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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(H1047L)
Single nucleotide variant
(missense variant)
Colorectal cancer
+6 more
GPathogenic
FGFR3
(P250R)
Single nucleotide variant
(missense variant +1 more)
Coronal craniosynostosis
+26 more
GPathogenic/Likely pathogenic
APC
(L461M +12 more)
Single nucleotide variant
(missense variant)
Classic or attenuated familial adenomatous polyposis
+3 more
GUncertain significance
APC
(S442I +12 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+1 more
GUncertain significance
APC
(E1149fs +12 more)
Microsatellite
(frameshift variant)
Familial adenomatous polyposis 1
GPathogenic
APC
(N2575S +12 more)
Single nucleotide variant
(missense variant)
Classic or attenuated familial adenomatous polyposis
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic
BUB1B
(Q461P)
Single nucleotide variant
(missense variant)
Colorectal cancer
+3 more
GUncertain significance
PALB2
(Q60fs)
Microsatellite
(frameshift variant)
not provided
+5 more
GPathogenic/Likely pathogenic
FLCN
(R179W +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+7 more
GConflicting classifications of pathogenicity
AXIN2
(D843N +1 more)
Single nucleotide variant
(missense variant)
Oligodontia-cancer predisposition syndrome
+3 more
GUncertain significance
CHEK2
(S355fs +4 more)
Deletion
(frameshift variant)
CHEK2-related cancer predisposition
+10 more
GPathogenic/Likely pathogenic
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Colitis
+19 more
GPathogenic
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
Malignant tumor of prostate
+14 more
GConflicting classifications of pathogenicity; risk factor
CHEK2
Single nucleotide variant
(splice donor variant)
CHEK2-related cancer predisposition
+11 more
GPathogenic/Likely pathogenic
CHEK2
(R117G +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related cancer predisposition
+14 more
GPathogenic/Likely pathogenic
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