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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr13:100741306
GRCh38:
Chr13:100089052
PCCAnot providedLikely benign
(Feb 24, 2019)
criteria provided, single submitterVCV001190369
2.
GRCh37:
Chr13:100741315
GRCh38:
Chr13:100089061
PCCAPropionic acidemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000310839
3.
GRCh37:
Chr13:100741355
GRCh38:
Chr13:100089101
PCCAPropionic acidemia, not specifiedConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000310840
4.
GRCh37:
Chr13:100741361
GRCh38:
Chr13:100089107
PCCAnot specifiedLikely benign
(Aug 3, 2016)
criteria provided, single submitterVCV000387987
5.
GRCh37:
Chr13:100741370
GRCh38:
Chr13:100089116
PCCAPropionic acidemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000310841
6.
GRCh37:
Chr13:100741371
GRCh38:
Chr13:100089117
PCCAPropionic acidemiaUncertain significance
(Apr 17, 2020)
no assertion criteria providedVCV000991687
7.
GRCh37:
Chr13:100741375-100741376
GRCh38:
Chr13:100089121-100089122
PCCAM1fsPropionic acidemiaLikely pathogenic
(May 12, 2017)
criteria provided, single submitterVCV000551960
8.
GRCh37:
Chr13:100741376
GRCh38:
Chr13:100089122
PCCAM1KPropionic acidemiaPathogenic
(May 8, 2019)
no assertion criteria providedVCV000638018
9.
GRCh37:
Chr13:100741376
GRCh38:
Chr13:100089122
PCCAM1TPropionic acidemiaUncertain significance
(May 10, 2018)
criteria provided, multiple submitters, no conflictsVCV000557232
10.
GRCh37:
Chr13:100741383
GRCh38:
Chr13:100089129
PCCAPropionic acidemiaLikely benign
(Oct 31, 2020)
criteria provided, single submitterVCV000795037
11.
GRCh37:
Chr13:100741386
GRCh38:
Chr13:100089132
PCCAPropionic acidemiaLikely benign
(Mar 2, 2020)
criteria provided, single submitterVCV001125974
12.
GRCh37:
Chr13:100741389
GRCh38:
Chr13:100089135
PCCAW5*Propionic acidemiaUncertain significance
(Jun 5, 2018)
criteria provided, single submitterVCV000558534
13.
GRCh37:
Chr13:100741392
GRCh38:
Chr13:100089138
PCCAPropionic acidemiaLikely benign
(Sep 30, 2020)
criteria provided, single submitterVCV001102071
14.
GRCh37:
Chr13:100741393-100741394
GRCh38:
Chr13:100089139-100089140
PCCAR16fsPropionic acidemiaPathogenic
(Dec 18, 2018)
criteria provided, single submitterVCV000659677
15.
GRCh37:
Chr13:100741393
GRCh38:
Chr13:100089139
PCCAT8fsPropionic acidemiaLikely pathogenic
(May 15, 2019)
criteria provided, single submitterVCV000635309
16.
GRCh37:
Chr13:100741398
GRCh38:
Chr13:100089144
PCCAPropionic acidemiaLikely benign
(Aug 7, 2019)
criteria provided, single submitterVCV000763592
17.
GRCh37:
Chr13:100741398
GRCh38:
Chr13:100089144
PCCAnot specified, not provided, Propionic acidemia
Benign/Likely benign
(Nov 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000255736
18.
GRCh37:
Chr13:100741407
GRCh38:
Chr13:100089153
PCCAPropionic acidemiaLikely benign
(Dec 18, 2019)
criteria provided, single submitterVCV001095934
19.
GRCh37:
Chr13:100741407
GRCh38:
Chr13:100089153
PCCAnot provided, Propionic acidemiaLikely benign
(Nov 2, 2018)
criteria provided, single submitterVCV000794384
20.
GRCh37:
Chr13:100741410
GRCh38:
Chr13:100089156
PCCAPropionic acidemiaBenign
(Nov 14, 2020)
criteria provided, single submitterVCV000767075
21.
GRCh37:
Chr13:100741413
GRCh38:
Chr13:100089159
PCCAA14fsPropionic acidemiaLikely pathogeniccriteria provided, single submitterVCV000813433
22.
GRCh37:
Chr13:100741416
GRCh38:
Chr13:100089162
PCCAPropionic acidemiaLikely benign
(Nov 13, 2020)
criteria provided, single submitterVCV001102142
23.
GRCh37:
Chr13:100741416
GRCh38:
Chr13:100089162
PCCAPropionic acidemia, not providedConflicting interpretations of pathogenicity
(Jun 22, 2021)
criteria provided, conflicting interpretationsVCV000388157
24.
GRCh37:
Chr13:100741417
GRCh38:
Chr13:100089163
PCCAG15*Propionic acidemiaPathogenic
(May 8, 2019)
no assertion criteria providedVCV000638019
25.
GRCh37:
Chr13:100741428
GRCh38:
Chr13:100089174
PCCAnot provided, Propionic acidemiaLikely benign
(Aug 3, 2020)
criteria provided, single submitterVCV000763437
26.
GRCh37:
Chr13:100741435
GRCh38:
Chr13:100089181
PCCAP21Snot providedUncertain significance
(Jul 30, 2020)
criteria provided, single submitterVCV001210778
27.
GRCh37:
Chr13:100741443
GRCh38:
Chr13:100089189
PCCAPropionic acidemiaLikely benign
(Jan 18, 2019)
criteria provided, single submitterVCV000800098
28.
GRCh37:
Chr13:100741443-100741452
GRCh38:
Chr13:100089189-100089198
PCCAQ23fsPropionic acidemiaLikely pathogenic
(Feb 15, 2018)
criteria provided, single submitterVCV000556623
29.
GRCh37:
Chr13:100741446
GRCh38:
Chr13:100089192
PCCAPropionic acidemiaLikely benign
(Mar 5, 2019)
criteria provided, single submitterVCV001151710
30.
GRCh37:
Chr13:100741449
GRCh38:
Chr13:100089195
PCCAPropionic acidemiaLikely benign
(Aug 30, 2020)
criteria provided, single submitterVCV001144995
31.
GRCh37:
Chr13:100741464
GRCh38:
Chr13:100089210
PCCAPropionic acidemiaLikely benign
(Oct 11, 2019)
criteria provided, single submitterVCV001154079
32.
GRCh37:
Chr13:100741468
GRCh38:
Chr13:100089214
PCCAPropionic acidemiaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV001116986
33.
GRCh37:
Chr13:100741480
GRCh38:
Chr13:100089226
PCCAPropionic acidemiaPathogenic/Likely pathogenic
(Jul 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000218251
34.
GRCh37:
Chr13:100741585
GRCh38:
Chr13:100089331
PCCAnot providedLikely benign
(Jul 9, 2018)
criteria provided, single submitterVCV001194583
35.
GRCh37:
Chr13:100741752
GRCh38:
Chr13:100089498
PCCAnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000683331
36.
GRCh37:
Chr13:100754836
GRCh38:
Chr13:100102582
PCCAnot providedBenign
(Jun 28, 2018)
criteria provided, single submitterVCV001223454
37.
GRCh37:
Chr13:100754927
GRCh38:
Chr13:100102673
PCCAnot providedLikely benign
(Jul 15, 2018)
criteria provided, single submitterVCV001205307
38.
GRCh37:
Chr13:100755044
GRCh38:
Chr13:100102790
PCCAnot provided, Propionic acidemiaBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV001177525
39.
GRCh37:
Chr13:100755127
GRCh38:
Chr13:100102873
PCCAPropionic acidemiaLikely benign
(Oct 20, 2020)
criteria provided, single submitterVCV001077471
40.
GRCh37:
Chr13:100755136
GRCh38:
Chr13:100102882
PCCAPropionic acidemiaLikely pathogenic
(Sep 5, 2019)
criteria provided, single submitterVCV000962880
41.
GRCh37:
Chr13:100755151
GRCh38:
Chr13:100102897
PCCAPropionic acidemiaUncertain significance
(Apr 17, 2020)
no assertion criteria providedVCV000991688
42.
GRCh37:
Chr13:100755157
GRCh38:
Chr13:100102903
PCCAPropionic acidemiaLikely benign
(Nov 15, 2019)
criteria provided, single submitterVCV001152412
43.
GRCh37:
Chr13:100755162
GRCh38:
Chr13:100102908
PCCAC44fsPropionic acidemiaPathogenic
(May 8, 2019)
no assertion criteria providedVCV000638045
44.
GRCh37:
Chr13:100755165-100755166
GRCh38:
Chr13:100102911-100102912
PCCAL45fsPropionic acidemiaPathogenic
(Jan 1, 2015)
criteria provided, single submitterVCV000218261
45.
GRCh37:
Chr13:100755174
GRCh38:
Chr13:100102920
PCCAR49fsPropionic acidemiaPathogenic
(Mar 4, 2019)
criteria provided, single submitterVCV000843070
46.
GRCh37:
Chr13:100755176
GRCh38:
Chr13:100102922
PCCAR49Cnot provided, Propionic acidemiaLikely benign
(Mar 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000203876
47.
GRCh37:
Chr13:100755208
GRCh38:
Chr13:100102954
PCCAN59KPropionic acidemiaUncertain significance
(Dec 11, 2019)
criteria provided, single submitterVCV000863567
48.
GRCh37:
Chr13:100755210
GRCh38:
Chr13:100102956
PCCAT62fsPropionic acidemiaPathogenic
(Jan 1, 2014)
criteria provided, single submitterVCV000218265
49.
GRCh37:
Chr13:100755213-100755216
GRCh38:
Chr13:100102959-100102962
PCCAPropionic acidemiaConflicting interpretations of pathogenicity
(Feb 17, 2021)
criteria provided, conflicting interpretationsVCV000554669
50.
GRCh37:
Chr13:100755215
GRCh38:
Chr13:100102961
PCCAPropionic acidemiaLikely pathogenic
(Apr 20, 2020)
criteria provided, single submitterVCV001066791
51.
GRCh37:
Chr13:100755216
GRCh38:
Chr13:100102962
PCCAPropionic acidemiaLikely pathogenic
(May 23, 2017)
criteria provided, single submitterVCV000552127
52.
GRCh37:
Chr13:100755221
GRCh38:
Chr13:100102967
PCCAPropionic acidemiaLikely benign
(Sep 5, 2019)
criteria provided, single submitterVCV001115957
53.
GRCh37:
Chr13:100755223
GRCh38:
Chr13:100102969
PCCAPropionic acidemiaLikely benign
(Sep 9, 2020)
criteria provided, single submitterVCV001139147
54.
GRCh37:
Chr13:100755485-100755488
GRCh38:
Chr13:100103231-100103234
PCCAnot providedBenign
(Jul 9, 2018)
criteria provided, single submitterVCV001228860
55.
GRCh37:
Chr13:100763790
GRCh38:
Chr13:100111536
PCCAnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000683335
56.
GRCh37:
Chr13:100764075-100764335
GRCh38:
Chr13:100111821-100112081
PCCAPropionic acidemiaPathogenic
(Jan 11, 2019)
criteria provided, single submitterVCV000654095
57.
GRCh37:
Chr13:100764075-100764076
GRCh38:
Chr13:100111821-100111822
PCCAnot specified, Propionic acidemiaBenign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000196244
58.
GRCh37:
Chr13:100764085
GRCh38:
Chr13:100111831
PCCAPropionic acidemiaLikely benign
(Jul 9, 2020)
criteria provided, single submitterVCV001140033
59.
GRCh37:
Chr13:100764085-100764325
GRCh38:
Chr13:100111831-100112071
PCCAPropionic acidemiaPathogenic
(Sep 5, 2018)
criteria provided, single submitterVCV000650185
60.
GRCh37:
Chr13:100764089
GRCh38:
Chr13:100111835
PCCAPropionic acidemiaLikely benign
(Oct 20, 2020)
criteria provided, single submitterVCV000722564
61.
GRCh37:
Chr13:100764090
GRCh38:
Chr13:100111836
PCCAPropionic acidemiaLikely benign
(Oct 30, 2020)
criteria provided, single submitterVCV001117519
62.
GRCh37:
Chr13:100764094
GRCh38:
Chr13:100111840
PCCAPropionic acidemiaPathogenic
(Jan 1, 2012)
criteria provided, single submitterVCV000218257
63.
GRCh37:
Chr13:100764113
GRCh38:
Chr13:100111859
PCCAV68I, V42IPropionic acidemiaUncertain significance
(Jul 9, 2019)
criteria provided, single submitterVCV000568000
64.
GRCh37:
Chr13:100764134
GRCh38:
Chr13:100111880
PCCAA75P, A49PPropionic acidemia, not providedUncertain significance
(Jun 4, 2018)
criteria provided, multiple submitters, no conflictsVCV000196245
65.
GRCh37:
Chr13:100764140
GRCh38:
Chr13:100111886
PCCAR77W, R51WPropionic acidemiaPathogenic/Likely pathogenic
(Oct 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000550747
66.
GRCh37:
Chr13:100764141
GRCh38:
Chr13:100111887
PCCAR77Q, R51QPropionic acidemiaUncertain significance
(Aug 22, 2017)
criteria provided, single submitterVCV000631693
67.
GRCh37:
Chr13:100764143
GRCh38:
Chr13:100111889
PCCAPropionic acidemiaPathogenic
(Nov 15, 2019)
criteria provided, multiple submitters, no conflictsVCV000550113
68.
GRCh37:
Chr13:100764150
GRCh38:
Chr13:100111896
PCCAPropionic acidemiaLikely benign
(Dec 4, 2020)
criteria provided, single submitterVCV000796411
69.
GRCh37:
Chr13:100764151-100764155
GRCh38:
Chr13:100111897-100111901
PCCAPropionic acidemiaLikely benign
(Apr 6, 2020)
criteria provided, single submitterVCV001087963
70.
GRCh37:
Chr13:100764157
GRCh38:
Chr13:100111903
PCCAnot provided, Propionic acidemia, not specified
Conflicting interpretations of pathogenicity
(Dec 2, 2020)
criteria provided, conflicting interpretationsVCV000310842
71.
GRCh37:
Chr13:100764184-100764187
GRCh38:
Chr13:100111930-100111933
PCCAnot specified, Propionic acidemiaBenign
(Dec 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000255735
72.
GRCh37:
Chr13:100764241
GRCh38:
Chr13:100111987
PCCAPropionic acidemiaLikely benign
(Sep 2, 2020)
criteria provided, single submitterVCV001147734
73.
GRCh37:
Chr13:100764245
GRCh38:
Chr13:100111991
PCCAPropionic acidemiaLikely pathogenic
(Jun 20, 2020)
criteria provided, single submitterVCV001067742
74.
GRCh37:
Chr13:100764245
GRCh38:
Chr13:100111991
PCCAPropionic acidemiaLikely pathogenic
(Oct 12, 2020)
criteria provided, single submitterVCV001066571
75.
GRCh37:
Chr13:100764246
GRCh38:
Chr13:100111992
PCCAnot providedPathogenic
(Dec 2, 2014)
criteria provided, single submitterVCV000197126
76.
GRCh37:
Chr13:100764282
GRCh38:
Chr13:100112028
PCCAPropionic acidemiaLikely benign
(Apr 6, 2019)
criteria provided, single submitterVCV001123652
77.
GRCh37:
Chr13:100764288
GRCh38:
Chr13:100112034
PCCAPropionic acidemiaLikely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001077507
78.
GRCh37:
Chr13:100764294
GRCh38:
Chr13:100112040
PCCAPropionic acidemiaLikely benign
(Sep 30, 2020)
criteria provided, single submitterVCV001121914
79.
GRCh37:
Chr13:100764299
GRCh38:
Chr13:100112045
PCCAD95G, D69GPropionic acidemiaPathogenic
(Jan 1, 2011)
criteria provided, single submitterVCV000218248
80.
GRCh37:
Chr13:100764302
GRCh38:
Chr13:100112048
PCCAV70A, V96APropionic acidemiaUncertain significance
(Sep 24, 2020)
criteria provided, single submitterVCV001004771
81.
GRCh37:
Chr13:100764322
GRCh38:
Chr13:100112068
PCCAPropionic acidemiaLikely benign
(Apr 2, 2020)
criteria provided, single submitterVCV001093155
82.
GRCh37:
Chr13:100764335
GRCh38:
Chr13:100112081
PCCAnot provided, Propionic acidemiaConflicting interpretations of pathogenicity
(Sep 11, 2017)
criteria provided, conflicting interpretationsVCV000092764
83.
GRCh37:
Chr13:100764615
GRCh38:
Chr13:100112361
PCCAnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000669528
84.
GRCh37:
Chr13:100768245
GRCh38:
Chr13:100115991
PCCAnot providedUncertain significance
(Jul 11, 2017)
criteria provided, single submitterVCV000495791
85.
GRCh37:
Chr13:100807237
GRCh38:
Chr13:100154983
PCCAH76fs, H102fsPropionic acidemiaPathogenic
(May 8, 2019)
no assertion criteria providedVCV000638020
86.
GRCh37:
Chr13:100807238
GRCh38:
Chr13:100154984
PCCAPropionic acidemiaLikely benign
(Oct 7, 2019)
criteria provided, single submitterVCV001097380
87.
GRCh37:
Chr13:100807259
GRCh38:
Chr13:100155005
PCCAPropionic acidemiaLikely benign
(Dec 12, 2019)
criteria provided, single submitterVCV001089750
88.
GRCh37:
Chr13:100807260
GRCh38:
Chr13:100155006
PCCAV110L, V84Lnot provided, Propionic acidemiaConflicting interpretations of pathogenicity
(Dec 5, 2020)
criteria provided, conflicting interpretationsVCV000203879
89.
GRCh37:
Chr13:100807263-100807264
GRCh38:
Chr13:100155009-100155010
PCCAV112fs, V86fsPropionic acidemiaPathogenic
(May 8, 2019)
no assertion criteria providedVCV000638021
90.
GRCh37:
Chr13:100807278
GRCh38:
Chr13:100155024
PCCAP90A, P116APropionic acidemiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000882425
91.
GRCh37:
Chr13:100807298
GRCh38:
Chr13:100155044
PCCAPropionic acidemiaLikely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001145067
92.
GRCh37:
Chr13:100807302
GRCh38:
Chr13:100155048
PCCAM124V, M98VPropionic acidemiaUncertain significance
(Apr 17, 2020)
no assertion criteria providedVCV000991689
93.
GRCh37:
Chr13:100807328
GRCh38:
Chr13:100155074
PCCAPropionic acidemiaLikely benign
(Sep 28, 2020)
criteria provided, single submitterVCV001090326
94.
GRCh37:
Chr13:100807344
GRCh38:
Chr13:100155090
PCCAA138T, A112TPropionic acidemiaPathogenic
(May 17, 2012)
no assertion criteria providedVCV000038867
95.
GRCh37:
Chr13:100807353
GRCh38:
Chr13:100155099
PCCAnot provided, Propionic acidemiaLikely benign
(Oct 10, 2018)
criteria provided, single submitterVCV000792636
96.
GRCh37:
Chr13:100807361
GRCh38:
Chr13:100155107
PCCAnot specifiedLikely benign
(Nov 22, 2017)
criteria provided, single submitterVCV000513284
97.
GRCh37:
Chr13:100807416-100807417
GRCh38:
Chr13:100155162-100155163
PCCAnot providedBenign
(May 17, 2020)
criteria provided, single submitterVCV001266036
98.
GRCh37:
Chr13:100807434
GRCh38:
Chr13:100155180
PCCAPropionic acidemia, not providedBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000676222
99.
GRCh37:
Chr13:100807450
GRCh38:
Chr13:100155196
PCCAPropionic acidemia, not providedBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000676223
100.
GRCh37:
Chr13:100807622
GRCh38:
Chr13:100155368
PCCAnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000673227
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