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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYGM
(N168H)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type V
GUncertain significance
PYGM
(R50*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic
PYGM
(M1V)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type V
GPathogenic/Likely pathogenic
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