U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH6
(S144I)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
GBenign
MSH6
(R772W +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GPathogenic
MSH6
(V507del +1 more)
Deletion
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
MSH6
(Y969C +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
GLikely pathogenic
MSH6
(F1088fs +2 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(Q1314fs +2 more)
Duplication
(frameshift variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GPathogenic
BARD1
(Q564* +3 more)
Single nucleotide variant
(nonsense +2 more)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
PMS2
(G750D +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+5 more
GConflicting classifications of pathogenicity
MLH3
(F50Y)
Single nucleotide variant
(missense variant)
Hereditary cancer
+3 more
GConflicting classifications of pathogenicity
CDH1
(P3R)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GLikely benign
CDH1
(E702K +3 more)
Single nucleotide variant
(missense variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
BRCA1
(Q1756fs +3 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q563* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Breast and colorectal cancer, susceptibility to
+11 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination