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Links from MedGen

Items: 1 to 100 of 305

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKA2
(E196K)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(V1088M)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2, PHKA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(T1041A)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(M183V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(synonymous variant)
PHKA2-related disorder
+1 more
GLikely benign
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2, PHKA2-AS1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(A374V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2, PHKA2-AS1
(R1137W)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(V801F)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(P195fs)
Deletion
(frameshift variant)
Glycogen storage disease IXa1
GPathogenic
PHKA2
(H501fs)
Deletion
(frameshift variant)
Glycogen storage disease IXa1
GPathogenic
PHKA2
(F170S)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(T507A)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(C934W)
Single nucleotide variant
(missense variant)
PHKA2-related disorder
+1 more
GLikely benign
PHKA2
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease IXa1
GLikely pathogenic
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(R361G)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2, PHKA2-AS1
(E1142K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Glycogen storage disease IXa1
GUncertain significance
PHKA2, PHKA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
PHKA2-related disorder
+1 more
GBenign/Likely benign
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GBenign
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(D180N)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(D753N)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2, PHKA2-AS1
(Y1222S)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
+1 more
GLikely benign
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(L928fs)
Deletion
(frameshift variant)
Glycogen storage disease IXa1
GPathogenic
PHKA2
Deletion
(splice donor variant)
Glycogen storage disease IXa1
GPathogenic
PHKA2
(G965D)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2, PHKA2-AS1
(D1186A)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease IXa1
GLikely pathogenic
PHKA2
(K385E)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(H1096R)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(W750*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXa1
GLikely pathogenic
PHKA2
Single nucleotide variant
(splice donor variant)
Glycogen storage disease IXa1
GLikely pathogenic
PHKA2
(E1112D)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(I586S)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(L320P)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(E659K)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(A163V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
Deletion
Glycogen storage disease IXa1
GPathogenic
PHKA2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PHKA2
(A15V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
+1 more
GUncertain significance
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2, PHKA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(R1069C)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(P498T)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(I1058M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(T990I)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(T552I)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
+1 more
GUncertain significance
PHKA2
(S1053L)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(R392*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXa1
GPathogenic
PHKA2
(P867L)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(Q474*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXa1
GPathogenic
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2, PHKA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(G800R)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
+1 more
GLikely benign
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2, PHKA2-AS1
(R1130C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Glycogen storage disease IXa1
+1 more
GConflicting classifications of pathogenicity
PHKA2
(M716V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PHKA2
(R860W)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(R488W)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
Microsatellite
(intron variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(K73R)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2, PHKA2-AS1
(R1137P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GBenign
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
(Q657*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXa1
GPathogenic
PHKA2
(C1095Y)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2-AS1, PHKA2
(S1172R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(V390I)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(I241L)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
(R298*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXa1
GLikely pathogenic
PHKA2
(Q404*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXa1
GPathogenic
PHKA2
Single nucleotide variant
(splice donor variant)
Glycogen storage disease IXa1
GPathogenic
PHKA2
(R186P)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GLikely pathogenic
PHKA2
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease IXa1
GLikely pathogenic
PHKA2
(R500Q)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
+1 more
GUncertain significance
PHKA2
(G258R)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXa1
GLikely benign
PHKA2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXa1
GLikely benign
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