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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(L301fs +3 more)
Deletion
(frameshift variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
+11 more
GPathogenic/Likely pathogenic
HOXB13
(G84E)
Single nucleotide variant
(missense variant)
Prostate cancer, hereditary, 9
+7 more
GConflicting classifications of pathogenicity; association
PTPN11
(N308D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
NBN
(I171V +1 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+8 more
GConflicting classifications of pathogenicity
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
Predisposition to cancer
+14 more
GConflicting classifications of pathogenicity; risk factor
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