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Items: 1 to 100 of 390

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
HADHBMitochondrial trifunctional protein deficiencyPathogenic
(Aug 1, 1997)
no assertion criteria providedVCV000014848
2.
PTGER2Asthma, aspirin-induced, susceptibility torisk factor
(Dec 15, 2004)
no assertion criteria providedVCV000013360
3.
HADHAMitochondrial trifunctional protein deficiencyPathogenic
(Jul 1, 1997)
no assertion criteria providedVCV000008733
4.
TBX21Asthma, aspirin-induced, susceptibility to, Asthma and nasal polypsPathogenic, risk factor
(Jun 1, 2005)
no assertion criteria providedVCV000005321
5.
GRCh37:
Chr2:10588138
GRCh38:
Chr2:10448012
ODC1Colonic adenoma recurrence, reduced risk ofprotective
(Oct 28, 2012)
no assertion criteria providedVCV000013806
6.
GRCh37:
Chr2:26413609
GRCh38:
Chr2:26190740
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000335363
7.
GRCh37:
Chr2:26413625
GRCh38:
Chr2:26190756
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335364
8.
GRCh37:
Chr2:26413630
GRCh38:
Chr2:26190761
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335365
9.
GRCh37:
Chr2:26413654-26413655
GRCh38:
Chr2:26190785-26190786
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335366
10.
GRCh37:
Chr2:26413714
GRCh38:
Chr2:26190845
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335367
11.
GRCh37:
Chr2:26413730
GRCh38:
Chr2:26190861
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335368
12.
GRCh37:
Chr2:26413743-26413744
GRCh38:
Chr2:26190874-26190875
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335369
13.
GRCh37:
Chr2:26413764
GRCh38:
Chr2:26190895
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335370
14.
GRCh37:
Chr2:26413817
GRCh38:
Chr2:26190948
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000335371
15.
GRCh37:
Chr2:26413917
GRCh38:
Chr2:26191048
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000335372
16.
GRCh37:
Chr2:26414196
GRCh38:
Chr2:26191327
HADHA, GAREM2A739SMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyUncertain significance
(Dec 31, 2018)
criteria provided, single submitterVCV000657134
17.
GRCh37:
Chr2:26414272
GRCh38:
Chr2:26191403
GAREM2, HADHALCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335373
18.
GRCh37:
Chr2:26414367
GRCh38:
Chr2:26191498
HADHA, GAREM2P711SMitochondrial trifunctional protein deficiencyLikely pathogenic
(Dec 18, 2017)
criteria provided, single submitterVCV000522963
19.
GRCh37:
Chr2:26414385
GRCh38:
Chr2:26191516
HADHA, GAREM2V705ILCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335374
20.
GRCh37:
Chr2:26415178
GRCh38:
Chr2:26192309
HADHA, GAREM2Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Pathogenic/Likely pathogenic
(Apr 2, 2018)
criteria provided, multiple submitters, no conflictsVCV000554318
21.
GRCh37:
Chr2:26415198
GRCh38:
Chr2:26192329
HADHA, GAREM2Mitochondrial trifunctional protein deficiency, not specified, not provided,
Mitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, LCHAD Deficiency
Conflicting interpretations of pathogenicity
(Aug 30, 2018)
criteria provided, conflicting interpretationsVCV000092595
22.
GRCh37:
Chr2:26415267
GRCh38:
Chr2:26192398
HADHA, GAREM2I638VLCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335375
23.
GRCh37:
Chr2:26416502
GRCh38:
Chr2:26193633
HADHA, GAREM2R610QLCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335376
24.
GRCh37:
Chr2:26416537
GRCh38:
Chr2:26193668
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335377
25.
GRCh37:
Chr2:26416559
GRCh38:
Chr2:26193690
HADHA, GAREM2V591GMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyUncertain significance
(Dec 21, 2018)
criteria provided, single submitterVCV000659825
26.
GRCh37:
Chr2:26416647
GRCh38:
Chr2:26193778
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiency, not specified
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000203739
27.
GRCh37:
Chr2:26416654
GRCh38:
Chr2:26193785
GAREM2, HADHALCHAD Deficiency, Mitochondrial trifunctional protein deficiency, not specified
Conflicting interpretations of pathogenicity
(May 15, 2017)
criteria provided, conflicting interpretationsVCV000335378
28.
GRCh37:
Chr2:26416655
GRCh38:
Chr2:26193786
HADHA, GAREM2LCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335379
29.
GRCh37:
Chr2:26417450
GRCh38:
Chr2:26194581
HADHA, GAREM2R524*, R560*Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
Pathogenic
(Aug 27, 2018)
criteria provided, single submitterVCV000008732
30.
GRCh37:
Chr2:26417473
GRCh38:
Chr2:26194604
HADHA, GAREM2A552VLCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335380
31.
GRCh37:
Chr2:26417484
GRCh38:
Chr2:26194616
HADHA, GAREM2R549fsMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyPathogenic
(Dec 27, 2018)
criteria provided, single submitterVCV000651987
32.
GRCh37:
Chr2:26417950
GRCh38:
Chr2:26195081
HADHA, GAREM2LCHAD Deficiency, not specified, Mitochondrial trifunctional protein deficiency
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000137531
33.
GRCh37:
Chr2:26418053
GRCh38:
Chr2:26195184
HADHA, GAREM2E510QLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Lchad deficiency with maternal acute fatty liver of pregnancy, Mitochondrial trifunctional protein deficiency,
HADHA-Related Disorders, Mitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency,
LCHAD Deficiency, Inborn genetic diseases, not provided
Pathogenic
(Dec 21, 2018)
criteria provided, multiple submitters, no conflictsVCV000100085
34.
GRCh37:
Chr2:26420574
GRCh38:
Chr2:26197705
HADHA, GAREM2K489Enot provided, Mitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Uncertain significance
(Dec 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000495725
35.
GRCh37:
Chr2:26424008
GRCh38:
Chr2:26201139
HADHA, GAREM2Mitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, LCHAD Deficiency,
Mitochondrial trifunctional protein deficiency, not specified
Benign/Likely benign
(Nov 9, 2017)
criteria provided, multiple submitters, no conflictsVCV000203738
36.
GRCh37:
Chr2:26426939
GRCh38:
Chr2:26204070
HADHALCHAD Deficiency, Mitochondrial trifunctional protein deficiency, not specified,
not provided
Conflicting interpretations of pathogenicity
(Jan 29, 2018)
criteria provided, conflicting interpretationsVCV000335381
37.
GRCh37:
Chr2:26426955
GRCh38:
Chr2:26204086
HADHAR399QMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyUncertain significance
(Jun 28, 2018)
criteria provided, single submitterVCV000570488
38.
GRCh37:
Chr2:26427019
GRCh38:
Chr2:26204150
HADHAQ342*, Q378*Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiencyLikely pathogenic
(Jan 31, 2017)
criteria provided, single submitterVCV000008729
39.
GRCh37:
Chr2:26427059-26427068
GRCh38:
Chr2:26204190-26204199
HADHAMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Pathogenic/Likely pathogenic
(Dec 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000370400
40.
GRCh37:
Chr2:26432662
GRCh38:
Chr2:26209793
HADHAQ358KMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, LCHAD Deficiency,
Mitochondrial trifunctional protein deficiency, not specified, not provided
Benign/Likely benign
(Jul 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000235806
41.
GRCh37:
Chr2:26432709
GRCh38:
Chr2:26209840
HADHAL342PMitochondrial trifunctional protein deficiencyPathogenic
(Jul 1, 1997)
no assertion criteria providedVCV000008734
42.
GRCh37:
Chr2:26435482
GRCh38:
Chr2:26212613
HADHAG311ALCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335382
43.
GRCh37:
Chr2:26437316
GRCh38:
Chr2:26214447
HADHAI269N, I305NLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, not provided,
Mitochondrial trifunctional protein deficiency
Conflicting interpretations of pathogenicity
(Oct 25, 2018)
criteria provided, conflicting interpretationsVCV000008736
44.
GRCh37:
Chr2:26437359
GRCh38:
Chr2:26214490
HADHAR255*, R291*Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency,
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Pathogenic
(Dec 21, 2018)
criteria provided, multiple submitters, no conflictsVCV000008737
45.
GRCh37:
Chr2:26437372
GRCh38:
Chr2:26214503
HADHALCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335383
46.
GRCh37:
Chr2:26437385
GRCh38:
Chr2:26214516
HADHAV246D, V282DMitochondrial trifunctional protein deficiencyPathogenic
(Sep 15, 1998)
no assertion criteria providedVCV000008735
47.
GRCh37:
Chr2:26437421
GRCh38:
Chr2:26214552
HADHAA270VLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Aug 28, 2018)
criteria provided, single submitterVCV000468768
48.
GRCh37:
Chr2:26437422
GRCh38:
Chr2:26214553
HADHAA270TLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Dec 21, 2018)
criteria provided, single submitterVCV000665682
49.
GRCh37:
Chr2:26438047
GRCh38:
Chr2:26215178
HADHAMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyUncertain significance
(Dec 19, 2018)
criteria provided, single submitterVCV000653490
50.
GRCh37:
Chr2:26453054
GRCh38:
Chr2:26230186
HADHALCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335384
51.
GRCh37:
Chr2:26453084
GRCh38:
Chr2:26230216
HADHAV218LMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyUncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000570809
52.
GRCh37:
Chr2:26453124
GRCh38:
Chr2:26230256
HADHAMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyPathogenic
(Oct 30, 2018)
criteria provided, single submitterVCV000638987
53.
GRCh37:
Chr2:26453147
GRCh38:
Chr2:26230279
HADHAA197Snot provided, Mitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Conflicting interpretations of pathogenicity
(May 3, 2018)
criteria provided, conflicting interpretationsVCV000536659
54.
GRCh37:
Chr2:26453151
GRCh38:
Chr2:26230283
HADHALCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335385
55.
GRCh37:
Chr2:26455020
GRCh38:
Chr2:26232152
HADHAMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, not specified
Benign
(Jul 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000203737
56.
GRCh37:
Chr2:26455041
GRCh38:
Chr2:26232173
HADHAR187TLCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335386
57.
GRCh37:
Chr2:26455127
GRCh38:
Chr2:26232259
HADHAMitochondrial trifunctional protein deficiency, not specified, LCHAD Deficiency
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000092596
58.
GRCh37:
Chr2:26455160
GRCh38:
Chr2:26232292
HADHALCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335387
59.
GRCh37:
Chr2:26457084
GRCh38:
Chr2:26234216
HADHAMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Likely pathogenic
(Dec 18, 2018)
criteria provided, multiple submitters, no conflictsVCV000370347
60.
GRCh37:
Chr2:26457113
GRCh38:
Chr2:26234245
HADHAN142SLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Aug 15, 2018)
criteria provided, single submitterVCV000641541
61.
GRCh37:
Chr2:26457213
GRCh38:
Chr2:26234345
HADHAA109TMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyUncertain significance
(Oct 8, 2018)
criteria provided, single submitterVCV000646417
62.
GRCh37:
Chr2:26459773
GRCh38:
Chr2:26236905
HADHAMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyLikely benign
(Nov 24, 2017)
criteria provided, single submitterVCV000536661
63.
GRCh37:
Chr2:26461799
GRCh38:
Chr2:26238931
HADHALong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, not provided,
Mitochondrial trifunctional protein deficiency
Pathogenic
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000008731
64.
GRCh37:
Chr2:26461801
GRCh38:
Chr2:26238933
HADHALong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiencyLikely pathogenic
(Feb 8, 2017)
criteria provided, single submitterVCV000008730
65.
GRCh37:
Chr2:26462000
GRCh38:
Chr2:26239132
HADHAR27CLCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335388
66.
GRCh37:
Chr2:26462021
GRCh38:
Chr2:26239153
HADHALCHAD Deficiency, Mitochondrial trifunctional protein deficiency, not specified,
Mitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Conflicting interpretations of pathogenicity
(Mar 5, 2018)
criteria provided, conflicting interpretationsVCV000335389
67.
GRCh37:
Chr2:26467441-26467459
GRCh38:
Chr2:26244573-26244591
HADHAMitochondrial trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyPathogenic
(Mar 9, 2018)
criteria provided, single submitterVCV000579792
68.
GRCh37:
Chr2:26467449
GRCh38:
Chr2:26244581
HADHAA6PLCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335390
69.
GRCh37:
Chr2:26467501
GRCh38:
Chr2:26244633
HADHALCHAD Deficiency, Mitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335391
70.
GRCh37:
Chr2:26467632
GRCh38:
Chr2:26244764
HADHBMitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335392
71.
GRCh37:
Chr2:26467653
GRCh38:
Chr2:26244785
HADHA, HADHBLCHAD Deficiency, Mitochondrial trifunctional protein deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000335393
72.
GRCh37:
Chr2:26467665
GRCh38:
Chr2:26244797
HADHBMitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335394
73.
GRCh37:
Chr2:26467666
GRCh38:
Chr2:26244798
HADHA, HADHBLCHAD Deficiency, Mitochondrial trifunctional protein deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000335395
74.
GRCh37:
Chr2:26467682
GRCh38:
Chr2:26244814
HADHA, HADHBLCHAD Deficiency, Mitochondrial trifunctional protein deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000335396
75.
GRCh37:
Chr2:26467691
GRCh38:
Chr2:26244823
HADHBMitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335397
76.
GRCh37:
Chr2:26467694
GRCh38:
Chr2:26244826
HADHBMitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335398
77.
GRCh37:
Chr2:26467743
GRCh38:
Chr2:26244875
HADHBMitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335399
78.
GRCh37:
Chr2:26467869
GRCh38:
Chr2:26245001
HADHBMitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335400
79.
GRCh37:
Chr2:26477127-26477129
GRCh38:
Chr2:26254259-26254261
HADHBMitochondrial trifunctional protein deficiency, not specified, not provided
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000092600
80.
GRCh37:
Chr2:26477197
GRCh38:
Chr2:26254329
HADHBMitochondrial trifunctional protein deficiency, not specifiedConflicting interpretations of pathogenicity
(Feb 22, 2018)
criteria provided, conflicting interpretationsVCV000335401
81.
GRCh37:
Chr2:26486273
GRCh38:
Chr2:26263405
HADHBMitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335402
82.
GRCh37:
Chr2:26486320
GRCh38:
Chr2:26263452
HADHBR61H, R39HMitochondrial trifunctional protein deficiency, not providedLikely pathogenic
(Oct 5, 2017)
criteria provided, single submitterVCV000014845
83.
GRCh37:
Chr2:26486348
GRCh38:
Chr2:26263480
HADHBMitochondrial trifunctional protein deficiencyLikely pathogenic
(Mar 18, 2016)
criteria provided, single submitterVCV000225385
84.
GRCh37:
Chr2:26492816
GRCh38:
Chr2:26269948
HADHBMitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335403
85.
GRCh37:
Chr2:26492857
GRCh38:
Chr2:26269989
HADHBMitochondrial trifunctional protein deficiency, not specified, not provided
Conflicting interpretations of pathogenicity
(Feb 6, 2018)
criteria provided, conflicting interpretationsVCV000092599
86.
GRCh37:
Chr2:26492866
GRCh38:
Chr2:26269998
HADHBnot provided, Mitochondrial trifunctional protein deficiencyPathogenic
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000431987
87.
GRCh37:
Chr2:26492873
GRCh38:
Chr2:26270005
HADHBMitochondrial trifunctional protein deficiency, not specifiedLikely benign
(Feb 26, 2018)
criteria provided, multiple submitters, no conflictsVCV000468766
88.
GRCh37:
Chr2:26496530
GRCh38:
Chr2:26273662
HADHBH89R, H67R, H74RMitochondrial trifunctional protein deficiencyUncertain significance
(Aug 30, 2017)
criteria provided, single submitterVCV000536657
89.
GRCh37:
Chr2:26496536
GRCh38:
Chr2:26273668
HADHBT91I, T69I, T76IMitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335404
90.
GRCh37:
Chr2:26499943
GRCh38:
Chr2:26277075
HADHBMitochondrial trifunctional protein deficiencyPathogenic
(Aug 16, 2016)
no assertion criteria providedVCV000253049
91.
GRCh37:
Chr2:26499948
GRCh38:
Chr2:26277080
HADHBL121P, L99P, L106PMitochondrial trifunctional protein deficiencyUncertain significance
(Apr 30, 2018)
criteria provided, single submitterVCV000567723
92.
GRCh37:
Chr2:26499983
GRCh38:
Chr2:26277115
HADHBT133A, T118A, T111Anot provided, Mitochondrial trifunctional protein deficiencyUncertain significance
(Sep 26, 2018)
criteria provided, multiple submitters, no conflictsVCV000235337
93.
GRCh37:
Chr2:26500009
GRCh38:
Chr2:26277141
HADHBMitochondrial trifunctional protein deficiencyLikely benign
(Sep 20, 2017)
criteria provided, single submitterVCV000536658
94.
GRCh37:
Chr2:26501530
GRCh38:
Chr2:26278662
HADHBG164D, G149D, G142DMitochondrial trifunctional protein deficiencyUncertain significance
(Jan 4, 2018)
no assertion criteria providedVCV000599062
95.
GRCh37:
Chr2:26501599
GRCh38:
Chr2:26278731
HADHBN187S, N165S, N172SMitochondrial trifunctional protein deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000335405
96.
GRCh37:
Chr2:26501604
GRCh38:
Chr2:26278736
HADHBA189T, A174T, A167TMitochondrial trifunctional protein deficiency, not specifiedUncertain significance
(Nov 2, 2018)
criteria provided, multiple submitters, no conflictsVCV000424236
97.
GRCh37:
Chr2:26501623
GRCh38:
Chr2:26278755
HADHBR195Q, R180Q, R173QMitochondrial trifunctional protein deficiencyUncertain significance
(Jan 16, 2018)
criteria provided, single submitterVCV000468767
98.
GRCh37:
Chr2:26502001
GRCh38:
Chr2:26279133
HADHBMitochondrial trifunctional protein deficiencyLikely pathogenic
(Sep 26, 2018)
criteria provided, single submitterVCV000643838
99.
GRCh37:
Chr2:26502057
GRCh38:
Chr2:26279189
HADHBR229*, R214*, R207*Mitochondrial trifunctional protein deficiencyPathogenic
(Jun 28, 2017)
criteria provided, single submitterVCV000579455
100.
GRCh37:
Chr2:26502066
GRCh38:
Chr2:26279198
HADHBA232T, A210T, A217TMitochondrial trifunctional protein deficiencyUncertain significance
(Aug 7, 2018)
criteria provided, single submitterVCV000587640
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