"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "COL5A1"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1163513	NM_000093.5(COL5A1):c.62C>T (p.Pro21Leu)	COL5A1 (P21L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683086	NM_000093.5(COL5A1):c.64C>G (p.Pro22Ala)	COL5A1 (P22A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213004	NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser)	COL5A1 (N50S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1026621	NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser)	COL5A1 (G124S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 547276	NM_000093.5(COL5A1):c.401G>A (p.Arg134His)	COL5A1 (R134H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 519626	NM_000093.5(COL5A1):c.655-1G>C	COL5A1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 212920	NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro)	COL5A1 (T264P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 212921	NM_000093.5(COL5A1):c.804C>T (p.Gly268=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 2683087	NM_000093.5(COL5A1):c.859G>A (p.Gly287Arg)	COL5A1 (G287R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 698030	NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1365610	NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr)	COL5A1 (A381T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
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 459653	NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1])	COL5A1	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 529257	NM_000093.5(COL5A1):c.1295C>T (p.Pro432Leu)	COL5A1 (P432L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 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 provided +3 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 212941	NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser)	COL5A1 (P576S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 212946	NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser)	COL5A1 (P680S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 213041	NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser)	COL5A1 (P761S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
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 3379935	NM_000093.5(COL5A1):c.2329C>A (p.Gln777Lys)	COL5A1 (Q777K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381060	NM_000093.5(COL5A1):c.2347C>T (p.Gln783Ter)	COL5A1 (Q783*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 392809	NM_000093.5(COL5A1):c.2424C>T (p.Gly808=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3379936	NM_000093.5(COL5A1):c.2446C>G (p.Pro816Ala)	COL5A1 (P816A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320415	NM_000093.5(COL5A1):c.2501C>T (p.Pro834Leu)	COL5A1 (P834L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1694015	NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser)	COL5A1 (P969S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1694016	NM_000093.5(COL5A1):c.2923C>G (p.Pro975Ala)	COL5A1 (P975A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424292	NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr)	COL5A1 (P995T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 947978	NM_000093.5(COL5A1):c.2992G>A (p.Val998Met)	COL5A1 (V998M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 213047	NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met)	COL5A1 (T1008M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2683088	NM_000093.5(COL5A1):c.3167G>T (p.Arg1056Leu)	COL5A1 (R1056L)	Single nucleotide variant (missense variant)	not provided	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 1163515	NM_000093.5(COL5A1):c.3311C>G (p.Pro1104Arg)	COL5A1 (P1104R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 572790	NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu)	COL5A1 (P1164L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 2683662	NM_000093.5(COL5A1):c.3526C>T (p.Gln1176Ter)	COL5A1 (Q1176*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2683089	NM_000093.5(COL5A1):c.3741G>T (p.Gln1247His)	COL5A1 (Q1247H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 459682	NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)	COL5A1 (P1271L)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +4 more	GConflicting classifications of pathogenicity
Select item 547285	NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)	COL5A1 (D1331N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 409122	NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 2683663	NM_000093.5(COL5A1):c.4065del (p.Ala1356fs)	COL5A1 (A1356fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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
Select item 848768	NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala)	COL5A1 (P1371A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1163909	NM_000093.5(COL5A1):c.4184CAGGCCCCG[3] (p.Ala1398_Pro1400dup)	COL5A1	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 566526	NM_000093.5(COL5A1):c.4238C>A (p.Ala1413Asp)	COL5A1 (A1413D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 459697	NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)	COL5A1, LOC101448202 (P1536L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 2683090	NM_000093.5(COL5A1):c.4651A>G (p.Thr1551Ala)	COL5A1, LOC101448202 (T1551A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212986	NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)	COL5A1, LOC101448202 (P1553L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 212987	NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu)	COL5A1, LOC101448202 (P1566L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 220985	NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)	COL5A1, LOC101448202 (I1573V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1163910	NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln)	COL5A1, LOC101448202 (R1584Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 212988	NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp)	COL5A1, LOC101448202 (R1585W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2683664	NM_000093.5(COL5A1):c.4820del (p.Gly1607fs)	COL5A1, LOC101448202 (G1607fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 213062	NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)	COL5A1, LOC101448202 (A1636T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 180299	NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg)	COL5A1, LOC101448202 (Q1643R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1381159	NM_000093.5(COL5A1):c.5026G>A (p.Gly1676Arg)	COL5A1, LOC101448202 (G1676R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 213064	NM_000093.5(COL5A1):c.5060C>A (p.Ser1687Tyr)	LOC101448202, COL5A1 (S1687Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1694017	NM_000093.5(COL5A1):c.5167G>C (p.Val1723Leu)	COL5A1, LOC101448202 (V1723L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843180	NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)	COL5A1, LOC101448202 (R1732W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523327	NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)	COL5A1, LOC101448202 (E1772K)	Single nucleotide variant (missense variant)	Abnormality of the lower limb +7 more	GUncertain significance
Select item 1163911	NM_000093.5(COL5A1):c.5362G>A (p.Gly1788Ser)	COL5A1, LOC101448202 (G1788S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 459713	NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met)	COL5A1, LOC101448202 (V1813M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity

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Items: 66