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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
HK1Hemolytic anemia due to hexokinase deficiency, Neurodevelopmental disorder with visual defects and brain anomalies, Retinitis pigmentosa 79,
Charcot-Marie-Tooth disease type 4G
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, G352SNeurodevelopmental disorder with visual defects and brain anomalies, Hemolytic anemia due to hexokinase deficiency, Charcot-Marie-Tooth disease type 4G,
Retinitis pigmentosa 79, not provided
Uncertain significance
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr10:71055414
GRCh38:
Chr10:69295658
HK1L18P, L49PNeurodevelopmental disorder with visual defects and brain anomalies, Hemolytic anemia due to hexokinase deficiency, Charcot-Marie-Tooth disease type 4G,
Retinitis pigmentosa 79, not provided
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, Hemolytic anemia due to hexokinase deficiency, Retinitis pigmentosa 79,
not provided, Charcot-Marie-Tooth disease type 4G
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
HK1not provided, Hemolytic anemia due to hexokinase deficiency, Retinitis pigmentosa 79,
Neurodevelopmental disorder with visual defects and brain anomalies, Charcot-Marie-Tooth disease type 4G
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, Charcot-Marie-Tooth disease type 4G,
Hemolytic anemia due to hexokinase deficiency, not provided
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
HK1Retinitis pigmentosa 79, Neurodevelopmental disorder with visual defects and brain anomalies, not specified,
not provided, Charcot-Marie-Tooth disease type 4G, Hemolytic anemia due to hexokinase deficiency
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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