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Items: 1 to 100 of 354

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
PRKAG2, PRKAG2-AS1
+1052 more
Copy number gain
See cases
GPathogenic
LOC129389895, LOC129389896
+1046 more
Copy number gain
See cases
GPathogenic
TRBV27, TRBV28
+1025 more
Copy number gain
See cases
GPathogenic
OR2A2, OR2A25
+1025 more
Copy number gain
See cases
GPathogenic
TRC-GCA9-3, TRC-GCA9-4
+1019 more
Copy number gain
See cases
GPathogenic
LOC129999635, LOC129999636
+944 more
Copy number loss
See cases
GPathogenic
TRBC2, TRBD1
+455 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+908 more
Copy number gain
See cases
GPathogenic
EPHA1-AS1, EPHB6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
LOC129999716, LOC129999717
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
TRBC1, TRBC2
+230 more
Copy number gain
See cases
GUncertain significance
ABCB8, ABCF2
+737 more
Copy number loss
See cases
GPathogenic
AGK, AGK-DT
+192 more
Copy number gain
See cases
GPathogenic
LOC129999721, LOC129999722
+707 more
Copy number loss
See cases
GPathogenic
ACTR3C, ARHGEF35
+172 more
Copy number gain
See cases
GLikely pathogenic
LOC129999681, LOC129999682
+573 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+358 more
Copy number loss
See cases
GPathogenic
TPK1
(M234V +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(L231V +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(L118P +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(P128Q +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
TPK1
(P117S +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
Single nucleotide variant
(synonymous variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
(V226D +4 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
TPK1
(V109I +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TPK1
Single nucleotide variant
(synonymous variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(synonymous variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Microsatellite
(inframe_insertion +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(G106R +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(G223W +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TPK1
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GLikely benign
TPK1
(D217N +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(D222H +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
+1 more
GPathogenic/Likely pathogenic
TPK1
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign/Likely benign
TPK1
(Y104C +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
Single nucleotide variant
(synonymous variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
(N219S +4 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TPK1
(S216N +4 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TPK1
Single nucleotide variant
(synonymous variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(synonymous variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(synonymous variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(synonymous variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(synonymous variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(synonymous variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
+1 more
GLikely benign
TPK1
(D101V +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
+1 more
GUncertain significance
TPK1
(T88I +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
Single nucleotide variant
(splice acceptor variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GPathogenic
TPK1
Single nucleotide variant
(intron variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Deletion
(intron variant)
not provided
+1 more
GBenign/Likely benign
TPK1
Single nucleotide variant
(intron variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(intron variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(intron variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(intron variant)
not provided
GBenign
TPK1
Single nucleotide variant
(intron variant)
not provided
GBenign
TPK1
Single nucleotide variant
(intron variant)
TPK1-related disorder
GLikely benign
TPK1
(A239V)
Single nucleotide variant
(missense variant +2 more)
TPK1-related disorder
GBenign
TPK1
Single nucleotide variant
(synonymous variant +2 more)
TPK1-related disorder
GLikely benign
TPK1
Single nucleotide variant
(intron variant)
not provided
GBenign
TPK1
Single nucleotide variant
(intron variant)
not provided
GBenign
TPK1
Insertion
(intron variant)
not provided
GBenign
TPK1
Deletion
(intron variant)
not provided
GBenign
TPK1
Deletion
(intron variant)
not provided
GBenign
TPK1
Single nucleotide variant
(splice donor variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GPathogenic
TPK1
(T149I +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(C192W +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely pathogenic
TPK1
(C143Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(G83E +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(G184* +4 more)
Single nucleotide variant
(nonsense +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GPathogenic
TPK1
Single nucleotide variant
(synonymous variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
(V139F +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(V188L +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(P187S +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
Single nucleotide variant
(synonymous variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(synonymous variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
(W133C +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(G175S +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(E130Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
+1 more
GUncertain significance
TPK1
(M173L +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(G71V +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TPK1
(H173fs +4 more)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
TPK1
(H124P +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(R54T +4 more)
Single nucleotide variant
(missense variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
(H170Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TPK1
Single nucleotide variant
(synonymous variant +1 more)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(intron variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GUncertain significance
TPK1
Single nucleotide variant
(intron variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPK1
Deletion
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely pathogenic
TPK1
Single nucleotide variant
(intron variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(intron variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(intron variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
TPK1
Single nucleotide variant
(intron variant)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
GLikely benign
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