"Mendelics"[submitter] AND "TMEM231"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 803273	NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser)	TMEM231 (A135S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
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