C3553264[trait identifier] AND "Neurology Department of Pediatrics, Th - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217566	NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)	CPLANE1 (R2660* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2429463	NM_001384732.1(CPLANE1):c.7243dup (p.Thr2415fs)	CPLANE1 (T2415fs)	Duplication (frameshift variant)	CPLANE1-related disorder	GPathogenic
Select item 2429465	NM_001384732.1(CPLANE1):c.4189+1G>A	CPLANE1	Single nucleotide variant (splice donor variant)	Joubert syndrome 17	GUncertain significance
Select item 2429734	NM_001384732.1(CPLANE1):c.4080G>A (p.Lys1360=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17	GUncertain significance
Select item 2429462	NM_001384732.1(CPLANE1):c.3733T>C (p.Cys1245Arg)	CPLANE1 (C1245R)	Single nucleotide variant (missense variant)	Joubert syndrome 17	GUncertain significance
Select item 2429464	NM_001384732.1(CPLANE1):c.3101T>C (p.Ile1034Thr)	CPLANE1 (I1034T)	Single nucleotide variant (missense variant)	Joubert syndrome 17	GUncertain significance

ClinVar