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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
Single nucleotide variant
(splice donor variant)
Colon cancer
GPathogenic
MSH2
(P729fs +1 more)
Deletion
(frameshift variant)
Colon cancer
GPathogenic
MLH1
Deletion
Colon cancer
GPathogenic
MSH2
(P202L +1 more)
Single nucleotide variant
(missense variant)
Colon cancer
+4 more
GConflicting classifications of pathogenicity
POLE
(T466A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PMS2
(L216fs +5 more)
Deletion
(frameshift variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
MLH1
(L68fs +2 more)
Duplication
(frameshift variant +2 more)
Colon cancer
GPathogenic
APC
(S978G +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
GUncertain significance
APC
(R1221K +12 more)
Single nucleotide variant
(missense variant)
Classic or attenuated familial adenomatous polyposis
+3 more
GUncertain significance
APC
(K1808N +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
GUncertain significance
APC
(E583D +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+1 more
GUncertain significance
MLH1
Single nucleotide variant
(splice donor variant)
Hereditary nonpolyposis colon cancer
+3 more
GPathogenic/Likely pathogenic
MLH1
(T55fs +5 more)
Microsatellite
(frameshift variant)
not provided
Gno classifications from unflagged records
MLH1
(A125E +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
MLH1
(S348fs +5 more)
Microsatellite
(frameshift variant)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GPathogenic
APC
(R1676del +12 more)
Deletion
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
APC
(G235S +5 more)
Single nucleotide variant
(missense variant +1 more)
APC-Associated Polyposis Disorders
+4 more
GConflicting classifications of pathogenicity
POLD1
(A145T)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
PKHD1
(C3346R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
MUTYH
(G183D +7 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+2 more
GPathogenic/Likely pathogenic
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
+2 more
GPathogenic/Likely pathogenic
CHEK2
(T476M +4 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+9 more
GConflicting classifications of pathogenicity
XRCC2
(E207G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MSH2
(N420fs +1 more)
Microsatellite
(frameshift variant)
Lynch syndrome
GPathogenic
MLH1
(L296* +3 more)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(synonymous variant)
Lynch syndrome
GPathogenic
MLH1
(H381Y +5 more)
Single nucleotide variant
(missense variant)
Colon cancer
+2 more
GUncertain significance
CDH1
(A298T)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
MLH1
(S269* +3 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
MLH1
(T117M +2 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MUTYH
(G382D +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial colorectal cancer
+7 more
GPathogenic/Likely pathogenic
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