U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 4476

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059149, LOC130059150
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059330, LOC130059331
+599 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
LOC130059618, LOC130059619
+1429 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1426 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059185, LOC130059186
+869 more
Copy number gain
See cases
GPathogenic
CDH1, CDH3
+39 more
Copy number gain
See cases
GUncertain significance
AARS1, AP1G1
+263 more
Copy number loss
See cases
GPathogenic
CDH1, CDH3
Single nucleotide variant
(genic downstream transcript variant)
not provided
GBenign
CDH1
Single nucleotide variant
not provided
GBenign
CDH1
Single nucleotide variant
not provided
GBenign
CDH1
Deletion
not provided
+1 more
GConflicting classifications of pathogenicity
CDH1
Single nucleotide variant
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
Single nucleotide variant
not specified
GBenign
CDH1
Single nucleotide variant
not provided
GLikely benign
CDH1, LOC112486201
+24 more
Deletion
Hereditary diffuse gastric adenocarcinoma
GPathogenic
CDH1, LOC130059290
Deletion
Hereditary diffuse gastric adenocarcinoma
GPathogenic
CDH1, LOC130059290
Deletion
Hereditary diffuse gastric adenocarcinoma
GLikely pathogenic
LOC130059290, CDH1
Deletion
Hereditary diffuse gastric adenocarcinoma
GPathogenic
LOC130059296, LOC130059297
+24 more
Deletion
Hereditary diffuse gastric adenocarcinoma
GPathogenic
LOC112486201, LOC128772402
+24 more
Duplication
Hereditary diffuse gastric adenocarcinoma
GUncertain significance
CDH1
Single nucleotide variant
(5 prime UTR variant)
Malignant tumor of prostate
+1 more
GLikely benign
CDH1, LOC130059290
Microsatellite
(5 prime UTR variant)
not provided
GLikely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GUncertain significance
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
Hereditary diffuse gastric adenocarcinoma
GConflicting classifications of pathogenicity
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
Hereditary diffuse gastric adenocarcinoma
GLikely benign
LOC130059290, CDH1
Single nucleotide variant
(5 prime UTR variant)
Hereditary diffuse gastric adenocarcinoma
+1 more
GBenign/Likely benign
CDH1, LOC130059290
Microsatellite
(5 prime UTR variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GUncertain significance
LOC130059290, CDH1
Microsatellite
(5 prime UTR variant)
not specified
GLikely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GUncertain significance
LOC130059290, CDH1
Single nucleotide variant
(5 prime UTR variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GUncertain significance
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
Hereditary diffuse gastric adenocarcinoma
+1 more
GBenign/Likely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GUncertain significance
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
Hereditary diffuse gastric adenocarcinoma
+1 more
GUncertain significance
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LOC130059290, CDH1
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
LOC130059290, CDH1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LOC130059290, CDH1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LOC130059290, CDH1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
LOC130059290, CDH1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
CDH1-related condition
GLikely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1, LOC112486201
+24 more
Deletion
Hereditary diffuse gastric adenocarcinoma
GPathogenic
CDH1, LOC130059290
Duplication
Hereditary diffuse gastric adenocarcinoma
GUncertain significance
CDH1, LOC112486201
+24 more
Duplication
Hereditary diffuse gastric adenocarcinoma
GUncertain significance
CDH1, LOC130059290
Deletion
Hereditary diffuse gastric adenocarcinoma
GPathogenic
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
CDH1-related condition
GLikely benign
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GLikely benign
CDH1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CDH1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
CDH1
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CDH1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1
Duplication
Hereditary diffuse gastric adenocarcinoma
GUncertain significance
CDH1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDH1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
CDH1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1
(M1L)
Single nucleotide variant
(missense variant +2 more)
Hereditary diffuse gastric adenocarcinoma
GPathogenic
CDH1
(M1V)
Single nucleotide variant
(missense variant +2 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(M1K)
Single nucleotide variant
(missense variant +2 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(M1R)
Single nucleotide variant
(missense variant +2 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(M1T)
Single nucleotide variant
(missense variant +2 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(M1I)
Single nucleotide variant
(missense variant +2 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(G2R)
Single nucleotide variant
(missense variant +1 more)
Hereditary diffuse gastric adenocarcinoma
GUncertain significance
CDH1
(G2S)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GLikely benign
CDH1
(G2D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1
(G2V)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GUncertain significance
CDH1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
CDH1
(P3T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1
(P3S)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GUncertain significance
CDH1
(P3R)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GLikely benign
CDH1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
CDH1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary diffuse gastric adenocarcinoma
+1 more
GLikely benign
CDH1
(W4G)
Single nucleotide variant
(missense variant +1 more)
Hereditary diffuse gastric adenocarcinoma
GUncertain significance
CDH1
(W4L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1
(W4*)
Single nucleotide variant
(nonsense +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(W4C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CDH1
(W4*)
Single nucleotide variant
(nonsense +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(S5R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1
(S5G)
Single nucleotide variant
(missense variant +1 more)
Hereditary diffuse gastric adenocarcinoma
+1 more
GUncertain significance
CDH1
(S5fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
CDH1
(S5N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CDH1
(S5R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDH1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary diffuse gastric adenocarcinoma
+2 more
GLikely benign
CDH1
(R6S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination