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Links from MedGen

Items: 1 to 100 of 976

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:66638261
GRCh38:
Chr11:66870790
PCE246KPyruvate carboxylase deficiencyLikely pathogenic
(May 8, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr11:66638674
GRCh38:
Chr11:66871203
PCPyruvate carboxylase deficiencyUncertain significance
(Jun 30, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr11:66617804
GRCh38:
Chr11:66850333
PCG869SPyruvate carboxylase deficiencyUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr11:66617771
GRCh38:
Chr11:66850300
PCS880GPyruvate carboxylase deficiencyUncertain significance
(May 31, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr11:66618507
GRCh38:
Chr11:66851036
PCPyruvate carboxylase deficiencyUncertain significance
(Feb 15, 2019)
criteria provided, single submitter
6.
GRCh37:
Chr11:66633748-66633750
GRCh38:
Chr11:66866277-66866279
PCE365delPyruvate carboxylase deficiencyUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr11:66618734
GRCh38:
Chr11:66851263
PCK667RPyruvate carboxylase deficiencyUncertain significance
(Sep 21, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr11:66639319
GRCh38:
Chr11:66871848
PCR54WPyruvate carboxylase deficiencyUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr11:66617221
GRCh38:
Chr11:66849750
PCT1003fsPyruvate carboxylase deficiencyPathogenic
(Jun 10, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr11:66620201
GRCh38:
Chr11:66852730
PCPyruvate carboxylase deficiencyLikely benign
(Sep 9, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr11:66638367
GRCh38:
Chr11:66870896
PCPyruvate carboxylase deficiencyLikely benign
(Apr 4, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr11:66639323
GRCh38:
Chr11:66871852
PCPyruvate carboxylase deficiencyLikely benign
(Jan 11, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:66617240
GRCh38:
Chr11:66849769
PCR997WPyruvate carboxylase deficiencyUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:66619245
GRCh38:
Chr11:66851774
PCPyruvate carboxylase deficiencyLikely benign
(Nov 30, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr11:66617524
GRCh38:
Chr11:66850053
PCR928WPyruvate carboxylase deficiencyUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:66617742
GRCh38:
Chr11:66850271
PCPyruvate carboxylase deficiencyLikely benign
(Aug 20, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:66633819
GRCh38:
Chr11:66866348
PCV342IPyruvate carboxylase deficiencyUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:66638676
GRCh38:
Chr11:66871205
PCPyruvate carboxylase deficiencyLikely benign
(Jun 27, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:66620143
GRCh38:
Chr11:66852672
PCPyruvate carboxylase deficiencyLikely benign
(Oct 25, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:66631300
GRCh38:
Chr11:66863829
PCT438MPyruvate carboxylase deficiencyUncertain significance
(Sep 7, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr11:66617481
GRCh38:
Chr11:66850010
PCR942HPyruvate carboxylase deficiencyLikely benign
(Oct 17, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr11:66616780
GRCh38:
Chr11:66849309
PCR1070QPyruvate carboxylase deficiencyLikely benign
(Sep 23, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:66638834
GRCh38:
Chr11:66871363
PCR147CInborn genetic diseases, Pyruvate carboxylase deficiencyUncertain significance
(May 11, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:66618525
GRCh38:
Chr11:66851054
PCI737VInborn genetic diseases, Pyruvate carboxylase deficiencyUncertain significance
(Mar 13, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:66637755
GRCh38:
Chr11:66870284
PCPyruvate carboxylase deficiencyLikely benign
(Aug 10, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:66636318
GRCh38:
Chr11:66868847
PCD341NPyruvate carboxylase deficiencyUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr11:66616521
GRCh38:
Chr11:66849050
PCA1129VPyruvate carboxylase deficiencyLikely benign
(Sep 7, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:66616790
GRCh38:
Chr11:66849319
PCD1067NPyruvate carboxylase deficiencyUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:66618333
GRCh38:
Chr11:66850862
PCR762HPyruvate carboxylase deficiencyLikely benign
(Oct 27, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:66631364
GRCh38:
Chr11:66863893
PCV417IPyruvate carboxylase deficiencyLikely benign
(Oct 3, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:66638571
GRCh38:
Chr11:66871100
PCPyruvate carboxylase deficiencyLikely benign
(Oct 16, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:66631255
GRCh38:
Chr11:66863784
PCR453QPyruvate carboxylase deficiencyUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:66620063
GRCh38:
Chr11:66852592
PCR558WPyruvate carboxylase deficiencyUncertain significance
(Aug 6, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:66638963
GRCh38:
Chr11:66871492
PCPyruvate carboxylase deficiencyLikely benign
(Nov 30, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr11:66617886
GRCh38:
Chr11:66850415
PCPyruvate carboxylase deficiencyLikely benign
(Aug 6, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr11:66616794
GRCh38:
Chr11:66849323
PCPyruvate carboxylase deficiencyLikely benign
(Feb 5, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:66639347
GRCh38:
Chr11:66871876
PCInborn genetic diseases, Pyruvate carboxylase deficiencyConflicting interpretations of pathogenicity
(Sep 7, 2022)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr11:66619993
GRCh38:
Chr11:66852522
PCR581HPyruvate carboxylase deficiencyUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr11:66638943
GRCh38:
Chr11:66871472
PCPyruvate carboxylase deficiencyLikely benign
(Jul 13, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:66638377
GRCh38:
Chr11:66870906
PCPyruvate carboxylase deficiencyLikely benign
(May 3, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:66617551
GRCh38:
Chr11:66850080
PCQ919KPyruvate carboxylase deficiencyUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:66620052
GRCh38:
Chr11:66852581
PCPyruvate carboxylase deficiencyLikely benign
(Apr 28, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:66617802
GRCh38:
Chr11:66850331
PCPyruvate carboxylase deficiencyUncertain significance
(Aug 6, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:66617322
GRCh38:
Chr11:66849851
PCPyruvate carboxylase deficiencyLikely benign
(Apr 28, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:66620096
GRCh38:
Chr11:66852625
PCR547*Pyruvate carboxylase deficiencyPathogenic
(Apr 25, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr11:66617592
GRCh38:
Chr11:66850121
PCPyruvate carboxylase deficiencyLikely benign
(Sep 6, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:66618600
GRCh38:
Chr11:66851129
PCD712Nnot provided, Pyruvate carboxylase deficiencyUncertain significance
(Jan 26, 2023)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr11:66638236
GRCh38:
Chr11:66870765
PCPyruvate carboxylase deficiencyLikely benign
(Jul 15, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:66638298
GRCh38:
Chr11:66870827
PCPyruvate carboxylase deficiencyLikely benign
(Aug 19, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr11:66617239
GRCh38:
Chr11:66849768
PCR997QPyruvate carboxylase deficiencyUncertain significance
(Dec 31, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr11:66620277
GRCh38:
Chr11:66852806
PCP515LInborn genetic diseases, Pyruvate carboxylase deficiencyUncertain significance
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr11:66618325
GRCh38:
Chr11:66850854
PCD765NPyruvate carboxylase deficiencyLikely benign
(Oct 23, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr11:66616638
GRCh38:
Chr11:66849167
PCPyruvate carboxylase deficiencyLikely benign
(Aug 13, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:66617678
GRCh38:
Chr11:66850207
PCPyruvate carboxylase deficiencyLikely benign
(Aug 18, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr11:66639264
GRCh38:
Chr11:66871793
PCT72MPyruvate carboxylase deficiencyUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:66616445
GRCh38:
Chr11:66848974
PCPyruvate carboxylase deficiencyLikely benign
(Oct 28, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:66633740
GRCh38:
Chr11:66866269
PCR368HPyruvate carboxylase deficiencyUncertain significance
(Mar 19, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:66620053
GRCh38:
Chr11:66852582
PCP561LPyruvate carboxylase deficiencyUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:66619994
GRCh38:
Chr11:66852523
PCR581CPyruvate carboxylase deficiencyUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:66616853
GRCh38:
Chr11:66849382
PCPyruvate carboxylase deficiencyLikely benign
(Aug 11, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr11:66617441
GRCh38:
Chr11:66849970
PCPyruvate carboxylase deficiencyLikely benign
(Aug 23, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:66616850
GRCh38:
Chr11:66849379
PCPyruvate carboxylase deficiencyLikely benign
(Oct 26, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:66618238
GRCh38:
Chr11:66850767
PCV794LPyruvate carboxylase deficiencyUncertain significance
(Jun 7, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:66618552
GRCh38:
Chr11:66851081
PCE728KPyruvate carboxylase deficiencyLikely benign
(Nov 1, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:66638594
GRCh38:
Chr11:66871123
PCG188SPyruvate carboxylase deficiencyUncertain significance
(May 17, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr11:66636387
GRCh38:
Chr11:66868916
PCG318SPyruvate carboxylase deficiencyUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:66618165
GRCh38:
Chr11:66850694
PCR818TPyruvate carboxylase deficiencyLikely benign
(Oct 19, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr11:66633834
GRCh38:
Chr11:66866363
PCPyruvate carboxylase deficiencyLikely benign
(May 12, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr11:66637856
GRCh38:
Chr11:66870385
PCV274MPyruvate carboxylase deficiencyUncertain significance
(Jul 20, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr11:66618542
GRCh38:
Chr11:66851071
PCV731APyruvate carboxylase deficiencyUncertain significance
(Mar 5, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:66617187
GRCh38:
Chr11:66849716
PCPyruvate carboxylase deficiencyLikely benign
(Aug 20, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr11:66620319
GRCh38:
Chr11:66852848
PCPyruvate carboxylase deficiencyLikely benign
(Aug 12, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr11:66618564
GRCh38:
Chr11:66851093
PCM724LPyruvate carboxylase deficiencyUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr11:66617501
GRCh38:
Chr11:66850030
PCPyruvate carboxylase deficiencyLikely benign
(Aug 12, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:66616410
GRCh38:
Chr11:66848939
PCM1166TPyruvate carboxylase deficiencyLikely benign
(Nov 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr11:66639519
GRCh38:
Chr11:66872048
PCK38QPyruvate carboxylase deficiencyLikely benign
(Sep 19, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr11:66633820
GRCh38:
Chr11:66866349
PCPyruvate carboxylase deficiencyUncertain significance
(Sep 30, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr11:66636304
GRCh38:
Chr11:66868833
PCPyruvate carboxylase deficiencyLikely benign
(Sep 1, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr11:66619988
GRCh38:
Chr11:66852517
PCR583CPyruvate carboxylase deficiencyUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:66633666
GRCh38:
Chr11:66866195
PCR393CInborn genetic diseases, Pyruvate carboxylase deficiencyUncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr11:66638863
GRCh38:
Chr11:66871392
PCR137QPyruvate carboxylase deficiencyUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr11:66638335
GRCh38:
Chr11:66870864
PCY221FPyruvate carboxylase deficiencyLikely benign
(Sep 8, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr11:66616700
GRCh38:
Chr11:66849229
PCPyruvate carboxylase deficiencyPathogenic
(Jul 13, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr11:66619425
GRCh38:
Chr11:66851954
PCPyruvate carboxylase deficiencyLikely benign
(Apr 25, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:66631394
GRCh38:
Chr11:66863923
PCPyruvate carboxylase deficiencyLikely benign
(Oct 13, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:66639521
GRCh38:
Chr11:66872050
PCI37TPyruvate carboxylase deficiencyUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr11:66638301
GRCh38:
Chr11:66870830
PCPyruvate carboxylase deficiencyLikely benign
(Apr 16, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr11:66618570
GRCh38:
Chr11:66851099
PCY722HPyruvate carboxylase deficiencyUncertain significance
(Apr 10, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr11:66617694
GRCh38:
Chr11:66850223
PCPyruvate carboxylase deficiencyLikely benign
(Apr 10, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr11:66638358
GRCh38:
Chr11:66870887
PCPyruvate carboxylase deficiencyLikely benign
(May 30, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:66617286
GRCh38:
Chr11:66849815
PCPyruvate carboxylase deficiencyLikely benign
(Apr 21, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:66637782
GRCh38:
Chr11:66870311
PCPyruvate carboxylase deficiencyLikely benign
(Mar 25, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:66633811
GRCh38:
Chr11:66866340
PCPyruvate carboxylase deficiencyLikely benign
(May 5, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr11:66637866
GRCh38:
Chr11:66870395
PCPyruvate carboxylase deficiencyLikely benign
(Mar 15, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:66620810
GRCh38:
Chr11:66853339
PCPyruvate carboxylase deficiencyLikely benign
(Mar 15, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:66616802
GRCh38:
Chr11:66849331
PCPyruvate carboxylase deficiencyLikely benign
(Jun 9, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr11:66620135
GRCh38:
Chr11:66852664
PCPyruvate carboxylase deficiencyLikely benign
(Mar 23, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr11:66617944
GRCh38:
Chr11:66850473
PCPyruvate carboxylase deficiencyLikely benign
(Aug 31, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr11:66631280
GRCh38:
Chr11:66863809
PCR445fsPyruvate carboxylase deficiencyPathogenic
(Mar 26, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:66620840
GRCh38:
Chr11:66853369
PCPyruvate carboxylase deficiencyLikely benign
(Mar 6, 2022)
criteria provided, single submitter
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