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Links from Gene

Items: 1 to 100 of 257

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NADK2
(V185I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NADK2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
NADK2
(A94T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NADK2
(V155I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NADK2
Single nucleotide variant
(synonymous variant)
NADK2-related disorder
GLikely benign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
NADK2-related disorder
GLikely benign
NADK2
(Y127C)
Single nucleotide variant
(missense variant +1 more)
NADK2-related disorder
GLikely benign
NADK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NADK2
(R187W +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(S201fs +1 more)
Duplication
(frameshift variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(C241G +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(R14C)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
(A21V)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(V410A +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(N159S +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(G190V +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Single nucleotide variant
(synonymous variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(R114*)
Single nucleotide variant
(nonsense +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Deletion
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
(R24Q)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(D412G +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Duplication
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GBenign
LOC129993801, NADK2
(R36Q)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(N249S +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Single nucleotide variant
(synonymous variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Single nucleotide variant
(synonymous variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Microsatellite
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(R251H +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(A22E)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LMBRD2, NADK2
+1 more
Copy number loss
not provided
GUncertain significance
AGXT2, LOC121725200
+385 more
Copy number gain
See cases
GLikely pathogenic
LOC129993801, NADK2
(T78S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC129993801, NADK2
(Y4C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC129993801, NADK2
(C12Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NADK2
(E269D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NADK2
(V136F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NADK2
(I254V +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(T229S +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
AGXT2, AMACR
+32 more
Duplication
not provided
GUncertain significance
NADK2
Duplication
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(Y225H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
NADK2
(I125V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
LOC129993801, NADK2
(G38V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NADK2
(G133R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NADK2
(R390C +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(synonymous variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Single nucleotide variant
(synonymous variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(R340Q +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(R137H)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(P26R)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Duplication
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
(H46Y)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(synonymous variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(E132K)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(Y80C)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(A56T)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(R34W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
NADK2
(M164I +1 more)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(synonymous variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(E204G +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(Q78R +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Deletion
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
(V74del)
Microsatellite
(inframe_deletion +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(Q84* +1 more)
Single nucleotide variant
(nonsense)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(synonymous variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(R238H +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(synonymous variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(R137C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LOC129993801, NADK2
(R53H)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(P35S)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(R150*)
Single nucleotide variant
(nonsense +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(A62P)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(N358S +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(D63fs)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
ADAMTS12, AGXT2
+71 more
Copy number gain
not provided
GPathogenic
NADK2
(D153V)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
ANXA2R, C5orf34
+45 more
Copy number gain
musculoskeletal system issues
GPathogenic
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