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Links from MedGen

Items: 1 to 100 of 349

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:45654341
GRCh38:
Chr15:45362143
GATMR284Q, R413QArginine:glycine amidinotransferase deficiencyLikely pathogenic
(Jan 26, 2023)
reviewed by expert panel
FDA Recognized Database
2.
GRCh37:
Chr15:45660314
GRCh38:
Chr15:45368116
GATMW210*, W81*Arginine:glycine amidinotransferase deficiencyPathogenic
(Jan 24, 2023)
reviewed by expert panel
FDA Recognized Database
3.
GRCh37:
Chr15:45152372-45670651
DUOXA2, SORD, SLC28A2, SHF, DUOX2, TERB2, DUOX1, GATM, DUOXA1Arginine:glycine amidinotransferase deficiencyUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr15:45656975-45884494
BLOC1S6, C15orf48, GATM, SPATA5L1, SLC30A4Arginine:glycine amidinotransferase deficiencyUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr15:45661653
GRCh38:
Chr15:45369455
GATMH119NArginine:glycine amidinotransferase deficiencyUncertain significance
(May 28, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr15:45670642
GRCh38:
Chr15:45378444
GATMV4MArginine:glycine amidinotransferase deficiencyUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr15:45656078
GRCh38:
Chr15:45363880
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Aug 16, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr15:45658357
GRCh38:
Chr15:45366159
GATMY289H, Y160HArginine:glycine amidinotransferase deficiencyUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr15:45654393
GRCh38:
Chr15:45362195
GATMR267C, R396CArginine:glycine amidinotransferase deficiencyUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr15:45661731
GRCh38:
Chr15:45369533
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Oct 4, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr15:45670603
GRCh38:
Chr15:45378405
GATMV17LInborn genetic diseases, Arginine:glycine amidinotransferase deficiencyUncertain significance
(Jun 3, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr15:45658258
GRCh38:
Chr15:45366060
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jul 30, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr15:45656231
GRCh38:
Chr15:45364033
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(May 26, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr15:45670568
GRCh38:
Chr15:45378370
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Sep 1, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr15:45656983
GRCh38:
Chr15:45364785
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jun 14, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr15:45657076
GRCh38:
Chr15:45364878
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Mar 11, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr15:45668864
GRCh38:
Chr15:45376666
GATML75IArginine:glycine amidinotransferase deficiencyUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr15:45658372
GRCh38:
Chr15:45366174
GATMH155Y, H284YArginine:glycine amidinotransferase deficiencyUncertain significance
(Sep 9, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr15:45668784
GRCh38:
Chr15:45376586
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(May 27, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr15:45658706
GRCh38:
Chr15:45366508
GATMD226Y, D97YArginine:glycine amidinotransferase deficiencyUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr15:45660254
GRCh38:
Chr15:45368056
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Apr 7, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr15:45658390
GRCh38:
Chr15:45366192
GATMI149V, I278VArginine:glycine amidinotransferase deficiencyUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr15:45661638
GRCh38:
Chr15:45369440
GATMV124IArginine:glycine amidinotransferase deficiencyUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr15:45670642
GRCh38:
Chr15:45378444
GATMV4LArginine:glycine amidinotransferase deficiencyUncertain significance
(Mar 12, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr15:45660258
GRCh38:
Chr15:45368060
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Mar 11, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr15:45654338
GRCh38:
Chr15:45362140
GATMR285H, R414HArginine:glycine amidinotransferase deficiencyUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr15:45660396
GRCh38:
Chr15:45368198
GATMP183S, P54SArginine:glycine amidinotransferase deficiencyUncertain significance
(Jan 31, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr15:45668866
GRCh38:
Chr15:45376668
GATMP74LArginine:glycine amidinotransferase deficiencyUncertain significance
(Jan 27, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr15:45658422
GRCh38:
Chr15:45366224
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Mar 19, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr15:45668855
GRCh38:
Chr15:45376657
GATMV78LArginine:glycine amidinotransferase deficiencyUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr15:45670563
GRCh38:
Chr15:45378365
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Aug 9, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr15:45660421
GRCh38:
Chr15:45368223
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Oct 1, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr15:45658626
GRCh38:
Chr15:45366428
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jul 9, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr15:45668963
GRCh38:
Chr15:45376765
GATMA42TArginine:glycine amidinotransferase deficiencyUncertain significance
(May 22, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr15:45656227
GRCh38:
Chr15:45364029
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Oct 5, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr15:45661507
GRCh38:
Chr15:45369309
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Mar 27, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr15:45669013
GRCh38:
Chr15:45376815
GATMG25EArginine:glycine amidinotransferase deficiencyUncertain significance
(Dec 24, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr15:45660437
GRCh38:
Chr15:45368239
GATMR40Q, R169QArginine:glycine amidinotransferase deficiencyUncertain significance
(Feb 19, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr15:45668920
GRCh38:
Chr15:45376722
GATMA56DArginine:glycine amidinotransferase deficiencyUncertain significance
(Oct 8, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr15:45668790
GRCh38:
Chr15:45376592
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jun 4, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr15:45668865
GRCh38:
Chr15:45376667
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Oct 26, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr15:45658593
GRCh38:
Chr15:45366395
GATMR263S, R134SArginine:glycine amidinotransferase deficiencyUncertain significance
(Dec 19, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr15:45656113
GRCh38:
Chr15:45363915
GATMM382L, M253LArginine:glycine amidinotransferase deficiencyUncertain significance
(Dec 17, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr15:45661548
GRCh38:
Chr15:45369350
GATMK154E, K25EArginine:glycine amidinotransferase deficiencyUncertain significance
(Aug 24, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr15:45668781
GRCh38:
Chr15:45376583
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(May 3, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr15:45654437
GRCh38:
Chr15:45362239
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Oct 21, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr15:45654392
GRCh38:
Chr15:45362194
GATMR267fs, R396fsArginine:glycine amidinotransferase deficiencyUncertain significance
(Sep 24, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr15:45661564
GRCh38:
Chr15:45369366
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Aug 12, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr15:45658228
GRCh38:
Chr15:45366030
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Aug 7, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr15:45658629
GRCh38:
Chr15:45366431
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jul 21, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr15:45669027
GRCh38:
Chr15:45376829
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jul 19, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr15:45656149
GRCh38:
Chr15:45363951
GATMV370I, V241IArginine:glycine amidinotransferase deficiencyUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr15:45660260
GRCh38:
Chr15:45368062
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jun 27, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr15:45656204
GRCh38:
Chr15:45364006
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jun 24, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr15:45657000
GRCh38:
Chr15:45364802
GATMP217Q, P346QArginine:glycine amidinotransferase deficiencyUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr15:45657020
GRCh38:
Chr15:45364822
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jun 25, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr15:45670648
GRCh38:
Chr15:45378450
GATML2VArginine:glycine amidinotransferase deficiencyUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr15:45660363
GRCh38:
Chr15:45368165
GATMR194*, R65*Arginine:glycine amidinotransferase deficiencyPathogenic
(Jun 11, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr15:45658667
GRCh38:
Chr15:45366469
GATMA239S, A110SArginine:glycine amidinotransferase deficiencyUncertain significance
(May 21, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr15:45661568
GRCh38:
Chr15:45369370
GATMI147T, I18TArginine:glycine amidinotransferase deficiencyUncertain significance
(Jun 17, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr15:45660312
GRCh38:
Chr15:45368114
GATMT82A, T211AArginine:glycine amidinotransferase deficiencyUncertain significance
(May 18, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr15:45658581
GRCh38:
Chr15:45366383
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Aug 8, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr15:45670578
GRCh38:
Chr15:45378380
GATMArginine:glycine amidinotransferase deficiencyUncertain significance
(May 12, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr15:45668912
GRCh38:
Chr15:45376714
GATMP59SArginine:glycine amidinotransferase deficiencyUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr15:45657073
GRCh38:
Chr15:45364875
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Mar 9, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr15:45658427
GRCh38:
Chr15:45366229
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Sep 1, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr15:45661526
GRCh38:
Chr15:45369328
GATMT161M, T32MArginine:glycine amidinotransferase deficiencyUncertain significance
(Dec 31, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr15:45658227
GRCh38:
Chr15:45366029
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Feb 24, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr15:45660358
GRCh38:
Chr15:45368160
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Aug 22, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr15:45658247
GRCh38:
Chr15:45366049
GATMH196Q, H325QArginine:glycine amidinotransferase deficiencyUncertain significance
(Jan 31, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr15:45656133
GRCh38:
Chr15:45363935
GATMN246S, N375SArginine:glycine amidinotransferase deficiencyUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr15:45658711
GRCh38:
Chr15:45366513
GATMArginine:glycine amidinotransferase deficiencyUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr15:45658694
GRCh38:
Chr15:45366496
GATMH101Y, H230YArginine:glycine amidinotransferase deficiencyUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr15:45670579
GRCh38:
Chr15:45378381
GATMArginine:glycine amidinotransferase deficiencyUncertain significance
(Mar 5, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr15:45658562
GRCh38:
Chr15:45366364
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Dec 25, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr15:45670616
GRCh38:
Chr15:45378418
GATMArginine:glycine amidinotransferase deficiency, Inborn genetic diseasesLikely benign
(Jul 20, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr15:45661718
GRCh38:
Chr15:45369520
GATMA97GArginine:glycine amidinotransferase deficiencyUncertain significance
(Oct 14, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr15:45656996
GRCh38:
Chr15:45364798
GATMD218E, D347EArginine:glycine amidinotransferase deficiencyUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr15:45669010
GRCh38:
Chr15:45376812
GATMR26QArginine:glycine amidinotransferase deficiencyUncertain significance
(Sep 24, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr15:45661574
GRCh38:
Chr15:45369376
GATMD145A, D16AArginine:glycine amidinotransferase deficiencyUncertain significance
(Sep 16, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr15:45661640
GRCh38:
Chr15:45369442
GATMA123VArginine:glycine amidinotransferase deficiencyUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr15:45654413
GRCh38:
Chr15:45362215
GATMT260S, T389SArginine:glycine amidinotransferase deficiencyUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr15:45660476
GRCh38:
Chr15:45368278
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Oct 27, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr15:45658425
GRCh38:
Chr15:45366227
GATMArginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1, Arginine:glycine amidinotransferase deficiency
Likely benign
(Mar 19, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr15:45656088
GRCh38:
Chr15:45363890
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Feb 10, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr15:45658558
GRCh38:
Chr15:45366360
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Aug 3, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr15:45660468-45660469
GRCh38:
Chr15:45368270-45368271
GATMArginine:glycine amidinotransferase deficiencyBenign
(Feb 8, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr15:45657072
GRCh38:
Chr15:45364874
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Oct 7, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr15:45658555
GRCh38:
Chr15:45366357
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jan 28, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr15:45657069
GRCh38:
Chr15:45364871
GATMArginine:glycine amidinotransferase deficiencyBenign
(Nov 14, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr15:45658292
GRCh38:
Chr15:45366094
GATMArginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1, Arginine:glycine amidinotransferase deficiency
Likely benign
(Dec 26, 2021)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr15:45654385
GRCh38:
Chr15:45362187
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Oct 21, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr15:45660250
GRCh38:
Chr15:45368052
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jun 27, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr15:45658553
GRCh38:
Chr15:45366355
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Oct 7, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr15:45658313
GRCh38:
Chr15:45366115
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jun 28, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr15:45668904
GRCh38:
Chr15:45376706
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jan 12, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr15:45657077
GRCh38:
Chr15:45364879
GATMArginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1, Arginine:glycine amidinotransferase deficiency
Likely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr15:45658720
GRCh38:
Chr15:45366522
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jul 30, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr15:45670575
GRCh38:
Chr15:45378377
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Oct 17, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr15:45654325
GRCh38:
Chr15:45362127
GATMArginine:glycine amidinotransferase deficiencyLikely benign
(Jul 26, 2021)
criteria provided, single submitter
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