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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCA, ZNF276
(A1399V)
Single nucleotide variant
(missense variant +3 more)
Fanconi anemia
+1 more
GUncertain significance
FANCA
(R1117G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FANCA
(N707D)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
+1 more
GUncertain significance
FANCA
Deletion
(nonsense)
Fanconi anemia
+2 more
GPathogenic/Likely pathogenic
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