"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931485	NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)	COL4A3, MFF-DT (G236R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 266006	NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 931180	NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)	COL4A3, MFF-DT (G280R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 551440	NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)	MFF-DT, COL4A3 (G452R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 523323	NM_000091.5(COL4A3):c.2746+17C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Hematuria +1 more	GConflicting classifications of pathogenicity
Select item 438655	NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)	COL4A3, MFF-DT	Duplication (inframe_insertion)	Autosomal dominant Alport syndrome +5 more	GPathogenic/Likely pathogenic
Select item 931456	NM_000091.5(COL4A3):c.3672del (p.Pro1226fs)	COL4A3, MFF-DT (P1226fs)	Deletion (frameshift variant)	Autosomal dominant Alport syndrome	GLikely pathogenic

ClinVar