"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712364	NM_145174.2(DNAJB7):c.164dup (p.Leu56fs)	XPNPEP3, DNAJB7 (L56fs)	Duplication (frameshift variant +2 more)	Kidney disorder	GBenign
Select item 1712367	NM_022098.4(XPNPEP3):c.823G>T (p.Ala275Ser)	XPNPEP3 (A275S)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712469	NM_022098.4(XPNPEP3):c.854A>G (p.Lys285Arg)	XPNPEP3 (K285R)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712472	NM_022098.4(XPNPEP3):c.926G>T (p.Arg309Leu)	XPNPEP3 (R309L)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712468	NM_022098.4(XPNPEP3):c.926G>A (p.Arg309Gln)	XPNPEP3 (R309Q)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1 +1 more	GUncertain significance
Select item 696213	NM_022098.4(XPNPEP3):c.1056-9C>T	XPNPEP3	Single nucleotide variant (intron variant)	XPNPEP3-related disorder +2 more	GConflicting classifications of pathogenicity

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