"Blueprint Genetics"[submitter] AND "COL5A1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636906	NM_000093.5(COL5A1):c.409G>T (p.Val137Phe)	COL5A1 (V137F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 180298	NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)	COL5A1 (V172F)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 636962	NM_000093.5(COL5A1):c.1222A>G (p.Thr408Ala)	COL5A1 (T408A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636524	NM_000093.5(COL5A1):c.2044G>A (p.Gly682Ser)	COL5A1 (G682S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636356	NM_000093.5(COL5A1):c.2524C>A (p.Pro842Thr)	COL5A1 (P842T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 636513	NM_000093.5(COL5A1):c.3055C>T (p.Pro1019Ser)	COL5A1 (P1019S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636763	NM_000093.5(COL5A1):c.3254C>T (p.Pro1085Leu)	COL5A1 (P1085L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547284	NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)	COL5A1 (E1199K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 212965	NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln)	COL5A1 (R1257Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 513692	NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 222524	NM_000093.5(COL5A1):c.4126T>C (p.Ser1376Pro)	COL5A1 (S1376P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 636332	NM_000093.5(COL5A1):c.4319G>A (p.Arg1440Gln)	COL5A1 (R1440Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 222525	NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys)	COL5A1, LOC101448202 (R1637C)	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 222526	NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln)	COL5A1, LOC101448202 (H1739Q)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 180300	NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)	COL5A1, LOC101448202 (A1784T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GConflicting classifications of pathogenicity