C4746745[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 422936	NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup)	COL4A4	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 441259	NM_000092.5(COL4A4):c.2638_2639del (p.Ala880fs)	COL4A4 (A880fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 975092	NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)	COL4A4 (G771E)	Single nucleotide variant (missense variant)	Benign familial hematuria +2 more	GConflicting classifications of pathogenicity
Select item 427770	NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu)	COL4A3, MFF-DT (G392E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1678539	NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)	COL4A3, MFF-DT (G470E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 992636	NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter)	COL4A3, MFF-DT (E1407*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic

ClinVar