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Items: 3

  • The following term was not found in ClinVar: heptadien.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA2
(S2616F)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
TTR
(V50M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+6 more
GPathogenic
SOD1, SOD1-DT
(A5V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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