"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334754	NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)	COL4A3, MFF-DT (P74L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 562427	NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	COL4A3, MFF-DT (G300R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3370320	NM_000091.5(COL4A3):c.962G>C (p.Gly321Ala)	COL4A3, MFF-DT (G321A)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 897872	NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)	COL4A3, MFF-DT (P546L)	Single nucleotide variant (missense variant)	Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 729606	NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)	COL4A3, MFF-DT (P597L)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 371669	NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)	COL4A3, MFF-DT (G640R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 449540	NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	COL4A3, MFF-DT (L1474P)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity

ClinVar