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Items: 1 to 100 of 257

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+953 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+530 more
Copy number gain
See cases
GPathogenic
AGXT2, LOC121725200
+385 more
Copy number gain
See cases
GLikely pathogenic
LINC02057, LINC02101
+518 more
Copy number gain
See cases
GPathogenic
LOC126807367, LOC126807368
+254 more
Copy number gain
See cases
GPathogenic
NADK2
(T274I +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NADK2
(E269D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NADK2
(S263L +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(I261V +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
NADK2
(D412G +2 more)
Single nucleotide variant
(missense variant)
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
(M409V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NADK2
Single nucleotide variant
(synonymous variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NADK2
(C241G +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(R238H +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
NADK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NADK2
Single nucleotide variant
(intron variant)
not provided
GBenign
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GUncertain significance
NADK2
Single nucleotide variant
(synonymous 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
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)
not provided
GLikely benign
NADK2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
NADK2
(R215Q +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
+2 more
GBenign
NADK2
(P227L +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
+1 more
GUncertain significance
NADK2
Single nucleotide variant
(synonymous variant)
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
GLikely benign
NADK2
Deletion
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Insertion
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NADK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NADK2
Duplication
(intron variant)
not provided
GBenign
NADK2
Single nucleotide variant
(intron variant)
not provided
GBenign
NADK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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
(N208K +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(R340Q +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(R340* +2 more)
Single nucleotide variant
(nonsense)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely pathogenic
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
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
+1 more
GBenign/Likely benign
NADK2
Duplication
(intron variant)
not provided
GBenign
NADK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NADK2
Single nucleotide variant
(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
GUncertain significance
NADK2
(N336D +2 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(V185I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
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)
not provided
GLikely benign
NADK2
Deletion
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GBenign
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
+1 more
GLikely benign
NADK2
Single nucleotide variant
(intron variant)
not provided
GBenign
NADK2
Single nucleotide variant
(intron variant)
not provided
GBenign
NADK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NADK2
Single nucleotide variant
(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
GPathogenic
NADK2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
NADK2
Single nucleotide variant
(synonymous variant)
NADK2-related disorder
GLikely benign
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
Deletion
(intron variant)
not provided
GLikely benign
NADK2
Single nucleotide variant
(intron variant)
not provided
GBenign
NADK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NADK2
Duplication
(intron variant)
not provided
GBenign
NADK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NADK2
(Y127C)
Single nucleotide variant
(missense variant +1 more)
NADK2-related disorder
GLikely benign
NADK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NADK2
Deletion
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GBenign
NADK2
(I117T +1 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
+1 more
GLikely benign
NADK2
(Q105R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NADK2
(S262fs +1 more)
Deletion
(frameshift variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(R261S +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
+1 more
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
NADK2
Single nucleotide variant
(intron variant)
not provided
GBenign
NADK2
Insertion
(intron variant)
not provided
GBenign
NADK2
Single nucleotide variant
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
Duplication
(intron variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GLikely benign
NADK2
(D259E +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(H258R +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(A94T +1 more)
Single nucleotide variant
(missense variant)
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
(R87T +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
+1 more
GUncertain significance
NADK2
(N249S +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(Q84* +1 more)
Single nucleotide variant
(nonsense)
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
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