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Items: 1 to 100 of 117

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:
Chr1:53676323
GRCh38:
Chr1:53210651
CPT2C326YCarnitine palmitoyl transferase II deficiency, neonatal formUncertain significance
(Sep 1, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr1:53679002
GRCh38:
Chr1:53213330
CPT2P548R, P571RCarnitine palmitoyl transferase II deficiency, neonatal formUncertain significance
(Sep 1, 2022)		criteria provided, single submitter
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
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:
Chr1:53666460
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
19.
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
20.
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
21.
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
22.
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
23.
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
24.
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
25.
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
26.
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
27.
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
28.
GRCh37:
Chr1:53668012
GRCh38:
Chr1:53202340
CPT2C84YCarnitine palmitoyl transferase II deficiency, neonatal formLikely pathogenic
(Feb 1, 2020)		criteria provided, single submitter
29.
GRCh37:
Chr1:53676805
GRCh38:
Chr1:53211133
CPT2E487*Carnitine palmitoyl transferase II deficiency, neonatal formPathogenic
(Feb 1, 2020)		criteria provided, single submitter
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:
Chr1:53676209
GRCh38:
Chr1:53210537
CPT2L288fsCarnitine palmitoyl transferase II deficiency, neonatal formnot providedno assertion 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:
Chr1:53676379
GRCh38:
Chr1:53210707
CPT2G345RCarnitine palmitoyl transferase II deficiency, neonatal formLikely pathogenic
(May 10, 2019)		criteria provided, single submitter
39.
GRCh37:
Chr1:53676110
GRCh38:
Chr1:53210438
CPT2D255GCarnitine palmitoyl transferase II deficiency, neonatal formLikely pathogenic
(May 10, 2019)		criteria provided, single submitter
40.
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
41.
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
42.
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
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:
Chr1:53676135
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
50.
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
51.
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
52.
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
53.
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
54.
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
55.
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
56.
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
57.
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
58.
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
59.
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
60.
GRCh37:
Chr1:53676794
GRCh38:
Chr1:53211122
CPT2V483AEncephalopathy, 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, Inborn genetic diseases, not provided,
Carnitine palmitoyltransferase II deficiency		Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
61.
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
62.
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
63.
GRCh37:
Chr1:53676782
GRCh38:
Chr1:53211110
CPT2Y479FCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency, not specified,
not provided, Genu valgum, Myopathic facies,
Generalized hypotonia, Pes planus, Hyperextensibility of the finger joints,
Hyperextensibility at elbow, Hyperextensible hand joints ...see more		Conflicting interpretations of pathogenicity
(Aug 20, 2022)		criteria provided, conflicting interpretations
64.
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
65.
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
66.
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
67.
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
68.
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
69.
GRCh37:
Chr1:53679262
GRCh38:
Chr1:53213590
CPT2S658R, S635RCarnitine palmitoyltransferase II deficiency, Carnitine 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		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:53679096
GRCh38:
Chr1:53213424
CPT2Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form, not provided,
not specified		Conflicting interpretations of pathogenicity
(Jan 1, 2023)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr1:53678969
GRCh38:
Chr1:53213297
CPT2R560Q, R537QCarnitine 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,
Carnitine palmitoyl transferase II deficiency, severe infantile form		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:53676784
GRCh38:
Chr1:53211112
CPT2G480RCarnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form, not specified,
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
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:53676371
GRCh38:
Chr1:53210699
CPT2M342TCarnitine 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, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, not provided		Conflicting interpretations of pathogenicity
(Apr 2, 2023)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr1:53676267
GRCh38:
Chr1:53210595
CPT2M307ICarnitine 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, not provided
Uncertain significance
(Jul 29, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:53676194
GRCh38:
Chr1:53210522
CPT2E285fsCarnitine 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/Likely pathogenic
(Apr 5, 2023)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:53676399
GRCh38:
Chr1:53210727
CPT2W351*Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form
Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
77.
GRCh37:
Chr1:53676691
GRCh38:
Chr1:53211019
CPT2Q449*Carnitine palmitoyltransferase II deficiency, 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
(Oct 16, 2018)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:53676960
GRCh38:
Chr1:53211288
CPT2Y538*Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form
Likely pathogenic
(Aug 9, 2016)		criteria provided, single submitter
79.
GRCh37:
Chr1:53676389-53676390
GRCh38:
Chr1:53210717-53210718
CPT2N349fsCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form
Likely pathogenic
(Jul 29, 2016)		criteria provided, single submitter
80.
GRCh37:
Chr1:53662666-53662667
GRCh38:
Chr1:53196994-53196995
CPT2L25fsCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form
Likely pathogenic
(Jul 18, 2016)		criteria provided, single submitter
81.
GRCh37:
Chr1:53676703-53676706
GRCh38:
Chr1:53211031-53211034
CPT2K453fsCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form
Likely pathogenic
(Jun 28, 2016)		criteria provided, single submitter
82.
GRCh37:
Chr1:53676760
GRCh38:
Chr1:53211088
CPT2Q472*Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, myopathic form,
Carnitine palmitoyl transferase II deficiency, severe infantile form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, neonatal form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form		Pathogenic/Likely pathogenic
(May 22, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:53675952
GRCh38:
Chr1:53210280
CPT2Y202*Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form
Likely pathogenic
(May 9, 2016)		criteria provided, single submitter
84.
GRCh37:
Chr1:53662709
GRCh38:
Chr1:53197037
CPT2G32fsCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form
Likely pathogenic
(May 3, 2016)		criteria provided, single submitter
85.
GRCh37:
Chr1:53662690
GRCh38:
Chr1:53197018
CPT2S26fsCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, myopathic form,
Carnitine palmitoyl transferase II deficiency, severe infantile form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, neonatal form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form		Pathogenic/Likely pathogenic
(Oct 4, 2021)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:53676691
GRCh38:
Chr1:53211019
CPT2Q449*Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
not provided		Pathogenic/Likely pathogenic
(Jan 1, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr1:53676891-53676894
GRCh38:
Chr1:53211219-53211222
CPT2F516fsCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form
Likely pathogenic
(Feb 22, 2016)		criteria provided, single submitter
88.
GRCh37:
Chr1:53676993
GRCh38:
Chr1:53211321
CPT2Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form
Likely pathogenic
(Feb 16, 2016)		criteria provided, single submitter
89.
GRCh37:
Chr1:53679064-53679065
GRCh38:
Chr1:53213392-53213393
CPT2L592fs, L569fsCarnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form
Likely pathogenic
(Feb 12, 2016)		criteria provided, single submitter
90.
GRCh37:
Chr1:53662722-53662723
GRCh38:
Chr1:53197050-53197051
CPT2S38fsCarnitine 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		Pathogenic/Likely pathogenic
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:53676924
GRCh38:
Chr1:53211252
CPT2Carnitine palmitoyltransferase II deficiency, not specified, 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,
not provided		Benign/Likely benign
(Aug 1, 2023)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:53662334
GRCh38:
Chr1:53196662
CPT2Carnitine 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
(Dec 14, 2021)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:53676199
GRCh38:
Chr1:53210527
CPT2E285KCarnitine 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
Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:53675716
GRCh38:
Chr1:53210044
CPT2R124*Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, 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,
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 ...see more		Pathogenic/Likely pathogenic
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:53676020
GRCh38:
Chr1:53210348
CPT2R225HCarnitine 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 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
(Jul 20, 2022)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr1:53676715
GRCh38:
Chr1:53211043
CPT2K457*Carnitine 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, not provided,
Carnitine palmitoyl transferase II deficiency, severe infantile form		Pathogenic/Likely pathogenic
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:53676299
GRCh38:
Chr1:53210627
CPT2V318GCarnitine palmitoyltransferase II deficiency, not provided, 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
(Apr 30, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:53676232
GRCh38:
Chr1:53210560
CPT2R296*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, Carnitine palmitoyl transferase II deficiency, severe infantile form, not provided,
Carnitine palmitoyltransferase II deficiency		Pathogenic/Likely pathogenic
(Jun 19, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr1:53675798
GRCh38:
Chr1:53210126
CPT2R151QEncephalopathy, 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/Likely pathogenic
(May 11, 2023)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:53675880-53675904
GRCh38:
Chr1:53210208-53210232
CPT2Carnitine palmitoyltransferase II deficiency, not providedConflicting interpretations of pathogenicity
(Nov 16, 2018)		criteria provided, conflicting interpretations
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