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Links from MedGen

Items: 1 to 100 of 613

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr13:111294870
GRCh38:
Chr13:110642523
CARS2Combined oxidative phosphorylation defect type 27Uncertain significance
(Dec 28, 2019)
criteria provided, single submitter
2.
GRCh37:
Chr13:111286872-111319840
CARS2, NAXDCombined oxidative phosphorylation defect type 27Uncertain significance
(May 29, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr13:111319712
GRCh38:
Chr13:110667365
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(May 10, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr13:111299581
GRCh38:
Chr13:110647234
CARS2D354N, D92Nnot provided, Combined oxidative phosphorylation defect type 27Uncertain significance
(Nov 29, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr13:111340331
GRCh38:
Chr13:110687984
CARS2Y143CCombined oxidative phosphorylation defect type 27Uncertain significance
(May 13, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr13:111358345
GRCh38:
Chr13:110705998
CARS2, LOC130010127Combined oxidative phosphorylation defect type 27Likely benign
(Jul 5, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr13:111340113
GRCh38:
Chr13:110687766
CARS2I176VCombined oxidative phosphorylation defect type 27Uncertain significance
(Jun 18, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr13:111293925
GRCh38:
Chr13:110641578
CARS2L552M, L290MCombined oxidative phosphorylation defect type 27Uncertain significance
(May 22, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr13:111303366
GRCh38:
Chr13:110651019
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Oct 13, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr13:111315839
GRCh38:
Chr13:110663492
CARS2E54K, E316KCombined oxidative phosphorylation defect type 27Uncertain significance
(Jul 27, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr13:111298454
GRCh38:
Chr13:110646107
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Sep 12, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr13:111335387
GRCh38:
Chr13:110683040
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Dec 18, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr13:111319750
GRCh38:
Chr13:110667403
CARS2E286K, E24Knot provided, Combined oxidative phosphorylation defect type 27Uncertain significance
(Apr 21, 2023)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr13:111340350
GRCh38:
Chr13:110688003
CARS2A137TCombined oxidative phosphorylation defect type 27Uncertain significance
(Jun 2, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr13:111296790
GRCh38:
Chr13:110644443
CARS2I191T, I453TCombined oxidative phosphorylation defect type 27Uncertain significance
(Aug 10, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr13:111294795
GRCh38:
Chr13:110642448
CARS2V497A, V235ACombined oxidative phosphorylation defect type 27Uncertain significance
(Sep 6, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr13:111358422
GRCh38:
Chr13:110706075
CARS2, LOC130010127G7SCombined oxidative phosphorylation defect type 27Uncertain significance
(Jul 30, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr13:111329335
GRCh38:
Chr13:110676988
CARS2C257WCombined oxidative phosphorylation defect type 27Uncertain significance
(Mar 29, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr13:111298450
GRCh38:
Chr13:110646103
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Jul 26, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr13:111293969-111293970
GRCh38:
Chr13:110641622-110641623
CARS2Combined oxidative phosphorylation defect type 27Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr13:111303366
GRCh38:
Chr13:110651019
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Jul 3, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr13:111353896
GRCh38:
Chr13:110701549
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Aug 16, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr13:111294866
GRCh38:
Chr13:110642519
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Sep 27, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr13:111329465
GRCh38:
Chr13:110677118
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Apr 15, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr13:111340385
GRCh38:
Chr13:110688038
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Dec 24, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr13:111315808
GRCh38:
Chr13:110663461
CARS2I326T, I64TCombined oxidative phosphorylation defect type 27Uncertain significance
(Jun 15, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr13:111353824
GRCh38:
Chr13:110701477
CARS2Combined oxidative phosphorylation defect type 27, not specifiedLikely benign
(Jun 22, 2023)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr13:111353870
GRCh38:
Chr13:110701523
CARS2I103SCombined oxidative phosphorylation defect type 27Uncertain significance
(May 8, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr13:111329389
GRCh38:
Chr13:110677042
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(May 5, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr13:111296774
GRCh38:
Chr13:110644427
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(May 5, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr13:111303369
GRCh38:
Chr13:110651022
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Apr 30, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr13:111299448
GRCh38:
Chr13:110647101
CARS2R136K, R398KCombined oxidative phosphorylation defect type 27Uncertain significance
(Apr 20, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr13:111303448
GRCh38:
Chr13:110651101
CARS2Combined oxidative phosphorylation defect type 27Uncertain significance
(Oct 24, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr13:111294762
GRCh38:
Chr13:110642415
CARS2T246K, T508KCombined oxidative phosphorylation defect type 27Uncertain significance
(Apr 15, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr13:111303370
GRCh38:
Chr13:110651023
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Apr 13, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr13:111358281
GRCh38:
Chr13:110705934
CARS2, LOC130010127V54LCombined oxidative phosphorylation defect type 27Uncertain significance
(Apr 8, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr13:111358333
GRCh38:
Chr13:110705986
LOC130010127, CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Sep 17, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr13:111358406-111358417
GRCh38:
Chr13:110706059-110706070
CARS2, LOC130010127Combined oxidative phosphorylation defect type 27Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr13:111319747
GRCh38:
Chr13:110667400
CARS2I287V, I25VCombined oxidative phosphorylation defect type 27Uncertain significance
(Mar 20, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr13:111340058
GRCh38:
Chr13:110687711
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Sep 7, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr13:111299448-111299449
GRCh38:
Chr13:110647101-110647102
CARS2R398fs, R136fsCombined oxidative phosphorylation defect type 27Uncertain significance
(Mar 15, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr13:111357856
GRCh38:
Chr13:110705509
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Mar 13, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr13:111358319
GRCh38:
Chr13:110705972
CARS2, LOC130010127A41DCombined oxidative phosphorylation defect type 27Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr13:111299589
GRCh38:
Chr13:110647242
CARS2Combined oxidative phosphorylation defect type 27Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr13:111294761
GRCh38:
Chr13:110642414
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Feb 20, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr13:111358277
GRCh38:
Chr13:110705930
CARS2, LOC130010127Y55CCombined oxidative phosphorylation defect type 27Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr13:111340340
GRCh38:
Chr13:110687993
CARS2A140VCombined oxidative phosphorylation defect type 27Uncertain significance
(Jul 23, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr13:111358369-111358370
GRCh38:
Chr13:110706022-110706023
LOC130010127, CARS2H27fsCombined oxidative phosphorylation defect type 27Uncertain significance
(Feb 18, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr13:111294826
GRCh38:
Chr13:110642479
CARS2V487L, V225LCombined oxidative phosphorylation defect type 27Uncertain significance
(Jan 27, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr13:111358218
GRCh38:
Chr13:110705871
CARS2W75RCombined oxidative phosphorylation defect type 27Uncertain significance
(Jan 27, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr13:111358308
GRCh38:
Chr13:110705961
CARS2, LOC130010127P45TCombined oxidative phosphorylation defect type 27Uncertain significance
(Jan 18, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr13:111296727
GRCh38:
Chr13:110644380
CARS2Combined oxidative phosphorylation defect type 27Uncertain significance
(Aug 26, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr13:111294777
GRCh38:
Chr13:110642430
CARS2A241V, A503VCombined oxidative phosphorylation defect type 27Uncertain significance
(Aug 5, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr13:111299572-111299573
GRCh38:
Chr13:110647225-110647226
CARS2D357*, D95*Inborn genetic diseases, Combined oxidative phosphorylation defect type 27Conflicting interpretations of pathogenicity
(Nov 11, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr13:111298415
GRCh38:
Chr13:110646068
CARS2V144M, V406MCombined oxidative phosphorylation defect type 27Uncertain significance
(Oct 24, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr13:111293942
GRCh38:
Chr13:110641595
CARS2T284I, T546ICombined oxidative phosphorylation defect type 27Uncertain significance
(Jan 13, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr13:111296757
GRCh38:
Chr13:110644410
CARS2V464A, V202ACombined oxidative phosphorylation defect type 27Uncertain significance
(Jan 3, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr13:111340141
GRCh38:
Chr13:110687794
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Oct 20, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr13:111357863
GRCh38:
Chr13:110705516
CARS2Combined oxidative phosphorylation defect type 27Uncertain significance
(Jul 19, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr13:111298336
GRCh38:
Chr13:110645989
CARS2G432V, G170VCombined oxidative phosphorylation defect type 27Uncertain significance
(Dec 29, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr13:111296732
GRCh38:
Chr13:110644385
CARS2Combined oxidative phosphorylation defect type 27Uncertain significance
(Oct 24, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr13:111335428
GRCh38:
Chr13:110683081
CARS2G209SCombined oxidative phosphorylation defect type 27Uncertain significance
(Aug 3, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr13:111303452
GRCh38:
Chr13:110651105
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Apr 22, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr13:111329430
GRCh38:
Chr13:110677083
CARS2A226SCombined oxidative phosphorylation defect type 27Uncertain significance
(Dec 25, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr13:111353917
GRCh38:
Chr13:110701570
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Dec 19, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr13:111329307
GRCh38:
Chr13:110676960
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Sep 1, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr13:111298401
GRCh38:
Chr13:110646054
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(May 31, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr13:111294792
GRCh38:
Chr13:110642445
CARS2R236P, R498PCombined oxidative phosphorylation defect type 27Uncertain significance
(Apr 20, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr13:111340384
GRCh38:
Chr13:110688037
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Dec 8, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr13:111357900
GRCh38:
Chr13:110705553
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Dec 6, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr13:111303427
GRCh38:
Chr13:110651080
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Oct 7, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr13:111299462
GRCh38:
Chr13:110647115
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Apr 17, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr13:111353909
GRCh38:
Chr13:110701562
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Aug 12, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr13:111315864
GRCh38:
Chr13:110663517
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Sep 24, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr13:111358388
GRCh38:
Chr13:110706041
CARS2, LOC130010127A18VCombined oxidative phosphorylation defect type 27Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr13:111293884
GRCh38:
Chr13:110641537
CARS2Combined oxidative phosphorylation defect type 27Uncertain significance
(Aug 3, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr13:111296848
GRCh38:
Chr13:110644501
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Aug 22, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr13:111329321
GRCh38:
Chr13:110676974
CARS2S262TCombined oxidative phosphorylation defect type 27Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr13:111353834
GRCh38:
Chr13:110701487
CARS2V115ACombined oxidative phosphorylation defect type 27Uncertain significance
(Jul 1, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr13:111294810
GRCh38:
Chr13:110642463
CARS2R492P, R230PCombined oxidative phosphorylation defect type 27Uncertain significance
(Jul 20, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr13:111299443
GRCh38:
Chr13:110647096
CARS2Combined oxidative phosphorylation defect type 27Uncertain significance
(Jun 22, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr13:111340181
GRCh38:
Chr13:110687834
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Jun 13, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr13:111299573
GRCh38:
Chr13:110647226
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Jun 18, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr13:111296746
GRCh38:
Chr13:110644399
CARS2L468V, L206VCombined oxidative phosphorylation defect type 27Uncertain significance
(Jun 11, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr13:111298340
GRCh38:
Chr13:110645993
CARS2N169D, N431DCombined oxidative phosphorylation defect type 27Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr13:111293917
GRCh38:
Chr13:110641570
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Nov 1, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr13:111294670
GRCh38:
Chr13:110642323
CARS2N539H, N277HCombined oxidative phosphorylation defect type 27Uncertain significance
(May 27, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr13:111340056
GRCh38:
Chr13:110687709
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Aug 23, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr13:111293901
GRCh38:
Chr13:110641554
CARS2Q560*, Q298*Combined oxidative phosphorylation defect type 27Uncertain significance
(May 20, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr13:111294803
GRCh38:
Chr13:110642456
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(May 15, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr13:111319823
GRCh38:
Chr13:110667476
CARS2Combined oxidative phosphorylation defect type 27Uncertain significance
(May 12, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr13:111303451
GRCh38:
Chr13:110651104
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Sep 7, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr13:111319836
GRCh38:
Chr13:110667489
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Aug 22, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr13:111358334
GRCh38:
Chr13:110705987
CARS2, LOC130010127G36VCombined oxidative phosphorylation defect type 27Uncertain significance
(Jul 27, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr13:111299501
GRCh38:
Chr13:110647154
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(May 14, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr13:111294644
GRCh38:
Chr13:110642297
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Dec 21, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr13:111294831
GRCh38:
Chr13:110642484
CARS2G485D, G223DCombined oxidative phosphorylation defect type 27Uncertain significance
(Mar 12, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr13:111298425
GRCh38:
Chr13:110646078
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Feb 7, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr13:111298297
GRCh38:
Chr13:110645950
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Sep 25, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr13:111298434
GRCh38:
Chr13:110646087
CARS2Combined oxidative phosphorylation defect type 27Likely benign
(Jun 23, 2022)
criteria provided, single submitter
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