C0268416[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 2628751	NM_002772.3(TMPRSS15):c.2486+1G>A	TMPRSS15	Single nucleotide variant (splice donor variant)	Enterokinase deficiency +2 more	GLikely pathogenic
Select item 1323696	NM_002772.3(TMPRSS15):c.1350dup (p.Val451fs)	TMPRSS15 (V451fs)	Duplication (frameshift variant)	Enterokinase deficiency	GPathogenic/Likely pathogenic