| - GRCh37:
- Chr8:43024386-43028855
| HGSNAT | | Sanfilippo syndrome | Likely pathogenic
(Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65122781
- GRCh38:
- Chr12:64729001
| GNS | D385E | Mucopolysaccharidosis, MPS-III-D | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65137090
- GRCh38:
- Chr12:64743310
| GNS | | Mucopolysaccharidosis, MPS-III-D | Likely pathogenic
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65137015
- GRCh38:
- Chr12:64743235
| GNS | A233V | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65137037
- GRCh38:
- Chr12:64743257
| GNS | F226V | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65152897
- GRCh38:
- Chr12:64759117
| GNS | T54A | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65122789
- GRCh38:
- Chr12:64729009
| GNS | G383S | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Jan 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65110562
- GRCh38:
- Chr12:64716782
| GNS | G540S | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:43048899
- GRCh38:
- Chr8:43193756
| HGSNAT | | Sanfilippo syndrome | Pathogenic
(Feb 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65139502
- GRCh38:
- Chr12:64745722
| GNS | | Mucopolysaccharidosis, MPS-III-D | Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65134411
- GRCh38:
- Chr12:64740631
| GNS | F284L | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65115494
- GRCh38:
- Chr12:64721714
| GNS | | Sanfilippo syndrome | Uncertain significance
(Aug 17, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr12:65110517-65110518
- GRCh38:
- Chr12:64716737-64716738
| GNS | | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Feb 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65133282
- GRCh38:
- Chr12:64739502
| GNS | | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65152940
- GRCh38:
- Chr12:64759160
| GNS | | Mucopolysaccharidosis, MPS-III-D | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:43047462-43047463
- GRCh38:
- Chr8:43192319-43192320
| HGSNAT | I361fs, I137fs, I425fs | Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C, Sanfilippo syndrome
| Pathogenic
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65153052
- GRCh38:
- Chr12:64759272
| GNS | R2P | Inborn genetic diseases, Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65133187
- GRCh38:
- Chr12:64739407
| GNS | Y323C | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65116784
- GRCh38:
- Chr12:64723004
| GNS | | Mucopolysaccharidosis, MPS-III-D | Likely pathogenic
(Oct 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65136922
- GRCh38:
- Chr12:64743142
| GNS | T264M | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65130856
- GRCh38:
- Chr12:64737076
| GNS | | Mucopolysaccharidosis, MPS-III-D | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65122823
- GRCh38:
- Chr12:64729043
| GNS | | Mucopolysaccharidosis, MPS-III-D | Benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65113930
- GRCh38:
- Chr12:64720150
| GNS | | Mucopolysaccharidosis, MPS-III-D | Likely benign
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65113804
- GRCh38:
- Chr12:64720024
| GNS | | Mucopolysaccharidosis, MPS-III-D | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65152925
- GRCh38:
- Chr12:64759145
| GNS | | Mucopolysaccharidosis, MPS-III-D | Likely benign
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65153027
- GRCh38:
- Chr12:64759247
| GNS | | Mucopolysaccharidosis, MPS-III-D | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65139496
- GRCh38:
- Chr12:64745716
| GNS | | Mucopolysaccharidosis, MPS-III-D | Likely benign
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65134477
- GRCh38:
- Chr12:64740697
| GNS | | Mucopolysaccharidosis, MPS-III-D | Likely benign
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65138636
- GRCh38:
- Chr12:64744856
| GNS | R193W | Mucopolysaccharidosis, MPS-III-D | Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:65137031
- GRCh38:
- Chr12:64743251
| GNS | M228V | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65137025
- GRCh38:
- Chr12:64743245
| GNS | A230T | Mucopolysaccharidosis, MPS-III-D | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:43024359
- GRCh38:
- Chr8:43169216
| HGSNAT | R203* | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73, Sanfilippo syndrome
| Pathogenic
(Aug 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43052991
- GRCh38:
- Chr8:43197848
| HGSNAT | S541L, S477L, S253L, S570L | Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C, Mucopolysaccharidosis, MPS-III-C,
Sanfilippo syndrome, Retinal dystrophy | Pathogenic/Likely pathogenic
(Jul 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43047466
- GRCh38:
- Chr8:43192323
| HGSNAT | G424S, G360S, G136S | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C,
Sanfilippo syndrome | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:43033312
- GRCh38:
- Chr8:43178169
| HGSNAT | W316*, W28* | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C,
Sanfilippo syndrome | Pathogenic/Likely pathogenic
(Oct 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43052142
- GRCh38:
- Chr8:43196999
| HGSNAT | R506*, R218*, R535*, R442* | not provided, Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73,
Mucopolysaccharidosis, MPS-III-C, Sanfilippo syndrome | Pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43046638
- GRCh38:
- Chr8:43191495
| HGSNAT | R384*, R96*, R320* | not provided, Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C,
Sanfilippo syndrome, Mucopolysaccharidosis, MPS-III-C | Pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65141708
- GRCh38:
- Chr12:64747928
| GNS | | Mucopolysaccharidosis, MPS-III-D, not specified | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:40695621
- GRCh38:
- Chr17:42543603
| NAGLU | R533* | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V, Sanfilippo syndrome,
not provided, Inborn genetic diseases, Mucopolysaccharidosis, MPS-III-B
| Pathogenic/Likely pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65116832
- GRCh38:
- Chr12:64723052
| GNS | R421H | Mucopolysaccharidosis, MPS-III-D, not provided | Uncertain significance
(Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43025833
- GRCh38:
- Chr8:43170690
| HGSNAT | R247fs | Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C, not provided,
Sanfilippo syndrome, Mucopolysaccharidosis, MPS-III-C | Pathogenic
(Feb 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65152980
- GRCh38:
- Chr12:64759200
| GNS | L26P | not provided, Inborn genetic diseases | Uncertain significance
(Mar 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43047463
- GRCh38:
- Chr8:43192320
| HGSNAT | G423W, G359W, G135W | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73, Sanfilippo syndrome,
not provided, Retinal dystrophy, Mucopolysaccharidosis, MPS-III-C
| Conflicting interpretations of pathogenicity
(Aug 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:78187651
- GRCh38:
- Chr17:80213852
| SGSH | R233* | not provided, Sanfilippo syndrome, Mucopolysaccharidosis, MPS-III-A
| Pathogenic/Likely pathogenic
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43057747-43057748
- GRCh38:
- Chr8:43202604-43202605
| HGSNAT | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr8:43055809-43055812
- GRCh38:
- Chr8:43200666-43200669
| HGSNAT | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr8:43046725
- GRCh38:
- Chr8:43191582
| HGSNAT | P413S, P349S, P125S | Inborn genetic diseases, Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C,
Retinitis pigmentosa 73, not specified, Sanfilippo syndrome,
Mucopolysaccharidosis, MPS-III-C | Conflicting interpretations of pathogenicity
(Nov 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:42995603
- GRCh38:
- Chr8:43140460
| HGSNAT, LOC130000316 | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:78194135
- GRCh38:
- Chr17:80220336
| LOC130061900, SGSH | | Sanfilippo syndrome, Mucopolysaccharidosis, MPS-III-A | Uncertain significance
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:78191006-78191009
- GRCh38:
- Chr17:80217207-80217210
| SGSH | | Mucopolysaccharidosis, MPS-III-A, Sanfilippo syndrome | Conflicting interpretations of pathogenicity
(Dec 25, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:78184432
- GRCh38:
- Chr17:80210633
| SGSH | R443Q | Inborn genetic diseases, Sanfilippo syndrome, Mucopolysaccharidosis, MPS-III-A
| Conflicting interpretations of pathogenicity
(Dec 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:40696451
- GRCh38:
- Chr17:42544433
| NAGLU | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:40688213
- GRCh38:
- Chr17:42536195
| LOC130060903, NAGLU | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:40688210
- GRCh38:
- Chr17:42536192
| LOC130060903, NAGLU | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:40688209
- GRCh38:
- Chr17:42536191
| LOC130060903, NAGLU | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:40688153
- GRCh38:
- Chr17:42536135
| NAGLU | | not provided, Sanfilippo syndrome | Benign/Likely benign
(Apr 20, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:40688147
- GRCh38:
- Chr17:42536129
| NAGLU | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:40688124
- GRCh38:
- Chr17:42536106
| NAGLU | | not provided, Sanfilippo syndrome | Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:40688091
- GRCh38:
- Chr17:42536073
| NAGLU | | Sanfilippo syndrome, not provided | Likely benign
(Jun 29, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:40688079
- GRCh38:
- Chr17:42536061
| NAGLU | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:40688063
- GRCh38:
- Chr17:42536045
| NAGLU | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:40688020
- GRCh38:
- Chr17:42536002
| LOC130060902, NAGLU | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:40688016
- GRCh38:
- Chr17:42535998
| LOC130060902, NAGLU | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65153223-65153224
- GRCh38:
- Chr12:64759443-64759444
| GNS | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65153217
- GRCh38:
- Chr12:64759437
| GNS | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65153080-65153081
- GRCh38:
- Chr12:64759300-64759301
| GNS | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65141666
- GRCh38:
- Chr12:64747886
| GNS | | Mucopolysaccharidosis, MPS-III-D | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:65138579
- GRCh38:
- Chr12:64744799
| GNS | | Mucopolysaccharidosis, MPS-III-D | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:65110530
- GRCh38:
- Chr12:64716750
| GNS | | Mucopolysaccharidosis, MPS-III-D, not provided | Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65110202
- GRCh38:
- Chr12:64716422
| GNS | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65108660
- GRCh38:
- Chr12:64714880
| GNS | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65107909-65107910
- GRCh38:
- Chr12:64714129-64714130
| GNS | | Sanfilippo syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65107734
- GRCh38:
- Chr12:64713954
| GNS | | Sanfilippo syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65107451-65107452
- GRCh38:
- Chr12:64713671-64713672
| GNS | | Sanfilippo syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:65153036
- GRCh38:
- Chr12:64759256
| GNS | | not specified, Mucopolysaccharidosis, MPS-III-D | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:78184625
- GRCh38:
- Chr17:80210826
| SGSH | V379fs | Mucopolysaccharidosis, MPS-III-A, not provided, Sanfilippo syndrome
| Pathogenic
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43048933
- GRCh38:
- Chr8:43193790
| HGSNAT | E471K, E183K, E407K | Sanfilippo syndrome, Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C,
not provided | Pathogenic
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65110582
- GRCh38:
- Chr12:64716802
| GNS | R533H | not provided, not specified, Mucopolysaccharidosis, MPS-III-D
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:78184732-78184733
- GRCh38:
- Chr17:80210933-80210934
| SGSH | L343fs | Sanfilippo syndrome, not provided, Inborn genetic diseases,
Mucopolysaccharidosis, MPS-III-A | Pathogenic/Likely pathogenic
(Feb 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65153053
- GRCh38:
- Chr12:64759273
| GNS | R2W | not specified, not provided, Mucopolysaccharidosis, MPS-III-D
| Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:43046739
- GRCh38:
- Chr8:43191596
| HGSNAT | | Sanfilippo syndrome, Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73,
Retinitis pigmentosa 73, Retinal dystrophy, not provided,
Mucopolysaccharidosis, MPS-III-C | Pathogenic/Likely pathogenic
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65141588
- GRCh38:
- Chr12:64747808
| GNS | | not specified, Mucopolysaccharidosis, MPS-III-D | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:65146532
- GRCh38:
- Chr12:64752752
| GNS | | not specified, not provided, Mucopolysaccharidosis, MPS-III-D
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43002207
- GRCh38:
- Chr8:43147064
| HGSNAT | | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73, Retinal dystrophy,
Sanfilippo syndrome, not provided, Mucopolysaccharidosis, MPS-III-C
| Pathogenic
(Jan 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:40695718
- GRCh38:
- Chr17:42543700
| NAGLU | R565Q | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B, Sanfilippo syndrome,
not provided | Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:78185927
- GRCh38:
- Chr17:80212128
| SGSH | S298P | Sanfilippo syndrome, not provided, Mucopolysaccharidosis, MPS-III-A
| Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:78190883
- GRCh38:
- Chr17:80217084
| SGSH | S66W | Sanfilippo syndrome, Inborn genetic diseases, not provided,
Mucopolysaccharidosis, MPS-III-A | Pathogenic
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:78187614
- GRCh38:
- Chr17:80213815
| CARD14, SGSH | R245H | SGSH-related condition, Inborn genetic diseases, Sanfilippo syndrome,
not provided, Mucopolysaccharidosis, MPS-III-A | Pathogenic
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43037305
- GRCh38:
- Chr8:43182162
| HGSNAT | R344C, R280C, R56C | Sanfilippo syndrome, Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73,
not provided, Mucopolysaccharidosis, MPS-III-C | Pathogenic/Likely pathogenic
(Jan 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43014064
- GRCh38:
- Chr8:43158921
| HGSNAT | | Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C, Sanfilippo syndrome
| Pathogenic
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43048967
- GRCh38:
- Chr8:43193824
| HGSNAT | M482K, M418K, M194K | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73, Sanfilippo syndrome
| Likely pathogenic
(Jul 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43028883
- GRCh38:
- Chr8:43173740
| HGSNAT | P283L | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73, Sanfilippo syndrome,
not provided | Pathogenic/Likely pathogenic
(Aug 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:43014188
- GRCh38:
- Chr8:43159045
| HGSNAT | | Inborn genetic diseases, Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C,
Sanfilippo syndrome, Mucopolysaccharidosis, MPS-III-C | Pathogenic
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |