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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HK1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
HK1
(G13D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HK1
(D21N +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK1
(S112N +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GUncertain significance
HK1
(R242W +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK1
(L273M +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK1
(R358W +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK1
(V311M +6 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HK1
(R393Q +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK1
(H446R +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK1
(R460W +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK1
(M479T +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK1
(G582R +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HK1
(D688V +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HK1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HK1
(R814H +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HK1
(T850M +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK1
(E882A +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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