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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129930669, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930669, PGM1
(G82W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC129930669, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930669, PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930669, PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930669, PGM1
Indel
(intron variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
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