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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GYS2
(T361fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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
(W746C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GPathogenic
GBE1
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type IV
+6 more
GPathogenic
GYS2
(R246*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
G6PC1
(Q347*)
Single nucleotide variant
(nonsense +1 more)
G6PC1-related condition
+3 more
GPathogenic
G6PC1
(R83C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic
SLC37A4
(L275fs +2 more)
Deletion
(frameshift variant)
Congenital disorder of glycosylation, type IIw
+5 more
GPathogenic
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