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Links from MedGen

Items: 1 to 100 of 411

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKA1
(S1022fs +2 more)
Microsatellite
(frameshift variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(I517V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(Q192H)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(E701D +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1, PHKA1-AS1
(W130*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXd
GPathogenic
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(L739S +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(R804Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(S790F +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(D887V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(M829V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(F1090Y +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Deletion
(intron variant)
Glycogen storage disease IXd
GBenign
PHKA1
(Q665R +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(E69D)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1, PHKA1-AS1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(V262M)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(D649H)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(I156V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(P1013S +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(T1161A +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1, PHKA1-AS1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(I460V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(G963R +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(H237Q)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(R860* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXd
GPathogenic
PHKA1
(P811S +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(D216G)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(Y511fs)
Duplication
(frameshift variant)
Glycogen storage disease IXd
GPathogenic
PHKA1
(V1019F +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(R863* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXd
GPathogenic
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(Y1202F +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(Q836* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXd
GPathogenic
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(H791Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(Q1094L +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(S552G)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(V358L)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(D793E +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1, PHKA1-AS1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1, PHKA1-AS1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(G765D +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(P1030T +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(D698V)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(Y531C)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(V747L +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(V660I)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(M903K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GBenign
PHKA1
(N736I +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(W328R)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(synonymous variant)
PHKA1-related disorder
+1 more
GLikely benign
PHKA1
Duplication
(intron variant)
Glycogen storage disease IXd
GBenign
PHKA1, PHKA1-AS1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(M947V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(I808V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(R67G)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(R688W)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(R858L +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
Single nucleotide variant
(intron variant)
Glycogen storage disease IXd
GLikely benign
PHKA1
(A585V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(S1026N +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(A669E)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease IXd
+1 more
GUncertain significance
PHKA1
(I408V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(E929K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(I927T +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
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