"GenomeConnect, ClinGen"[submitter] AND "COL5A1"[gene] - ClinVar - NCBI

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Items: 13

	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)	Fibromuscular dysplasia, multifocal +8 more	GBenign/Likely benign
Select item 972989	NM_000093.5(COL5A1):c.695C>T (p.Ala232Val)	COL5A1 (A232V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type	Gnot provided
Select item 365707	NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr)	COL5A1 (A247T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +3 more	GConflicting classifications of pathogenicity
Select item 698030	NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +2 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, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 212937	NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)	COL5A1 (A546V)	Single nucleotide variant (missense variant)	COL5A1-related condition +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)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 213040	NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met)	COL5A1 (T699M)	Single nucleotide variant (missense variant)	COL5A1-related condition +7 more	GLikely benign
Select item 213047	NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met)	COL5A1 (T1008M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +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)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 459696	NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His)	COL5A1, LOC101448202 (R1503H)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 237005	NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)	COL5A1, LOC101448202 (D1648G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 426981	NM_000093.5(COL5A1):c.5136+73G>A	COL5A1, LOC101448202 (A1693T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign