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Links from MedGen

Items: 19

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:71119697
GRCh38:
Chr10:69359941
HK1R126*, R63*, R79*, R90*, R91*, R95*Charcot-Marie-Tooth disease type 4G, not providedConflicting interpretations of pathogenicity
(May 27, 2022)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr10:71152091
GRCh38:
Chr10:69392335
HK1Neurodevelopmental disorder with visual defects and brain anomalies, Hemolytic anemia due to hexokinase deficiency, Retinitis pigmentosa 79,
Charcot-Marie-Tooth disease type 4G
Benign
(Aug 10, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr10:71144702
GRCh38:
Chr10:69384946
HK1Neurodevelopmental disorder with visual defects and brain anomalies, Hemolytic anemia due to hexokinase deficiency, Retinitis pigmentosa 79,
Charcot-Marie-Tooth disease type 4G
Benign
(Aug 10, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr10:71055459
GRCh38:
Chr10:69295703
HK1Retinitis pigmentosa 79, Charcot-Marie-Tooth disease type 4G, Neurodevelopmental disorder with visual defects and brain anomalies,
Hemolytic anemia due to hexokinase deficiency
Benign
(Aug 10, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr10:71048518
GRCh38:
Chr10:69288762
HK1R7*Charcot-Marie-Tooth disease type 4GPathogenic/Likely pathogenic
(Nov 1, 2020)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr10:71146108-71146109
GRCh38:
Chr10:69386352-69386353
HK1A660fs, A593fs, A597fs, A624fs, A629fs, A613fs, A625fsnot provided, Charcot-Marie-Tooth disease type 4GUncertain significance
(Sep 13, 2021)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr10:71144549
GRCh38:
Chr10:69384793
HK1not provided, Charcot-Marie-Tooth disease type 4G, Neurodevelopmental disorder with visual defects and brain anomalies
Uncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr10:71136763
GRCh38:
Chr10:69377007
HK1G285S, G289S, G305S, G316S, G317S, G321S, G352Snot provided, Charcot-Marie-Tooth disease type 4G, Hemolytic anemia due to hexokinase deficiency,
Retinitis pigmentosa 79, Neurodevelopmental disorder with visual defects and brain anomalies
Uncertain significance
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr10:71055414
GRCh38:
Chr10:69295658
HK1L18P, L49Pnot provided, Charcot-Marie-Tooth disease type 4G, Hemolytic anemia due to hexokinase deficiency,
Retinitis pigmentosa 79, Neurodevelopmental disorder with visual defects and brain anomalies
Likely benign
(Oct 8, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr10:71060610
GRCh38:
Chr10:69300854
HK1H7RNeurodevelopmental disorder with visual defects and brain anomalies, not provided, Retinitis pigmentosa 79,
Charcot-Marie-Tooth disease type 4G, Hemolytic anemia due to hexokinase deficiency
Benign
(Nov 28, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr10:71048500
GRCh38:
Chr10:69288744
HK1M1VCharcot-Marie-Tooth disease type 4GLikely pathogenic
(May 28, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr10:71136851
GRCh38:
Chr10:69377095
HK1Charcot-Marie-Tooth disease type 4G, Hemolytic anemia due to hexokinase deficiency, Neurodevelopmental disorder with visual defects and brain anomalies,
Retinitis pigmentosa 79, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr10:71139838
GRCh38:
Chr10:69380082
HK1K406E, K418E, K386E, K422E, K417E, K390E, K453ECharcot-Marie-Tooth disease type 4G, Neurodevelopmental abnormality, Neurodevelopmental disorder with visual defects and brain anomalies
Likely pathogenic
(Nov 27, 2018)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr10:71048503
GRCh38:
Chr10:69288747
HK1G2RCharcot-Marie-Tooth disease type 4GUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr10:71103597
GRCh38:
Chr10:69343841
HK1Retinitis pigmentosa 79, Neurodevelopmental disorder with visual defects and brain anomalies, not provided,
Charcot-Marie-Tooth disease type 4G, Hemolytic anemia due to hexokinase deficiency
Benign
(Nov 28, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr10:71142347
GRCh38:
Chr10:69382591
HK1T445M, T457M, T456M, T429M, T461M, T425M, T492MInborn genetic diseases, Neurodevelopmental disorder with visual defects and brain anomalies, Charcot-Marie-Tooth disease type 4G,
Hemolytic anemia due to hexokinase deficiency, Retinitis pigmentosa 79, not provided
Conflicting interpretations of pathogenicity
(Dec 20, 2022)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr10:71142420
GRCh38:
Chr10:69382664
HK1Neurodevelopmental disorder with visual defects and brain anomalies, Hemolytic anemia due to hexokinase deficiency, Charcot-Marie-Tooth disease type 4G,
not provided, Retinitis pigmentosa 79, not specified
Benign
(Nov 28, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr10:71038447
GRCh38:
Chr10:69278691
HK1Charcot-Marie-Tooth disease type 4Gnot providedno assertion provided
19.
GRCh37:
Chr10:71038467
GRCh38:
Chr10:69278711
HK1not provided, Hemolytic anemia due to hexokinase deficiencyConflicting interpretations of pathogenicity
(May 4, 2022)
criteria provided, conflicting interpretations
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