C4225429[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547883	NM_000393.5(COL5A2):c.1681G>A (p.Gly561Arg)	COL5A2 (G561R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type	GUncertain significance
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 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 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 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 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 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 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 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