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Links from MedGen

Items: 1 to 100 of 312

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PGM1, LOC129930668
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Deletion
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(V310A +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(R136fs +2 more)
Duplication
(frameshift variant)
PGM1-congenital disorder of glycosylation
GPathogenic
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant +1 more)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(K8N)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(synonymous variant +1 more)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(G171E +1 more)
Single nucleotide variant
(missense variant +1 more)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(G107L +1 more)
Indel
(missense variant +1 more)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant +1 more)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(I518fs +2 more)
Deletion
(frameshift variant)
PGM1-congenital disorder of glycosylation
GPathogenic
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(G230E +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GLikely pathogenic
LOC129930668, PGM1
(F29fs)
Deletion
(frameshift variant)
PGM1-congenital disorder of glycosylation
GPathogenic
PGM1
(G183R +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Duplication
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(G291R +2 more)
Single nucleotide variant
(missense variant)
PGM1-related condition
+1 more
GLikely pathogenic
PGM1
Indel
(intron variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(A241T +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(N283S +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(I202M +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(Y353C +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(I40M)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(S45F)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(E155K +1 more)
Single nucleotide variant
(missense variant +1 more)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930669, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(G345V +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(T399A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC129930669, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(I40fs)
Deletion
(frameshift variant)
PGM1-congenital disorder of glycosylation
GPathogenic
PGM1
(R311* +2 more)
Single nucleotide variant
(nonsense)
PGM1-congenital disorder of glycosylation
GPathogenic
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1, LOC129930669
Indel
(intron variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Duplication
(intron variant)
PGM1-congenital disorder of glycosylation
GBenign
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(V192I +1 more)
Single nucleotide variant
(missense variant +1 more)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(synonymous variant +1 more)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(E274G +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(A143G +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(G526E +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(S175F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC129930668, PGM1
(Q13P)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(D519N +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930669, PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
PGM1
(V525I +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(L205V +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(I40T)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(N529Y +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(G400S +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant +1 more)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1
(F257S +2 more)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
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