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Links from MedGen

Items: 1 to 100 of 2563

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAA
(H568R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GPathogenic
GAA
Deletion
(inframe_deletion)
Glycogen storage disease, type II
GPathogenic
GCK
(Y33* +5 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type II
GPathogenic
GAA
(E539G)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(N520I)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GPathogenic
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
+1 more
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(S735C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(H53fs)
Deletion
(frameshift variant)
Glycogen storage disease, type II
GPathogenic
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
(P161H)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(G651fs)
Indel
(frameshift variant)
Glycogen storage disease, type II
GPathogenic
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Duplication
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
(N140I)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
(L552F)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenic
GAA
(H10L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
(K114R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Deletion
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
(I823V)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type II
GPathogenic
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(Q81fs)
Deletion
(frameshift variant)
Glycogen storage disease, type II
GPathogenic
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Deletion
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Duplication
(intron variant)
Glycogen storage disease, type II
GBenign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(Q323*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type II
GPathogenic
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
(Y407C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenic
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
(Y209C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Microsatellite
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
+1 more
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(L699P)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GPathogenic
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(H572Y)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenic
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Microsatellite
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(R660G)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenic
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
(Q914fs)
Indel
(frameshift variant)
Glycogen storage disease, type II
GPathogenic
GAA
(M408T)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenic
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(Q100E)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
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