"Revvity Omics, Revvity"[submitter] AND "TMEM231"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2437110	NM_001077418.3(TMEM231):c.878A>C (p.Gln293Pro)	TMEM231 (Q293P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1323693	NM_001077418.3(TMEM231):c.668_669del (p.Thr223fs)	TMEM231 (T223fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 437009	NM_001077418.3(TMEM231):c.664+4A>G	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome and related disorders +3 more	GConflicting classifications of pathogenicity
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 1417661	NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser)	TMEM231 (P164S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1647255	NM_001077418.3(TMEM231):c.399C>T (p.Leu133=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar