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Links from MedGen

Items: 1 to 100 of 138

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, LOC129998342
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
(S58*)
Single nucleotide variant
(nonsense +1 more)
Glycogen storage disease type X
GPathogenic
DBNL, PGAM2
(G148R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, LOC129998342
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, LOC129998341
+1 more
(R162P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(E128K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
PGAM2
Duplication
Glycogen storage disease type X
GUncertain significance
PGAM2
Deletion
Glycogen storage disease type X
GPathogenic
DBNL, PGAM2
(G144D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, LOC129998342
+1 more
(P123L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DBNL, PGAM2
(R141Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
LOC129998342, DBNL
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
(R5H)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease type X
+1 more
GUncertain significance
DBNL, LOC129998341
+1 more
(E169K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
PGAM2, DBNL
(T57M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(G24S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
PGAM2, DBNL
(R140H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, LOC129998343
+1 more
(T74M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
PGAM2, DBNL
(K46E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
PGAM2, DBNL
+1 more
(T84S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
+1 more
GUncertain significance
PGAM2, DBNL
(R65C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(F52S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, LOC129998342
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
PGAM2, DBNL
(R5C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
LOC129998341, PGAM2
+1 more
(R162Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
+1 more
GUncertain significance
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
PGAM2, DBNL
(R10Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
PGAM2, DBNL
(E154K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(R180*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GPathogenic
DBNL, PGAM2
(A42V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
PGAM2, DBNL
+1 more
(R86H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(K225Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
+1 more
GUncertain significance
DBNL, LOC129998343
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
PGAM2, DBNL
(R10W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(T238M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
+2 more
GUncertain significance
DBNL, PGAM2
(E36K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, LOC129998343
+1 more
(W78*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GPathogenic
DBNL, LOC129998342
+1 more
(R117H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
(I54fs)
Deletion
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GPathogenic
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, LOC129998343
+1 more
(T84N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(S31R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
PGAM2, DBNL
(I54T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, LOC129998341
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
(N17K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
PGAM2, DBNL
(N20T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, LOC129998341
+1 more
(W167C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
PGAM2, DBNL
+1 more
(R83C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
PGAM2, DBNL
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
(G199W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, LOC129998342
+1 more
(D120G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, LOC129998341
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, LOC129998342
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(E13K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(L6V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, LOC129998341
+1 more
(V172G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(G178S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DBNL, LOC129998342
+1 more
(P123R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
PGAM2, DBNL
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GLikely benign
DBNL, LOC129998342
+1 more
(Q111*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GPathogenic
DBNL, PGAM2
(A252D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(L182P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(R240Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(V7M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DBNL, PGAM2
(R65H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
LOC129998343, PGAM2
+1 more
(V82M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
PGAM2, DBNL
+1 more
(P122L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(R21H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(T152I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
+1 more
GConflicting classifications of pathogenicity
DBNL, LOC129998341
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DBNL, LOC129998341
+1 more
(W167C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
PGAM2, DBNL
+1 more
(I171L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, PGAM2
(R191W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DBNL, PGAM2
(K39Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
DBNL, LOC129998343
+1 more
(W78R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
GUncertain significance
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