"MVZ Medizinische Genetik Mainz"[submitter] AND "PAX2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066355	NM_000278.5(PAX2):c.43+934G>C	PAX2	Single nucleotide variant (3 prime UTR variant +1 more)	Renal coloboma syndrome	GUncertain significance
Select item 3236379	NM_000278.5(PAX2):c.157G>A (p.Asp53Asn)	PAX2 (D53N +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GUncertain significance
Select item 3236065	NM_000278.5(PAX2):c.254G>A (p.Gly85Asp)	PAX2 (G116D +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome	GPathogenic
Select item 3236769	NM_000278.5(PAX2):c.311_317dup (p.Asn106fs)	PAX2 (N106fs +1 more)	Duplication (frameshift variant)	Renal coloboma syndrome	GLikely pathogenic
Select item 3235236	NM_000278.5(PAX2):c.393C>G (p.Ser131Arg)	PAX2 (S131R +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GUncertain significance
Select item 3236800	NM_000278.5(PAX2):c.616+5649A>C	LOC110120845, PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7	GUncertain significance
Select item 3236805	NM_000278.5(PAX2):c.688G>A (p.Ala230Thr)	PAX2 (A230T +2 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome	GUncertain significance
Select item 3342280	NM_000278.5(PAX2):c.959dup (p.His321fs)	PAX2 (H321fs +2 more)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis 7	GLikely pathogenic

ClinVar