"GeneReviews"[submitter] AND "CPLANE1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217571	NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)	CPLANE1 (R2904* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 31224	NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)	CPLANE1 (A2684T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 31223	NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)	CPLANE1 (R2493*)	Single nucleotide variant (nonsense)	Joubert syndrome 17 +2 more	GPathogenic
Select item 31220	NM_001384732.1(CPLANE1):c.7400+1G>A	CPLANE1	Single nucleotide variant (splice donor variant)	Joubert syndrome 17 +2 more	GPathogenic
Select item 31221	NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs)	CPLANE1 (P2136fs)	Deletion (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 1202647	NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs)	CPLANE1 (I2119fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 31222	NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)	CPLANE1 (R1602*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 31219	NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)	CPLANE1 (R1336W)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +3 more	GPathogenic/Likely pathogenic

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