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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCA, LOC130059837
+1 more
Copy number loss
Fanconi anemia complementation group A
GPathogenic
FANCA, LOC130059837
(Q869P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
FANCA
(Q423*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
+1 more
GPathogenic/Likely pathogenic
FANCA, LOC112486223
(M1K)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group A
GPathogenic/Likely pathogenic
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