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Links from MedGen

Items: 1 to 100 of 550

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(A33G)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Deletion
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GBenign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Duplication
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Deletion
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Duplication
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GBenign
GYS1
Single nucleotide variant
(synonymous variant +2 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(Y514fs +1 more)
Deletion
(frameshift variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GPathogenic
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(S358G +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(E57*)
Single nucleotide variant
(nonsense)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GPathogenic
GYS1, LOC119369037
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(S659R +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +2 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(E398fs +1 more)
Insertion
(frameshift variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GPathogenic
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1, LOC119369037
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
GYS1
(T371M +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Duplication
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(R322H +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
(R239Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
(R131* +1 more)
Single nucleotide variant
(nonsense +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GPathogenic
GYS1
(P112S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(A234T +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
+1 more
GUncertain significance
GYS1
(N336S +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(D23N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GYS1
(R241* +1 more)
Single nucleotide variant
(nonsense +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GPathogenic
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(A633P +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
(L285P +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(D340N +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1, LOC119369037
(P545L +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
(M355V +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(D407N +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
(G330R +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +2 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1, LOC119369037
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(S495N +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
(R524H +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
(R650* +1 more)
Single nucleotide variant
(nonsense +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(L3fs)
Deletion
(frameshift variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GPathogenic
GYS1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(G401R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(R146H)
Single nucleotide variant
(missense variant +2 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
(R128C)
Single nucleotide variant
(missense variant +2 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Microsatellite
(intron variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GLikely benign
GYS1
Single nucleotide variant
(synonymous variant +2 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
+1 more
GLikely benign
GYS1
(G59D)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
(A265T +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GPathogenic
GYS1
(K50N)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
(N665K +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
GYS1
(A616S +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GUncertain significance
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