"Illumina Laboratory Services, Illumina"[submitter] AND "COL5A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 365696	NM_000093.5(COL5A1):c.-382C>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 365697	NM_000093.5(COL5A1):c.-364G>C	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 365698	NM_000093.5(COL5A1):c.-357G>T	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365699	NM_000093.5(COL5A1):c.-287G>C	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365700	NM_000093.5(COL5A1):c.-276AGG[7]	COL5A1	Microsatellite (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365701	NM_000093.5(COL5A1):c.-247T>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 915167	NM_000093.5(COL5A1):c.-199C>T	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, classic type	GBenign
Select item 365702	NM_000093.5(COL5A1):c.-139G>T	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365703	NM_000093.5(COL5A1):c.-110A>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 136921	NM_000093.5(COL5A1):c.-37G>A	COL5A1	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GBenign/Likely benign
Select item 506690	NM_000093.5(COL5A1):c.-4C>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 365704	NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe)	COL5A1 (L13F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 212930	NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)	COL5A1 (P21S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GBenign/Likely benign
Select item 212915	NM_000093.5(COL5A1):c.126C>T (p.Leu42=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome type 7A +6 more	GConflicting classifications of pathogenicity
Select item 213006	NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)	COL5A1 (R65W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GBenign/Likely benign
Select item 213007	NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)	COL5A1 (R65Q)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +6 more	GBenign/Likely benign
Select item 195014	NM_000093.5(COL5A1):c.240C>T (p.Asp80=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 136917	NM_000093.5(COL5A1):c.252C>T (p.Ser84=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 212916	NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)	COL5A1 (A93V)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +8 more	GBenign/Likely benign
Select item 213010	NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)	COL5A1 (A114D)	Single nucleotide variant (missense variant)	not specified +7 more	GLikely benign
Select item 365705	NM_000093.5(COL5A1):c.365A>G (p.Glu122Gly)	COL5A1 (E122G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 213011	NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)	COL5A1 (Q123E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GConflicting classifications of pathogenicity
Select item 136918	NM_000093.5(COL5A1):c.378G>T (p.Gln126His)	COL5A1 (Q126H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 365706	NM_000093.5(COL5A1):c.431C>A (p.Thr144Lys)	COL5A1 (T144K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +1 more	GConflicting classifications of pathogenicity
Select item 913576	NM_000093.5(COL5A1):c.432G>T (p.Thr144=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +1 more	GLikely benign
Select item 519635	NM_000093.5(COL5A1):c.446C>T (p.Pro149Leu)	COL5A1 (P149L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 180298	NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)	COL5A1 (V172F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +6 more	GConflicting classifications of pathogenicity
Select item 136919	NM_000093.5(COL5A1):c.573C>T (p.Leu191=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 136920	NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)	COL5A1 (D192N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 136922	NM_000093.5(COL5A1):c.738C>T (p.Thr246=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign
Select item 365707	NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr)	COL5A1 (A247T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 237008	NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu)	COL5A1 (S254L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +6 more	GBenign/Likely benign
Select item 790416	NM_000093.5(COL5A1):c.774T>C (p.Asn258=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GConflicting classifications of pathogenicity
Select item 136924	NM_000093.5(COL5A1):c.787-15G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 365708	NM_000093.5(COL5A1):c.787-9C>T	COL5A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 212921	NM_000093.5(COL5A1):c.804C>T (p.Gly268=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 198041	NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)	COL5A1 (E269K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +5 more	GConflicting classifications of pathogenicity
Select item 365709	NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys)	COL5A1 (E284K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 212922	NM_000093.5(COL5A1):c.924+13C>T	COL5A1	Single nucleotide variant (intron variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 136925	NM_000093.5(COL5A1):c.924+14G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 212924	NM_000093.5(COL5A1):c.996C>T (p.Asp332=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +7 more	GBenign/Likely benign
Select item 136926	NM_000093.5(COL5A1):c.1062C>T (p.Asp354=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 698030	NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 212925	NM_000093.5(COL5A1):c.1077G>A (p.Glu359=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +7 more	GBenign/Likely benign
Select item 136927	NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign
Select item 212926	NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +7 more	GBenign/Likely benign
Select item 219284	NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser)	COL5A1 (N388S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 136928	NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GConflicting classifications of pathogenicity
Select item 365710	NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala)	COL5A1 (T424A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 365711	NM_000093.5(COL5A1):c.1332+4dup	COL5A1	Duplication (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 136929	NM_000093.5(COL5A1):c.1333-8A>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 212929	NM_000093.5(COL5A1):c.1350C>T (p.Gly450=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GConflicting classifications of pathogenicity
Select item 198991	NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GConflicting classifications of pathogenicity
Select item 136930	NM_000093.5(COL5A1):c.1431G>A (p.Ala477=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +6 more	GBenign
Select item 136931	NM_000093.5(COL5A1):c.1432-5T>C	COL5A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign
Select item 255051	NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 136860	NM_000093.5(COL5A1):c.1566G>A (p.Leu522=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 136861	NM_000093.5(COL5A1):c.1569+15C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign/Likely benign
Select item 38863	NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)	COL5A1 (G530S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +8 more	GBenign/Likely benign
Select item 212937	NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)	COL5A1 (A546V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +4 more	GConflicting classifications of pathogenicity
Select item 365712	NM_000093.5(COL5A1):c.1734C>T (p.Ser578=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 365713	NM_000093.5(COL5A1):c.1830T>C (p.Gly610=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 136863	NM_000093.5(COL5A1):c.1935+8T>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 701246	NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)	COL5A1 (P656L)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +4 more	GConflicting classifications of pathogenicity
Select item 365714	NM_000093.5(COL5A1):c.1989G>C (p.Arg663Ser)	COL5A1 (R663S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 212889	NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +7 more	GBenign/Likely benign
Select item 212890	NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +5 more	GBenign/Likely benign
Select item 213040	NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met)	COL5A1 (T699M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +7 more	GLikely benign
Select item 365715	NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr)	COL5A1 (A728T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GLikely benign
Select item 912549	NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser)	COL5A1 (P765S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +1 more	GConflicting classifications of pathogenicity
Select item 365716	NM_000093.5(COL5A1):c.2331+15C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 236998	NM_000093.5(COL5A1):c.2386-6G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 136867	NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 255063	NM_000093.5(COL5A1):c.2493C>T (p.Ile831=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 365717	NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser)	COL5A1 (N852S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 212950	NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg)	COL5A1 (P855R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 213044	NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val)	COL5A1 (E863V)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 136869	NM_000093.5(COL5A1):c.2724G>A (p.Pro908=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 136870	NM_000093.5(COL5A1):c.2745+15A>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 516348	NM_000093.5(COL5A1):c.2751G>A (p.Pro917=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +5 more	GBenign/Likely benign
Select item 136871	NM_000093.5(COL5A1):c.2799+4T>C	COL5A1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 136875	NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)	COL5A1 (N951S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 136876	NM_000093.5(COL5A1):c.2892C>T (p.Gly964=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GBenign/Likely benign
Select item 136877	NM_000093.5(COL5A1):c.2952+11A>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign
Select item 264088	NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met)	COL5A1 (T1005M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 213047	NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met)	COL5A1 (T1008M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +4 more	GConflicting classifications of pathogenicity
Select item 197054	NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome type 7A +5 more	GConflicting classifications of pathogenicity
Select item 365718	NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 914561	NM_000093.5(COL5A1):c.3115-14G>A	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign/Likely benign
Select item 365719	NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 212958	NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser)	COL5A1 (P1083S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 212899	NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GConflicting classifications of pathogenicity
Select item 509267	NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +4 more	GLikely benign
Select item 384233	NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +3 more	GLikely benign
Select item 914562	NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +2 more	GLikely benign
Select item 136879	NM_000093.5(COL5A1):c.3474+7C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 572790	NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu)	COL5A1 (P1164L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 365720	NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 365721	NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 136880	NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity

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