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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029457	NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)	OCLN (R36*)	Single nucleotide variant (nonsense +1 more)	Pseudo-TORCH syndrome 1	GPathogenic
Select item 2434484	NM_001205254.2(OCLN):c.215T>G (p.Ile72Ser)	OCLN (I72S)	Single nucleotide variant (missense variant +1 more)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 2434483	NM_001205254.2(OCLN):c.472A>G (p.Thr158Ala)	OCLN (T158A)	Single nucleotide variant (missense variant +1 more)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 1323383	NM_001205254.2(OCLN):c.513C>A (p.Tyr171Ter)	OCLN (Y171*)	Single nucleotide variant (nonsense +1 more)	Pseudo-TORCH syndrome 1	GPathogenic
Select item 2690659	NM_001205254.2(OCLN):c.630_645del (p.Gln211fs)	OCLN (Q211fs)	Deletion (frameshift variant +1 more)	Pseudo-TORCH syndrome 1	GLikely pathogenic
Select item 2434485	NM_001205254.2(OCLN):c.811A>G (p.Met271Val)	OCLN (M20V +1 more)	Single nucleotide variant (missense variant)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 2434486	NM_001205254.2(OCLN):c.944A>T (p.Tyr315Phe)	OCLN (Y261F +2 more)	Single nucleotide variant (missense variant)	Pseudo-TORCH syndrome 1	GUncertain significance

ClinVar