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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136921	NM_000093.5(COL5A1):c.-37G>A	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 696848	NM_000093.5(COL5A1):c.57G>A (p.Leu19=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 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 +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, classic type +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)	Fibromuscular dysplasia, multifocal +7 more	GBenign/Likely benign
Select item 618035	NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu)	COL5A1 (P71L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 513641	NM_000093.5(COL5A1):c.219C>T (p.Val73=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GLikely benign
Select item 1203897	NM_000093.5(COL5A1):c.243G>A (p.Ala81=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GBenign/Likely benign
Select item 212916	NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)	COL5A1 (A93V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +8 more	GBenign/Likely benign
Select item 213010	NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)	COL5A1 (A114D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +6 more	GLikely benign
Select item 213011	NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)	COL5A1 (Q123E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +5 more	GConflicting classifications of pathogenicity
Select item 841126	NM_000093.5(COL5A1):c.508C>G (p.Leu170Val)	COL5A1 (L170V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 618582	NM_000093.5(COL5A1):c.558G>A (p.Lys186=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 136919	NM_000093.5(COL5A1):c.573C>T (p.Leu191=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 136920	NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)	COL5A1 (D192N)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 213070	NM_000093.5(COL5A1):c.597C>G (p.Ile199Met)	COL5A1 (I199M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +4 more	GLikely benign
Select item 519659	NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu)	COL5A1 (D220E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 618037	NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)	COL5A1 (V227A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 459718	NM_000093.5(COL5A1):c.735C>T (p.Asp245=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +3 more	GLikely benign
Select item 698204	NM_000093.5(COL5A1):c.801C>T (p.Asp267=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 212921	NM_000093.5(COL5A1):c.804C>T (p.Gly268=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 365709	NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys)	COL5A1 (E284K)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 2920977	NM_000093.5(COL5A1):c.924+18G>C	COL5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 439537	NM_000093.5(COL5A1):c.925-44C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign
Select item 212924	NM_000093.5(COL5A1):c.996C>T (p.Asp332=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 212926	NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 439531	NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 136928	NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 638919	NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys)	COL5A1 (E414K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1109486	NM_000093.5(COL5A1):c.1290C>T (p.Ile430=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 213021	NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)	COL5A1 (P435A)	Single nucleotide variant (missense variant)	Abnormal bleeding +4 more	GConflicting classifications of pathogenicity
Select item 439538	NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val)	COL5A1 (A436V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 255049	NM_000093.5(COL5A1):c.1332+46T>C	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type +4 more	GBenign
Select item 439524	NM_000093.5(COL5A1):c.1332+92C>G	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 198991	NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 255051	NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 236996	NM_000093.5(COL5A1):c.1476C>T (p.Val492=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GLikely benign
Select item 1256656	NM_000093.5(COL5A1):c.1495-11C>A	COL5A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 439530	NM_000093.5(COL5A1):c.1496G>C (p.Gly499Ala)	COL5A1 (G499A)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 439525	NM_000093.5(COL5A1):c.1570-59T>C	COL5A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 38863	NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)	COL5A1 (G530S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GBenign/Likely benign
Select item 439535	NM_000093.5(COL5A1):c.1827+11C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1330449	NM_000093.5(COL5A1):c.1827+12G>A	COL5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 459660	NM_000093.5(COL5A1):c.1882-5del	COL5A1	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 212944	NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)	COL5A1 (R630W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 700236	NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln)	COL5A1 (R630Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 409096	NM_000093.5(COL5A1):c.1920C>T (p.Gly640=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 136863	NM_000093.5(COL5A1):c.1935+8T>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 255058	NM_000093.5(COL5A1):c.1936-21G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type +4 more	GBenign
Select item 212886	NM_000093.5(COL5A1):c.1953C>T (p.Ser651=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 2428511	NM_000093.5(COL5A1):c.1989+14C>T	COL5A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 212888	NM_000093.5(COL5A1):c.1998C>T (p.Asp666=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 697348	NM_000093.5(COL5A1):c.2013C>T (p.Pro671=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 212889	NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +7 more	GBenign/Likely benign
Select item 1330690	NM_000093.5(COL5A1):c.2088+18C>G	COL5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 213040	NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met)	COL5A1 (T699M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GLikely benign
Select item 212891	NM_000093.5(COL5A1):c.2134-11G>C	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 365715	NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr)	COL5A1 (A728T)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 264028	NM_000093.5(COL5A1):c.2238C>T (p.Pro746=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 1330754	NM_000093.5(COL5A1):c.2262A>G (p.Gly754=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330652	NM_000093.5(COL5A1):c.2430+16C>T	COL5A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 519654	NM_000093.5(COL5A1):c.2543G>A (p.Arg848His)	COL5A1 (R848H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 136868	NM_000093.5(COL5A1):c.2592+16C>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign
Select item 439529	NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)	COL5A1 (Q879K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 439533	NM_000093.5(COL5A1):c.2646+12C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 439536	NM_000093.5(COL5A1):c.2700+38G>A	COL5A1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 409104	NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu)	COL5A1 (P908L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 136869	NM_000093.5(COL5A1):c.2724G>A (p.Pro908=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GBenign/Likely benign
Select item 212951	NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu)	COL5A1 (P917L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 136871	NM_000093.5(COL5A1):c.2799+4T>C	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GBenign/Likely benign
Select item 136872	NM_000093.5(COL5A1):c.2799+11G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 136874	NM_000093.5(COL5A1):c.2800-18C>A	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +3 more	GBenign
Select item 700302	NM_000093.5(COL5A1):c.2845-8G>A	COL5A1	Single nucleotide variant (intron variant)	not provided +2 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)	not provided +6 more	GBenign/Likely benign
Select item 1516693	NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser)	COL5A1 (P995S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 212956	NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly)	COL5A1 (V1068G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GUncertain significance
Select item 409105	NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val)	COL5A1 (A1086V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 426317	NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)	COL5A1 (G1087A)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +3 more	GConflicting classifications of pathogenicity
Select item 280931	NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter)	COL5A1 (R1133*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome +2 more	GPathogenic
Select item 384233	NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 459678	NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 212901	NM_000093.5(COL5A1):c.3691-9T>C	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 213049	NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu)	COL5A1 (P1263L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 459682	NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)	COL5A1 (P1271L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 136882	NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 136884	NM_000093.5(COL5A1):c.3906+10C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 212904	NM_000093.5(COL5A1):c.3906+19C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 136885	NM_000093.5(COL5A1):c.3906+20G>A	COL5A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 377728	NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 365725	NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)	COL5A1 (E1313D)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2428617	NM_000093.5(COL5A1):c.3945C>T (p.Gly1315=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1224408	NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser)	COL5A1 (G1318S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1330485	NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu)	COL5A1 (P1323L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 212969	NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)	COL5A1 (P1328R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +7 more	GConflicting classifications of pathogenicity
Select item 136887	NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 212971	NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +2 more	GConflicting classifications of pathogenicity

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