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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GYS1
(P442A +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
(F440L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GYS1
(M416V +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
+1 more
GBenign/Likely benign
GYS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
GYS1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
+1 more
GConflicting classifications of pathogenicity
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