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Links from MedGen

Items: 1 to 100 of 700

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BARD1
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
GLikely pathogenic
MSH2
(M1K)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
MSH6
(E453* +8 more)
Single nucleotide variant
(nonsense)
Gastric cancer
GPathogenic
EPCAM
(S60*)
Single nucleotide variant
(nonsense)
Gastric cancer
GPathogenic
EPCAM
Single nucleotide variant
(splice acceptor variant)
Gastric cancer
GPathogenic
MUTYH, TOE1
Single nucleotide variant
(5 prime UTR variant +2 more)
Gastric cancer
GPathogenic
MUTYH
(Q23* +2 more)
Single nucleotide variant
(nonsense +2 more)
Gastric cancer
GPathogenic
MUTYH
(W103* +9 more)
Single nucleotide variant
(nonsense +2 more)
Familial adenomatous polyposis 2
GConflicting classifications of pathogenicity
EPCAM
(R125*)
Single nucleotide variant
(nonsense)
Gastric cancer
GPathogenic
MUTYH
(E226* +12 more)
Single nucleotide variant
(nonsense +1 more)
Gastric cancer
GPathogenic
MUTYH
(K366* +12 more)
Single nucleotide variant
(nonsense +1 more)
Gastric cancer
GPathogenic
MUTYH
(Q384* +12 more)
Single nucleotide variant
(nonsense +1 more)
Gastric cancer
GPathogenic
BRIP1
Single nucleotide variant
(splice acceptor variant)
Gastric cancer
GPathogenic
BRIP1
(G529*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GPathogenic
EPCAM
(M1I)
Single nucleotide variant
(missense variant +1 more)
Gastric cancer
GPathogenic
HOXB13
(K272*)
Single nucleotide variant
(nonsense)
Gastric cancer
GPathogenic
ATM
Indel
(nonsense)
Gastric cancer
GPathogenic
PMS2
(F95fs)
Indel
(frameshift variant +3 more)
Gastric cancer
GPathogenic
CHEK2
Deletion
(nonsense +1 more)
Gastric cancer
GPathogenic
CHEK2
(I209fs +3 more)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
CHEK2
Deletion
(splice donor variant)
Gastric cancer
GPathogenic
SMAD4
(S411fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRIP1
(T113fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRIP1
(R403fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRIP1
(P853fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
BRIP1
Deletion
(nonsense)
Gastric cancer
GPathogenic
RAD51C
Deletion
(splice donor variant)
Breast-ovarian cancer, familial, susceptibility to, 3
GLikely pathogenic
EPCAM
(M1V)
Single nucleotide variant
(missense variant +1 more)
EPCAM-related disorder
GLikely pathogenic
HOXB13
(A282fs)
Microsatellite
(frameshift variant)
Gastric cancer
GPathogenic
BRCA1
(N1034fs +20 more)
Deletion
(frameshift variant +1 more)
Gastric cancer
GPathogenic
RAD51D, RAD51L3-RFFL
(Q192fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Gastric cancer
GPathogenic
RAD51D, RAD51L3-RFFL
(G177fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Gastric cancer
GPathogenic
RAD51D, RAD51L3-RFFL
(G213fs +2 more)
Deletion
(frameshift variant +1 more)
Gastric cancer
GPathogenic
NF1
(D2012fs +1 more)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
NF1
(I1223fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
NF1
(R1142fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
PALB2
(K203fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
BRCA2
(Y2154fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRCA2
(H2021fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRCA2
(D1513fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRCA2
(K1191fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRCA2
(D1161fs)
Microsatellite
(frameshift variant)
Gastric cancer
GPathogenic
BRCA2
(D935fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRCA2
Deletion
(nonsense +1 more)
Gastric cancer
GPathogenic
BRCA2
(E790fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRCA2
(F590fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
C11orf65, ATM
Deletion
(nonsense +1 more)
Gastric cancer
GPathogenic
ATM
(Q1919fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
ATM
(M1308fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
ATM
(V908fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
ATM
(V716fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
ATM
(E450fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
ATM
(I420fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
ATM
(R90fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
ATM
(L64fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
PTEN
Deletion
(splice acceptor variant)
Gastric cancer
GPathogenic
NBN
(L641fs +1 more)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
APC
(I1657fs +12 more)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BARD1
(K120fs +1 more)
Deletion
(frameshift variant +2 more)
Gastric cancer
GPathogenic
BARD1
(T191fs +1 more)
Deletion
(frameshift variant +2 more)
Gastric cancer
GPathogenic
BARD1
(Q226fs +1 more)
Deletion
(frameshift variant +2 more)
Gastric cancer
GPathogenic
BARD1
(S325fs +1 more)
Deletion
(frameshift variant +2 more)
Gastric cancer
GPathogenic
MSH6
Deletion
(splice donor variant +1 more)
Gastric cancer
GPathogenic
MSH6
(D1041fs +2 more)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
MSH6
(H616fs +2 more)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRCA2
(R1025* +3 more)
Single nucleotide variant
(nonsense)
Gastric cancer
GPathogenic
EPCAM
(T56fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
EPCAM
Microsatellite
(nonsense)
Gastric cancer
GPathogenic
EPCAM
(A14fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
MUTYH, TOE1
Deletion
(5 prime UTR variant +2 more)
Gastric cancer
GPathogenic
MUTYH
(D61fs +5 more)
Microsatellite
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
GPathogenic
CHEK2
Deletion
(nonsense +2 more)
Gastric cancer
GPathogenic
BRIP1
(E767fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRCA1
(Q155fs +1 more)
Deletion
(frameshift variant +1 more)
Gastric cancer
GPathogenic
PALB2
(S220fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
BRCA2
(T2207fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
BRCA2
(C2117fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GPathogenic
BRCA2
(S2219*)
Single nucleotide variant
(nonsense)
Gastric cancer
GPathogenic
BRCA2
(S1630fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E984fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
ATM, C11orf65
(I2055fs)
Deletion
(frameshift variant +1 more)
Gastric cancer
GPathogenic
BARD1
Deletion
(splice donor variant +1 more)
Familial cancer of breast
GLikely pathogenic
EPCAM
(P4fs)
Deletion
(frameshift variant)
Gastric cancer
GPathogenic
CHEK2
(E172fs +3 more)
Duplication
(frameshift variant)
Gastric cancer
GPathogenic
BRIP1
(E74fs)
Duplication
(frameshift variant)
Gastric cancer
GPathogenic
BRIP1
(V943fs)
Duplication
(frameshift variant)
Gastric cancer
GPathogenic
BRIP1
(I1198fs)
Duplication
(frameshift variant)
Gastric cancer
GPathogenic
RAD51C
(E40fs)
Duplication
(frameshift variant +1 more)
Gastric cancer
GPathogenic
HOXB13
(L255fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
HOXB13
(Q259fs)
Duplication
(frameshift variant)
Gastric cancer
GPathogenic
NF1
(W1314fs)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
TP53
(Y103* +1 more)
Duplication
(nonsense +1 more)
Gastric cancer
GPathogenic
BRCA2
(T1867fs)
Duplication
(frameshift variant)
Hereditary breast ovarian cancer syndrome
GPathogenic
CDK4
(E94*)
Duplication
(nonsense)
Gastric cancer
GPathogenic
ATM, C11orf65
(A2274fs)
Duplication
(frameshift variant +1 more)
Gastric cancer
GPathogenic
ATM
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
GLikely pathogenic
ATM
(N1793fs)
Microsatellite
(frameshift variant)
Gastric cancer
GPathogenic
ATM
(D1630fs)
Duplication
(frameshift variant)
Gastric cancer
GPathogenic
ATM
(Q852fs)
Duplication
(frameshift variant)
Ataxia-telangiectasia syndrome
GPathogenic
PTEN
(C124fs +1 more)
Duplication
(frameshift variant +1 more)
Gastric cancer
GPathogenic
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