"Baylor Genetics"[submitter] AND "TMEM231"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028505	NM_001077418.3(TMEM231):c.771-5_771-2delinsTGTC	TMEM231	Indel (splice acceptor variant)	Meckel syndrome, type 11	GUncertain significance
Select item 64619	NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)	TMEM231 (V275I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +2 more	GPathogenic/Likely pathogenic
Select item 1033247	NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro)	TMEM231 (L126P +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20	GUncertain significance
Select item 871667	NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)	TMEM231 (P125A +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome and related disorders +5 more	GConflicting classifications of pathogenicity
Select item 1028502	NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)	TMEM231 (W136* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome and related disorders +2 more	GPathogenic/Likely pathogenic
Select item 1028504	NM_001077418.3(TMEM231):c.140-33C>G	LOC130059440, TMEM231 (P89R)	Single nucleotide variant (intron variant +1 more)	Joubert syndrome 20	GUncertain significance

ClinVar