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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982739	NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln)	COL4A4 (R1377Q)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 191312	NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)	COL4A4 (V1327M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2691896	NM_000092.5(COL4A4):c.3389G>T (p.Gly1130Val)	COL4A4 (G1130V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 982735	NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)	COL4A4 (P721S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1342910	NM_000092.5(COL4A4):c.1099+5G>A	COL4A4	Single nucleotide variant (intron variant)	Benign familial hematuria	GUncertain significance
Select item 1712328	NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg)	COL4A4 (G332R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1285413	NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser)	COL4A4 (G252S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar