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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1orf141
(M340fs)
Deletion
(frameshift variant +2 more)
not provided
GBenign/Likely benign
C1orf141, AK4
+32 more
Duplication
PGM1-congenital disorder of glycosylation
GUncertain significance
AK4, ALG6
+32 more
Deletion
not provided
GPathogenic
AK4, C1orf141
+14 more
Deletion
not provided
GPathogenic
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