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Items: 1 to 100 of 1334

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYGM
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
PYGM
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
PYGM
Single nucleotide variant
(stop lost)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Single nucleotide variant
(stop lost)
Glycogen storage disease, type V
GUncertain significance
PYGM
(I842N +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(E752K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(D751V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(D751N +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(P750A +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(R746C +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(R834G +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
+1 more
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(R744C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(R823Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PYGM
(R735W +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(A734V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(A734D +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(Y733C +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(T817N +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(T729fs +1 more)
Duplication
(frameshift variant)
Glycogen storage disease, type V
GPathogenic
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(R816H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
PYGM
(R816C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(S813P +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(I718T +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GConflicting classifications of pathogenicity
PYGM
(R716Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(R716P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PYGM
(R712Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(R800W +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(T799M +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Deletion
(nonsense)
Glycogen storage disease, type V
GPathogenic
PYGM
(W798R +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GPathogenic
PYGM
(W798R +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
+1 more
GPathogenic/Likely pathogenic
PYGM
(E797Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PYGM
(E709fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GPathogenic
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(P707Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PYGM
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type V
+1 more
GPathogenic/Likely pathogenic
PYGM
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Indel
(splice donor variant)
Glycogen storage disease, type V
GPathogenic/Likely pathogenic
PYGM
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(Y704C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PYGM
(L703F +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(L703fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GPathogenic
PYGM
(A702T +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(S701R +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(V700fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GPathogenic/Likely pathogenic
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(C784* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
PYGM
(I694T +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(Y693C +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(E779K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
PYGM
(Y778D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GLikely benign
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