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Links from Gene

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
NADK2-related disorder
GLikely benign
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
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
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
LOC129993801, NADK2
(R36Q)
Single nucleotide variant
(missense variant +1 more)
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
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
(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
LOC129993801, NADK2
(G38V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
(P26R)
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
(H46Y)
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
LOC129993801, NADK2
(V74del)
Microsatellite
(inframe_deletion +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
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
LOC129993801, NADK2
(A62P)
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
(D63fs)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, 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
LOC129993801, NADK2
Single nucleotide variant
(synonymous 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
(P26L)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(A62G)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2, LOC129993801
(R5G)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(A32fs)
Deletion
(frameshift variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(H46fs)
Duplication
(frameshift variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(G57R)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LOC129993802, NADK2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC129993801, NADK2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
LOC129993801, NADK2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, 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
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
(T2I)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(R61G)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(R61H)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
LOC129993801, NADK2
(E95*)
Single nucleotide variant
(nonsense +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(L37P)
Single nucleotide variant
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(G18S)
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
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
(R34W)
Indel
(missense variant +1 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
LOC129993801, NADK2
(M1V)
Single nucleotide variant
(missense variant +2 more)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
LOC129993801, NADK2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
LOC129993801, NADK2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
LOC129993801, NADK2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
LOC129993801, NADK2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign
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