C4746986[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585333	NM_033380.3(COL4A5):c.107C>A (p.Ser36Ter)	COL4A5 (S36*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 623126	NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg)	COL4A5 (G494R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2671633	NM_033380.3(COL4A5):c.2396-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2627505	NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp)	COL4A5 (G893D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2585041	NM_033380.3(COL4A5):c.2980G>A (p.Gly994Arg)	COL4A5 (G994R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24633	NM_033380.3(COL4A5):c.3455-9A>G	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1350803	NM_033380.3(COL4A5):c.3850G>T (p.Gly1284Ter)	COL4A5 (G1284* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1339094	NM_033380.3(COL4A5):c.4788G>A (p.Trp1596Ter)	COL4A5 (W1590* +1 more)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GLikely pathogenic

ClinVar