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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCM
(Q354* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
FANCM
(Y445* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia
GPathogenic
FANCM
(G523fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
FANCM
(R606del +1 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
FANCM
(Q657* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia
GPathogenic
FANCM
(Q2006* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
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