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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCA
(R917*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
FANCA, LOC130059837
(E886D)
Single nucleotide variant
(missense variant)
FANCA-related disorder
+3 more
GConflicting classifications of pathogenicity
FANCA
(F456S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
GLikely pathogenic
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