| - GRCh37:
- Chr7:65551601
- GRCh38:
- Chr7:66086614
| ASL | H160fs | Argininosuccinate lyase deficiency | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554323
- GRCh38:
- Chr7:66089336
| ASL | | Argininosuccinate lyase deficiency | Likely pathogenic (Feb 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65551562-65557909
| ASL | | Argininosuccinate lyase deficiency | Uncertain significance (Aug 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65546770-65557899
| ASL | | Argininosuccinate lyase deficiency | Uncertain significance (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65541069-65557899
| ASL | | Argininosuccinate lyase deficiency | Uncertain significance (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65547857-65548171
| ASL | | Argininosuccinate lyase deficiency | Pathogenic (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554318
- GRCh38:
- Chr7:66089331
| ASL | L299*, L325* | Argininosuccinate lyase deficiency | Pathogenic (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65553781
- GRCh38:
- Chr7:66088794
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554596
- GRCh38:
- Chr7:66089609
| ASL | | Argininosuccinate lyase deficiency | Uncertain significance (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65548113
- GRCh38:
- Chr7:66083126
| ASL | S133L | Argininosuccinate lyase deficiency | Uncertain significance (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65552393
- GRCh38:
- Chr7:66087406
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65547438
- GRCh38:
- Chr7:66082451
| ASL | | Argininosuccinate lyase deficiency | Uncertain significance (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554081
- GRCh38:
- Chr7:66089094
| ASL | | Argininosuccinate lyase deficiency | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557065
- GRCh38:
- Chr7:66092078
| ASL | R379G, R353G, R359G | Argininosuccinate lyase deficiency | Likely pathogenic (Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554065
- GRCh38:
- Chr7:66089078
| ASL | | Argininosuccinate lyase deficiency | Likely benign (May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65553886
- GRCh38:
- Chr7:66088899
| ASL | V271L, V245L | Argininosuccinate lyase deficiency | Uncertain significance (Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65548140-65548141
- GRCh38:
- Chr7:66083153-66083154
| ASL | M143fs | Argininosuccinate lyase deficiency | Pathogenic (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65541073
- GRCh38:
- Chr7:66076086
| ASL | A2D | Argininosuccinate lyase deficiency, Inborn genetic diseases | Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:65554333
- GRCh38:
- Chr7:66089346
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jul 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65546942
- GRCh38:
- Chr7:66081955
| ASL | | Argininosuccinate lyase deficiency | Likely benign (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557621
- GRCh38:
- Chr7:66092634
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554181
- GRCh38:
- Chr7:66089194
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65548175
- GRCh38:
- Chr7:66083188
| ASL | | Argininosuccinate lyase deficiency | Uncertain significance (Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65552707
- GRCh38:
- Chr7:66087720
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557862
- GRCh38:
- Chr7:66092875
| ASL | R433L, R427L, R453L | Argininosuccinate lyase deficiency | Uncertain significance (Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554695
- GRCh38:
- Chr7:66089708
| ASL | | Argininosuccinate lyase deficiency | Likely benign (May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557574
- GRCh38:
- Chr7:66092587
| ASL | G372R, G392R, G366R | Inborn genetic diseases, Argininosuccinate lyase deficiency | Uncertain significance (Dec 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:65553781
- GRCh38:
- Chr7:66088794
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554327
- GRCh38:
- Chr7:66089340
| ASL | | Argininosuccinate lyase deficiency | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557886
- GRCh38:
- Chr7:66092899
| ASL | A441V, A461V, A435V | Argininosuccinate lyase deficiency | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554073
- GRCh38:
- Chr7:66089086
| ASL | | Argininosuccinate lyase deficiency | Uncertain significance (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554276
- GRCh38:
- Chr7:66089289
| ASL | L311P, L285P | Argininosuccinate lyase deficiency | Likely pathogenic (May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557838
- GRCh38:
- Chr7:66092851
| ASL | R419H, R425H, R445H | Argininosuccinate lyase deficiency, Inborn genetic diseases | Uncertain significance (Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:65546871
- GRCh38:
- Chr7:66081884
| ASL | R32W | Argininosuccinate lyase deficiency | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554581
- GRCh38:
- Chr7:66089594
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65552711
- GRCh38:
- Chr7:66087724
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554151
- GRCh38:
- Chr7:66089164
| ASL | V277M, V303M | Argininosuccinate lyase deficiency | Uncertain significance (Apr 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557585
- GRCh38:
- Chr7:66092598
| ASL | | Argininosuccinate lyase deficiency | Likely benign (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65551577
- GRCh38:
- Chr7:66086590
| ASL | R151H | Argininosuccinate lyase deficiency | Uncertain significance (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65552777
- GRCh38:
- Chr7:66087790
| ASL | | Argininosuccinate lyase deficiency | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557771
- GRCh38:
- Chr7:66092784
| ASL | D403H, D397H, D423H | Argininosuccinate lyase deficiency | Pathogenic (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557554
- GRCh38:
- Chr7:66092567
| ASL | R365L, R385L, R359L | Argininosuccinate lyase deficiency | Likely pathogenic (Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557606
- GRCh38:
- Chr7:66092619
| ASL | | Argininosuccinate lyase deficiency | Likely benign (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65548162
- GRCh38:
- Chr7:66083175
| ASL | | Argininosuccinate lyase deficiency | Pathogenic (Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65547427-65547428
- GRCh38:
- Chr7:66082440-66082441
| ASL | R94fs | Argininosuccinate lyase deficiency | Pathogenic (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557800
- GRCh38:
- Chr7:66092813
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557615
- GRCh38:
- Chr7:66092628
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65548100
- GRCh38:
- Chr7:66083113
| ASL | C129S | Argininosuccinate lyase deficiency | Uncertain significance (Jul 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65548103
- GRCh38:
- Chr7:66083116
| ASL | S130P | Argininosuccinate lyase deficiency | Uncertain significance (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65551562
- GRCh38:
- Chr7:66086575
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65547930-65547931
- GRCh38:
- Chr7:66082943-66082944
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65551768
- GRCh38:
- Chr7:66086781
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65548120
- GRCh38:
- Chr7:66083133
| ASL | L136fs | Argininosuccinate lyase deficiency | Pathogenic (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65547377-65547389
- GRCh38:
- Chr7:66082390-66082402
| ASL | F79fs | Argininosuccinate lyase deficiency | Pathogenic (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65551770
- GRCh38:
- Chr7:66086783
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65546795
- GRCh38:
- Chr7:66081808
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65547350
- GRCh38:
- Chr7:66082363
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65546771
- GRCh38:
- Chr7:66081784
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jan 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554320
- GRCh38:
- Chr7:66089333
| ASL | Q300*, Q326* | Argininosuccinate lyase deficiency | Pathogenic (Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554132
- GRCh38:
- Chr7:66089145
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65546876
- GRCh38:
- Chr7:66081889
| ASL | H33Q | Argininosuccinate lyase deficiency | Likely benign (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65553842
- GRCh38:
- Chr7:66088855
| ASL | M230T, M256T | Argininosuccinate lyase deficiency | Likely pathogenic (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554153
- GRCh38:
- Chr7:66089166
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Dec 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554069
- GRCh38:
- Chr7:66089082
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65556983
- GRCh38:
- Chr7:66091996
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554058
- GRCh38:
- Chr7:66089071
| ASL | | Argininosuccinate lyase deficiency | Likely benign (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557872
- GRCh38:
- Chr7:66092885
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65552314
- GRCh38:
- Chr7:66087327
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Oct 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65552710
- GRCh38:
- Chr7:66087723
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65551590
- GRCh38:
- Chr7:66086603
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65547884
- GRCh38:
- Chr7:66082897
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557878
- GRCh38:
- Chr7:66092891
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554610
- GRCh38:
- Chr7:66089623
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65552741
- GRCh38:
- Chr7:66087754
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65556986
- GRCh38:
- Chr7:66091999
| ASL | | Argininosuccinate lyase deficiency | Benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65541088
- GRCh38:
- Chr7:66076101
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65553811
- GRCh38:
- Chr7:66088824
| ASL | A246T, A220T | Argininosuccinate lyase deficiency | Uncertain significance (Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65552704
- GRCh38:
- Chr7:66087717
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554307
- GRCh38:
- Chr7:66089320
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65547399
- GRCh38:
- Chr7:66082412
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65546835
- GRCh38:
- Chr7:66081848
| ASL | I20fs | Argininosuccinate lyase deficiency | Pathogenic (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65548113
- GRCh38:
- Chr7:66083126
| ASL | S133W | Argininosuccinate lyase deficiency | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65553798
- GRCh38:
- Chr7:66088811
| ASL | E215D, E241D | Argininosuccinate lyase deficiency | Likely pathogenic (Jun 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65547441
- GRCh38:
- Chr7:66082454
| ASL | | Argininosuccinate lyase deficiency | Uncertain significance (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557858
- GRCh38:
- Chr7:66092871
| ASL | I426F, I432F, I452F | Argininosuccinate lyase deficiency | Conflicting interpretations of pathogenicity (Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:65557875
- GRCh38:
- Chr7:66092888
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557783
- GRCh38:
- Chr7:66092796
| ASL | V427M, V401M, V407M | Argininosuccinate lyase deficiency | Uncertain significance (Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65557870
- GRCh38:
- Chr7:66092883
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554251
- GRCh38:
- Chr7:66089264
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554669
- GRCh38:
- Chr7:66089682
| ASL | I330T, I324T, I350T | Argininosuccinate lyase deficiency | Uncertain significance (May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65551592
- GRCh38:
- Chr7:66086605
| ASL | P156Q | Argininosuccinate lyase deficiency | Likely pathogenic (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65547877
- GRCh38:
- Chr7:66082890
| ASL | G101D | Argininosuccinate lyase deficiency | Likely pathogenic (Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65551617
- GRCh38:
- Chr7:66086630
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554093
- GRCh38:
- Chr7:66089106
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65554170
- GRCh38:
- Chr7:66089183
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65547376
- GRCh38:
- Chr7:66082389
| ASL | G77R | Argininosuccinate lyase deficiency | Uncertain significance (Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65552710
- GRCh38:
- Chr7:66087723
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65552757
- GRCh38:
- Chr7:66087770
| ASL | T233S, T207S | Argininosuccinate lyase deficiency | Uncertain significance (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65546992
- GRCh38:
- Chr7:66082005
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:65553888
- GRCh38:
- Chr7:66088901
| ASL | | Argininosuccinate lyase deficiency | Likely benign (Jul 6, 2022) | criteria provided, single submitter |