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Items: 1 to 100 of 156

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:53662763-53662764
GRCh38:
Chr1:53197091-53197092
CPT2P50fsCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form
Likely pathogenic
(Jan 2, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr1:53666425
GRCh38:
Chr1:53200753
CPT2R63*Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form
Likely pathogenic
(Feb 27, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr1:53662763
GRCh38:
Chr1:53197091
CPT2R51fsCarnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form
Likely pathogenic
(Jan 31, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr1:53679001
GRCh38:
Chr1:53213329
CPT2P548T, P571TCarnitine palmitoyl transferase II deficiency, severe infantile formUncertain significanceno assertion criteria provided
5.
GRCh37:
Chr1:53662630
GRCh38:
Chr1:53196958
CPT2Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyltransferase II deficiency		Likely benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:53677005
GRCh38:
Chr1:53211333
CPT2Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form		Likely benign
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:53662750
GRCh38:
Chr1:53197078
CPT2Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4		Likely benign
(May 7, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:53675866
GRCh38:
Chr1:53210194
CPT2E174QCarnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:53676722
GRCh38:
Chr1:53211050
CPT2Q459LCarnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Apr 22, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:53676470
GRCh38:
Chr1:53210798
CPT2G375VInborn genetic diseases, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyltransferase II deficiency
Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:53676659
GRCh38:
Chr1:53210987
CPT2M438TCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4		Uncertain significance
(Nov 24, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:53675723
GRCh38:
Chr1:53210051
CPT2S126CCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4		Uncertain significance
(Jul 1, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:53676491
GRCh38:
Chr1:53210819
CPT2R382TCarnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:53675957
GRCh38:
Chr1:53210285
CPT2A204Vnot provided, Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4
Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:53662653-53662654
GRCh38:
Chr1:53196981-53196982
CPT2G13fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Jul 22, 2021)		criteria provided, single submitter
16.
GRCh37:
Chr1:53662823
GRCh38:
Chr1:53197151
CPT2Carnitine palmitoyl transferase II deficiency, severe infantile form, not provided, Carnitine palmitoyl transferase II deficiency, neonatal form
Benign
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:53679244
GRCh38:
Chr1:53213572
CPT2E629K, E652KCarnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency, not provided
Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:53679039
GRCh38:
Chr1:53213367
CPT2N560K, N583KCarnitine palmitoyl transferase II deficiency, severe infantile formUncertain significance
(Feb 28, 2020)		criteria provided, single submitter
19.
GRCh37:
Chr1:53666460
GRCh38:
Chr1:53200788
CPT2Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyltransferase II deficiency		Likely benign
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:53675724
GRCh38:
Chr1:53210052
CPT2Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, neonatal form		Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:53675814
GRCh38:
Chr1:53210142
CPT2Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4,
Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form		Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:53676636
GRCh38:
Chr1:53210964
CPT2Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Encephalopathy, acute, infection-induced, susceptibility to, 4		Likely benign
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:53676426
GRCh38:
Chr1:53210754
CPT2Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4,
Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form		Likely benign
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:53666402
GRCh38:
Chr1:53200730
CPT2P55RCarnitine palmitoyltransferase II deficiency, not provided, Carnitine palmitoyl transferase II deficiency, neonatal form,
Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Encephalopathy, acute, infection-induced, susceptibility to, 4
Uncertain significance
(Apr 20, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:53662772
GRCh38:
Chr1:53197100
CPT2not provided, Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form
Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr1:53676770
GRCh38:
Chr1:53211098
CPT2F475YCarnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Nov 30, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:53676019
GRCh38:
Chr1:53210347
CPT2R225CCarnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Encephalopathy, acute, infection-induced, susceptibility to, 4,
Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Jun 14, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:53676839
GRCh38:
Chr1:53211167
CPT2R498HCarnitine palmitoyltransferase II deficiency, not specified, Encephalopathy, acute, infection-induced, susceptibility to, 4,
Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form
Uncertain significance
(Dec 31, 2021)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr1:53679140
GRCh38:
Chr1:53213468
CPT2H594R, H617RCarnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute, infection-induced, susceptibility to, 4
Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:53679190
GRCh38:
Chr1:53213518
CPT2R611W, R634WCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:53662680
GRCh38:
Chr1:53197008
CPT2S22NCarnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Mar 19, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:53676233
GRCh38:
Chr1:53210561
CPT2R296QCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form		Conflicting interpretations of pathogenicity
(Oct 5, 2022)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr1:53668001-53668002
GRCh38:
Chr1:53202329-53202330
CPT2E81fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenicno assertion criteria provided
34.
GRCh37:
Chr1:53675725
GRCh38:
Chr1:53210053
CPT2V127ICarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4,
not provided		Uncertain significance
(Nov 30, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:53676362
GRCh38:
Chr1:53210690
CPT2S339FCarnitine palmitoyltransferase II deficiency, not provided, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4
Uncertain significance
(Jul 24, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:53676535
GRCh38:
Chr1:53210863
CPT2V397Inot specified, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyltransferase II deficiency
Uncertain significance
(Dec 8, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:53679106-53679107
GRCh38:
Chr1:53213434-53213435
CPT2V583fs, V606fsCarnitine palmitoyltransferase II deficiency, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form		Pathogenic/Likely pathogenic
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:53675972
GRCh38:
Chr1:53210300
CPT2A209VCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4,
Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr1:53679056
GRCh38:
Chr1:53213384
CPT2T566M, T589MCarnitine palmitoyl transferase II deficiency, severe infantile form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, myopathic form,
Carnitine palmitoyl transferase II deficiency, neonatal form, not provided, Rhabdomyolysis,
Kidney damage, Myopathy		Uncertain significance
(Mar 23, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:53675762
GRCh38:
Chr1:53210090
CPT2P139LCarnitine palmitoyl transferase II deficiency, severe infantile formUncertain significance
(Aug 25, 2019)		no assertion criteria provided
41.
GRCh37:
Chr1:53676855
GRCh38:
Chr1:53211183
CPT2Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency		Likely benign
(Jul 5, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:53676192
GRCh38:
Chr1:53210520
CPT2Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile formConflicting interpretations of pathogenicity
(Aug 29, 2022)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr1:53662718
GRCh38:
Chr1:53197046
CPT2Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, neonatal form,
Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form		Likely benign
(Dec 1, 2021)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:53675532
GRCh38:
Chr1:53209860
CPT2not provided, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form
Benign
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:53675924
GRCh38:
Chr1:53210252
CPT2R193HCarnitine palmitoyltransferase II deficiency, not provided, Carnitine palmitoyl transferase II deficiency, neonatal form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form
Uncertain significance
(Dec 17, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:53678956-53678957
GRCh38:
Chr1:53213284-53213285
CPT2L533fs, L556fsEncephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency, not provided
Pathogenic
(Jun 24, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:53676002
GRCh38:
Chr1:53210330
CPT2R219QCarnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Feb 2, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:53676913-53676914
GRCh38:
Chr1:53211241-53211242
CPT2H523fsCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency
Pathogenic/Likely pathogenic
(Sep 26, 2021)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:53679182
GRCh38:
Chr1:53213510
CPT2R631H, R608HCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile formUncertain significance
(Jun 1, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:53676135
GRCh38:
Chr1:53210463
CPT2I263MEncephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Aug 3, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:53676775
GRCh38:
Chr1:53211103
CPT2R477WCarnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr1:53676743
GRCh38:
Chr1:53211071
CPT2V466ACarnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:53679176
GRCh38:
Chr1:53213504
CPT2P629L, P606LCarnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Encephalopathy, acute, infection-induced, susceptibility to, 4,
Carnitine palmitoyl transferase II deficiency, neonatal form, Inborn genetic diseases, Carnitine palmitoyltransferase II deficiency,
not provided		Uncertain significance
(Jan 23, 2023)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:53676949
GRCh38:
Chr1:53211277
CPT2C535RCarnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr1:53676392-53676393
GRCh38:
Chr1:53210720-53210721
CPT2N349fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(May 9, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr1:53676333-53676334
GRCh38:
Chr1:53210661-53210662
CPT2I332fsCarnitine palmitoyltransferase II deficiency, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form
Pathogenic/Likely pathogenic
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:53675952
GRCh38:
Chr1:53210280
CPT2Y202*Carnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Mar 27, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr1:53679263-53679265
GRCh38:
Chr1:53213591-53213593
CPT2Carnitine palmitoyl transferase II deficiency, severe infantile formUncertain significance
(Mar 16, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr1:53679218
GRCh38:
Chr1:53213546
CPT2Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile formPathogenic/Likely pathogenic
(Aug 12, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:53676367-53676370
GRCh38:
Chr1:53210695-53210698
CPT2N341fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Mar 14, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr1:53679222-53679223
GRCh38:
Chr1:53213550-53213551
CPT2E622fs, E645fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Mar 14, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr1:53679057
GRCh38:
Chr1:53213385
CPT2S590fs, S567fsCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile formPathogenic/Likely pathogenic
(Oct 8, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:53662652-53662654
GRCh38:
Chr1:53196980-53196982
CPT2G13delCarnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Encephalopathy, acute, infection-induced, susceptibility to, 4,
Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form
Uncertain significance
(Mar 21, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:53676908
GRCh38:
Chr1:53211236
CPT2R522fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Feb 14, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr1:53662717
GRCh38:
Chr1:53197045
CPT2Y34*Carnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Jan 9, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr1:53676224-53676225
GRCh38:
Chr1:53210552-53210553
CPT2S293fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Jan 4, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr1:53662677
GRCh38:
Chr1:53197005
CPT2P21HCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile formUncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:53662714
GRCh38:
Chr1:53197042
CPT2Q33HCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile formUncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr1:53662682-53662707
GRCh38:
Chr1:53197010-53197035
CPT2L25fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Dec 14, 2017)		criteria provided, single submitter
70.
GRCh37:
Chr1:53676805
GRCh38:
Chr1:53211133
CPT2E487KCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form
Conflicting interpretations of pathogenicity
(Oct 2, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr1:53675745-53675748
GRCh38:
Chr1:53210073-53210076
CPT2F134fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Nov 8, 2017)		criteria provided, single submitter
72.
GRCh37:
Chr1:53676721
GRCh38:
Chr1:53211049
CPT2Q459*Carnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Nov 2, 2017)		criteria provided, single submitter
73.
GRCh37:
Chr1:53676276
GRCh38:
Chr1:53210604
CPT2Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, neonatal form
Uncertain significance
(Nov 14, 2021)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:53679242
GRCh38:
Chr1:53213570
CPT2L651*, L628*Carnitine palmitoyl transferase II deficiency, severe infantile formUncertain significance
(Nov 2, 2017)		criteria provided, single submitter
75.
GRCh37:
Chr1:53676093-53676094
GRCh38:
Chr1:53210421-53210422
CPT2N250fsCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile formPathogenic/Likely pathogenic
(Sep 3, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:53676778
GRCh38:
Chr1:53211106
CPT2Q478*Carnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Oct 27, 2017)		criteria provided, single submitter
77.
GRCh37:
Chr1:53675972-53675973
GRCh38:
Chr1:53210300-53210301
CPT2P211fsCarnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiencyPathogenic/Likely pathogenic
(Mar 12, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:53676952-53676953
GRCh38:
Chr1:53211280-53211281
CPT2K537fsCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile formPathogenic/Likely pathogenic
(Jan 15, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:53675717
GRCh38:
Chr1:53210045
CPT2R124QCarnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiencyConflicting interpretations of pathogenicity
(Sep 18, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr1:53679153-53679176
GRCh38:
Chr1:53213481-53213504
CPT2Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile formUncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr1:53668063
GRCh38:
Chr1:53202391
CPT2A101fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Jul 25, 2017)		criteria provided, single submitter
82.
GRCh37:
Chr1:53676071
GRCh38:
Chr1:53210399
CPT2H242fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Jul 18, 2017)		criteria provided, single submitter
83.
GRCh37:
Chr1:53679149
GRCh38:
Chr1:53213477
CPT2W620*, W597*Carnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(Jul 17, 2017)		criteria provided, single submitter
84.
GRCh37:
Chr1:53675827
GRCh38:
Chr1:53210155
CPT2R161Wnot provided, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency
Conflicting interpretations of pathogenicity
(Aug 3, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr1:53676792-53676793
GRCh38:
Chr1:53211120-53211121
CPT2V483fsCarnitine palmitoyl transferase II deficiency, severe infantile formLikely pathogenic
(May 12, 2017)		criteria provided, single submitter
86.
GRCh37:
Chr1:53676704-53676706
GRCh38:
Chr1:53211032-53211034
CPT2E454delCarnitine palmitoyl transferase II deficiency, severe infantile formUncertain significance
(May 2, 2017)		criteria provided, single submitter
87.
GRCh37:
Chr1:53676085
GRCh38:
Chr1:53210413
CPT2R247WCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form		Uncertain significance
(Feb 18, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:53676015
GRCh38:
Chr1:53210343
CPT2T224fsCarnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiencyPathogenic/Likely pathogenic
(Nov 28, 2021)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:53675866
GRCh38:
Chr1:53210194
CPT2E174*Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiencyPathogenic/Likely pathogenic
(Dec 27, 2021)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:53676750
GRCh38:
Chr1:53211078
CPT2Q468HCarnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiencyUncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:53676851
GRCh38:
Chr1:53211179
CPT2I502TCarnitine palmitoyl transferase II deficiency, severe infantile formUncertain significance
(Nov 22, 2017)		criteria provided, single submitter
92.
GRCh37:
Chr1:53676223
GRCh38:
Chr1:53210551
CPT2S293GInborn genetic diseases, Carnitine palmitoyltransferase II deficiency, not provided,
Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr1:53676823
GRCh38:
Chr1:53211151
CPT2A493TInborn genetic diseases, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency,
not provided		Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr1:53679141
GRCh38:
Chr1:53213469
CPT2Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency		Benign/Likely benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:53675846
GRCh38:
Chr1:53210174
CPT2R167QEncephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, not provided, Carnitine palmitoyltransferase II deficiency,
Inborn genetic diseases		Conflicting interpretations of pathogenicity
(Jun 1, 2023)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr1:53679066
GRCh38:
Chr1:53213394
CPT2not specified, Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form,
Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Encephalopathy, acute, infection-induced, susceptibility to, 4
Likely benign
(Oct 29, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:53675745
GRCh38:
Chr1:53210073
CPT2Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, not provided, Carnitine palmitoyltransferase II deficiency
Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:53662713
GRCh38:
Chr1:53197041
CPT2Q33fsCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyltransferase II deficiency, not provided
Pathogenic
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr1:53676179
GRCh38:
Chr1:53210507
CPT2S278LCarnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4,
Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Jul 31, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:53675762
GRCh38:
Chr1:53210090
CPT2P139RCarnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
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