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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG1
(S147L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
(V107M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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