C1842577[trait identifier] AND "Women's Health and Genetics/Laboratory - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217706	NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)	TMEM216	Single nucleotide variant (synonymous variant)	Joubert syndrome 2 +2 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)	TMEM216-related condition +6 more	GPathogenic
Select item 56384	NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	TMEM216 (R24* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 2 +5 more	GPathogenic/Likely pathogenic
Select item 126296	NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)	TMEM216	Single nucleotide variant (synonymous variant)	Joubert syndrome 2 +4 more	GBenign
Select item 305079	NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)	TMEM216 (R115H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 217704	NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	TMEM216 (L133* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 126297	NM_001173990.3(TMEM216):c.432-1G>C	TMEM216 (R147T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 2 +5 more	GBenign

ClinVar