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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE4B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDE4B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PDE4B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PDE4B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PDE4B
(S531C +5 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
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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