"Illumina Laboratory Services, Illumina"[submitter] AND "COL4A5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1698603	NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu)	COL4A5 (P277L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2627907	NM_033380.3(COL4A5):c.3053G>T (p.Gly1018Val)	COL4A5 (G1018V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24591	NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)	COL4A5 (G1030S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1328107	GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2	ACSL4, ALG13 +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic

ClinVar