ClinVar for MedGen (Select 382215) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066043	NM_153240.5(NPHP3):c.2712_2719dup (p.Tyr907delinsCysTer)	NPHP3, NPHP3-ACAD11	Microsatellite (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia	GLikely pathogenic
Select item 3063597	NM_153240.5(NPHP3):c.695G>A (p.Trp232Ter)	NPHP3, NPHP3-ACAD11 (W232*)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia	GPathogenic