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Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUTYH
(E466* +8 more)
Single nucleotide variant
(nonsense +1 more)
Familial adenomatous polyposis 2
+4 more
GPathogenic
MUTYH
(E383fs +7 more)
Duplication
(frameshift variant +1 more)
Familial adenomatous polyposis 2
+3 more
GPathogenic/Likely pathogenic
MUTYH
(G382D +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+8 more
GPathogenic/Likely pathogenic
MUTYH
(Y165C +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
MUTYH
(Y90* +5 more)
Single nucleotide variant
(nonsense +2 more)
Familial adenomatous polyposis 2
+4 more
GPathogenic/Likely pathogenic
BCL10
(I46fs)
Duplication
(frameshift variant)
Carcinoma of colon
+1 more
GPathogenic
NRAS
(G13R)
Single nucleotide variant
(missense variant)
Noonan syndrome 6
GLikely pathogenic
MSH2
Single nucleotide variant
(intron variant)
Lynch syndrome
GPathogenic
MSH2
(G322D +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
MSH2
(R406* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(N420fs +1 more)
Microsatellite
(frameshift variant)
Lynch syndrome
GPathogenic
MSH2
(N596del +1 more)
Deletion
(inframe_deletion)
Lynch syndrome
GPathogenic
MSH2
(A636P +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GPathogenic
MSH6
(Q4*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+8 more
GPathogenic/Likely pathogenic
MSH6
(V878A +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
MSH6
(F958fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
BUB1
(H1024fs +2 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
PPARG
(S186fs +2 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
PPARG
(Q314P +2 more)
Single nucleotide variant
(missense variant +1 more)
Carcinoma of colon
GPathogenic
PPARG
(R77H +2 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related condition
GUncertain significance
PPARG
(K108* +2 more)
Single nucleotide variant
(nonsense +1 more)
Carcinoma of colon
GPathogenic
MLH1
(R265C +3 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(K618del +5 more)
Microsatellite
(inframe_deletion +1 more)
Lynch syndrome
GPathogenic
MLH1
(K618A +5 more)
Indel
(missense variant +1 more)
Lynch syndrome
GBenign
CTNNB1, LOC126806658
(S33Y +1 more)
Single nucleotide variant
(missense variant)
Prostate adenocarcinoma
+13 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(S45del +1 more)
Deletion
(inframe_deletion)
Nephroblastoma
+1 more
GPathogenic; other
PIK3CA
(E545K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PIK3CA
(E545G)
Single nucleotide variant
(missense variant)
Melanoma
+26 more
GPathogenic/Likely pathogenic
PIK3CA
(Q546K)
Single nucleotide variant
(missense variant)
Segmental undergrowth associated with mainly venous malformation with capillary component
+1 more
GConflicting classifications of pathogenicity
PIK3CA
(H1047Y)
Single nucleotide variant
(missense variant)
CLOVES syndrome
+17 more
GPathogenic
PIK3CA
(H1047R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
FGFR3
(R248C)
Single nucleotide variant
(missense variant +1 more)
not provided
+32 more
GPathogenic
FGFR3
(S249C)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
+17 more
GPathogenic
OOncogenic
FGFR3
(H284fs)
Deletion
(frameshift variant +1 more)
Carcinoma of colon
GPathogenic
FGFR3
(E322K)
Single nucleotide variant
(missense variant +2 more)
Carcinoma of colon
GPathogenic
FGFR3
(G380R +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+18 more
GPathogenic
FGFR3
(N540K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+18 more
GPathogenic/Likely pathogenic
APC
(R499* +12 more)
Single nucleotide variant
(nonsense)
Familial multiple polyposis syndrome
+3 more
GPathogenic
APC
(Q541* +12 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 1
+2 more
GPathogenic
APC
(R554* +12 more)
Single nucleotide variant
(nonsense)
Colorectal cancer, susceptibility to
+8 more
GPathogenic
APC
(Y935* +12 more)
Single nucleotide variant
(nonsense)
Colorectal cancer, susceptibility to
+8 more
GPathogenic
APC
(I1307K +12 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to
+7 more
GConflicting classifications of pathogenicity; association; risk factor
APC
(E1149fs +12 more)
Microsatellite
(frameshift variant)
Familial adenomatous polyposis 1
GPathogenic
APC
(E1317Q +12 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
APC
(Q1338* +12 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 1
GPathogenic
APC
(E1363fs +12 more)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
APC
(S1305fs +12 more)
Microsatellite
(frameshift variant)
Colorectal cancer, susceptibility to
+3 more
GConflicting classifications of pathogenicity
MCC
(A698V +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
MCC
(R506Q +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
PMS2
(R443fs +7 more)
Indel
(frameshift variant +1 more)
Hereditary nonpolyposis colon cancer
+3 more
GPathogenic/Likely pathogenic
PMS2
Indel
(nonsense +2 more)
Lynch syndrome
GPathogenic
PTPN12
(K61R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Carcinoma of colon
GPathogenic
BRAF
(K601E +7 more)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GPathogenic
BRAF
(V600E +7 more)
Single nucleotide variant
(missense variant)
Vascular malformation
+4 more
GPathogenic/Likely pathogenic
STier I - Strong
BRAF
(G464E +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(I463S +7 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
BRAF
(R462I +7 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
DLC1
(T522A +3 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
PDGFRL
(H23Y)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
NBN
(I171V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
RAD54B
(D418Y +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
PTPRJ
(R214C)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
PTPRJ
(Q276P)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
+2 more
GBenign/Likely benign
MLH3
(E828*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GUncertain significance
AKT1
(E17K)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
+2 more
GPathogenic
BUB1B
(T40M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
TP53
(R248Q +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
FLCN
(A445T +1 more)
Single nucleotide variant
(missense variant)
Familial spontaneous pneumothorax
+4 more
GConflicting classifications of pathogenicity
FLCN
(S79W)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
AXIN2
(E706* +1 more)
Single nucleotide variant
(nonsense)
Carcinoma of colon
GPathogenic
AXIN2
(G665fs +1 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
SMAD4
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GPathogenic
DCC
(P1375H)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
BAX
(E41fs +1 more)
Duplication
(frameshift variant +3 more)
Inborn genetic diseases
GUncertain significance
BAX
(E4fs +1 more)
Deletion
(frameshift variant +3 more)
Carcinoma of colon
GPathogenic
EP300
(R580*)
Single nucleotide variant
(nonsense)
Carcinoma of colon
+1 more
GPathogenic/Likely pathogenic
EP300
(P2221Q +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
MT-ND1
Single nucleotide variant
not specified
+1 more
GBenign/Likely benign
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