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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPCAM
(I170del)
Deletion
(inframe_deletion)
Congenital diarrhea 5 with tufting enteropathy
GUncertain significance
EPCAM
(C27G)
Single nucleotide variant
(missense variant)
Congenital diarrhea 5 with tufting enteropathy
GUncertain significance
EPCAM
(E147*)
Single nucleotide variant
(nonsense)
Congenital diarrhea 5 with tufting enteropathy
GLikely pathogenic
EPCAM
(Q5*)
Single nucleotide variant
(nonsense)
Congenital diarrhea 5 with tufting enteropathy
+1 more
GPathogenic/Likely pathogenic
EPCAM
Single nucleotide variant
Congenital diarrhea 5 with tufting enteropathy
GBenign
EPCAM
Duplication
Congenital diarrhea 5 with tufting enteropathy
GBenign
EPCAM
Duplication
Congenital diarrhea 5 with tufting enteropathy
GBenign
EPCAM
Duplication
Congenital diarrhea 5 with tufting enteropathy
GBenign
EPCAM
Microsatellite
Congenital diarrhea 5 with tufting enteropathy
GBenign
EPCAM
Single nucleotide variant
(splice acceptor variant)
Congenital diarrhea 5 with tufting enteropathy
GUncertain significance
EPCAM
Single nucleotide variant
(intron variant)
Congenital diarrhea 5 with tufting enteropathy
GBenign
EPCAM
(L13P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
EPCAM
(Q89*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
EPCAM
(P4L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
EPCAM
(R125fs)
Insertion
(frameshift variant)
Congenital diarrhea 5 with tufting enteropathy
GPathogenic
EPCAM
Single nucleotide variant
Congenital diarrhea 5 with tufting enteropathy
GLikely benign
EPCAM
(D206N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
EPCAM
(W143*)
Single nucleotide variant
(nonsense)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GPathogenic
EPCAM
(S60L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
EPCAM
Single nucleotide variant
(splice donor variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GPathogenic
EPCAM
(M115T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign
EPCAM
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
EPCAM
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EPCAM
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
EPCAM
(I193V)
Single nucleotide variant
(missense variant)
Congenital diarrhea 5 with tufting enteropathy
+3 more
GUncertain significance
EPCAM
(T192S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
EPCAM
(P156S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Congenital diarrhea 5 with tufting enteropathy
+3 more
GLikely benign
EPCAM
(L78V)
Single nucleotide variant
(missense variant)
Congenital diarrhea 5 with tufting enteropathy
+2 more
GUncertain significance
EPCAM
(R138*)
Single nucleotide variant
(nonsense)
Congenital diarrhea 5 with tufting enteropathy
+1 more
GPathogenic
EPCAM
(Q167fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
EPCAM
(C66Y)
Single nucleotide variant
(missense variant)
Congenital diarrhea 5 with tufting enteropathy
GPathogenic
EPCAM
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
EPCAM
Single nucleotide variant
(splice donor variant)
Congenital diarrhea 5 with tufting enteropathy
+1 more
GPathogenic
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