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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806253, STAMBP
(Y36fs)
Indel
(frameshift variant +3 more)
not provided
GPathogenic
STAMBP
(R424* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic/Likely pathogenic