| - GRCh37:
- Chr16:88893228
- GRCh38:
- Chr16:88826820
| GALNS | S156R, S341R, S347R | Mucopolysaccharidosis, MPS-IV-A | Likely pathogenic
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88909394
- GRCh38:
- Chr16:88842986
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Jan 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88909181
- GRCh38:
- Chr16:88842773
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88923255
- GRCh38:
- Chr16:88856847
| GALNS, TRAPPC2L | W11R | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88898432
- GRCh38:
- Chr16:88832024
| GALNS | W141R, W326R, W332R | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(May 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904108
- GRCh38:
- Chr16:88837700
| GALNS | P163L, P169L | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88923168
- GRCh38:
- Chr16:88856760
| TRAPPC2L, GALNS | D40Y | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88893161
- GRCh38:
- Chr16:88826753
| GALNS | I178T, I363T, I369T | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88908285-88908399
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(May 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88923211
- GRCh38:
- Chr16:88856803
| GALNS, TRAPPC2L | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88909147
- GRCh38:
- Chr16:88842739
| GALNS | N71D, N77D | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88902596
- GRCh38:
- Chr16:88836188
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88907509
- GRCh38:
- Chr16:88841101
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Feb 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88902642
- GRCh38:
- Chr16:88836234
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88902187
- GRCh38:
- Chr16:88835779
| GALNS | T241M, T50M, T235M | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88893198
- GRCh38:
- Chr16:88826790
| GALNS | A166S, A351S, A357S | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88901751
- GRCh38:
- Chr16:88835343
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904181
- GRCh38:
- Chr16:88837773
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88889053
- GRCh38:
- Chr16:88822645
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88898514
- GRCh38:
- Chr16:88832106
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88909253
- GRCh38:
- Chr16:88842845
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88908386
- GRCh38:
- Chr16:88841978
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88908315
- GRCh38:
- Chr16:88841907
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904078-88904080
- GRCh38:
- Chr16:88837670-88837672
| GALNS | N178del, N172del | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904019
- GRCh38:
- Chr16:88837611
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88901633
- GRCh38:
- Chr16:88835225
| GALNS | A111T, A296T, A302T | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88908372
- GRCh38:
- Chr16:88841964
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88901671
- GRCh38:
- Chr16:88835263
| GALNS | V98A, V289A, V283A | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88923181
- GRCh38:
- Chr16:88856773
| GALNS, TRAPPC2L | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88880885
- GRCh38:
- Chr16:88814477
| GALNS | P326S, P511S, P517S | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88891291
- GRCh38:
- Chr16:88824883
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88893090
- GRCh38:
- Chr16:88826682
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Benign
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88902633
- GRCh38:
- Chr16:88836225
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88909187
- GRCh38:
- Chr16:88842779
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88923153
- GRCh38:
- Chr16:88856745
| GALNS, TRAPPC2L | | Mucopolysaccharidosis, MPS-IV-A | Benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904189
- GRCh38:
- Chr16:88837781
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904065-88904103
- GRCh38:
- Chr16:88837657-88837695
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Pathogenic
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88880952
- GRCh38:
- Chr16:88814544
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88891174
- GRCh38:
- Chr16:88824766
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely pathogenic
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88904111
- GRCh38:
- Chr16:88837703
| GALNS | S162Y, S168Y | Mucopolysaccharidosis, MPS-IV-A | Pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904018
- GRCh38:
- Chr16:88837610
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88909185
- GRCh38:
- Chr16:88842777
| GALNS | N58S, N64S | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88880929
- GRCh38:
- Chr16:88814521
| GALNS | W311S, W502S, W496S | Mucopolysaccharidosis, MPS-IV-A | Likely pathogenic
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88902137
- GRCh38:
- Chr16:88835729
| GALNS | G67R, G252R, G258R | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88891257
- GRCh38:
- Chr16:88824849
| GALNS | G202D, G393D, G387D | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88909243
- GRCh38:
- Chr16:88842835
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88909145
- GRCh38:
- Chr16:88842737
| GALNS | N71K, N77K | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88902215-88902216
- GRCh38:
- Chr16:88835807-88835808
| GALNS | F41fs, F226fs, F232fs | Mucopolysaccharidosis, MPS-IV-A | Pathogenic
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88902130
- GRCh38:
- Chr16:88835722
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88908318
- GRCh38:
- Chr16:88841910
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904134
- GRCh38:
- Chr16:88837726
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88893262
- GRCh38:
- Chr16:88826854
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88909188
- GRCh38:
- Chr16:88842780
| GALNS | P57L, P63L | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88880885
- GRCh38:
- Chr16:88814477
| GALNS | P511A, P517A, P326A | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88893226
- GRCh38:
- Chr16:88826818
| GALNS | S156R, S341R, S347R | Mucopolysaccharidosis, MPS-IV-A | Pathogenic
(Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88923147
- GRCh38:
- Chr16:88856739
| TRAPPC2L, GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88893110
- GRCh38:
- Chr16:88826702
| GALNS | R380K, R195K, R386K | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88884424
- GRCh38:
- Chr16:88818016
| GALNS | W497*, W306*, W491* | Mucopolysaccharidosis, MPS-IV-A | Pathogenic
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88888982
- GRCh38:
- Chr16:88822574
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904017
- GRCh38:
- Chr16:88837609
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88923240
- GRCh38:
- Chr16:88856832
| TRAPPC2L, GALNS | V16L | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88902199
- GRCh38:
- Chr16:88835791
| GALNS | A237V, A231V, A46V | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88907408
- GRCh38:
- Chr16:88841000
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88891251
- GRCh38:
- Chr16:88824843
| GALNS | T204M, T389M, T395M | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88889091
- GRCh38:
- Chr16:88822683
| GALNS | V430I, V239I, V424I | Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904146
- GRCh38:
- Chr16:88837738
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88908383
- GRCh38:
- Chr16:88841975
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904142
- GRCh38:
- Chr16:88837734
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Pathogenic/Likely pathogenic
(Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88901684
- GRCh38:
- Chr16:88835276
| GALNS | D279fs, D285fs, D94fs | Mucopolysaccharidosis, MPS-IV-A | Likely pathogenic
(Dec 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88907448
- GRCh38:
- Chr16:88841040
| GALNS | P125fs, P131fs | Mucopolysaccharidosis, MPS-IV-A | Pathogenic
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904124
- GRCh38:
- Chr16:88837716
| GALNS | E158*, E164* | Mucopolysaccharidosis, MPS-IV-A | Pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88889120
- GRCh38:
- Chr16:88822712
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88884452
- GRCh38:
- Chr16:88818044
| GALNS | A297V, A482V, A488V | Mucopolysaccharidosis, MPS-IV-A | Likely pathogenic
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88901728
- GRCh38:
- Chr16:88835320
| GALNS | S264N, S270N, S79N | Mucopolysaccharidosis, MPS-IV-A | Likely pathogenic
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88898499
- GRCh38:
- Chr16:88832091
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88907423
- GRCh38:
- Chr16:88841015
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88907515
- GRCh38:
- Chr16:88841107
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88909255
- GRCh38:
- Chr16:88842847
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88923196
- GRCh38:
- Chr16:88856788
| TRAPPC2L, GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88891159
- GRCh38:
- Chr16:88824751
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88891240-88891241
- GRCh38:
- Chr16:88824832-88824833
| GALNS | A208S, A393S, A399S | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88884436
- GRCh38:
- Chr16:88818028
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88898528
- GRCh38:
- Chr16:88832120
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88891158
- GRCh38:
- Chr16:88824750
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88884536
- GRCh38:
- Chr16:88818128
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jan 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88902228
- GRCh38:
- Chr16:88835820
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88884552
- GRCh38:
- Chr16:88818144
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88884487
- GRCh38:
- Chr16:88818079
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Nov 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88888983
- GRCh38:
- Chr16:88822575
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88907383
- GRCh38:
- Chr16:88840975
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jun 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88889032
- GRCh38:
- Chr16:88822624
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88898395
- GRCh38:
- Chr16:88831987
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88904143
- GRCh38:
- Chr16:88837735
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88909253
- GRCh38:
- Chr16:88842845
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88893090
- GRCh38:
- Chr16:88826682
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Aug 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88923152
- GRCh38:
- Chr16:88856744
| GALNS, TRAPPC2L | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88902597
- GRCh38:
- Chr16:88836189
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88893166
- GRCh38:
- Chr16:88826758
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88893178
- GRCh38:
- Chr16:88826770
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Jan 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88884487
- GRCh38:
- Chr16:88818079
| GALNS | | Mucopolysaccharidosis, MPS-IV-A | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |