"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 473321	NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)	TMEM231	Inversion (missense variant +1 more)	Joubert syndrome 20 +3 more	GConflicting classifications of pathogenicity
Select item 212404	NM_001077418.3(TMEM231):c.891G>A (p.Val297=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +2 more	GConflicting classifications of pathogenicity
Select item 130591	NM_001077418.3(TMEM231):c.813G>A (p.Val271=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +2 more	GBenign
Select item 437009	NM_001077418.3(TMEM231):c.664+4A>G	TMEM231	Single nucleotide variant (intron variant)	Meckel syndrome, type 11 +3 more	GConflicting classifications of pathogenicity
Select item 130590	NM_001077418.3(TMEM231):c.582+8C>G	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +2 more	GBenign
Select item 130589	NM_001077418.3(TMEM231):c.582+3A>G	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +2 more	GBenign
Select item 385987	NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +2 more	GBenign
Select item 437010	NM_001077418.3(TMEM231):c.438+1G>A	TMEM231	Single nucleotide variant (splice donor variant)	Joubert syndrome 20 +1 more	GPathogenic
Select item 130588	NM_001077418.3(TMEM231):c.177G>C (p.Pro59=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +2 more	GBenign
Select item 257329	NM_001077418.3(TMEM231):c.140-28C>G	LOC130059440, TMEM231 (R91G)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 130587	NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)	TMEM231 (S26R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +2 more	GBenign