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Links from MedGen

Items: 1 to 100 of 255

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYGL
(S605fs +1 more)
Duplication
(frameshift variant)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
(N374fs +1 more)
Duplication
(frameshift variant)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(H538R +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(K608T +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GConflicting classifications of pathogenicity
PYGL
(M198L +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(K647R +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(K410* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type VI
GPathogenic
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(D77del)
Deletion
(inframe_deletion)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GBenign
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(synonymous variant)
PYGL-related disorder
+1 more
GLikely benign
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(R782* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Insertion
(intron variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(Y540* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type VI
GPathogenic
PYGL
(V205fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
(M429K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(L103fs +1 more)
Duplication
(frameshift variant)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
(Q272* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
(E333K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(E121* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
(R816Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GBenign
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(R17C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(K330E +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(R94Q)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Indel
(splice donor variant)
Glycogen storage disease, type VI
+1 more
GPathogenic
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(L654V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(V60fs)
Deletion
(frameshift variant)
Glycogen storage disease, type VI
GPathogenic
PYGL
Deletion
(frameshift variant +1 more)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(Y699H +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GConflicting classifications of pathogenicity
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
+1 more
GLikely benign
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GBenign
PYGL
Single nucleotide variant
(synonymous variant)
PYGL-related disorder
+1 more
GLikely benign
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(R172* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type VI
GPathogenic
PYGL
(W216* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type VI
GPathogenic
PYGL
(D634E +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(T71P)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(W458* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type VI
GPathogenic
PYGL
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease, type VI
GLikely benign
PYGL
(R387H +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(M680I +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(Y124H +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
(V828G +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
(G661E +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
(R67fs)
Deletion
(frameshift variant)
Glycogen storage disease, type VI
GPathogenic
PYGL
(G607V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
(R353L +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(N225K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type VI
GPathogenic
PYGL
(G657R +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
+1 more
GUncertain significance
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
+1 more
GLikely benign
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease, type VI
GLikely benign
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
Deletion
(intron variant)
Glycogen storage disease, type VI
GBenign
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
GBenign
PYGL
Deletion
(intron variant)
Glycogen storage disease, type VI
GLikely benign
PYGL
(D110V)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(G102R +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(F169V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(R499Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(T432A +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(G255R +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(T488S +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Duplication
Glycogen storage disease, type VI
GUncertain significance
PYGL
(Y747H +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(I336V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(R270Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(R214Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
+1 more
GConflicting classifications of pathogenicity
PYGL
(R365G +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(Q577H +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(R533W +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
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