C3553264[trait identifier] AND "Prenatal Diagnosis Center, The Sixth M - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982303	NM_001384732.1(CPLANE1):c.7691-107_7691-105del	CPLANE1	Deletion (intron variant)	Joubert syndrome 17	GPathogenic
Select item 984909	NM_001384732.1(CPLANE1):c.1383_1384dup (p.Gly462fs)	CPLANE1 (G462fs)	Duplication (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 982368	NM_001384732.1(CPLANE1):c.1371+86_1371+87insTC	CPLANE1	Insertion (intron variant)	Joubert syndrome 17	GPathogenic

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