ClinVar for MedGen (Select 1616472) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370339	NM_001386298.1(CIC):c.638_640del (p.Asp213del)	CIC (D213del)	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3358946	NM_001386298.1(CIC):c.5903-1G>A	CIC	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 45 +1 more	GLikely pathogenic
Select item 3341300	NM_001386298.1(CIC):c.3826G>C (p.Glu1276Gln)	CIC (E1276Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3236380	NM_001386298.1(CIC):c.1358G>A (p.Arg453His)	CIC (R453H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3234904	NM_001386298.1(CIC):c.5449G>T (p.Ala1817Ser)	CIC (A1817S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3234056	NM_001386298.1(CIC):c.2322_2323del (p.Arg775fs)	CIC (R775fs)	Microsatellite (frameshift variant)	Intellectual disability, autosomal dominant 45	GPathogenic
Select item 3075672	NM_001386298.1(CIC):c.1027del (p.Trp343fs)	CIC (W343fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GPathogenic
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 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 3063953	NC_000019.9:g.(?_42785739)_(42791254_?)del	CIC	Deletion	Intellectual disability, autosomal dominant 45	GPathogenic
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 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 2690927	NM_001386298.1(CIC):c.3928T>C (p.Phe1310Leu)	CIC (F1310L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 2627955	NM_001386298.1(CIC):c.4273G>A (p.Gly1425Arg)	CIC (G1425R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2585385	NM_001386298.1(CIC):c.206G>A (p.Arg69Gln)	CIC (R69Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2585060	NM_001386298.1(CIC):c.2329C>T (p.Arg777Cys)	CIC (R777C)	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 2581048	NM_001386298.1(CIC):c.3428T>C (p.Leu1143Pro)	CIC (L1143P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 2499468	NM_001386298.1(CIC):c.6584G>A (p.Arg2195His)	CIC, PAFAH1B3 (R1286H +2 more)	Single nucleotide variant (missense variant)	Dias-Logan syndrome +1 more	GUncertain significance
Select item 2499467	NM_022893.4(BCL11A):c.1656C>T (p.Leu552=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	Dias-Logan syndrome +1 more	GUncertain significance
Select item 2444056	NM_001386298.1(CIC):c.7517dup (p.Pro2507fs)	CIC (P1595fs +4 more)	Duplication (frameshift 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 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 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 2430190	NM_001386298.1(CIC):c.6484G>T (p.Ala2162Ser)	CIC (A1253S +2 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 1805941	NM_001386298.1(CIC):c.6074dup (p.Ser2026fs)	CIC (S1117fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 45	GPathogenic
Select item 1805673	NM_001386298.1(CIC):c.4462G>A (p.Gly1488Arg)	CIC (G1488R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GLikely benign
Select item 1805659	NM_001386298.1(CIC):c.1216C>T (p.Pro406Ser)	CIC (P406S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1805467	NM_001386298.1(CIC):c.111_112del (p.Asp38fs)	CIC (D38fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 1805336	NM_001386298.1(CIC):c.5323C>T (p.Leu1775Phe)	CIC (L1775F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805295	NM_001386298.1(CIC):c.226C>A (p.Pro76Thr)	CIC (P76T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1804939	NM_001386298.1(CIC):c.793G>A (p.Val265Met)	CIC (V265M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1723880	NM_001386298.1(CIC):c.5424del (p.Ala1809fs)	CIC (A1809fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 1709980	NM_001386298.1(CIC):c.1026dup (p.Trp343fs)	CIC (W343fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
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 1699405	NM_001386298.1(CIC):c.2468A>G (p.Lys823Arg)	CIC (K823R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GLikely benign
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 1696517	NM_001386298.1(CIC):c.5282C>T (p.Ala1761Val)	CIC (A1761V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1683575	NM_001386298.1(CIC):c.594C>T (p.Asp198=)	CIC	Single nucleotide variant (synonymous 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 1341902	NM_001386298.1(CIC):c.2182C>T (p.Pro728Ser)	CIC (P728S)	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 1338808	NM_001386298.1(CIC):c.6793G>T (p.Glu2265Ter)	CIC (E1355* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 1335347	NM_001386298.1(CIC):c.572G>A (p.Gly191Asp)	CIC (G191D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1334748	NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter)	CIC (R528*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 1334565	NM_001386298.1(CIC):c.6920C>T (p.Thr2307Met)	CIC (T1397M +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45 +1 more	GUncertain significance
Select item 1333854	NM_001386298.1(CIC):c.6992C>T (p.Ser2331Leu)	CIC (S1421L +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1333853	NM_001386298.1(CIC):c.6422C>T (p.Pro2141Leu)	CIC (P1232L +2 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 1325506	NM_001386298.1(CIC):c.6292G>A (p.Val2098Met)	CIC (V1189M +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45 +1 more	GUncertain significance
Select item 1319940	NM_001386298.1(CIC):c.3044C>T (p.Pro1015Leu)	CIC (P1015L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1301614	NM_001386298.1(CIC):c.281A>G (p.Lys94Arg)	CIC (K94R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1301400	NM_001386298.1(CIC):c.6166_6167del (p.Ala2056fs)	CIC (A1147fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GPathogenic
Select item 1301399	NM_001386298.1(CIC):c.3410G>A (p.Arg1137Gln)	CIC (R1137Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1301398	NM_001386298.1(CIC):c.1100dup (p.Pro368fs)	CIC (P368fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 45	GPathogenic
Select item 1184393	NM_001386298.1(CIC):c.5884G>A (p.Val1962Met)	CIC (V1053M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45 +1 more	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 1174500	NM_001386298.1(CIC):c.6925C>T (p.Leu2309=)	CIC	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 45	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 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 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 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 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 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 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 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 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 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 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 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 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 983341	NM_001386298.1(CIC):c.577A>T (p.Thr193Ser)	CIC (T193S)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 983013	NM_001386298.1(CIC):c.6173C>G (p.Thr2058Ser)	CIC (T1149S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GLikely benign
Select item 982841	NM_001386298.1(CIC):c.4612C>T (p.Gln1538Ter)	CIC (Q1538* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 973295	NM_001386298.1(CIC):c.3407A>G (p.Asn1136Ser)	CIC (N1136S +1 more)	Single nucleotide variant (missense variant)	CIC-related neurodevelopmental disorders +2 more	GLikely pathogenic
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

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