"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "COL4A5" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068625	NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp)	COL4A5 (G120D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24455	NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	COL4A5 (G624D)	Single nucleotide variant (missense variant)	COL4A5-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 3068585	NM_033380.3(COL4A5):c.2678-1G>T	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1420010	NM_033380.3(COL4A5):c.4508G>C (p.Arg1503Thr)	COL4A5 (R1497T +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GUncertain significance
Select item 3068581	NM_033380.3(COL4A5):c.4581C>G (p.Cys1527Trp)	COL4A5 (C1521W +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1678593	NM_033380.3(COL4A5):c.4745T>C (p.Val1582Ala)	COL4A5 (V1576A +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance

ClinVar