"Genetic Services Laboratory, University of Chicago"[submitter] AND "T - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160096	NM_001082538.3(TCTN1):c.220+12G>C	LOC130008755, TCTN1 (M1I)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 13 +4 more	GBenign/Likely benign
Select item 160097	NM_001082538.3(TCTN1):c.341+46G>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 160098	NM_001082538.3(TCTN1):c.473-10T>A	TCTN1	Single nucleotide variant (intron variant)	Joubert syndrome 13 +3 more	GBenign
Select item 212385	NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)	TCTN1 (N235del +3 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 212386	NM_001082538.3(TCTN1):c.843+1del	TCTN1	Deletion (splice donor variant)	Joubert syndrome 13	GPathogenic
Select item 160099	NM_001082538.3(TCTN1):c.894C>T (p.Leu298=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 13 +3 more	GBenign
Select item 160100	NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr)	TCTN1 (A300T +4 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 93533	NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)	TCTN1 (I398V +3 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 160094	NM_001082538.3(TCTN1):c.1332-35G>C	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 160095	NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys)	TCTN1 (G452C +5 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 13 +3 more	GBenign
Select item 194193	NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	TCTN1-related disorder +3 more	GConflicting classifications of pathogenicity