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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCA, LOC132090450
Single nucleotide variant
(splice donor variant)
Neurodevelopmental abnormality
GLikely pathogenic
FANCA
(V372fs)
Microsatellite
(frameshift variant)
Fanconi anemia
+2 more
GPathogenic