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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMS2
(M622I +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(T597S +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
GBenign
PMS2
(L571I +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
PMS2
(R563L +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
PMS2
(K541E +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GBenign
PMS2
(E537K +7 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GBenign/Likely benign
PMS2
(T511M +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(T511A +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Breast and/or ovarian cancer
+5 more
GBenign/Likely benign
PMS2
Duplication
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GBenign/Likely benign
PMS2
(R20Q)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
GBenign
PMS2
(I18V)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 1
GLikely benign
PMS2
Single nucleotide variant
(5 prime UTR variant +1 more)
Breast and/or ovarian cancer
+5 more
GBenign/Likely benign
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