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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAFB
Indel
(inframe_indel)
not provided
GUncertain significance
MAFB
(S69L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
MAFB
(C46fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LOC130065873, MAFB
Single nucleotide variant
not provided
GBenign
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