| - GRCh37:
- Chr11:1776246
- GRCh38:
- Chr11:1755016
| CTSD | | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10 | Likely benign
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1785059-1785060
- GRCh38:
- Chr11:1763829-1763830
| CTSD | L11fs | Neuronal ceroid lipofuscinosis 10 | Pathogenic
(Aug 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1776025
- GRCh38:
- Chr11:1754795
| CTSD | | not provided, Neuronal ceroid lipofuscinosis 10 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1785041
- GRCh38:
- Chr11:1763811
| CTSD | P17S | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774750
- GRCh38:
- Chr11:1753520
| CTSD | E408K | Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1780813
- GRCh38:
- Chr11:1759583
| CTSD | | Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis | Conflicting interpretations of pathogenicity
(Jun 6, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1780783
- GRCh38:
- Chr11:1759553
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774635
- GRCh38:
- Chr11:1753405
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774603
- GRCh38:
- Chr11:1753373
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774600
- GRCh38:
- Chr11:1753370
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774533
- GRCh38:
- Chr11:1753303
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774523
- GRCh38:
- Chr11:1753293
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774403
- GRCh38:
- Chr11:1753173
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774358
- GRCh38:
- Chr11:1753128
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774343
- GRCh38:
- Chr11:1753113
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774335
- GRCh38:
- Chr11:1753105
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1775105
- GRCh38:
- Chr11:1753875
| CTSD | | Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis | Conflicting interpretations of pathogenicity
(Apr 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1775070
- GRCh38:
- Chr11:1753840
| CTSD | K345R | Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis | Uncertain significance
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774239
- GRCh38:
- Chr11:1753009
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774224
- GRCh38:
- Chr11:1752994
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Feb 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774178
- GRCh38:
- Chr11:1752948
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774082
- GRCh38:
- Chr11:1752852
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774740
- GRCh38:
- Chr11:1753510
| CTSD | R411H | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, Inborn genetic diseases
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1776247
- GRCh38:
- Chr11:1755017
| CTSD | A239V | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Dec 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774789
- GRCh38:
- Chr11:1753559
| CTSD | T395A | Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis | Uncertain significance
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1778692
- GRCh38:
- Chr11:1757462
| CTSD | T189I | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1780815
- GRCh38:
- Chr11:1759585
| CTSD | V95I | not provided, not specified, Neuronal ceroid lipofuscinosis,
Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1776146
- GRCh38:
- Chr11:1754916
| CTSD | H273Y | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, not provided
| Uncertain significance
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1778570-1778572
- GRCh38:
- Chr11:1757340-1757342
| CTSD | F229del | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10 | Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1785142
- GRCh38:
- Chr11:1763912
| CTSD, LOC130005119 | | Neuronal ceroid lipofuscinosis 10 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1785136
- GRCh38:
- Chr11:1763906
| CTSD, LOC130005119 | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1785126
- GRCh38:
- Chr11:1763896
| CTSD, LOC130005119 | | not specified, Neuronal ceroid lipofuscinosis 10 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1785092
- GRCh38:
- Chr11:1763862
| CTSD, LOC130005119 | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1782677
- GRCh38:
- Chr11:1761447
| CTSD, PRADX | | Neuronal ceroid lipofuscinosis 10, not provided, Inborn genetic diseases,
Neuronal ceroid lipofuscinosis | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1782656
- GRCh38:
- Chr11:1761426
| CTSD, PRADX | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1778599
- GRCh38:
- Chr11:1757369
| CTSD | Q220P | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1778598
- GRCh38:
- Chr11:1757368
| CTSD | Q220H | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1775256
- GRCh38:
- Chr11:1754026
| CTSD | A314T | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1775250
- GRCh38:
- Chr11:1754020
| CTSD | G316R | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1775139
- GRCh38:
- Chr11:1753909
| CTSD | | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Nov 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774888
- GRCh38:
- Chr11:1753658
| CTSD | G362R | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774856
- GRCh38:
- Chr11:1753626
| CTSD | | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, not provided,
Inborn genetic diseases | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774675
- GRCh38:
- Chr11:1753445
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774666
- GRCh38:
- Chr11:1753436
| CTSD | | not provided, Neuronal ceroid lipofuscinosis 10 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774616
- GRCh38:
- Chr11:1753386
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774593
- GRCh38:
- Chr11:1753363
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774433
- GRCh38:
- Chr11:1753203
| CTSD | | not provided, Neuronal ceroid lipofuscinosis 10 | Benign
(Jul 7, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774391
- GRCh38:
- Chr11:1753161
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774377
- GRCh38:
- Chr11:1753147
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774375
- GRCh38:
- Chr11:1753145
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774330
- GRCh38:
- Chr11:1753100
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774159
- GRCh38:
- Chr11:1752929
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774136
- GRCh38:
- Chr11:1752906
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774079
- GRCh38:
- Chr11:1752849
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774039
- GRCh38:
- Chr11:1752809
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1773997
- GRCh38:
- Chr11:1752767
| CTSD | | Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774810
- GRCh38:
- Chr11:1753580
| CTSD | V388I | Inborn genetic diseases, not provided, Neuronal ceroid lipofuscinosis,
Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1775095
- GRCh38:
- Chr11:1753865
| CTSD | A337T | not provided, Neuronal ceroid lipofuscinosis, Inborn genetic diseases,
Neuronal ceroid lipofuscinosis 10 | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1775385
- GRCh38:
- Chr11:1754155
| CTSD | | not specified, not provided, Neuronal ceroid lipofuscinosis 10,
Neuronal ceroid lipofuscinosis | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774776
- GRCh38:
- Chr11:1753546
| CTSD | R399H | Neuronal ceroid lipofuscinosis | Uncertain significance
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1780224
- GRCh38:
- Chr11:1758994
| CTSD | G149V | Neuronal ceroid lipofuscinosis 10 | Pathogenic
(Nov 11, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr11:1775270
- GRCh38:
- Chr11:1754040
| CTSD | R309H | not provided, Neuronal ceroid lipofuscinosis, Inborn genetic diseases,
Neuronal ceroid lipofuscinosis 10 | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1785082
- GRCh38:
- Chr11:1763852
| CTSD, LOC130005119 | P3L | Inborn genetic diseases, not provided, Neuronal ceroid lipofuscinosis,
Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774853
- GRCh38:
- Chr11:1753623
| CTSD | M373I | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1775268
- GRCh38:
- Chr11:1754038
| CTSD | E310K | Neuronal ceroid lipofuscinosis, not provided, Neuronal ceroid lipofuscinosis 10
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1778628
- GRCh38:
- Chr11:1757398
| CTSD | | Inborn genetic diseases, not specified, Neuronal ceroid lipofuscinosis 10,
Neuronal ceroid lipofuscinosis | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1785076
- GRCh38:
- Chr11:1763846
| CTSD, LOC130005119 | S5T | Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, not provided
| Uncertain significance
(Aug 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1782613
- GRCh38:
- Chr11:1761383
| CTSD, PRADX | V52I | not provided, Neuronal ceroid lipofuscinosis 10, Inborn genetic diseases,
Neuronal ceroid lipofuscinosis | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1776123
- GRCh38:
- Chr11:1754893
| CTSD | | not specified, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1778619
- GRCh38:
- Chr11:1757389
| CTSD | | Inborn genetic diseases, not specified, not provided,
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10 | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1785113
- GRCh38:
- Chr11:1763883
| LOC130005119, CTSD | | not specified, Neuronal ceroid lipofuscinosis 10 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1780329
- GRCh38:
- Chr11:1759099
| CTSD | | Inborn genetic diseases, not specified, Neuronal ceroid lipofuscinosis,
Neuronal ceroid lipofuscinosis 10 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1780858
- GRCh38:
- Chr11:1759628
| CTSD | | Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 10,
not specified | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1782614
- GRCh38:
- Chr11:1761384
| CTSD, PRADX | | Inborn genetic diseases, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10,
not specified | Benign/Likely benign
(Apr 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774714
- GRCh38:
- Chr11:1753484
| CTSD | | not specified, Neuronal ceroid lipofuscinosis 10 | Benign
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1775021
- GRCh38:
- Chr11:1753791
| CTSD | | not specified, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1775026
- GRCh38:
- Chr11:1753796
| CTSD | | not specified, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1775245
- GRCh38:
- Chr11:1754015
| CTSD | | Inborn genetic diseases, Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis,
not specified | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1775284
- GRCh38:
- Chr11:1754054
| CTSD | | Inborn genetic diseases, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10,
not specified, not provided | Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:1775387
- GRCh38:
- Chr11:1754157
| CTSD | | not specified, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1775352
- GRCh38:
- Chr11:1754122
| CTSD | G282R | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, not specified,
Inborn genetic diseases, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1780205
- GRCh38:
- Chr11:1758975
| CTSD | | Neuronal ceroid lipofuscinosis 10, not specified, Neuronal ceroid lipofuscinosis,
Inborn genetic diseases, not provided | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1780867
- GRCh38:
- Chr11:1759637
| CTSD | | Inborn genetic diseases, Neuronal ceroid lipofuscinosis, not specified,
not provided, Neuronal ceroid lipofuscinosis 10 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1782578
- GRCh38:
- Chr11:1761348
| CTSD, PRADX | | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, not provided,
Inborn genetic diseases, not specified | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1782594
- GRCh38:
- Chr11:1761364
| CTSD, PRADX | A58V | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, not specified,
not provided, Inborn genetic diseases | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774757
- GRCh38:
- Chr11:1753527
| CTSD | | Inborn genetic diseases, not specified, Neuronal ceroid lipofuscinosis,
Neuronal ceroid lipofuscinosis 10, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1774907
- GRCh38:
- Chr11:1753677
| CTSD | | not specified, not provided, Neuronal ceroid lipofuscinosis,
Neuronal ceroid lipofuscinosis 10 | Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| | CTSD | | Neuronal ceroid lipofuscinosis 10 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:1780200
- GRCh38:
- Chr11:1758970
| CTSD | S157L | Inborn genetic diseases, not specified, Neuronal ceroid lipofuscinosis,
Neuronal ceroid lipofuscinosis 10 | Uncertain significance
(Aug 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:1776198-1776199
- GRCh38:
- Chr11:1754968-1754969
| CTSD | Y255* | Neuronal ceroid lipofuscinosis 10 | Pathogenic
(Jun 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr11:1774823
- GRCh38:
- Chr11:1753593
| CTSD | W383C | Neuronal ceroid lipofuscinosis 10 | Pathogenic
(Jun 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr11:1778573
- GRCh38:
- Chr11:1757343
| CTSD | F229I | Neuronal ceroid lipofuscinosis 10 | Pathogenic
(Jun 1, 2006) | no assertion criteria provided |