"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "COL4A3" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1678607	NM_000091.5(COL4A3):c.1759-11T>A	MFF-DT, COL4A3	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 3068591	NM_000091.5(COL4A3):c.1787G>T (p.Gly596Val)	COL4A3, MFF-DT (G596V)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 369964	NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	MFF-DT, COL4A3 (G695R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1676243	NM_000091.5(COL4A3):c.2648G>A (p.Gly883Glu)	COL4A3, MFF-DT (G883E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3068630	NM_000091.5(COL4A3):c.3337+7C>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Hematuria, benign familial, 1	GUncertain significance
Select item 1246467	NM_000091.5(COL4A3):c.3419-4del	COL4A3, MFF-DT	Deletion (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign

ClinVar