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Links from Gene

Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYGM
Duplication
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Deletion
Glycogen storage disease, type V
GPathogenic
PYGM
Deletion
Glycogen storage disease, type V
GPathogenic
PYGM
Deletion
Glycogen storage disease, type V
GPathogenic
PYGM
(E698* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(F621fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(E374fs +1 more)
Duplication
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(N45fs)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(E23fs)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(Y639* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(V16fs)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(W278* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type V
GPathogenic
PYGM
(S226Y +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(E179Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(G152S)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type V
GUncertain significance
PYGM
(E108K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(D140fs +1 more)
Duplication
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(F458fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(L192fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Microsatellite
(splice donor variant)
Glycogen storage disease, type V
GPathogenic
PYGM
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(R106fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(V41fs)
Insertion
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(F671fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(K395fs +1 more)
Duplication
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(E209* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(W404* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type V
GPathogenic
PYGM
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(A572D +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(R67fs)
Duplication
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(Y158fs)
Duplication
(frameshift variant +1 more)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(W157* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(L338fs +1 more)
Duplication
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(P294A +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(K104N +1 more)
Single nucleotide variant
(missense variant)
Tip-toe gait
GLikely pathogenic
PYGM
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PYGM
(Y85H)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type V
GUncertain significance
PYGM
(E752K +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
(A688T +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(L475F +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(G333E +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(R326Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(N325K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(P243Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(I470V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(P49Q)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(A586V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(I319V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(I83F)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type V
GConflicting classifications of pathogenicity
PYGM
(A734V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(G136S)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type V
GUncertain significance
PYGM
(E702K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(D423E +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(T537I +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(Y733C +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(K81R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(R185H +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(T288I +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(R34Q)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(G583C +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(H74Q)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(Y75F)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(F621L +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(T237M +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(N325S +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(Y85fs)
Deletion
(frameshift variant +1 more)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(K504* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type V
GPathogenic
PYGM
(H37R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(W300C +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(A328V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(M595V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(E615K +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
GUncertain significance
PYGM
(L116V)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type V
GUncertain significance
PYGM
(L135V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
PYGM
(C581fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GLikely pathogenic
PYGM
(I566S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYGM
(D770A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYGM
(D629G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYGM
(P477T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYGM
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
Display optionsSort by RelevanceDownload
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