"AiLife Diagnostics, AiLife Diagnostics"[submitter] AND "LOC101448202" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 851542	NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His)	COL5A1, LOC101448202 (P1523H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1677946	NM_000093.5(COL5A1):c.4685C>G (p.Pro1562Arg)	COL5A1, LOC101448202 (P1562R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677883	NM_000093.5(COL5A1):c.4937A>G (p.His1646Arg)	COL5A1, LOC101448202 (H1646R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1018148	NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met)	COL5A1, LOC101448202 (T1798M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1677825	NM_000093.5(COL5A1):c.5492T>C (p.Val1831Ala)	COL5A1, LOC101448202 (V1831A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar