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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
(E643K +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
MSH2
(I735V +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MSH6
(P1087S +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 5
+7 more
GConflicting classifications of pathogenicity
MLH1
(M383T +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
APC
(I2329V +12 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
APC
(I2756V +12 more)
Single nucleotide variant
(missense variant)
Colorectal adenoma
+6 more
GConflicting classifications of pathogenicity
RET
(V804M +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+12 more
GPathogenic/Likely pathogenic
MEN1
(R171W +1 more)
Single nucleotide variant
(missense variant)
Ovarian cancer
+4 more
GConflicting classifications of pathogenicity
BRCA2
(Y1894*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
TSC2
(N56S +2 more)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
+3 more
GConflicting classifications of pathogenicity
BRCA1
(V1804D +90 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(R1699W +78 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(R1203* +21 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(V271M +19 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GBenign/Likely benign
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