C3280031[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183312	NM_001082538.3(TCTN1):c.342-2A>G	TCTN1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 13	GPathogenic
Select item 265265	NM_001082538.3(TCTN1):c.978+1G>T	TCTN1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3061949	NM_001082538.3(TCTN1):c.1635+1G>A	TCTN1	Single nucleotide variant (splice donor variant)	Joubert syndrome 13	GLikely pathogenic

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