C2750737[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801668	NM_002354.3(EPCAM):c.38T>C (p.Leu13Pro)	EPCAM (L13P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 801669	NM_002354.3(EPCAM):c.76+21G>C	EPCAM	Single nucleotide variant (intron variant)	Congenital diarrhea 5 with tufting enteropathy	GBenign
Select item 801670	NM_002354.3(EPCAM):c.658-1G>T	EPCAM	Single nucleotide variant (splice acceptor variant)	Congenital diarrhea 5 with tufting enteropathy	GUncertain significance
Select item 336422	NC_000002.12:g.47386975A>G	EPCAM	Single nucleotide variant	Congenital diarrhea 5 with tufting enteropathy	GLikely benign
Select item 801671	NC_000002.12:g.47387047CTT[2]	EPCAM	Microsatellite	Congenital diarrhea 5 with tufting enteropathy	GBenign
Select item 801675	NC_000002.12:g.47387064C>T	EPCAM	Single nucleotide variant	Congenital diarrhea 5 with tufting enteropathy	GBenign
Select item 801674	NC_000002.12:g.47387076_47387080dup	EPCAM	Duplication	Congenital diarrhea 5 with tufting enteropathy	GBenign
Select item 801673	NC_000002.12:g.47387079_47387080dup	EPCAM	Duplication	Congenital diarrhea 5 with tufting enteropathy	GBenign
Select item 801672	NC_000002.12:g.47387080dup	EPCAM	Duplication	Congenital diarrhea 5 with tufting enteropathy	GBenign

ClinVar