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Links from MedGen

Items: 1 to 100 of 182

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GYG1
(V257I)
Single nucleotide variant
(missense variant +1 more)
Polyglucosan body myopathy type 2
+1 more
GUncertain significance
GYG1
(D346Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GYG1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(I111T)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+2 more
GUncertain significance
GYG1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(E294Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
GYG1
Single nucleotide variant
(synonymous variant +1 more)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
(G161D)
Single nucleotide variant
(missense variant)
Polyglucosan body myopathy type 2
+1 more
GUncertain significance
LOC129937737, GYG1
Single nucleotide variant
(intron variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant)
Polyglucosan body myopathy type 2
+1 more
GUncertain significance
GYG1
(L215F +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(synonymous variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
(Q164R)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
(R228W +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(A19V)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
Deletion
Glycogen storage disease XV
+1 more
GPathogenic
GYG1
(L84P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GYG1
(S91L)
Single nucleotide variant
(missense variant)
Polyglucosan body myopathy type 2
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(synonymous variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
(L284R)
Single nucleotide variant
(missense variant +1 more)
Polyglucosan body myopathy type 2
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(intron variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
(N147S)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(R228Q)
Single nucleotide variant
(synonymous variant +1 more)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
(R292T)
Single nucleotide variant
(missense variant +1 more)
Polyglucosan body myopathy type 2
+1 more
GUncertain significance
GYG1
(A39T)
Single nucleotide variant
(missense variant)
Polyglucosan body myopathy type 2
+2 more
GUncertain significance
GYG1
(E118fs)
Microsatellite
(frameshift variant)
Glycogen storage disease XV
+1 more
GPathogenic
GYG1
(Q28*)
Single nucleotide variant
(nonsense)
Polyglucosan body myopathy type 2
+1 more
GPathogenic
GYG1
(A282V +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(T223I)
Single nucleotide variant
(missense variant +1 more)
Polyglucosan body myopathy type 2
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Deletion
(inframe_deletion +1 more)
Polyglucosan body myopathy type 2
+1 more
GUncertain significance
GYG1
(S284P +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(Y282fs)
Duplication
(frameshift variant +1 more)
Glycogen storage disease XV
+1 more
GPathogenic
GYG1
(T177A)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(D234N +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(V274I)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(V54F)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(synonymous variant +1 more)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(L38F)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(N251I)
Single nucleotide variant
(missense variant +1 more)
Polyglucosan body myopathy type 2
+1 more
GUncertain significance
GYG1
(Q4*)
Single nucleotide variant
(nonsense)
Polyglucosan body myopathy type 2
+1 more
GPathogenic
GYG1
(Q148K)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(intron variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1, LOC129937737
(T2R)
Single nucleotide variant
(missense variant)
Polyglucosan body myopathy type 2
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(intron variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(V203M)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(A200V)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(T228fs)
Deletion
(frameshift variant +1 more)
Glycogen storage disease XV
+1 more
GPathogenic
GYG1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(R216*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
GYG1
(W250C)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(Q263P)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
GYG1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease XV
+1 more
GBenign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(A16T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GBenign
GYG1
Single nucleotide variant
(intron variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(E244A)
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(I242T)
Single nucleotide variant
(synonymous variant +1 more)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(R224H)
Single nucleotide variant
(synonymous variant +1 more)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
(G216E)
Single nucleotide variant
(synonymous variant +1 more)
Polyglucosan body myopathy type 2
+1 more
GLikely benign
GYG1
Single nucleotide variant
(intron variant)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(Q245P)
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease XV
+1 more
GLikely benign
GYG1
(Y95C)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(D68G)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(S320T +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
Single nucleotide variant
(splice donor variant)
Glycogen storage disease XV
+1 more
GLikely pathogenic
GYG1
(I252T)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1, LOC129937737
(M1K)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(Q42K)
Single nucleotide variant
(missense variant)
Polyglucosan body myopathy type 2
+1 more
GUncertain significance
GYG1
(T255I)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(N12K)
Single nucleotide variant
(missense variant)
Glycogen storage disease XV
+1 more
GUncertain significance
GYG1
(R216Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
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