ClinVar for MedGen (Select 140840) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2158622	NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)	COL4A1 (G115S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1661123	NM_001845.6(COL4A1):c.808-13T>G	COL4A1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1657276	NM_001845.6(COL4A1):c.4449T>C (p.His1483=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1656774	NM_001845.6(COL4A1):c.3713G>A (p.Arg1238His)	COL4A1 (R1238H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GLikely benign
Select item 1656604	NM_001845.6(COL4A1):c.4462+8G>A	COL4A1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1654111	NM_001845.6(COL4A1):c.4716C>T (p.Ser1572=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1646487	NM_001845.6(COL4A1):c.3742+14dup	COL4A1	Duplication (intron variant)	not provided +5 more	GLikely benign
Select item 1640150	NM_001845.6(COL4A1):c.324+16G>A	COL4A1	Single nucleotide variant (intron variant)	not specified +6 more	GLikely benign
Select item 1637389	NM_001845.6(COL4A1):c.4560G>A (p.Ser1520=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1627573	NM_001845.6(COL4A1):c.3198+9C>A	COL4A1	Single nucleotide variant (intron variant)	Retinal arterial tortuosity +5 more	GLikely benign
Select item 1622019	NM_001845.6(COL4A1):c.4929-10C>T	COL4A1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1613837	NM_001845.6(COL4A1):c.958-4del	COL4A1	Deletion (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GBenign/Likely benign
Select item 1606557	NM_001845.6(COL4A1):c.2532T>C (p.Asp844=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1606433	NM_001845.6(COL4A1):c.1461A>G (p.Glu487=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GLikely benign
Select item 1603635	NM_001845.6(COL4A1):c.4770T>G (p.Gly1590=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GLikely benign
Select item 1600995	NM_001845.6(COL4A1):c.387+14C>T	COL4A1	Single nucleotide variant (intron variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more	GBenign/Likely benign
Select item 1596276	NM_001845.6(COL4A1):c.2716+16A>G	COL4A1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1590263	NM_001845.6(COL4A1):c.3492G>A (p.Glu1164=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GLikely benign
Select item 1590205	NM_001845.6(COL4A1):c.1286-18_1286-17del	COL4A1, LOC126861856	Microsatellite (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1588740	NM_001845.6(COL4A1):c.1929T>C (p.Pro643=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1588463	NM_001845.6(COL4A1):c.4728G>A (p.Ser1576=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1573029	NM_001845.6(COL4A1):c.234+7A>G	COL4A1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1572036	NM_001845.6(COL4A1):c.1656C>T (p.Pro552=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1571383	NM_001845.6(COL4A1):c.3306C>T (p.Pro1102=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1569774	NM_001845.6(COL4A1):c.324+20T>C	COL4A1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1566756	NM_001845.6(COL4A1):c.1084+19T>C	COL4A1	Single nucleotide variant (intron variant)	Hemorrhage, intracerebral, susceptibility to +5 more	GLikely benign
Select item 1561233	NM_001845.6(COL4A1):c.4151-20T>C	COL4A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1551426	NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +6 more	GLikely benign
Select item 1550149	NM_001845.6(COL4A1):c.3615C>G (p.Ser1205=)	COL4A1	Single nucleotide variant (synonymous variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more	GLikely benign
Select item 1548183	NM_001845.6(COL4A1):c.280-11C>T	COL4A1	Single nucleotide variant (intron variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more	GLikely benign
Select item 1545891	NM_001845.6(COL4A1):c.4463-15T>C	COL4A1	Single nucleotide variant (intron variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more	GLikely benign
Select item 1541575	NM_001845.6(COL4A1):c.4249+9C>T	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GLikely benign
Select item 1539935	NM_001845.6(COL4A1):c.1084+20C>T	COL4A1	Single nucleotide variant (intron variant)	Hemorrhage, intracerebral, susceptibility to +5 more	GLikely benign
Select item 1530631	NM_001845.6(COL4A1):c.3831C>T (p.Pro1277=)	COL4A1	Single nucleotide variant (synonymous variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more	GLikely benign
Select item 1518720	NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val)	COL4A1 (M1092V)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 1510164	NM_001845.6(COL4A1):c.502G>A (p.Gly168Arg)	COL4A1 (G168R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1506586	NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del)	COL4A1 (R1668del)	Microsatellite (inframe_deletion)	not provided +5 more	GUncertain significance
Select item 1499304	NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg)	COL4A1 (S300R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1497859	NM_001845.6(COL4A1):c.1454C>T (p.Pro485Leu)	COL4A1 (P485L)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +5 more	GUncertain significance
Select item 1495572	NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His)	COL4A1 (R1619H)	Single nucleotide variant (missense variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more	GUncertain significance
Select item 1473186	NM_001845.6(COL4A1):c.1365C>T (p.Gly455=)	LOC126861856, COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1458341	NM_001845.6(COL4A1):c.2244C>T (p.Pro748=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1433087	NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe)	COL4A1 (I772F)	Single nucleotide variant (missense variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more	GUncertain significance
Select item 1431097	NM_001845.6(COL4A1):c.1366G>A (p.Glu456Lys)	COL4A1, LOC126861856 (E456K)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GUncertain significance
Select item 1421338	NM_001845.6(COL4A1):c.1847A>G (p.Asp616Gly)	COL4A1 (D616G)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1417465	NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)	COL4A1 (R1063*)	Single nucleotide variant (nonsense)	COL4A1-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 1417095	NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GConflicting classifications of pathogenicity
Select item 1411872	NM_001845.6(COL4A1):c.1672G>A (p.Ala558Thr)	COL4A1 (A558T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1409089	NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp)	COL4A1 (E1048D)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 1405019	NM_001845.6(COL4A1):c.441C>T (p.Pro147=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GUncertain significance
Select item 1403737	NM_001845.6(COL4A1):c.2183A>G (p.Gln728Arg)	COL4A1 (Q728R)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 1401342	NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala)	COL4A1 (P629A)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 1399529	NM_001845.6(COL4A1):c.858+4A>T	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 1376495	NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu)	COL4A1 (P739L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1370351	NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu)	COL4A1 (P902L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 1355757	NM_001845.6(COL4A1):c.4462+3A>G	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 1348007	NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp)	COL4A1 (R538W)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 1344995	NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu)	COL4A1 (P1054L)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1328674	NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser)	COL4A1 (P1075S)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +6 more	GUncertain significance
Select item 1328308	NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg)	COL4A1 (P734R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1326219	NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser)	COL4A1 (P694S)	Single nucleotide variant (missense variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +6 more	GConflicting classifications of pathogenicity
Select item 1319044	NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys)	COL4A1 (R1656C)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +5 more	GUncertain significance
Select item 1318940	NM_001845.6(COL4A1):c.3188G>A (p.Arg1063Gln)	COL4A1 (R1063Q)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +5 more	GUncertain significance
Select item 1317267	NM_001845.6(COL4A1):c.4756-22_4756-5dup	COL4A1	Duplication (intron variant)	not provided +5 more	GLikely benign
Select item 1301894	NM_012330.4(KAT6B):c.5040C>G (p.Tyr1680Ter)	KAT6B (Y1117* +7 more)	Single nucleotide variant (nonsense)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +4 more	GPathogenic
Select item 1301893	NM_001845.6(COL4A1):c.4250-1G>A	COL4A1	Single nucleotide variant (splice acceptor variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1299803	NM_001845.6(COL4A1):c.1121-18G>A	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +6 more	GBenign/Likely benign
Select item 1206038	NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)	COL4A1 (R585H)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1179197	NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys)	COL4A1 (G568C)	Single nucleotide variant (missense variant)	not provided +6 more	GLikely pathogenic
Select item 1176977	NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr)	COL4A1 (A144T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1163068	NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)	COL4A1 (D1333N)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1050508	NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1027964	NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg)	COL4A1 (K1235R)	Single nucleotide variant (missense variant)	Retinal arterial tortuosity +1 more	GUncertain significance
Select item 1025669	NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg)	COL4A1 (S759R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1004088	NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His)	COL4A1 (R1656H)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GUncertain significance
Select item 995282	NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)	COL4A1 (R715H)	Single nucleotide variant (missense variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +6 more	GConflicting classifications of pathogenicity
Select item 916411	NM_001845.6(COL4A1):c.606C>T (p.Thr202=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 884191	NM_001845.6(COL4A1):c.1419C>T (p.Asp473=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 881471	NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GBenign/Likely benign
Select item 880784	NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg)	COL4A1 (Q865R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GUncertain significance
Select item 880572	NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala)	COL4A1 (V1389A)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 813669	NM_001845.6(COL4A1):c.1453C>G (p.Pro485Ala)	COL4A1 (P485A)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +4 more	GUncertain significance
Select item 807047	NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys)	COL4A1 (Q66K)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 807045	NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn)	COL4A1 (D499N)	Single nucleotide variant (missense variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more	GUncertain significance
Select item 804572	NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu)	COL4A1 (P364L)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +6 more	GUncertain significance
Select item 789637	NM_001845.6(COL4A1):c.1381+8A>G	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more	GLikely benign
Select item 784913	NM_001845.6(COL4A1):c.477A>T (p.Pro159=)	COL4A1	Single nucleotide variant (synonymous variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +6 more	GLikely benign
Select item 774383	NM_001845.6(COL4A1):c.1881A>G (p.Gly627=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GBenign/Likely benign
Select item 772969	NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser)	COL4A1 (P902S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 772118	NM_001845.6(COL4A1):c.957+7G>A	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GBenign/Likely benign
Select item 767316	NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +6 more	GLikely benign
Select item 753855	NM_001845.6(COL4A1):c.4929-9G>A	COL4A1	Single nucleotide variant (intron variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more	GLikely benign
Select item 737912	NM_001845.6(COL4A1):c.958-10T>C	COL4A1	Single nucleotide variant (intron variant)	Hemorrhage, intracerebral, susceptibility to +5 more	GBenign/Likely benign
Select item 734489	NM_001845.6(COL4A1):c.3714C>T (p.Arg1238=)	COL4A1	Single nucleotide variant (synonymous variant)	Retinal arterial tortuosity +5 more	GLikely benign
Select item 731116	NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 730908	NM_001845.6(COL4A1):c.831A>G (p.Lys277=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GBenign/Likely benign
Select item 715098	NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=)	COL4A1	Single nucleotide variant (synonymous variant)	Retinal arterial tortuosity +6 more	GBenign/Likely benign
Select item 710886	NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu)	COL4A1 (V798L)	Single nucleotide variant (missense variant)	not provided +7 more	GLikely benign
Select item 708895	NM_001845.6(COL4A1):c.2448G>A (p.Pro816=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 596811	NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu)	COL4A1 (K1120E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GUncertain significance

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