C4552078[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585631	NM_001205254.2(OCLN):c.175A>C (p.Thr59Pro)	OCLN (T59P)	Single nucleotide variant (missense variant +1 more)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 2585630	NM_001205254.2(OCLN):c.1216G>A (p.Gly406Ser)	OCLN (G352S +2 more)	Single nucleotide variant (missense variant)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 2664921	NM_001205254.2(OCLN):c.1254-1G>A	OCLN	Single nucleotide variant (splice acceptor variant)	Pseudo-TORCH syndrome 1	GLikely pathogenic

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