"PreventionGenetics, part of Exact Sciences"[submitter] AND "COL4A1"[g - 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 2111854	NM_001845.6(COL4A1):c.4974C>T (p.His1658=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder +1 more	GLikely benign
Select item 2188382	NM_001845.6(COL4A1):c.4937C>T (p.Thr1646Met)	COL4A1 (T1646M)	Single nucleotide variant (missense variant)	not provided +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 762723	NM_001845.6(COL4A1):c.4851C>T (p.His1617=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 546731	NM_001845.6(COL4A1):c.4803C>T (p.Pro1601=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 258260	NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GBenign
Select item 258259	NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GBenign/Likely benign
Select item 2193572	NM_001845.6(COL4A1):c.4740C>T (p.Gly1580=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1546348	NM_001845.6(COL4A1):c.4706C>T (p.Pro1569Leu)	COL4A1 (P1569L)	Single nucleotide variant (missense variant)	COL4A1-related disorder +1 more	GLikely benign
Select item 311020	NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val)	COL4A1 (A1553V)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GBenign/Likely benign
Select item 258256	NM_001845.6(COL4A1):c.4640+16G>A	COL4A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 258257	NM_001845.6(COL4A1):c.4640+7C>T	COL4A1	Single nucleotide variant (intron variant)	Porencephalic cyst +4 more	GBenign
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 2632938	NM_001845.6(COL4A1):c.4565G>T (p.Trp1522Leu)	COL4A1 (W1522L)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 3051533	NM_001845.6(COL4A1):c.4494C>T (p.Ser1498=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder	GLikely benign
Select item 258255	NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=)	COL4A1	Single nucleotide variant (synonymous variant)	Porencephalic cyst +4 more	GBenign
Select item 311023	NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp)	COL4A1 (R1481W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1627937	NM_001845.6(COL4A1):c.4407C>T (p.His1469=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder +1 more	GLikely benign
Select item 3059637	NM_001845.6(COL4A1):c.4377G>A (p.Gln1459=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder	GLikely benign
Select item 2633464	NM_001845.6(COL4A1):c.4348A>G (p.Arg1450Gly)	COL4A1 (R1450G)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 1667412	NM_001845.6(COL4A1):c.4281C>T (p.Pro1427=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2916940	NM_001845.6(COL4A1):c.4150+9G>C	COL4A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 197543	NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 3036938	NM_001845.6(COL4A1):c.4041C>A (p.Gly1347=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder	GLikely benign
Select item 2430627	NM_001845.6(COL4A1):c.4001_4002delinsGC (p.Gln1334Arg)	COL4A1 (Q1334R)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 197520	NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His)	COL4A1 (Q1334H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 311032	NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +7 more	GBenign/Likely benign
Select item 418141	NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu)	COL4A1 (Q1316E)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GConflicting classifications of pathogenicity
Select item 258253	NM_001845.6(COL4A1):c.3877-9C>T	COL4A1	Single nucleotide variant (intron variant)	Porencephalic cyst +4 more	GBenign
Select item 3048399	NM_001845.6(COL4A1):c.3877-23C>G	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 1302769	NM_001845.6(COL4A1):c.3877-30C>A	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder +1 more	GBenign
Select item 3046293	NM_001845.6(COL4A1):c.3877-39T>C	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 2724232	NM_001845.6(COL4A1):c.3876+9T>C	COL4A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2631473	NM_001845.6(COL4A1):c.3851G>A (p.Gly1284Glu)	COL4A1 (G1284E)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GLikely pathogenic
Select item 2201588	NM_001845.6(COL4A1):c.3749C>T (p.Pro1250Leu)	COL4A1 (P1250L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 258252	NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GBenign
Select item 2413834	NM_001845.6(COL4A1):c.3645G>A (p.Pro1215=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2803557	NM_001845.6(COL4A1):c.3557-3C>G	COL4A1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1944089	NM_001845.6(COL4A1):c.3505+7C>G	COL4A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2628754	NM_001845.6(COL4A1):c.3376G>T (p.Asp1126Tyr)	COL4A1 (D1126Y)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 311040	NM_001845.6(COL4A1):c.3326-13dup	COL4A1	Duplication (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +8 more	GBenign/Likely benign
Select item 2200032	NM_001845.6(COL4A1):c.3325+8del	COL4A1	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1551426	NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 311043	NM_001845.6(COL4A1):c.3198+10G>A	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GBenign/Likely benign
Select item 3057696	NM_001845.6(COL4A1):c.3198+9C>T	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 2631504	NM_001845.6(COL4A1):c.3187_3189delinsTGT (p.Arg1063Cys)	COL4A1 (R1063C)	Indel (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 258251	NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=)	COL4A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 258250	NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GBenign
Select item 2912947	NM_001845.6(COL4A1):c.3059-7T>C	COL4A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3030128	NM_001845.6(COL4A1):c.2969-7del	COL4A1	Deletion (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3036396	NM_001845.6(COL4A1):c.2969-10A>G	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 311047	NM_001845.6(COL4A1):c.2955G>C (p.Gln985His)	COL4A1 (Q985H)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GBenign/Likely benign
Select item 311048	NM_001845.6(COL4A1):c.2869+6T>C	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3061221	NM_001845.6(COL4A1):c.2869G>T (p.Gly957Ter)	COL4A1 (G957*)	Single nucleotide variant (nonsense)	COL4A1-related disorder	GLikely pathogenic
Select item 800231	NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)	COL4A1 (P902R)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1633999	NM_001845.6(COL4A1):c.2658C>T (p.Thr886=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 196775	NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)	COL4A1 (S857L)	Single nucleotide variant (missense variant)	COL4A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 772611	NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu)	COL4A1 (Q848E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3044735	NM_001845.6(COL4A1):c.2520C>T (p.Gly840=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder	GLikely benign
Select item 1377983	NM_001845.6(COL4A1):c.2516C>T (p.Pro839Leu)	COL4A1 (P839L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2633221	NM_001845.6(COL4A1):c.2486G>T (p.Gly829Val)	COL4A1 (G829V)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GLikely pathogenic
Select item 995283	NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu)	COL4A1 (P816L)	Single nucleotide variant (missense variant)	COL4A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3050331	NM_001845.6(COL4A1):c.2407C>T (p.Pro803Ser)	COL4A1 (P803S)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 710886	NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu)	COL4A1 (V798L)	Single nucleotide variant (missense variant)	COL4A1-related disorder +6 more	GLikely benign
Select item 1396945	NM_001845.6(COL4A1):c.2377G>A (p.Val793Met)	COL4A1 (V793M)	Single nucleotide variant (missense variant)	COL4A1-related disorder +1 more	GUncertain significance
Select item 2723801	NM_001845.6(COL4A1):c.2293G>A (p.Val765Ile)	COL4A1 (V765I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 258249	NM_001845.6(COL4A1):c.2130G>A (p.Pro710=)	COL4A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 3049801	NM_001845.6(COL4A1):c.2096-3C>T	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3045215	NM_001845.6(COL4A1):c.2095+7C>T	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 2048051	NM_001845.6(COL4A1):c.2081C>T (p.Pro694Leu)	COL4A1 (P694L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3061046	NM_001845.6(COL4A1):c.2066T>C (p.Ile689Thr)	COL4A1 (I689T)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 870803	NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)	COL4A1 (G670R)	Single nucleotide variant (missense variant)	COL4A1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 258248	NM_001845.6(COL4A1):c.1991-16G>A	COL4A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1640154	NM_001845.6(COL4A1):c.1990+7T>C	COL4A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3061169	NM_001845.6(COL4A1):c.1897G>T (p.Gly633Cys)	COL4A1 (G633C)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 1699185	NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala)	COL4A1 (P613A)	Single nucleotide variant (missense variant)	COL4A1-related disorder +1 more	GUncertain significance
Select item 423825	NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val)	COL4A1 (G607V)	Single nucleotide variant (missense variant)	COL4A1-related disorder +1 more	GUncertain significance
Select item 195950	NM_001845.6(COL4A1):c.1815T>C (p.Pro605=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 2634926	NM_001845.6(COL4A1):c.1796A>G (p.Asp599Gly)	COL4A1 (D599G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 +6 more	GConflicting classifications of pathogenicity
Select item 1628327	NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys)	COL4A1 (R585C)	Single nucleotide variant (missense variant)	COL4A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3055034	NM_001845.6(COL4A1):c.1748G>T (p.Gly583Val)	COL4A1 (G583V)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 767499	NM_001845.6(COL4A1):c.1725G>A (p.Ser575=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 311062	NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val)	COL4A1 (A558V)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GBenign/Likely benign
Select item 258247	NM_001845.6(COL4A1):c.1663= (p.Pro555=)	COL4A1	Single nucleotide variant (no sequence alteration)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GBenign
Select item 195868	NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)	COL4A1 (P530S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 3058288	NM_001845.6(COL4A1):c.1536+595C>T	COL4A1	Single nucleotide variant (3 prime UTR variant +1 more)	COL4A1-related disorder	GLikely benign
Select item 3061119	NM_001845.6(COL4A1):c.1536+1G>A	COL4A1	Single nucleotide variant (splice donor variant)	COL4A1-related disorder	GLikely pathogenic
Select item 1664212	NM_001845.6(COL4A1):c.1534C>T (p.Pro512Ser)	COL4A1 (P512S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 771592	NM_001845.6(COL4A1):c.1494C>T (p.Gly498=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder +1 more	GBenign/Likely benign
Select item 195811	NM_001845.6(COL4A1):c.1466-6C>T	COL4A1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 882476	NM_001845.6(COL4A1):c.1437C>T (p.Pro479=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder +3 more	GBenign/Likely benign
Select item 762068	NM_001845.6(COL4A1):c.1425T>C (p.Tyr475=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder +1 more	GLikely benign
Select item 712713	NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val)	COL4A1, LOC126861856 (I454V)	Single nucleotide variant (missense variant)	COL4A1-related disorder +4 more	GBenign/Likely benign
Select item 258246	NM_001845.6(COL4A1):c.1257T>C (p.Pro419=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2630656	NM_001845.6(COL4A1):c.1180G>A (p.Gly394Ser)	COL4A1 (G394S)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
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 3032557	NM_001845.6(COL4A1):c.1023A>G (p.Gly341=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder	GLikely benign

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