"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "COL5A1"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 459666	NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys)	COL5A1 (R10C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
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 213003	NM_000093.5(COL5A1):c.145C>T (p.His49Tyr)	COL5A1 (H49Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 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 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 212917	NM_000093.5(COL5A1):c.279G>A (p.Ala93=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 521736	NM_000093.5(COL5A1):c.305T>C (p.Ile102Thr)	COL5A1 (I102T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 1012633	NM_000093.5(COL5A1):c.629G>A (p.Arg210Gln)	COL5A1 (R210Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 624375	NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu)	COL5A1 (S228L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 624376	NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp)	COL5A1 (R231W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 759274	NM_000093.5(COL5A1):c.756A>C (p.Pro252=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 519623	NM_000093.5(COL5A1):c.791C>T (p.Thr264Met)	COL5A1 (T264M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +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 1104322	NM_000093.5(COL5A1):c.846C>T (p.Asp282=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 213018	NM_000093.5(COL5A1):c.944C>T (p.Thr315Met)	COL5A1 (T315M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 672187	NM_000093.5(COL5A1):c.987G>A (p.Lys329=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 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 529281	NM_000093.5(COL5A1):c.999C>T (p.Val333=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2041763	NM_000093.5(COL5A1):c.1006G>A (p.Gly336Arg)	COL5A1 (G336R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 645589	NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro)	COL5A1 (S350P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
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 1012634	NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys)	COL5A1 (E375K)	Single nucleotide variant (missense variant)	COL5A1-related condition +2 more	GConflicting classifications of pathogenicity
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 1163514	NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met)	COL5A1 (T408M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 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 459653	NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1])	COL5A1	Microsatellite (inframe_deletion)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 415447	NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 212928	NM_000093.5(COL5A1):c.1293G>T (p.Gly431=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 1769220	NM_000093.5(COL5A1):c.1296G>A (p.Pro432=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 213024	NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys)	COL5A1 (E451K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 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 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 426926	NM_000093.5(COL5A1):c.1502del (p.Pro501fs)	COL5A1 (P501fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 236997	NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser)	COL5A1 (G514S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 212943	NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)	COL5A1 (R611W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 700236	NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln)	COL5A1 (R630Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 212887	NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 870970	NM_000093.5(COL5A1):c.1989+1G>A	COL5A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 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 213029	NM_000093.5(COL5A1):c.2159dup (p.Gly721fs)	COL5A1 (G721fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 810464	NM_000093.5(COL5A1):c.2237C>G (p.Pro746Arg)	COL5A1 (P746R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026631	NM_000093.5(COL5A1):c.2331+3G>A	COL5A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 212949	NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu)	COL5A1 (P785L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 374561	NM_000093.5(COL5A1):c.2382C>T (p.Val794=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 547057	NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys)	COL5A1 (E812K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
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 385270	NM_000093.5(COL5A1):c.2484+6C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 213043	NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile)	COL5A1 (N852I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 236999	NM_000093.5(COL5A1):c.2676C>A (p.Gly892=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 624377	NM_000093.5(COL5A1):c.2765G>T (p.Gly922Val)	COL5A1 (G922V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1365179	NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala)	COL5A1 (P996A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
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 932411	NM_000093.5(COL5A1):c.3060del (p.Gly1021fs)	COL5A1 (G1021fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2895641	NM_000093.5(COL5A1):c.3228T>C (p.Asn1076=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +1 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 515455	NM_000093.5(COL5A1):c.3303C>A (p.Ile1101=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 264544	NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
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 280931	NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter)	COL5A1 (R1133*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic
Select item 459674	NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)	COL5A1 (R1133Q)	Single nucleotide variant (missense variant)	COL5A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 213048	NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met)	COL5A1 (V1140M)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 264045	NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu)	COL5A1 (P1143L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 2571345	NM_000093.5(COL5A1):c.3452C>G (p.Pro1151Arg)	COL5A1 (P1151R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 459675	NM_000093.5(COL5A1):c.3465C>T (p.Asp1155=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 651106	NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val)	COL5A1 (I1188V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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
Select item 519657	NM_000093.5(COL5A1):c.3595G>C (p.Glu1199Gln)	COL5A1 (E1199Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 871326	NM_000093.5(COL5A1):c.3612C>T (p.Gly1204=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 136882	NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 3067711	NM_000093.5(COL5A1):c.4002C>T (p.Pro1334=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 136887	NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GBenign/Likely benign
Select item 810466	NM_000093.5(COL5A1):c.4085C>T (p.Pro1362Leu)	COL5A1 (P1362L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419573	NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)	COL5A1 (T1374M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 698519	NM_000093.5(COL5A1):c.4131C>T (p.Pro1377=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 136890	NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)	COL5A1 (P1379S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 459689	NM_000093.5(COL5A1):c.4158G>A (p.Ser1386=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 136892	NM_000093.5(COL5A1):c.4230+5C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +9 more	GBenign/Likely benign
Select item 702062	NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 2905829	NM_000093.5(COL5A1):c.4251C>T (p.Gly1417=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 439534	NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 136895	NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +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 +8 more	GBenign/Likely benign
Select item 1012635	NM_000093.5(COL5A1):c.4474G>T (p.Gly1492Cys)	COL5A1, LOC101448202 (G1492C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 547058	NM_000093.5(COL5A1):c.4555-8C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 871327	NM_000093.5(COL5A1):c.4638del (p.Ser1547fs)	COL5A1, LOC101448202 (S1547fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 212984	NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)	LOC101448202, COL5A1 (S1548L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 618034	NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=)	LOC101448202, COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 389823	NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 136902	NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)	LOC101448202, COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GBenign/Likely benign
Select item 136903	NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 760363	NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +3 more	GConflicting classifications of pathogenicity
Select item 459706	NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 212997	NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys)	COL5A1, LOC101448202 (N1699K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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