"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380649	NM_000093.5(COL5A1):c.12T>C (p.His4=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 212930	NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)	COL5A1 (P21S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +8 more	GBenign/Likely benign
Select item 285805	NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)	COL5A1	Microsatellite (inframe_insertion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 212915	NM_000093.5(COL5A1):c.126C>T (p.Leu42=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +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)	Connective tissue disorder +7 more	GBenign/Likely benign
Select item 1702204	NM_000093.5(COL5A1):c.198A>G (p.Arg66=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
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 +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, classic type +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 1702214	NM_000093.5(COL5A1):c.441T>C (p.Pro147=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
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 213015	NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)	COL5A1 (D200N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 1702221	NM_000093.5(COL5A1):c.613A>G (p.Ile205Val)	COL5A1 (I205V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702222	NM_000093.5(COL5A1):c.655-2A>T	COL5A1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome +2 more	GLikely pathogenic
Select item 459717	NM_000093.5(COL5A1):c.684G>A (p.Ser228=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1702223	NM_000093.5(COL5A1):c.741A>G (p.Ala247=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
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 213018	NM_000093.5(COL5A1):c.944C>T (p.Thr315Met)	COL5A1 (T315M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 672187	NM_000093.5(COL5A1):c.987G>A (p.Lys329=)	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)	not specified +7 more	GBenign/Likely benign
Select item 212926	NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 213020	NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr)	COL5A1 (A397T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +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 +6 more	GConflicting classifications of pathogenicity
Select item 529245	NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)	COL5A1 (P427L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +3 more	GConflicting classifications of pathogenicity
Select item 213021	NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)	COL5A1 (P435A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 213023	NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp)	COL5A1 (R449W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
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 700128	NM_000093.5(COL5A1):c.1587C>T (p.Gly529=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 38863	NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)	COL5A1 (G530S)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 212884	NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 1702203	NM_000093.5(COL5A1):c.1724C>T (p.Pro575Leu)	COL5A1 (P575L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 212944	NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)	COL5A1 (R630W)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 194807	NM_000093.5(COL5A1):c.1896C>T (p.Phe632=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 136863	NM_000093.5(COL5A1):c.1935+8T>G	COL5A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 213039	NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu)	COL5A1 (P657L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 212889	NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 281486	NM_000093.5(COL5A1):c.2034+1G>A	COL5A1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic
Select item 136864	NM_000093.5(COL5A1):c.2089-9C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 213040	NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met)	COL5A1 (T699M)	Single nucleotide variant (missense variant)	not provided +6 more	GLikely benign
Select item 212948	NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu)	COL5A1 (P762L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 212893	NM_000093.5(COL5A1):c.2310T>A (p.Pro770=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +5 more	GBenign/Likely benign
Select item 17191	NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter)	COL5A1 (R792*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome +1 more	GPathogenic
Select item 1702205	NM_000093.5(COL5A1):c.2383A>G (p.Lys795Glu)	COL5A1 (K795E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 648784	NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val)	COL5A1 (A797V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 136867	NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 1161005	NM_000093.5(COL5A1):c.2485-10T>C	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +2 more	GLikely benign
Select item 1702206	NM_000093.5(COL5A1):c.2508C>T (p.Pro836=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 213044	NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val)	COL5A1 (E863V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 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 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)	Ehlers-Danlos syndrome +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 +6 more	GBenign/Likely benign
Select item 212952	NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys)	COL5A1 (E983K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 662439	NM_000093.5(COL5A1):c.2952+2_2952+3del	COL5A1	Microsatellite (splice donor variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic/Likely pathogenic
Select item 1702207	NM_000093.5(COL5A1):c.2992G>C (p.Val998Leu)	COL5A1 (V998L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702208	NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
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 264078	NM_000093.5(COL5A1):c.3087G>A (p.Pro1029=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 212956	NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly)	COL5A1 (V1068G)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 365719	NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1702209	NM_000093.5(COL5A1):c.3259G>T (p.Gly1087Ter)	COL5A1 (G1087*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 509267	NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GLikely benign
Select item 213048	NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met)	COL5A1 (V1140M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 136879	NM_000093.5(COL5A1):c.3474+7C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1702210	NM_000093.5(COL5A1):c.3577C>A (p.Pro1193Thr)	COL5A1 (P1193T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 136880	NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1702211	NM_000093.5(COL5A1):c.3609G>C (p.Arg1203=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 212901	NM_000093.5(COL5A1):c.3691-9T>C	COL5A1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 1550622	NM_000093.5(COL5A1):c.3786T>G (p.Ala1262=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1702212	NM_000093.5(COL5A1):c.3809_3810dup (p.Pro1271fs)	COL5A1 (P1271fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 136882	NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +6 more	GBenign/Likely benign
Select item 567302	NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 212967	NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr)	COL5A1 (A1290T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 136883	NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 212902	NM_000093.5(COL5A1):c.3905C>T (p.Pro1302Leu)	COL5A1 (P1302L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 700622	NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +3 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 212969	NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)	COL5A1 (P1328R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GConflicting classifications of pathogenicity
Select item 1702213	NM_000093.5(COL5A1):c.4014+1G>A	COL5A1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 136887	NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +8 more	GBenign/Likely benign
Select item 419573	NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)	COL5A1 (T1374M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 136890	NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)	COL5A1 (P1379S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 136892	NM_000093.5(COL5A1):c.4230+5C>T	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +9 more	GBenign/Likely benign
Select item 136893	NM_000093.5(COL5A1):c.4230+6G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 439534	NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GLikely benign
Select item 212906	NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 1080184	NM_000093.5(COL5A1):c.4347A>G (p.Gln1449=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 365728	NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu)	COL5A1 (P1457L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 702703	NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn)	COL5A1 (D1458N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 391271	NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 136897	NM_000093.5(COL5A1):c.4393-9C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 136898	NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +8 more	GBenign/Likely benign
Select item 136899	NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 1702215	NM_000093.5(COL5A1):c.4555-6T>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 136901	NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 1117832	NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 212984	NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)	LOC101448202, COL5A1 (S1548L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1702217	NM_000093.5(COL5A1):c.4645-4C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance

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