Related gene-specific medical variations for Gene (Select 1282) - ClinVar

Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244209	NC_000013.10:g.(?_110850794)_(110859856_?)dup	COL4A1	Duplication	not provided	GLikely pathogenic
Select item 3244208	NC_000013.10:g.(?_110895002)_(110895101_?)dup	COL4A1	Duplication	not provided	GUncertain significance
Select item 3244206	NC_000013.10:g.(?_110858992)_(110862579_?)del	COL4A1	Deletion	not provided	GPathogenic
Select item 3244204	NC_000013.10:g.(?_110857680)_(110857905_?)del	COL4A1	Deletion	not provided	GPathogenic
Select item 3069147	NM_001845.6(COL4A1):c.3294del (p.Ser1101fs)	COL4A1 (S1101fs)	Deletion (frameshift variant)	COL4A1-related disorder	GPathogenic
Select item 3068485	NM_001845.6:c.(4756+1_4756-1)_(4928+1_4928-1)del	COL4A1	Deletion	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GLikely pathogenic
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 3018864	NM_001845.6(COL4A1):c.1346G>C (p.Gly449Ala)	COL4A1, LOC126861856 (G449A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2876854	NM_001845.6(COL4A1):c.1309G>A (p.Gly437Arg)	COL4A1, LOC126861856 (G437R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868229	NM_001845.6(COL4A1):c.1375G>C (p.Glu459Gln)	LOC126861856, COL4A1 (E459Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790920	NM_001845.6(COL4A1):c.1294G>T (p.Val432Leu)	COL4A1, LOC126861856 (V432L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787262	NM_001845.6(COL4A1):c.1352C>T (p.Pro451Leu)	COL4A1, LOC126861856 (P451L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690574	NM_001845.6(COL4A1):c.634G>C (p.Gly212Arg)	COL4A1 (G212R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2690573	NM_001845.6(COL4A1):c.536G>C (p.Gly179Ala)	COL4A1 (G179A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2688826	NM_001845.6(COL4A1):c.964A>G (p.Lys322Glu)	COL4A1 (K322E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688825	NM_001845.6(COL4A1):c.1937G>C (p.Gly646Ala)	COL4A1 (G646A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688824	NM_001845.6(COL4A1):c.269A>G (p.Lys90Arg)	COL4A1 (K90R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2440308	NM_001845.6(COL4A1):c.1862G>A (p.Gly621Asp)	COL4A1 (G621D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2440305	NM_001845.6(COL4A1):c.3907T>A (p.Ser1303Thr)	COL4A1 (S1303T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440303	NM_001845.6(COL4A1):c.1360A>T (p.Ile454Leu)	COL4A1, LOC126861856 (I454L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440301	NM_001845.6(COL4A1):c.3325+3A>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2440300	NM_001845.6(COL4A1):c.368C>T (p.Pro123Leu)	COL4A1 (P123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440299	NM_001845.6(COL4A1):c.2404G>T (p.Gly802Cys)	COL4A1 (G802C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440298	NM_001845.6(COL4A1):c.1397G>A (p.Ser466Asn)	COL4A1 (S466N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440297	NM_001845.6(COL4A1):c.3273_3290del (p.Met1092_Gly1097del)	COL4A1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2440295	NM_001845.6(COL4A1):c.3635T>C (p.Met1212Thr)	COL4A1 (M1212T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2199442	NM_001845.6(COL4A1):c.1381+19T>C	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2166857	NM_001845.6(COL4A1):c.1326G>C (p.Gln442His)	COL4A1, LOC126861856 (Q442H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153755	NM_001845.6(COL4A1):c.1308C>G (p.Pro436=)	COL4A1, LOC126861856	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062487	NM_001845.6(COL4A1):c.1344A>G (p.Pro448=)	COL4A1, LOC126861856	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029798	NM_001845.6(COL4A1):c.1286-14C>A	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1983346	NM_001845.6(COL4A1):c.1286-4T>C	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971512	NM_001845.6(COL4A1):c.1308C>T (p.Pro436=)	COL4A1, LOC126861856	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896043	NM_001845.6(COL4A1):c.1381+15T>C	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1697310	NM_001845.6:c.(4755+1_4756-1)_(4928+1_4929-1)del	COL4A1	Deletion	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GLikely pathogenic
Select item 1696643	NM_001845.6(COL4A1):c.1748G>A (p.Gly583Glu)	COL4A1 (G583E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614279	NM_001845.6(COL4A1):c.1381+19T>G	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1592592	NM_001845.6(COL4A1):c.1286-19T>C	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	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 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 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 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 1414809	NM_001845.6(COL4A1):c.1340T>C (p.Ile447Thr)	COL4A1, LOC126861856 (I447T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409803	NM_001845.6(COL4A1):c.1333C>T (p.Pro445Ser)	COL4A1, LOC126861856 (P445S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395658	NM_001845.6(COL4A1):c.1292T>C (p.Ile431Thr)	COL4A1, LOC126861856 (I431T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344676	NM_001845.6(COL4A1):c.2782G>C (p.Asp928His)	COL4A1 (D928H)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1341729	NM_001845.6(COL4A1):c.1121-986C>T	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1324116	NM_001845.6(COL4A1):c.1991-2A>G	COL4A1	Single nucleotide variant (splice acceptor variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GLikely pathogenic
Select item 1324115	NM_001845.6(COL4A1):c.3850G>A (p.Gly1284Arg)	COL4A1 (G1284R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1324113	NM_001845.6(COL4A1):c.2878G>A (p.Gly960Arg)	COL4A1 (G960R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1324112	NM_001845.6(COL4A1):c.2636G>A (p.Gly879Glu)	COL4A1 (G879E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1293369	NM_001845.6(COL4A1):c.1286-101G>A	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293050	NM_001845.6(COL4A1):c.1381+180A>G	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293047	NM_001845.6(COL4A1):c.1381+153T>C	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280569	NM_001845.6(COL4A1):c.1286-260T>C	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271728	NM_001845.6(COL4A1):c.1381+68C>G	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256082	NM_001845.6(COL4A1):c.2870G>A (p.Gly957Glu)	COL4A1 (G957E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1248072	NM_001845.6(COL4A1):c.1381+143C>A	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244200	NM_001845.6(COL4A1):c.1286-126A>G	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242373	NM_001845.6(COL4A1):c.1286-281T>C	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227750	NM_001845.6(COL4A1):c.1381+87G>A	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219944	NM_001845.6(COL4A1):c.1381+137C>A	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216508	NM_001845.6(COL4A1):c.1381+62T>G	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194041	NM_001845.6(COL4A1):c.1381+164C>T	COL4A1, LOC126861856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 932001	NM_001845.6(COL4A1):c.1081A>C (p.Lys361Gln)	COL4A1 (K361Q)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 931245	NM_001845.6(COL4A1):c.446C>G (p.Pro149Arg)	COL4A1 (P149R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 811443	NM_001845.6(COL4A1):c.1277G>C (p.Gly426Ala)	COL4A1 (G426A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 807559	NM_001845.6(COL4A1):c.1353dup (p.Gly452fs)	COL4A1, LOC126861856 (G452fs)	Duplication (frameshift variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 807059	GRCh37/hg19 13q34(chr13:110828771-110831768)x1	COL4A1	Copy number loss	not provided	GLikely pathogenic
Select item 807046	NM_001845.6(COL4A1):c.234G>A (p.Lys78=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 807043	NM_001845.6(COL4A1):c.4652G>T (p.Cys1551Phe)	COL4A1 (C1551F)	Single nucleotide variant (missense variant)	not provided	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 712713	NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val)	LOC126861856, COL4A1 (I454V)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GBenign/Likely benign
Select item 591950	NM_001845.6(COL4A1):c.862_866del (p.Lys288fs)	COL4A1 (K288fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591851	NM_001845.6(COL4A1):c.4129C>T (p.Pro1377Ser)	COL4A1 (P1377S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591846	NM_001845.6(COL4A1):c.626_627insT (p.Pro211fs)	COL4A1 (P211fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 591494	NM_001845.6(COL4A1):c.3031G>T (p.Gly1011Ter)	COL4A1 (G1011*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591288	NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala)	COL4A1 (G185A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591287	NM_001845.6(COL4A1):c.388G>A (p.Gly130Arg)	COL4A1 (G130R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591078	NM_001845.6(COL4A1):c.859-8_859del	COL4A1	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 374713	NM_001845.6(COL4A1):c.3133G>A (p.Ala1045Thr)	COL4A1 (A1045T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 38962	NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu)	COL4A1 (G590E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	Gnot provided

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Links from Gene

Items: 88