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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCD2, FANCD2OS
(V1056D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer
GLikely benign
FANCD2, FANCD2OS
(R1199C +1 more)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group D2
+1 more
GUncertain significance
FANCD2, FANCD2OS
Single nucleotide variant
(splice donor variant +1 more)
Fanconi anemia complementation group D2
GPathogenic
FANCD2, FANCD2OS
Deletion
(intron variant)
Fanconi anemia complementation group A
+1 more
GBenign
FANCD2, FANCD2OS
Deletion
(inframe_deletion +1 more)
Global developmental delay
+5 more
GUncertain significance
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