C1969053[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 219985	NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)	PKD2 (M800L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 635022	NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)	RPGRIP1L (W1118* +3 more)	Single nucleotide variant (nonsense)	Joubert syndrome 7	GLikely pathogenic
Select item 2412744	NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)	RPGRIP1L (Q147*)	Single nucleotide variant (nonsense)	Joubert syndrome 7	GLikely pathogenic

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