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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HK1
(R126* +5 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4G
+1 more
GConflicting classifications of pathogenicity
HK1
Single nucleotide variant
(intron variant)
Hemolytic anemia due to hexokinase deficiency
+3 more
GBenign
HK1
Single nucleotide variant
(intron variant)
Hemolytic anemia due to hexokinase deficiency
+3 more
GBenign
HK1
Single nucleotide variant
(intron variant)
Hemolytic anemia due to hexokinase deficiency
+3 more
GBenign
HK1
(R7*)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease type 4G
GPathogenic/Likely pathogenic
HK1
(A660fs +6 more)
Duplication
(frameshift variant)
not provided
+1 more
GUncertain significance
HK1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4G
+2 more
GUncertain significance
HK1
(G285S +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
HK1
(L18P +1 more)
Single nucleotide variant
(missense variant +2 more)
HK1-related disorder
+5 more
GBenign/Likely benign
HK1
(H7R)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+5 more
GBenign
HK1
(M1V)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 4G
GLikely pathogenic
HK1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
HK1
(K406E +6 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4G
+2 more
GLikely pathogenic
HK1
(G2R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4G
GUncertain significance
HK1
Single nucleotide variant
(synonymous variant +1 more)
Hemolytic anemia due to hexokinase deficiency
+5 more
GBenign
HK1
(T445M +6 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with visual defects and brain anomalies
+5 more
GConflicting classifications of pathogenicity
HK1
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with visual defects and brain anomalies
+6 more
GBenign
HK1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4G
Gnot provided
HK1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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