"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TMEM216"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371740	NM_001173990.3(TMEM216):c.34+2T>C	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 2 +2 more	GLikely pathogenic
Select item 289981	NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)	TMEM216 (V47A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197	NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	TMEM216 (R73L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 2 +5 more	GPathogenic
Select item 961772	NM_001173990.3(TMEM216):c.230-2A>G	TMEM216	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +2 more	GLikely pathogenic
Select item 56384	NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	TMEM216 (R24* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 217704	NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	TMEM216 (L133* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic

ClinVar