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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SET
(D251fs +3 more)
Duplication
(frameshift variant)
Dysgerminoma
Gother
KIT
Duplication
(frameshift variant)
Dysgerminoma
Gother
BRCA1
(L455fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
KIT
(D816H +5 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KIT
(D816V +5 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GConflicting classifications of pathogenicity
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