C2750737[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973534	NM_002354.3(EPCAM):c.13C>T (p.Gln5Ter)	EPCAM (Q5*)	Single nucleotide variant (nonsense)	Congenital diarrhea 5 with tufting enteropathy +1 more	GPathogenic/Likely pathogenic
Select item 973535	NM_002354.3(EPCAM):c.439G>T (p.Glu147Ter)	EPCAM (E147*)	Single nucleotide variant (nonsense)	Congenital diarrhea 5 with tufting enteropathy	GLikely pathogenic