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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
(Y522* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(S823G +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GConflicting classifications of pathogenicity
MSH6
(R1005* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(T1284M +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH3
(L799R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PMS2
(P246T +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+3 more
GUncertain significance
FGFR2
(S252W +3 more)
Single nucleotide variant
(missense variant +2 more)
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
+14 more
GPathogenic
MLH3
(V934fs)
Deletion
(frameshift variant)
Endometrial carcinoma
GLikely pathogenic
MLH3
(R44S)
Single nucleotide variant
(missense variant)
Endometrial carcinoma
GUncertain significance
BRCA1
(E23fs)
Microsatellite
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
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