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Links from MedGen

Items: 1 to 100 of 298

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126807437, MSH3
(A332fs)
Insertion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(Y509*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
Indel
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
Single nucleotide variant
(splice acceptor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
Duplication
(splice donor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
(E437*)
Single nucleotide variant
(nonsense)
Endometrial carcinoma
+1 more
GPathogenic/Likely pathogenic
DHFR, MSH3
Duplication
(5 prime UTR variant +1 more)
Familial adenomatous polyposis 4
GBenign
MSH3
(N1098fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MSH3
(E437fs)
Insertion
(frameshift variant)
Endometrial carcinoma
+1 more
GPathogenic/Likely pathogenic
DHFR, MSH3
Duplication
(5 prime UTR variant +1 more)
Familial adenomatous polyposis 4
GBenign
MSH3
(F513fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(T1054fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
DHFR, MSH3
(Q21*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(S419fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(F291fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(R623fs)
Indel
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(S570*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(K716fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
Deletion
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
Deletion
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(V1072fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(K704*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(E512fs)
Deletion
(frameshift variant)
Endometrial carcinoma
+2 more
GPathogenic/Likely pathogenic
MSH3
Deletion
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(T436fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DHFR, MSH3
(Q29fs)
Deletion
(5 prime UTR variant +2 more)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(H630fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
+1 more
GPathogenic
MSH3
(E701*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(H1029fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(L673*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(V104fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(C1015fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(E251*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(K165fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
LOC126807437, MSH3
(L339fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(I929fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(C142fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(E546fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(P765fs)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic
MSH3
(D809fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(I492fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(P286fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(F810*)
Indel
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(T480fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(A988fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(L113fs)
Indel
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(Q148*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(Y273fs)
Microsatellite
(frameshift variant)
Familial adenomatous polyposis 4
+1 more
GPathogenic
LOC126807437, MSH3
(E311fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
DHFR, MSH3
(T31fs)
Duplication
(5 prime UTR variant +2 more)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(Q852fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(T397fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(K617fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(A1086fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
+1 more
GConflicting classifications of pathogenicity
MSH3
(A1045fs)
Indel
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
Deletion
(nonsense)
not provided
+2 more
GPathogenic
MSH3
(R159fs)
Microsatellite
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(S186*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(N944fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(Q549*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(D708fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(N1020fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
+1 more
GPathogenic
MSH3
(Y462fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
+1 more
GPathogenic
MSH3
(E516*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(D450fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(Q1058*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
+1 more
GPathogenic
MSH3
(A504fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(P147fs)
Indel
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(K714fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(S748*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(C833*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
DHFR, MSH3
(A13fs)
Deletion
(5 prime UTR variant +2 more)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(M892fs)
Indel
(frameshift variant)
Endometrial carcinoma
+1 more
GPathogenic/Likely pathogenic
MSH3
(Y509*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(S762fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(Q435*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
LOC126807437, MSH3
(S324*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(V851fs)
Deletion
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(E261*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(Q731*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
+1 more
GPathogenic
DHFR, MSH3
(Q29*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial adenomatous polyposis 4
GPathogenic
MSH3
Single nucleotide variant
(splice acceptor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
Deletion
(splice donor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
Indel
(splice donor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
Deletion
(splice donor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
Single nucleotide variant
(splice donor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
Insertion
(splice donor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
Single nucleotide variant
(splice donor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
Single nucleotide variant
(splice donor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
Single nucleotide variant
(splice acceptor variant)
Endometrial carcinoma
+2 more
GLikely pathogenic
MSH3
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
MSH3
Single nucleotide variant
(splice acceptor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
Single nucleotide variant
(splice donor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
Single nucleotide variant
(splice donor variant)
Familial adenomatous polyposis 4
GLikely pathogenic
MSH3
(D698fs)
Duplication
(frameshift variant)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(Y744fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
MSH3
(Q852*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
(K103*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
GPathogenic
MSH3
Deletion
Familial adenomatous polyposis 4
GLikely pathogenic
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