001386298.1(CIC):c.3578C>T (p.Thr1193Met)	CIC (T1193M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388706	NM_001386298.1(CIC):c.3611C>A (p.Thr1204Lys)	CIC (T1204K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238025	NM_001386298.1(CIC):c.3614G>A (p.Arg1205Gln)	CIC (R296Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364955	NM_001386298.1(CIC):c.3625A>G (p.Met1209Val)	CIC (M1209V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3267340	NM_001386298.1(CIC):c.3662C>T (p.Ser1221Phe)	CIC (S312F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2233709	NM_001386298.1(CIC):c.3704C>G (p.Ser1235Ter)	CIC (S326* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3267343	NM_001386298.1(CIC):c.3733T>C (p.Cys1245Arg)	CIC (C336R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267346	NM_001386298.1(CIC):c.3753C>G (p.His1251Gln)	CIC (H342Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241138	NM_001386298.1(CIC):c.3809A>G (p.His1270Arg)	CIC (H1270R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271120	NM_001386298.1(CIC):c.3820G>A (p.Gly1274Ser)	CIC (G1274S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267339	NM_001386298.1(CIC):c.3830T>C (p.Val1277Ala)	CIC (V1277A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2359702	NM_001386298.1(CIC):c.3842C>T (p.Ala1281Val)	CIC (A1281V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231878	NM_001386298.1(CIC):c.3857C>T (p.Thr1286Met)	CIC (T1286M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2611355	NM_001386298.1(CIC):c.3955T>G (p.Leu1319Val)	CIC (L1319V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206711	NM_001386298.1(CIC):c.4018A>G (p.Ser1340Gly)	CIC (S431G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2388011	NM_001386298.1(CIC):c.4031C>T (p.Thr1344Met)	CIC (T435M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2222955	NM_001386298.1(CIC):c.4093G>A (p.Asp1365Asn)	CIC (D456N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2540113	NM_001386298.1(CIC):c.4136G>A (p.Arg1379Gln)	CIC (R1379Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2231817	NM_001386298.1(CIC):c.4202G>A (p.Arg1401Gln)	CIC (R492Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144961	NM_001386298.1(CIC):c.4310A>G (p.Tyr1437Cys)	CIC (Y1437C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2501209	NM_001386298.1(CIC):c.4334C>G (p.Ala1445Gly)	CIC (A1445G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2228379	NM_001386298.1(CIC):c.4334C>T (p.Ala1445Val)	CIC (A536V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359907	NM_001386298.1(CIC):c.4361C>T (p.Ser1454Leu)	CIC (S1454L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 754471	NM_001386298.1(CIC):c.4468C>T (p.Pro1490Ser)	CIC (P1490S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3144962	NM_001386298.1(CIC):c.4537G>A (p.Glu1513Lys)	CIC (E1513K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144963	NM_001386298.1(CIC):c.4585C>T (p.Pro1529Ser)	CIC (P1529S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2271767	NM_001386298.1(CIC):c.4595G>A (p.Gly1532Glu)	CIC (G1532E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144964	NM_001386298.1(CIC):c.4636A>G (p.Lys1546Glu)	CIC (K1546E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 133894	NM_001386298.1(CIC):c.4636_4638del (p.Lys1546del)	CIC (K637del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 133903	NM_001386298.1(CIC):c.4654G>A (p.Gly1552Ser)	CIC (G643S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2305248	NM_001386298.1(CIC):c.4658G>C (p.Gly1553Ala)	CIC (G1553A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388349	NM_001386298.1(CIC):c.4670C>T (p.Pro1557Leu)	CIC (P1557L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144965	NM_001386298.1(CIC):c.4727C>T (p.Pro1576Leu)	CIC (P1576L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470041	NM_001386298.1(CIC):c.4757G>A (p.Arg1586Gln)	CIC (R677Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2261148	NM_001386298.1(CIC):c.4814G>A (p.Arg1605Gln)	CIC (R1605Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144966	NM_001386298.1(CIC):c.4862G>T (p.Gly1621Val)	CIC (G1621V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 133897	NM_001386298.1(CIC):c.4873C>T (p.Arg1625Trp)	CIC (R716W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3267345	NM_001386298.1(CIC):c.4906T>G (p.Leu1636Val)	CIC, LOC130064572 (L727V +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 2393770	NM_001386298.1(CIC):c.4951C>T (p.Pro1651Ser)	CIC (P1651S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3144967	NM_001386298.1(CIC):c.4955A>G (p.His1652Arg)	CIC (H1652R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518948	NM_001386298.1(CIC):c.5135A>G (p.Asn1712Ser)	CIC (N1712S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2368016	NM_001386298.1(CIC):c.5140C>T (p.Pro1714Ser)	CIC (P1714S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2440085	NM_001386298.1(CIC):c.5299C>T (p.Pro1767Ser)	CIC (P1767S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2390447	NM_001386298.1(CIC):c.5314C>T (p.Arg1772Cys)	CIC (R863C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552075	NM_001386298.1(CIC):c.5381G>C (p.Gly1794Ala)	CIC (G1794A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144968	NM_001386298.1(CIC):c.5429A>G (p.Gln1810Arg)	CIC (Q1810R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272190	NM_001386298.1(CIC):c.5467T>A (p.Ser1823Thr)	CIC (S1823T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317771	NM_001386298.1(CIC):c.5509G>C (p.Ala1837Pro)	CIC (A1837P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267903	NM_001386298.1(CIC):c.5509G>A (p.Ala1837Thr)	CIC (A1837T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2246047	NM_001386298.1(CIC):c.5512C>A (p.Pro1838Thr)	CIC (P1838T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298948	NM_001386298.1(CIC):c.5519T>G (p.Met1840Arg)	CIC (M931R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384521	NM_001386298.1(CIC):c.5520G>A (p.Met1840Ile)	CIC (M931I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339756	NM_001386298.1(CIC):c.5581C>T (p.Pro1861Ser)	CIC (P1861S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267344	NM_001386298.1(CIC):c.5606C>T (p.Pro1869Leu)	CIC (P1869L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601013	NM_001386298.1(CIC):c.5606C>G (p.Pro1869Arg)	CIC (P1869R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284403	NM_001386298.1(CIC):c.5614-6C>T	CIC	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2581227	NM_001386298.1(CIC):c.5650A>G (p.Ser1884Gly)	CIC (S1884G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2220073	NM_001386298.1(CIC):c.5683C>T (p.Leu1895Phe)	CIC (L986F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294556	NM_001386298.1(CIC):c.5736-5G>A	CIC	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2478325	NM_001386298.1(CIC):c.5818T>A (p.Ser1940Thr)	CIC (S1031T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610170	NM_001386298.1(CIC):c.5824G>A (p.Gly1942Arg)	CIC (G1942R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 735244	NM_001386298.1(CIC):c.5857T>C (p.Ser1953Pro)	CIC (S1953P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2292163	NM_001386298.1(CIC):c.5866C>A (p.Pro1956Thr)	CIC (P1047T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2258129	NM_001386298.1(CIC):c.6164C>T (p.Pro2055Leu)	CIC (P1146L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2344965	NM_001386298.1(CIC):c.6205A>G (p.Met2069Val)	CIC (M2068V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 208699	NM_001386298.1(CIC):c.6209C>T (p.Thr2070Ile)	CIC (T1161I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540954	NM_001386298.1(CIC):c.6221T>C (p.Val2074Ala)	CIC (V2074A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239926	NM_001386298.1(CIC):c.6238C>T (p.Arg2080Trp)	CIC (R2080W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144970	NM_001386298.1(CIC):c.6239G>A (p.Arg2080Gln)	CIC (R1171Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319201	NM_001386298.1(CIC):c.6322C>T (p.Arg2108Trp)	CIC (R1199W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236160	NM_001386298.1(CIC):c.6409A>G (p.Thr2137Ala)	CIC (T1228A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2593241	NM_001386298.1(CIC):c.6499A>G (p.Ser2167Gly)	CIC (S2167G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3267338	NM_001386298.1(CIC):c.6509G>A (p.Gly2170Asp)	CIC (G2169D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623908	NM_001386298.1(CIC):c.6571G>T (p.Gly2191Cys)	CIC (G2191C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1690745	NM_001386298.1(CIC):c.6611C>T (p.Pro2204Leu)	CIC (P1295L +2 more)	Single nucleotide variant (missense variant)	See cases +2 more	GLikely benign
Select item 985390	NM_001386298.1(CIC):c.6638G>A (p.Gly2213Asp)	CIC (G1304D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133916	NM_001386298.1(CIC):c.6683C>T (p.Pro2228Leu)	CIC (P1319L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267347	NM_001386298.1(CIC):c.6701C>G (p.Ala2234Gly)	CIC (A2233G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278443	NM_001386298.1(CIC):c.6709G>T (p.Gly2237Cys)	CIC (G1328C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490130	NM_001386298.1(CIC):c.6764A>G (p.Asp2255Gly)	CIC (D1346G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 522114	NM_001386298.1(CIC):c.6767+2T>C	CIC	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2339360	NM_001386298.1(CIC):c.6839T>C (p.Leu2280Pro)	CIC (L1371P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144972	NM_001386298.1(CIC):c.6988A>G (p.Ser2330Gly)	CIC (S1420G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521984	NM_001386298.1(CIC):c.7046dup (p.Asp2349fs)	CIC (D1440fs +3 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 975209	NM_001386298.1(CIC):c.7054+4C>A	CIC	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2261149	NM_001386298.1(CIC):c.7201G>A (p.Ala2401Thr)	CIC (A1489T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596976	NM_001386298.1(CIC):c.7354A>G (p.Thr2452Ala)	CIC (T1543A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144973	NM_001386298.1(CIC):c.7387G>T (p.Ala2463Ser)	CIC (A2463S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 977398	NM_001386298.1(CIC):c.7387G>A (p.Ala2463Thr)	CIC (A1551T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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