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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GEN1
(S873R)
Single nucleotide variant
(missense variant)
Breast neoplasm
+1 more
GBenign/Likely benign
CFTR
(S895N)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+5 more
GConflicting classifications of pathogenicity
GALNT12
(P240L)
Single nucleotide variant
(missense variant)
Breast neoplasm
+2 more
GBenign/Likely benign
BRCA2
(S205fs)
Deletion
(frameshift variant)
Breast neoplasm
GPathogenic
BRCA2
(D244fs)
Deletion
(frameshift variant)
Hereditary breast ovarian cancer syndrome
+1 more
GPathogenic
BRCA1, LOC126862571
(K1110del +19 more)
Deletion
(inframe_deletion +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
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