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Links from MedGen

Items: 1 to 100 of 585

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:65551601
GRCh38:
Chr7:66086614
ASLH160fsArgininosuccinate lyase deficiencyLikely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr7:65554323
GRCh38:
Chr7:66089336
ASLArgininosuccinate lyase deficiencyLikely pathogenic
(Feb 6, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr7:65551562-65557909
ASLArgininosuccinate lyase deficiencyUncertain significance
(Aug 4, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr7:65546770-65557899
ASLArgininosuccinate lyase deficiencyUncertain significance
(May 30, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr7:65541069-65557899
ASLArgininosuccinate lyase deficiencyUncertain significance
(Jun 10, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr7:65547857-65548171
ASLArgininosuccinate lyase deficiencyPathogenic
(Oct 5, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr7:65554318
GRCh38:
Chr7:66089331
ASLL299*, L325*Argininosuccinate lyase deficiencyPathogenic
(May 25, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr7:65553781
GRCh38:
Chr7:66088794
ASLArgininosuccinate lyase deficiencyLikely benign
(Aug 13, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr7:65554596
GRCh38:
Chr7:66089609
ASLArgininosuccinate lyase deficiencyUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr7:65548113
GRCh38:
Chr7:66083126
ASLS133LArgininosuccinate lyase deficiencyUncertain significance
(Aug 7, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr7:65552393
GRCh38:
Chr7:66087406
ASLArgininosuccinate lyase deficiencyLikely benign
(Jul 30, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr7:65547438
GRCh38:
Chr7:66082451
ASLArgininosuccinate lyase deficiencyUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr7:65554081
GRCh38:
Chr7:66089094
ASLArgininosuccinate lyase deficiencyUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr7:65557065
GRCh38:
Chr7:66092078
ASLR379G, R353G, R359GArgininosuccinate lyase deficiencyLikely pathogenic
(Jun 11, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr7:65554065
GRCh38:
Chr7:66089078
ASLArgininosuccinate lyase deficiencyLikely benign
(May 21, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr7:65553886
GRCh38:
Chr7:66088899
ASLV271L, V245LArgininosuccinate lyase deficiencyUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr7:65548140-65548141
GRCh38:
Chr7:66083153-66083154
ASLM143fsArgininosuccinate lyase deficiencyPathogenic
(Oct 10, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr7:65541073
GRCh38:
Chr7:66076086
ASLA2DArgininosuccinate lyase deficiency, Inborn genetic diseasesUncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr7:65554333
GRCh38:
Chr7:66089346
ASLArgininosuccinate lyase deficiencyLikely benign
(Jul 24, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr7:65546942
GRCh38:
Chr7:66081955
ASLArgininosuccinate lyase deficiencyLikely benign
(May 15, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr7:65557621
GRCh38:
Chr7:66092634
ASLArgininosuccinate lyase deficiencyLikely benign
(Oct 27, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr7:65554181
GRCh38:
Chr7:66089194
ASLArgininosuccinate lyase deficiencyLikely benign
(Sep 24, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr7:65548175
GRCh38:
Chr7:66083188
ASLArgininosuccinate lyase deficiencyUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr7:65552707
GRCh38:
Chr7:66087720
ASLArgininosuccinate lyase deficiencyLikely benign
(Jun 28, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr7:65557862
GRCh38:
Chr7:66092875
ASLR433L, R427L, R453LArgininosuccinate lyase deficiencyUncertain significance
(Aug 2, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr7:65554695
GRCh38:
Chr7:66089708
ASLArgininosuccinate lyase deficiencyLikely benign
(May 7, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr7:65557574
GRCh38:
Chr7:66092587
ASLG372R, G392R, G366RInborn genetic diseases, Argininosuccinate lyase deficiencyUncertain significance
(Dec 13, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr7:65553781
GRCh38:
Chr7:66088794
ASLArgininosuccinate lyase deficiencyLikely benign
(Sep 12, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr7:65554327
GRCh38:
Chr7:66089340
ASLArgininosuccinate lyase deficiencyUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr7:65557886
GRCh38:
Chr7:66092899
ASLA441V, A461V, A435VArgininosuccinate lyase deficiencyUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr7:65554073
GRCh38:
Chr7:66089086
ASLArgininosuccinate lyase deficiencyUncertain significance
(May 19, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr7:65554276
GRCh38:
Chr7:66089289
ASLL311P, L285PArgininosuccinate lyase deficiencyLikely pathogenic
(May 5, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr7:65557838
GRCh38:
Chr7:66092851
ASLR419H, R425H, R445HArgininosuccinate lyase deficiency, Inborn genetic diseasesUncertain significance
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr7:65546871
GRCh38:
Chr7:66081884
ASLR32WArgininosuccinate lyase deficiencyUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr7:65554581
GRCh38:
Chr7:66089594
ASLArgininosuccinate lyase deficiencyLikely benign
(Aug 21, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr7:65552711
GRCh38:
Chr7:66087724
ASLArgininosuccinate lyase deficiencyLikely benign
(Sep 1, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr7:65554151
GRCh38:
Chr7:66089164
ASLV277M, V303MArgininosuccinate lyase deficiencyUncertain significance
(Apr 21, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr7:65557585
GRCh38:
Chr7:66092598
ASLArgininosuccinate lyase deficiencyLikely benign
(May 30, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr7:65551577
GRCh38:
Chr7:66086590
ASLR151HArgininosuccinate lyase deficiencyUncertain significance
(Mar 15, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr7:65552777
GRCh38:
Chr7:66087790
ASLArgininosuccinate lyase deficiencyUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr7:65557771
GRCh38:
Chr7:66092784
ASLD403H, D397H, D423HArgininosuccinate lyase deficiencyPathogenic
(Sep 23, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr7:65557554
GRCh38:
Chr7:66092567
ASLR365L, R385L, R359LArgininosuccinate lyase deficiencyLikely pathogenic
(Feb 6, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr7:65557606
GRCh38:
Chr7:66092619
ASLArgininosuccinate lyase deficiencyLikely benign
(May 4, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr7:65548162
GRCh38:
Chr7:66083175
ASLArgininosuccinate lyase deficiencyPathogenic
(Apr 20, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr7:65547427-65547428
GRCh38:
Chr7:66082440-66082441
ASLR94fsArgininosuccinate lyase deficiencyPathogenic
(Aug 6, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr7:65557800
GRCh38:
Chr7:66092813
ASLArgininosuccinate lyase deficiencyLikely benign
(Apr 5, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr7:65557615
GRCh38:
Chr7:66092628
ASLArgininosuccinate lyase deficiencyLikely benign
(Apr 12, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr7:65548100
GRCh38:
Chr7:66083113
ASLC129SArgininosuccinate lyase deficiencyUncertain significance
(Jul 24, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr7:65548103
GRCh38:
Chr7:66083116
ASLS130PArgininosuccinate lyase deficiencyUncertain significance
(Aug 25, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr7:65551562
GRCh38:
Chr7:66086575
ASLArgininosuccinate lyase deficiencyLikely benign
(Mar 3, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr7:65547930-65547931
GRCh38:
Chr7:66082943-66082944
ASLArgininosuccinate lyase deficiencyLikely benign
(Mar 11, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr7:65551768
GRCh38:
Chr7:66086781
ASLArgininosuccinate lyase deficiencyLikely benign
(Feb 27, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr7:65548120
GRCh38:
Chr7:66083133
ASLL136fsArgininosuccinate lyase deficiencyPathogenic
(Feb 23, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr7:65547377-65547389
GRCh38:
Chr7:66082390-66082402
ASLF79fsArgininosuccinate lyase deficiencyPathogenic
(Nov 22, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr7:65551770
GRCh38:
Chr7:66086783
ASLArgininosuccinate lyase deficiencyLikely benign
(Feb 4, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr7:65546795
GRCh38:
Chr7:66081808
ASLArgininosuccinate lyase deficiencyLikely benign
(Sep 8, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr7:65547350
GRCh38:
Chr7:66082363
ASLArgininosuccinate lyase deficiencyLikely benign
(Feb 10, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr7:65546771
GRCh38:
Chr7:66081784
ASLArgininosuccinate lyase deficiencyLikely benign
(Jan 22, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr7:65554320
GRCh38:
Chr7:66089333
ASLQ300*, Q326*Argininosuccinate lyase deficiencyPathogenic
(Jan 16, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr7:65554132
GRCh38:
Chr7:66089145
ASLArgininosuccinate lyase deficiencyLikely benign
(Jun 4, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr7:65546876
GRCh38:
Chr7:66081889
ASLH33QArgininosuccinate lyase deficiencyLikely benign
(Aug 27, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr7:65553842
GRCh38:
Chr7:66088855
ASLM230T, M256TArgininosuccinate lyase deficiencyLikely pathogenic
(Jun 23, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr7:65554153
GRCh38:
Chr7:66089166
ASLArgininosuccinate lyase deficiencyLikely benign
(Dec 26, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr7:65554069
GRCh38:
Chr7:66089082
ASLArgininosuccinate lyase deficiencyLikely benign
(Mar 8, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr7:65556983
GRCh38:
Chr7:66091996
ASLArgininosuccinate lyase deficiencyLikely benign
(Dec 18, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr7:65554058
GRCh38:
Chr7:66089071
ASLArgininosuccinate lyase deficiencyLikely benign
(May 24, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr7:65557872
GRCh38:
Chr7:66092885
ASLArgininosuccinate lyase deficiencyLikely benign
(Jul 30, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr7:65552314
GRCh38:
Chr7:66087327
ASLArgininosuccinate lyase deficiencyLikely benign
(Oct 15, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr7:65552710
GRCh38:
Chr7:66087723
ASLArgininosuccinate lyase deficiencyLikely benign
(Sep 15, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr7:65551590
GRCh38:
Chr7:66086603
ASLArgininosuccinate lyase deficiencyLikely benign
(Sep 23, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr7:65547884
GRCh38:
Chr7:66082897
ASLArgininosuccinate lyase deficiencyLikely benign
(Sep 13, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr7:65557878
GRCh38:
Chr7:66092891
ASLArgininosuccinate lyase deficiencyLikely benign
(Sep 23, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr7:65554610
GRCh38:
Chr7:66089623
ASLArgininosuccinate lyase deficiencyLikely benign
(Aug 20, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr7:65552741
GRCh38:
Chr7:66087754
ASLArgininosuccinate lyase deficiencyLikely benign
(Aug 9, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr7:65556986
GRCh38:
Chr7:66091999
ASLArgininosuccinate lyase deficiencyBenign
(Aug 9, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr7:65541088
GRCh38:
Chr7:66076101
ASLArgininosuccinate lyase deficiencyLikely benign
(Jul 13, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr7:65553811
GRCh38:
Chr7:66088824
ASLA246T, A220TArgininosuccinate lyase deficiencyUncertain significance
(Jul 3, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr7:65552704
GRCh38:
Chr7:66087717
ASLArgininosuccinate lyase deficiencyLikely benign
(Jun 30, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr7:65554307
GRCh38:
Chr7:66089320
ASLArgininosuccinate lyase deficiencyLikely benign
(Jun 26, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr7:65547399
GRCh38:
Chr7:66082412
ASLArgininosuccinate lyase deficiencyLikely benign
(Jun 14, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr7:65546835
GRCh38:
Chr7:66081848
ASLI20fsArgininosuccinate lyase deficiencyPathogenic
(Jun 13, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr7:65548113
GRCh38:
Chr7:66083126
ASLS133WArgininosuccinate lyase deficiencyUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr7:65553798
GRCh38:
Chr7:66088811
ASLE215D, E241DArgininosuccinate lyase deficiencyLikely pathogenic
(Jun 18, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr7:65547441
GRCh38:
Chr7:66082454
ASLArgininosuccinate lyase deficiencyUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr7:65557858
GRCh38:
Chr7:66092871
ASLI426F, I432F, I452FArgininosuccinate lyase deficiencyConflicting interpretations of pathogenicity
(Sep 6, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr7:65557875
GRCh38:
Chr7:66092888
ASLArgininosuccinate lyase deficiencyLikely benign
(Sep 24, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr7:65557783
GRCh38:
Chr7:66092796
ASLV427M, V401M, V407MArgininosuccinate lyase deficiencyUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr7:65557870
GRCh38:
Chr7:66092883
ASLArgininosuccinate lyase deficiencyLikely benign
(Jan 5, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr7:65554251
GRCh38:
Chr7:66089264
ASLArgininosuccinate lyase deficiencyLikely benign
(Sep 7, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr7:65554669
GRCh38:
Chr7:66089682
ASLI330T, I324T, I350TArgininosuccinate lyase deficiencyUncertain significance
(May 10, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr7:65551592
GRCh38:
Chr7:66086605
ASLP156QArgininosuccinate lyase deficiencyLikely pathogenic
(Sep 13, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr7:65547877
GRCh38:
Chr7:66082890
ASLG101DArgininosuccinate lyase deficiencyLikely pathogenic
(Dec 25, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr7:65551617
GRCh38:
Chr7:66086630
ASLArgininosuccinate lyase deficiencyLikely benign
(Jul 1, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr7:65554093
GRCh38:
Chr7:66089106
ASLArgininosuccinate lyase deficiencyLikely benign
(Apr 4, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr7:65554170
GRCh38:
Chr7:66089183
ASLArgininosuccinate lyase deficiencyLikely benign
(Aug 6, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr7:65547376
GRCh38:
Chr7:66082389
ASLG77RArgininosuccinate lyase deficiencyUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr7:65552710
GRCh38:
Chr7:66087723
ASLArgininosuccinate lyase deficiencyLikely benign
(Aug 22, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr7:65552757
GRCh38:
Chr7:66087770
ASLT233S, T207SArgininosuccinate lyase deficiencyUncertain significance
(Nov 22, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr7:65546992
GRCh38:
Chr7:66082005
ASLArgininosuccinate lyase deficiencyLikely benign
(Oct 27, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr7:65553888
GRCh38:
Chr7:66088901
ASLArgininosuccinate lyase deficiencyLikely benign
(Jul 6, 2022)
criteria provided, single submitter
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