| - GRCh37:
- Chr22:42461734-42461741
- GRCh38:
- Chr22:42065730-42065737
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1,
Alpha-N-acetylgalactosaminidase deficiency type 2 | Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42466290
- GRCh38:
- Chr22:42070286
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42461804
- GRCh38:
- Chr22:42065800
| NAGA | V233M | Alpha-N-acetylgalactosaminidase deficiency type 2, Inborn genetic diseases, Alpha-N-acetylgalactosaminidase deficiency type 1
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42454559
- GRCh38:
- Chr22:42058555
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42455711
- GRCh38:
- Chr22:42059707
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42455553
- GRCh38:
- Chr22:42059549
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454421
- GRCh38:
- Chr22:42058417
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454353
- GRCh38:
- Chr22:42058349
| NAGA, WBP2NL | | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42455180
- GRCh38:
- Chr22:42059176
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42463769
- GRCh38:
- Chr22:42067765
| LOC126863160, NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 | Uncertain significance
(Jun 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42456228
- GRCh38:
- Chr22:42060224
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42456176
- GRCh38:
- Chr22:42060172
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42456113
- GRCh38:
- Chr22:42060109
| NAGA | | not provided, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
| Benign/Likely benign
(Feb 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42454972
- GRCh38:
- Chr22:42058968
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454799
- GRCh38:
- Chr22:42058795
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454728
- GRCh38:
- Chr22:42058724
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42466695
- GRCh38:
- Chr22:42070691
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42463133
- GRCh38:
- Chr22:42067129
| LOC126863160, NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42463126
- GRCh38:
- Chr22:42067122
| LOC126863160, NAGA | R165W | Alpha-N-acetylgalactosaminidase deficiency type 1, not provided, Alpha-N-acetylgalactosaminidase deficiency type 2
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42462729
- GRCh38:
- Chr22:42066725
| LOC126863160, NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42463137
- GRCh38:
- Chr22:42067133
| LOC126863160, NAGA | T161I | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, not provided
| Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:42461883
- GRCh38:
- Chr22:42065879
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 | Conflicting interpretations of pathogenicity
(Jun 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:42456310
- GRCh38:
- Chr22:42060306
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Conflicting interpretations of pathogenicity
(Sep 10, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:42463132
- GRCh38:
- Chr22:42067128
| LOC126863160, NAGA | E163K | Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42466803
- GRCh38:
- Chr22:42070799
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42466797
- GRCh38:
- Chr22:42070793
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42466607
- GRCh38:
- Chr22:42070603
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42466509
- GRCh38:
- Chr22:42070505
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, not provided
| Benign
(Jun 19, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42466344
- GRCh38:
- Chr22:42070340
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42464576
- GRCh38:
- Chr22:42068572
| LOC126863160, NAGA | L7F | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42464570
- GRCh38:
- Chr22:42068566
| LOC126863160, NAGA | | not provided, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
| Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42464485
- GRCh38:
- Chr22:42068481
| NAGA, LOC126863160 | R37H | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, not provided,
Inborn genetic diseases | Uncertain significance
(Mar 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42463813
- GRCh38:
- Chr22:42067809
| LOC126863160, NAGA | D94N | not provided, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1,
Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:42463213
- GRCh38:
- Chr22:42067209
| LOC126863160, NAGA | D136N | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1, not specified
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:42462762
- GRCh38:
- Chr22:42066758
| LOC126863160, NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42461863
- GRCh38:
- Chr22:42065859
| NAGA | R213H | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42459035
- GRCh38:
- Chr22:42063031
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42458929
- GRCh38:
- Chr22:42062925
| NAGA | R287C | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42458827
- GRCh38:
- Chr22:42062823
| NAGA | | not provided, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
| Benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42457036
- GRCh38:
- Chr22:42061032
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:42457016
- GRCh38:
- Chr22:42061012
| NAGA | L338S | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42456271
- GRCh38:
- Chr22:42060267
| NAGA | | not provided, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
| Benign
(Jun 29, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42456140
- GRCh38:
- Chr22:42060136
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, not provided, Alpha-N-acetylgalactosaminidase deficiency type 1
| Benign
(Dec 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42456128
- GRCh38:
- Chr22:42060124
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42456122
- GRCh38:
- Chr22:42060118
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, not provided, Alpha-N-acetylgalactosaminidase deficiency type 1
| Benign/Likely benign
(Jul 15, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42456107
- GRCh38:
- Chr22:42060103
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42456015
- GRCh38:
- Chr22:42060011
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42455728
- GRCh38:
- Chr22:42059724
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42455357
- GRCh38:
- Chr22:42059353
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42455248
- GRCh38:
- Chr22:42059244
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42455193
- GRCh38:
- Chr22:42059189
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42455031
- GRCh38:
- Chr22:42059027
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454984
- GRCh38:
- Chr22:42058980
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454950
- GRCh38:
- Chr22:42058946
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454782
- GRCh38:
- Chr22:42058778
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454587
- GRCh38:
- Chr22:42058583
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454494-42454495
- GRCh38:
- Chr22:42058490-42058491
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454494
- GRCh38:
- Chr22:42058490
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454469
- GRCh38:
- Chr22:42058465
| NAGA | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42454354
- GRCh38:
- Chr22:42058350
| NAGA, WBP2NL | | Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42461895
- GRCh38:
- Chr22:42065891
| NAGA | Y202* | Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 | Likely pathogenic
(Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42461918
- GRCh38:
- Chr22:42065914
| NAGA | | not specified, not provided, Alpha-N-acetylgalactosaminidase deficiency type 1,
Alpha-N-acetylgalactosaminidase deficiency type 2 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42463814
- GRCh38:
- Chr22:42067810
| LOC126863160, NAGA | | not specified, not provided, Alpha-N-acetylgalactosaminidase deficiency type 1,
Alpha-N-acetylgalactosaminidase deficiency type 2 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42457043
- GRCh38:
- Chr22:42061039
| NAGA | R329Q | NAGA-Related Disorders | Uncertain significance
(Aug 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42463140
- GRCh38:
- Chr22:42067136
| LOC126863160, NAGA | S160C | Alpha-N-acetylgalactosaminidase deficiency, not specified, not provided,
Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2 | Conflicting interpretations of pathogenicity
(Dec 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:42462734
- GRCh38:
- Chr22:42066730
| LOC126863160, NAGA | E193* | Alpha-N-acetylgalactosaminidase deficiency type 2 | Pathogenic
(Jun 1, 1996) | no assertion criteria provided |
| - GRCh37:
- Chr22:42457044
- GRCh38:
- Chr22:42061040
| NAGA | R329W | Alpha-N-acetylgalactosaminidase deficiency type 2 | Pathogenic
(Aug 1, 1994) | no assertion criteria provided |
| - GRCh37:
- Chr22:42457056
- GRCh38:
- Chr22:42061052
| NAGA | E325K | Alpha-N-acetylgalactosaminidase deficiency, not specified, Alpha-N-acetylgalactosaminidase deficiency type 2,
Alpha-N-acetylgalactosaminidase deficiency type 1, not provided, Alpha-N-acetylgalactosaminidase deficiency type 2,
Alpha-N-acetylgalactosaminidase deficiency type 1, See cases | Conflicting interpretations of pathogenicity
(Mar 30, 2023) | criteria provided, conflicting interpretations |