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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCF, LOC130005444
(W304S)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF, LOC130005444
(Q300*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group F
GLikely pathogenic