"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "MFF-DT"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447164	NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu)	COL4A3, MFF-DT (P376L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 495548	NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)	COL4A3, MFF-DT (R406*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 266007	NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg)	COL4A3, MFF-DT (G637R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 562450	NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)	COL4A3, MFF-DT (G988R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 2416698	NM_000091.5(COL4A3):c.3949G>A (p.Val1317Met)	COL4A3, MFF-DT (V1317M)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +1 more	GUncertain significance
Select item 550302	NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)	COL4A3, MFF-DT (R1450fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 2585321	NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln)	COL4A3, MFF-DT (R1516Q)	Single nucleotide variant (missense variant)	Benign familial hematuria +1 more	GUncertain significance

ClinVar