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Items: 1 to 100 of 745

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933242, LOC129933243
+1631 more
Copy number gain
See cases
GPathogenic
LOC129934199, LOC129934200
+2457 more
Copy number gain
See cases
GBenign
ABCG5, ABCG8
+443 more
Copy number gain
See cases
GPathogenic
LOC129933677, LOC129933678
+104 more
Copy number gain
See cases
GUncertain significance
BCYRN1, CALM2
+53 more
Copy number gain
See cases
GLikely benign
BCYRN1, CALM2
+94 more
Copy number loss
See cases
GPathogenic
BCYRN1, CALM2
+60 more
Copy number gain
See cases
GLikely pathogenic
EPCAM, STPG4
Duplication
Lynch syndrome
GLikely benign
BCYRN1, EPCAM
+21 more
Copy number gain
See cases
GUncertain significance
EPCAM
Single nucleotide variant
not provided
GBenign
EPCAM
Single nucleotide variant
not provided
GLikely benign
EPCAM
Duplication
Lynch syndrome
GUncertain significance
EPCAM
Duplication
Lynch syndrome
GUncertain significance
EPCAM, MIR559
Duplication
Lynch syndrome
GUncertain significance
EPCAM, MIR559
Deletion
Lynch syndrome
GPathogenic
EPCAM
Single nucleotide variant
not provided
GLikely benign
EPCAM
Single nucleotide variant
(5 prime UTR variant)
Lynch syndrome
GUncertain significance
EPCAM
Single nucleotide variant
not provided
GLikely benign
EPCAM
Single nucleotide variant
(5 prime UTR variant)
Lynch syndrome
GUncertain significance
EPCAM
Deletion
(5 prime UTR variant)
not provided
GBenign
EPCAM, LOC129933695
+2 more
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, LOC129933695
+2 more
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, LOC129933695
+2 more
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, MIR559
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, KCNK12
+19 more
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
EPCAM, LOC129933695
+2 more
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, MIR559
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
EPCAM, LOC129933695
+2 more
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, LOC129933695
+2 more
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
EPCAM, LOC129933695
+2 more
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, MIR559
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
EPCAM
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, LOC129933695
+2 more
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, LOC129933695
+2 more
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
EPCAM, LOC129933695
+2 more
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
LOC129933695, MIR559
+2 more
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, MIR559
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, MIR559
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
EPCAM, LOC129933695
+2 more
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM, LOC129933695
+2 more
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
EPCAM
(M1fs)
Deletion
(frameshift variant +1 more)
Lynch syndrome 8
GUncertain significance
EPCAM
Single nucleotide variant
(5 prime UTR variant)
Lynch syndrome 8
Gnot provided
EPCAM, MIR559
Duplication
Lynch syndrome
GUncertain significance
EPCAM
(M1V)
Single nucleotide variant
(missense variant +1 more)
EPCAM-related condition
GLikely pathogenic
EPCAM
(M1I)
Single nucleotide variant
(missense variant +1 more)
Gastric cancer
GPathogenic
EPCAM
(A2V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
EPCAM
(P3T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
(P4fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
EPCAM
(P3S)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
EPCAM
(P4R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
(P4L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
(Q5*)
Single nucleotide variant
(nonsense)
Congenital diarrhea 5 with tufting enteropathy
+1 more
GPathogenic/Likely pathogenic
EPCAM
(V6I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
(L7V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
(L7H)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
EPCAM
(A8G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
(G10R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EPCAM
(G10R)
Single nucleotide variant
(missense variant)
Lynch syndrome
+1 more
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
(L12V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
(L12M)
Single nucleotide variant
(missense variant)
Lynch syndrome
+1 more
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
(A14fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
EPCAM
(L13P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
EPCAM
Deletion
(inframe_deletion)
not provided
+2 more
GUncertain significance
EPCAM
(A14V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
Microsatellite
(inframe_deletion)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
(A16G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
(T17R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
(T17M)
Single nucleotide variant
(missense variant)
Lynch syndrome 8
+3 more
GUncertain significance
EPCAM
(T17K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
Deletion
(inframe_deletion)
not provided
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
(A21V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GBenign/Likely benign
EPCAM
(A22S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
(A22T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
EPCAM
(A22V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
EPCAM
(A23T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EPCAM
(Q24P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
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