C2750475[trait identifier] AND "MVZ Medizinische Genetik Mainz"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338376	NM_022489.4(INF2):c.13G>A (p.Glu5Lys)	INF2 (E5K)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 5	GUncertain significance
Select item 3236024	NM_022489.4(INF2):c.137C>G (p.Ser46Cys)	INF2 (S46C)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5	GLikely pathogenic
Select item 3066115	NM_022489.4(INF2):c.210_224del (p.Glu70_Leu74del)	INF2	Deletion (inframe deletion +1 more)	Focal segmental glomerulosclerosis 5	GUncertain significance
Select item 3066232	NM_022489.4(INF2):c.315_323del (p.Arg106_Val108del)	INF2	Deletion (inframe deletion +1 more)	Focal segmental glomerulosclerosis 5	GLikely pathogenic
Select item 3068338	NM_022489.4(INF2):c.578A>G (p.Tyr193Cys)	INF2 (Y193C)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5	GLikely pathogenic
Select item 3066336	NM_022489.4(INF2):c.640C>G (p.Arg214Gly)	INF2 (R214G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5	GLikely pathogenic

ClinVar