C2673195[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Porencephalic cyst +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)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GBenign/Likely benign
Select item 881414	NM_001845.6(COL4A1):c.*995C>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GUncertain significance
Select item 311006	NM_001845.6(COL4A1):c.*975A>C	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +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)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GUncertain significance
Select item 881850	NM_001845.6(COL4A1):c.*838T>C	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GBenign
Select item 311008	NM_001845.6(COL4A1):c.*766G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Porencephalic cyst +2 more	GBenign/Likely benign
Select item 311009	NM_001845.6(COL4A1):c.*634AT[8]	COL4A1	Microsatellite (3 prime UTR variant)	Porencephalic cyst +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)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GBenign
Select item 311012	NM_001845.6(COL4A1):c.*531T>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Porencephalic cyst +2 more	GUncertain significance
Select item 883019	NM_001845.6(COL4A1):c.*530A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GUncertain significance
Select item 311013	NM_001845.6(COL4A1):c.*510A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Porencephalic cyst +2 more	GUncertain significance
Select item 311014	NM_001845.6(COL4A1):c.*477G>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	Porencephalic cyst +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)	Porencephalic cyst +2 more	GConflicting classifications of pathogenicity
Select item 311016	NM_001845.6(COL4A1):c.*176A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Porencephalic cyst +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 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 881471	NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=)	COL4A1	Single nucleotide variant (synonymous variant)	Hemorrhage, intracerebral, susceptibility to +5 more	GBenign/Likely 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 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 258260	NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +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 311020	NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val)	COL4A1 (A1553V)	Single nucleotide variant (missense variant)	COL4A1-related condition +3 more	GBenign/Likely benign
Select item 311021	NM_001845.6(COL4A1):c.4640+8G>A	COL4A1	Single nucleotide variant (intron variant)	Hemorrhage, intracerebral, susceptibility to +3 more	GBenign/Likely benign
Select item 258257	NM_001845.6(COL4A1):c.4640+7C>T	COL4A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 883090	NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val)	COL4A1 (M1531V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 258255	NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 311022	NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)	COL4A1 (R1481Q)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity
Select item 311023	NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp)	COL4A1 (R1481W)	Single nucleotide variant (missense variant)	COL4A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 311024	NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu)	COL4A1 (P1424L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 311025	NM_001845.6(COL4A1):c.4250-12C>T	COL4A1	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 311026	NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr)	COL4A1 (M1410T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 880572	NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala)	COL4A1 (V1389A)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +5 more	GUncertain significance
Select item 311027	NM_001845.6(COL4A1):c.4150+3G>A	COL4A1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197543	NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +4 more	GBenign/Likely benign
Select item 311028	NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 311029	NM_001845.6(COL4A1):c.4021+14T>A	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GConflicting classifications of pathogenicity
Select item 311030	NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu)	COL4A1 (P1337L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 311031	NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 197520	NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His)	COL4A1 (Q1334H)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GBenign
Select item 197519	NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GBenign/Likely benign
Select item 311032	NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related condition +7 more	GBenign/Likely benign
Select item 311033	NM_001845.6(COL4A1):c.3949+10C>T	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GBenign/Likely benign
Select item 418141	NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu)	COL4A1 (Q1316E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GConflicting classifications of pathogenicity
Select item 311034	NM_001845.6(COL4A1):c.3877-8G>A	COL4A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 258253	NM_001845.6(COL4A1):c.3877-9C>T	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GBenign
Select item 715098	NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=)	COL4A1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 880648	NM_001845.6(COL4A1):c.3743-15C>T	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GLikely benign
Select item 311035	NM_001845.6(COL4A1):c.3742+14G>A	COL4A1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 258252	NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=)	COL4A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 311036	NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)	COL4A1 (M1212L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 311037	NM_001845.6(COL4A1):c.3557-14T>C	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity
Select item 311038	NM_001845.6(COL4A1):c.3506-7C>G	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GBenign/Likely benign
Select item 311039	NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg)	COL4A1 (T1144R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 883215	NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile)	COL4A1 (S1110I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 311040	NM_001845.6(COL4A1):c.3326-13dup	COL4A1	Duplication (intron variant)	COL4A1-related condition +8 more	GBenign/Likely benign
Select item 311041	NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 311042	NM_001845.6(COL4A1):c.3241A>G (p.Lys1081Glu)	COL4A1 (K1081E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GUncertain significance
Select item 884005	NM_001845.6(COL4A1):c.3238G>A (p.Glu1080Lys)	COL4A1 (E1080K)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GUncertain significance
Select item 311043	NM_001845.6(COL4A1):c.3198+10G>A	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related condition +3 more	GBenign/Likely benign
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 258250	NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 311044	NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)	COL4A1 (P1055L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 880718	NM_001845.6(COL4A1):c.3082C>T (p.Pro1028Ser)	COL4A1 (P1028S)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GBenign
Select item 880719	NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GLikely benign
Select item 311045	NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=)	COL4A1	Single nucleotide variant (synonymous variant)	Porencephalic cyst +2 more	GUncertain significance
Select item 882119	NM_001845.6(COL4A1):c.2985A>G (p.Pro995=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GLikely benign
Select item 311046	NM_001845.6(COL4A1):c.2968+12A>G	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GConflicting classifications of pathogenicity
Select item 311047	NM_001845.6(COL4A1):c.2955G>C (p.Gln985His)	COL4A1 (Q985H)	Single nucleotide variant (missense variant)	COL4A1-related condition +4 more	GBenign/Likely benign
Select item 196947	NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)	COL4A1 (R968Q)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity
Select item 311048	NM_001845.6(COL4A1):c.2869+6T>C	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 883266	NM_001845.6(COL4A1):c.2774A>G (p.Asp925Gly)	COL4A1 (D925G)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GUncertain significance
Select item 311049	NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu)	COL4A1 (P911L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 311050	NM_001845.6(COL4A1):c.2706G>A (p.Pro902=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GUncertain significance
Select item 800231	NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)	COL4A1 (P902R)	Single nucleotide variant (missense variant)	COL4A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 311051	NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile)	COL4A1 (V883I)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 884075	NM_001845.6(COL4A1):c.2641A>G (p.Met881Val)	COL4A1 (M881V)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GBenign
Select item 311052	NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)	COL4A1 (P875R)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GConflicting classifications of pathogenicity
Select item 880784	NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg)	COL4A1 (Q865R)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +4 more	GUncertain significance
Select item 880785	NM_001845.6(COL4A1):c.2571G>A (p.Ser857=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GLikely benign
Select item 764314	NM_001845.6(COL4A1):c.2517G>A (p.Pro839=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GBenign/Likely benign
Select item 880786	NM_001845.6(COL4A1):c.2492C>T (p.Pro831Leu)	COL4A1 (P831L)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GUncertain significance
Select item 882176	NM_001845.6(COL4A1):c.2344+12C>A	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GConflicting classifications of pathogenicity
Select item 311053	NM_001845.6(COL4A1):c.2344+11G>A	COL4A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882177	NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg)	COL4A1 (Q778R)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity
Select item 882178	NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)	COL4A1 (V762A)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GLikely benign
Select item 311054	NM_001845.6(COL4A1):c.2262C>T (p.Pro754=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 311055	NM_001845.6(COL4A1):c.2160C>T (p.Gly720=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 258249	NM_001845.6(COL4A1):c.2130G>A (p.Pro710=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 311056	NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)	COL4A1 (P709L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 311057	NM_001845.6(COL4A1):c.2124G>A (p.Gly708=)	COL4A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 311058	NM_001845.6(COL4A1):c.2103C>T (p.Asp701=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 311059	NM_001845.6(COL4A1):c.2095+7C>G	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity
Select item 884135	NM_001845.6(COL4A1):c.2016A>G (p.Pro672=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GUncertain significance
Select item 311060	NM_001845.6(COL4A1):c.2007C>T (p.Pro669=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

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