ClinVar for MedGen (Select 1647320) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068554	NM_001845.6(COL4A1):c.89G>A (p.Gly30Asp)	COL4A1 (G30D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 3065866	NM_001845.6(COL4A1):c.1739G>A (p.Gly580Glu)	COL4A1 (G580E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 3064118	NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)	COL4A1 (G1411E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 2691895	NM_001845.6(COL4A1):c.3397G>A (p.Gly1133Arg)	COL4A1 (G1133R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 2691695	NM_001845.6(COL4A1):c.781G>A (p.Gly261Ser)	COL4A1 (G261S)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 2691279	NM_001845.6(COL4A1):c.2870G>C (p.Gly957Ala)	COL4A1 (G957A)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 2691254	NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)	COL4A1 (G359V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2682213	NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp)	COL4A1 (G58D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 2585456	NM_001845.6(COL4A1):c.647A>G (p.Glu216Gly)	COL4A1 (E216G)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 2584369	NM_001845.6(COL4A1):c.155G>A (p.Gly52Asp)	COL4A1 (G52D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 2582554	NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)	COL4A1 (G154M)	Indel (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 2582543	NM_001845.6(COL4A1):c.3139G>C (p.Gly1047Arg)	COL4A1 (G1047R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 2574700	NM_001845.6(COL4A1):c.2644G>T (p.Gly882Cys)	COL4A1 (G882C)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 2574151	NM_001845.6(COL4A1):c.2848A>G (p.Lys950Glu)	COL4A1 (K950E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 2504118	NM_001845.6(COL4A1):c.1991G>A (p.Gly664Glu)	COL4A1 (G664E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 2502317	NM_001845.6(COL4A1):c.3556+54_3877-1090del	COL4A1	Deletion (splice acceptor variant +1 more)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 2500294	NM_001845.6(COL4A1):c.3556+4A>G	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 2499610	NM_001845.6(COL4A1):c.2485G>T (p.Gly829Cys)	COL4A1 (G829C)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 2444271	NM_001845.6(COL4A1):c.3607C>T (p.Pro1203Ser)	COL4A1 (P1203S)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 2444192	NM_001845.6(COL4A1):c.4463G>T (p.Gly1488Val)	COL4A1 (G1488V)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 2442093	NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)	COL4A1 (Q57*)	Single nucleotide variant (nonsense)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
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 1878565	NM_001845.6(COL4A1):c.1670G>C (p.Arg557Thr)	COL4A1 (R557T)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1804089	NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)	COL4A1 (G1317V)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1803140	NM_001845.6(COL4A1):c.146G>A (p.Gly49Asp)	COL4A1 (G49D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1803019	NM_001845.6(COL4A1):c.3922G>A (p.Gly1308Arg)	COL4A1 (G1308R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1722319	NM_001845.6(COL4A1):c.2472A>G (p.Ile824Met)	COL4A1 (I824M)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1709775	NM_001845.6(COL4A1):c.4433G>A (p.Gly1478Asp)	COL4A1 (G1478D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1709035	NM_001845.6(COL4A1):c.2143C>T (p.Arg715Cys)	COL4A1 (R715C)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1708972	NM_001845.6(COL4A1):c.364A>C (p.Ile122Leu)	COL4A1 (I122L)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1708500	NM_001845.6(COL4A1):c.2708G>A (p.Gly903Asp)	COL4A1 (G903D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1708132	NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)	COL4A1 (L222*)	Single nucleotide variant (nonsense)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GPathogenic
Select item 1707545	NM_001845.6(COL4A1):c.2153_2154dup (p.Asn719fs)	COL4A1 (N719fs)	Duplication (frameshift variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 1705698	NM_001845.6(COL4A1):c.4660C>A (p.Pro1554Thr)	COL4A1 (P1554T)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1699185	NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala)	COL4A1 (P613A)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GUncertain significance
Select item 1685277	NM_001845.6(COL4A1):c.4250-2A>C	COL4A1	Single nucleotide variant (splice acceptor variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1679856	NM_001845.6(COL4A1):c.2527G>A (p.Gly843Arg)	COL4A1 (G843R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1679855	NM_001845.6(COL4A1):c.2888G>A (p.Gly963Asp)	COL4A1 (G963D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1679287	NM_001845.6(COL4A1):c.3298G>T (p.Gly1100Trp)	COL4A1 (G1100W)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1679252	NM_001845.6(COL4A1):c.3407-2del	COL4A1	Deletion (splice acceptor variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 1676299	NM_001845.6(COL4A1):c.2281G>A (p.Gly761Arg)	COL4A1 (G761R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
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)	not provided +5 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)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GLikely benign
Select item 1527968	NM_001845.6(COL4A1):c.2869G>A (p.Gly957Arg)	COL4A1 (G957R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1527881	NM_001845.6(COL4A1):c.2458+1G>C	COL4A1	Single nucleotide variant (splice donor variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 1526042	NM_001845.6(COL4A1):c.4022-1G>A	COL4A1	Single nucleotide variant (splice acceptor variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
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)	not provided +5 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 1492178	NM_001845.6(COL4A1):c.3743G>A (p.Gly1248Glu)	COL4A1 (G1248E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GLikely pathogenic
Select item 1474956	NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu)	COL4A1 (G1233E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GConflicting classifications of pathogenicity
Select item 1473186	NM_001845.6(COL4A1):c.1365C>T (p.Gly455=)	COL4A1, LOC126861856	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +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 1440046	NM_001845.6(COL4A1):c.2947_2964dup (p.Ala983_Gln988dup)	COL4A1	Duplication (inframe_insertion)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GUncertain significance
Select item 1433087	NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe)	COL4A1 (I772F)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +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)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 1417465	NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)	COL4A1 (R1063*)	Single nucleotide variant (nonsense)	COL4A1-related condition +6 more	GPathogenic/Likely pathogenic
Select item 1417095	NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +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)	Hemorrhage, intracerebral, susceptibility to +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

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