U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GYS1
(G266fs +1 more)
Microsatellite
(frameshift variant +1 more)
Glycogen storage disease
GLikely pathogenic
PYGM
(R570W +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GYS2
(T361fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PYGM
(G607R +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
+1 more
GPathogenic
PFKM
(P618fs +8 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
AGL
(R1487* +6 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease type III
+1 more
GPathogenic/Likely pathogenic
GAA
(M439K)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GPathogenic
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GPathogenic
GAA
(W746C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GPathogenic
GBE1
Single nucleotide variant
(splice donor variant)
Adult polyglucosan body disease
+6 more
GPathogenic
GYG1
(D102H)
Single nucleotide variant
(missense variant)
Polyglucosan body myopathy type 2
+5 more
GConflicting classifications of pathogenicity
GAA
(C103G)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GPathogenic
GAA
(K849fs)
Deletion
(frameshift variant)
Glycogen storage disease, type II
GPathogenic
GYS2
(R246*)
Single nucleotide variant
(nonsense)
See cases
+4 more
GPathogenic/Likely pathogenic
G6PC1
(Q347*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
G6PC1
(R83C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
SLC37A4
(L275fs +2 more)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic
Format
Items per page
Sort by
Choose Destination