COL4A1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032836	NC_000013.11:g.110145211C>T	COL4A1	Single nucleotide variant	COL4A1-related disorder	GLikely benign
Select item 369034	NM_001845.5(COL4A1):c.*1404T>C	COL4A1	Single nucleotide variant	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GLikely benign
Select item 311003	NM_001845.6(COL4A1):c.*1099G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity
Select item 311004	NM_001845.6(COL4A1):c.*1039A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GUncertain significance
Select item 311005	NM_001845.6(COL4A1):c.*1014C>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GBenign/Likely benign
Select item 881414	NM_001845.6(COL4A1):c.*995C>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GUncertain significance
Select item 311006	NM_001845.6(COL4A1):c.*975A>C	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GBenign/Likely benign
Select item 881849	NM_001845.6(COL4A1):c.*952A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GUncertain significance
Select item 311007	NM_001845.6(COL4A1):c.*887del	COL4A1	Deletion (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GUncertain significance
Select item 881850	NM_001845.6(COL4A1):c.*838T>C	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GBenign
Select item 311008	NM_001845.6(COL4A1):c.*766G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GBenign/Likely benign
Select item 311009	NM_001845.6(COL4A1):c.*634AT[8]	COL4A1	Microsatellite (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GUncertain significance
Select item 311010	NM_001845.6(COL4A1):c.*609T>C	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GBenign/Likely benign
Select item 311011	NM_001845.6(COL4A1):c.*587C>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GBenign
Select item 311012	NM_001845.6(COL4A1):c.*531T>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GUncertain significance
Select item 883019	NM_001845.6(COL4A1):c.*530A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GUncertain significance
Select item 311013	NM_001845.6(COL4A1):c.*510A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GUncertain significance
Select item 311014	NM_001845.6(COL4A1):c.*477G>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GUncertain significance
Select item 883801	NM_001845.6(COL4A1):c.*433T>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GUncertain significance
Select item 311015	NM_001845.6(COL4A1):c.*265A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity
Select item 311016	NM_001845.6(COL4A1):c.*176A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GBenign/Likely benign
Select item 311017	NM_001845.6(COL4A1):c.*137G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +4 more	GUncertain significance
Select item 1301522	NM_001845.6(COL4A1):c.*36T>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Vascular dementia	GUncertain significance
Select item 2071537	NM_001845.6(COL4A1):c.*35del	COL4A1	Deletion (3 prime UTR variant)	not provided	GUncertain significance
Select item 689432	NM_001845.6(COL4A1):c.*35C>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	GPathogenic
Select item 689435	NM_001845.6(COL4A1):c.*32G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 689434	NM_001845.6(COL4A1):c.*32G>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	not provided	GPathogenic
Select item 2827593	NM_001845.6(COL4A1):c.*31G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1511223	NM_001845.6(COL4A1):c.*31G>C	COL4A1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 689433	NM_001845.6(COL4A1):c.*31G>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	GPathogenic
Select item 311018	NM_001845.6(COL4A1):c.*6C>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GUncertain significance
Select item 2717568	NM_001845.6(COL4A1):c.5007A>G (p.Thr1669=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2785505	NM_001845.6(COL4A1):c.5003G>C (p.Arg1668Thr)	COL4A1 (R1668T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663470	NM_001845.6(COL4A1):c.5003G>A (p.Arg1668Lys)	COL4A1 (R1668K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140032	NM_001845.6(COL4A1):c.4998G>A (p.Met1666Ile)	COL4A1 (M1666I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451373	NM_001845.6(COL4A1):c.4996A>G (p.Met1666Val)	COL4A1 (M1666V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197934	NM_001845.6(COL4A1):c.4994G>A (p.Cys1665Tyr)	COL4A1 (C1665Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1392217	NM_001845.6(COL4A1):c.4984T>C (p.Cys1662Arg)	COL4A1 (C1662R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934969	NM_001845.6(COL4A1):c.4982G>A (p.Arg1661His)	COL4A1 (R1661H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521435	NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)	COL4A1 (R1661C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2968969	NM_001845.6(COL4A1):c.4975G>C (p.Val1659Leu)	COL4A1 (V1659L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163782	NM_001845.6(COL4A1):c.4975G>A (p.Val1659Ile)	COL4A1 (V1659I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111854	NM_001845.6(COL4A1):c.4974C>T (p.His1658=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1714718	NM_001845.6(COL4A1):c.4972C>T (p.His1658Tyr)	COL4A1 (H1658Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923553	NM_001845.6(COL4A1):c.4971G>T (p.Thr1657=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1316354	NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met)	COL4A1 (T1657M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1495201	NM_001845.6(COL4A1):c.4968C>T (p.Arg1656=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2442573	NM_001845.6(COL4A1):c.4966C>A (p.Arg1656Ser)	COL4A1 (R1656S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1317097	NM_001845.6(COL4A1):c.4961A>T (p.Glu1654Val)	COL4A1 (E1654V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853753	NM_001845.6(COL4A1):c.4957G>C (p.Gly1653Arg)	COL4A1 (G1653R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316473	NM_001845.6(COL4A1):c.4949T>C (p.Leu1650Ser)	COL4A1 (L1650S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643935	NM_001845.6(COL4A1):c.4946C>G (p.Thr1649Ser)	COL4A1 (T1649S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126749	NM_001845.6(COL4A1):c.4941G>T (p.Pro1647=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311019	NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +6 more	GBenign/Likely benign
Select item 546730	NM_001845.6(COL4A1):c.4940C>T (p.Pro1647Leu)	COL4A1 (P1647L)	Single nucleotide variant (missense variant)	COL4A1 or COL4A2-related cerebral small vessel disease +1 more	GUncertain significance
Select item 1954773	NM_001845.6(COL4A1):c.4938G>A (p.Thr1646=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188382	NM_001845.6(COL4A1):c.4937C>T (p.Thr1646Met)	COL4A1 (T1646M)	Single nucleotide variant (missense variant)	COL4A1-related disorder +1 more	GUncertain significance
Select item 2035813	NM_001845.6(COL4A1):c.4929G>A (p.Lys1643=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2748265	NM_001845.6(COL4A1):c.4929-4T>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874741	NM_001845.6(COL4A1):c.4929-7G>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016694	NM_001845.6(COL4A1):c.4929-9G>C	COL4A1	Single nucleotide variant (intron variant)	not provided	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 1622019	NM_001845.6(COL4A1):c.4929-10C>T	COL4A1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 2843961	NM_001845.6(COL4A1):c.4929-16C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828743	NM_001845.6(COL4A1):c.4929-20G>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195475	NM_001845.6(COL4A1):c.4929-300T>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295668	NM_001845.6(COL4A1):c.4928+226C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215564	NM_001845.6(COL4A1):c.4928+205A>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208690	NM_001845.6(COL4A1):c.4928+154G>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255062	NM_001845.6(COL4A1):c.4928+68G>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2969370	NM_001845.6(COL4A1):c.4928+13A>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729541	NM_001845.6(COL4A1):c.4928+13A>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692465	NM_001845.6(COL4A1):c.4928+5G>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1411332	NM_001845.6(COL4A1):c.4928+2T>C	COL4A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 881914	NM_001845.6(COL4A1):c.4928A>G (p.Lys1643Arg)	COL4A1 (K1643R)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GUncertain significance
Select item 2187699	NM_001845.6(COL4A1):c.4927A>C (p.Lys1643Gln)	COL4A1 (K1643Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2153019	NM_001845.6(COL4A1):c.4927A>G (p.Lys1643Glu)	COL4A1 (K1643E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678582	NM_001845.6(COL4A1):c.4925T>A (p.Phe1642Tyr)	COL4A1 (F1642Y)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GUncertain significance
Select item 2728469	NM_001845.6(COL4A1):c.4923G>A (p.Met1641Ile)	COL4A1 (M1641I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934098	NM_001845.6(COL4A1):c.4920G>A (p.Glu1640=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147573	NM_001845.6(COL4A1):c.4919A>C (p.Glu1640Ala)	COL4A1 (E1640A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2859657	NM_001845.6(COL4A1):c.4918G>T (p.Glu1640Ter)	COL4A1 (E1640*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2192165	NM_001845.6(COL4A1):c.4918G>A (p.Glu1640Lys)	COL4A1 (E1640K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785480	NM_001845.6(COL4A1):c.4917C>T (p.Ser1639=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716629	NM_001845.6(COL4A1):c.4917C>A (p.Ser1639Arg)	COL4A1 (S1639R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727686	NM_001845.6(COL4A1):c.4912A>C (p.Arg1638=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883714	NM_001845.6(COL4A1):c.4907T>C (p.Ile1636Thr)	COL4A1 (I1636T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134868	NM_001845.6(COL4A1):c.4906A>G (p.Ile1636Val)	COL4A1 (I1636V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443729	NM_001845.6(COL4A1):c.4903A>G (p.Thr1635Ala)	COL4A1 (T1635A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936318	NM_001845.6(COL4A1):c.4900G>A (p.Ala1634Thr)	COL4A1 (A1634T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038035	NM_001845.6(COL4A1):c.4899C>T (p.Leu1633=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1331282	NM_001845.6(COL4A1):c.4888A>T (p.Ser1630Cys)	COL4A1 (S1630C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027966	NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter)	COL4A1 (Y1629*)	Single nucleotide variant (nonsense)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 2478858	NM_001845.6(COL4A1):c.4882G>T (p.Ala1628Ser)	COL4A1 (A1628S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1519969	NM_001845.6(COL4A1):c.4882G>A (p.Ala1628Thr)	COL4A1 (A1628T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342725	NM_001845.6(COL4A1):c.4881C>T (p.Asn1627=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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