C3836857[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126288	NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)	TCTN2 (R200Q +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +5 more	GConflicting classifications of pathogenicity
Select item 198262	NM_024809.5(TCTN2):c.615C>T (p.Gly205=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +5 more	GConflicting classifications of pathogenicity
Select item 126294	NM_024809.5(TCTN2):c.891+7G>A	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +4 more	GBenign
Select item 126282	NM_024809.5(TCTN2):c.1099+19T>C	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GBenign
Select item 126283	NM_024809.5(TCTN2):c.1128T>C (p.Pro376=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +4 more	GBenign
Select item 126285	NM_024809.5(TCTN2):c.1393+7C>T	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +4 more	GBenign

ClinVar