"MVZ Medizinische Genetik Mainz"[submitter] AND "LOC129992813"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248537	NM_000297.4(PKD2):c.210_211del (p.Ala71fs)	LOC129992813, PKD2 (A71fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3235148	NM_000297.4(PKD2):c.325G>T (p.Gly109Ter)	LOC129992813, PKD2 (G109*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3061900	NM_000297.4(PKD2):c.339_358dup (p.Pro120delinsArgTrpThrTer)	LOC129992813, PKD2	Duplication (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3235981	NM_000297.4(PKD2):c.354del (p.Trp118fs)	LOC129992813, PKD2 (W118fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3235194	NM_000297.4(PKD2):c.423_430dup (p.Tyr144fs)	LOC129992813, PKD2 (Y144fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3235228	NM_000297.4(PKD2):c.548del (p.Gln183fs)	LOC129992813, PKD2 (Q183fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3338385	NM_000297.4(PKD2):c.592C>T (p.Arg198Ter)	LOC129992813, PKD2 (R198*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic

ClinVar