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Links from MedGen

Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDH1
(W156G)
Single nucleotide variant
(missense variant +1 more)
Blepharocheilodontic syndrome 1
GUncertain significance
CDH1
(N369K)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
+2 more
GUncertain significance
CDH1
Single nucleotide variant
(5 prime UTR variant +2 more)
Blepharocheilodontic syndrome 1
GUncertain significance
CDH1
(D288H)
Single nucleotide variant
(missense variant +1 more)
Blepharocheilodontic syndrome 1
GUncertain significance
CDH1
(N397del +1 more)
Deletion
(inframe_deletion +1 more)
Blepharocheilodontic syndrome 1
GLikely pathogenic
CDH1
(D437N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GUncertain significance
CDH1
Single nucleotide variant
(intron variant)
Familial cancer of breast
+4 more
GBenign
CDH1
(D400N)
Single nucleotide variant
(5 prime UTR variant +2 more)
Blepharocheilodontic syndrome 1
+1 more
GConflicting classifications of pathogenicity
CDH1
(P260L)
Single nucleotide variant
(missense variant +1 more)
Blepharocheilodontic syndrome 1
GUncertain significance
CDH1
(I481M +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary diffuse gastric adenocarcinoma
+2 more
GUncertain significance
CDH1
(T211A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+7 more
GUncertain significance
CDH1
(L581F +2 more)
Single nucleotide variant
(missense variant +1 more)
Blepharocheilodontic syndrome 1
+6 more
GUncertain significance
CDH1
(G382fs)
Deletion
(5 prime UTR variant +2 more)
Hereditary diffuse gastric adenocarcinoma
+7 more
GPathogenic/Likely pathogenic
CDH1
(H128fs)
Deletion
(frameshift variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(P339A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CDH1
(I615V +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary diffuse gastric adenocarcinoma
+7 more
GUncertain significance
CDH1
(R868S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CDH1
(S649F +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
CDH1
(D676E +3 more)
Single nucleotide variant
(missense variant)
Hereditary diffuse gastric adenocarcinoma
GUncertain significance
CDH1
(D254Y)
Single nucleotide variant
(missense variant +1 more)
Blepharocheilodontic syndrome 1
GPathogenic
CDH1
(K440N)
Single nucleotide variant
(5 prime UTR variant +2 more)
Blepharocheilodontic syndrome 1
GPathogenic
CDH1
(Y68D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
CDH1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+8 more
GBenign/Likely benign
CDH1
Single nucleotide variant
(splice donor variant +2 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GLikely pathogenic
CDH1
(L391fs +1 more)
Deletion
(frameshift variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(D812G +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GUncertain significance
CDH1
(R74*)
Single nucleotide variant
(nonsense +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(E864K +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GUncertain significance
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
(W865C +3 more)
Single nucleotide variant
(missense variant)
Hereditary diffuse gastric adenocarcinoma
+7 more
GUncertain significance
CDH1
(L791F +3 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
CDH1
(N417S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Hereditary diffuse gastric adenocarcinoma
+8 more
GConflicting classifications of pathogenicity
CDH1
(V391I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+7 more
GConflicting classifications of pathogenicity
CDH1
(P126L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
CDH1
(A592S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary diffuse gastric adenocarcinoma
+8 more
GUncertain significance
CDH1
Single nucleotide variant
(synonymous variant +1 more)
Malignant tumor of prostate
+10 more
GConflicting classifications of pathogenicity
CDH1
Deletion
(intron variant)
Familial cancer of breast
+6 more
GBenign/Likely benign
CDH1
(Q383*)
Single nucleotide variant
(5 prime UTR variant +2 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
Single nucleotide variant
(synonymous variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
(V412I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
CDH1
(R800C +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+7 more
GUncertain significance
CDH1
(P825L +3 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
CDH1
Microsatellite
(nonsense)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
Single nucleotide variant
(intron variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary diffuse gastric adenocarcinoma
+8 more
GBenign/Likely benign
CDH1
(R335*)
Single nucleotide variant
(nonsense +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(W409R)
Single nucleotide variant
(5 prime UTR variant +2 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GLikely benign
CDH1
(T457M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GConflicting classifications of pathogenicity
CDH1
(G239R)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(P30T)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
(R224C)
Single nucleotide variant
(5 prime UTR variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GLikely benign
CDH1
(T790I +3 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
CDH1
(T470I +1 more)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
(A592T +2 more)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
(S838G +3 more)
Single nucleotide variant
(missense variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GLikely benign
CDH1
(A617T +2 more)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
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