"Foundation for Research in Genetics and Endocrinology, FRIGE's Instit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599250	NG_012059.2:g.1_302925del	ATG4A, COL4A5 +2 more	Deletion	X-linked Alport syndrome	GLikely pathogenic
Select item 599236	NG_011977.1:g.1_264622del	COL4A5, COL4A6 +1 more	Deletion	X-linked Alport syndrome	GLikely pathogenic
Select item 1803724	NM_033380.3(COL4A5):c.989A>G (p.Lys330Arg)	COL4A5 (K330R)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 587182	NM_033380.3(COL4A5):c.2918-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 430899	NM_033380.3(COL4A5):c.3978del (p.Gly1327fs)	COL4A5 (G1327fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 984065	NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter)	COL4A5 (K1335* +1 more)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GLikely pathogenic

ClinVar