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Items: 1 to 100 of 564

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUTYH
(E480del +7 more)
Microsatellite
(inframe_deletion +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
MUTYH
(R426C +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MUTYH
(G382D +8 more)
Single nucleotide variant
(missense variant +1 more)
Diffuse midline glioma, H3 K27-altered
+8 more
GPathogenic/Likely pathogenic
MUTYH
(Q391* +8 more)
Single nucleotide variant
(nonsense +1 more)
Familial colorectal cancer
+3 more
GPathogenic
MUTYH
(R309C +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MUTYH
(P295L +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
MUTYH
(R294C +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
MUTYH
(A266G +7 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+2 more
GUncertain significance
MUTYH
(R245H +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+6 more
GPathogenic/Likely pathogenic
MUTYH
(A227T +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
MUTYH
(I223V +7 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+5 more
GUncertain significance
MUTYH
(E196D +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
MUTYH
(R191Q +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+5 more
GConflicting classifications of pathogenicity
MUTYH
(Y165C +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
MUTYH
(A165T +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
EPCAM
(Q45L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MSH2
(Q61P)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
MSH2
(Q61H)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GConflicting classifications of pathogenicity
MSH2
(M83V +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+4 more
GConflicting classifications of pathogenicity
MSH2
(I145M +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+9 more
GConflicting classifications of pathogenicity
MSH2
(D167H +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
GBenign
MSH2
(N120S)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
MSH2
(Q239R +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
MSH2
(G322V +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+4 more
GConflicting classifications of pathogenicity
MSH2
(L469V +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
MSH2
(L488V +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MSH2
(E561K +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+5 more
GConflicting classifications of pathogenicity
MSH2
(N583S +1 more)
Single nucleotide variant
(missense variant)
Mismatch repair cancer syndrome 1
+8 more
GConflicting classifications of pathogenicity
MSH2
(N596S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
MSH2
(V611M +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
+4 more
GUncertain significance
MSH2
(R711* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(G32D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
MSH6
(E221D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH6
(R298Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MSH6
(A342G +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MSH6
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
MSH6
(R468C +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
MSH6
(L540del +2 more)
Microsatellite
(inframe_deletion)
Lynch syndrome
GPathogenic
MSH6
(T605S +2 more)
Single nucleotide variant
(missense variant)
Endometrial carcinoma
+6 more
GConflicting classifications of pathogenicity
MSH6
(V800L +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
GLikely benign
MSH6
Single nucleotide variant
(synonymous variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GConflicting classifications of pathogenicity
MSH6
(R922* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(F1088fs +2 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(R870fs +2 more)
Microsatellite
(frameshift variant)
not provided
+5 more
GPathogenic
MSH6
(T1243S +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH6
(V1253E +2 more)
Single nucleotide variant
(missense variant)
Endometrial carcinoma
+6 more
GConflicting classifications of pathogenicity
MSH6
Single nucleotide variant
(intron variant)
Lynch syndrome 5
+4 more
GConflicting classifications of pathogenicity
BARD1
(S761N +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
BARD1
(L742M +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BARD1
(C639R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
BARD1
(I573T +3 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
BARD1
(Q564* +3 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
BARD1
(H483R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
BARD1
(E445K +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BARD1
(S376L +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
BARD1
(L239Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
BARD1
(D230E +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BARD1
(L211* +1 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
BARD1
(T54A)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BARD1
Deletion
(inframe_deletion +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
VHL
(Q73R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LOC107303340, VHL
(H125Y)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+5 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +1 more)
Von Hippel-Lindau syndrome
+3 more
GLikely benign
MLH1
(A31C)
Indel
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
MLH1
(G67R)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GUncertain significance
MLH1
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome
GLikely benign
MLH1
(R226L +2 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely pathogenic
MLH1
(G454R +5 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+8 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(splice donor variant)
Lynch syndrome
GLikely pathogenic
MLH1
(I655T +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
MLH1
(A681T +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(R725H +8 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+7 more
GConflicting classifications of pathogenicity
ABRAXAS1
(D373N +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ABRAXAS1
(S370T +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ABRAXAS1
(S261fs +1 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
ABRAXAS1
(K42R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
APC
(H427N +10 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
APC
(V512A +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+4 more
GConflicting classifications of pathogenicity
APC
(Q532* +12 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 1
+1 more
GPathogenic/Likely pathogenic
APC
(W575* +12 more)
Single nucleotide variant
(nonsense)
Desmoid disease, hereditary
+6 more
GPathogenic
APC
(P865S +12 more)
Single nucleotide variant
(missense variant)
Familial multiple polyposis syndrome
+6 more
GConflicting classifications of pathogenicity
APC
(A909G +12 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
APC
(Q1017H +12 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
APC
Deletion
(frameshift variant +1 more)
not provided
+5 more
GPathogenic
APC
(I1307K +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+8 more
GConflicting classifications of pathogenicity; association; risk factor
APC
(T1430I +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+4 more
GConflicting classifications of pathogenicity
APC
(E1363fs +12 more)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
APC
(V1587M +12 more)
Single nucleotide variant
(missense variant)
Classic or attenuated familial adenomatous polyposis
+5 more
GUncertain significance
APC
(P1843L +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
APC
(P2158R +12 more)
Single nucleotide variant
(missense variant)
Classic or attenuated familial adenomatous polyposis
+4 more
GConflicting classifications of pathogenicity
APC
(R2148Q +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+3 more
GUncertain significance
APC
(M2195I +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+8 more
GConflicting classifications of pathogenicity
APC
(A2286V +12 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
APC
(I2573V +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
RAD50
(I94T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
RAD50
(T109fs)
Deletion
(frameshift variant)
Nijmegen breakage syndrome-like disorder
+2 more
GConflicting classifications of pathogenicity
RAD50
(A232D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
RAD50
(L262R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RAD50
(R327H)
Single nucleotide variant
(missense variant)
Nijmegen breakage syndrome-like disorder
+3 more
GConflicting classifications of pathogenicity
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