| - GRCh37:
- Chr11:6415617
- GRCh38:
- Chr11:6394387
| SMPD1 | V252E, V515E, V558E, V559E | Niemann-Pick disease, type A | Pathogenic
(Apr 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415175
- GRCh38:
- Chr11:6393945
| SMPD1 | E157*, E420*, E463*, E464* | Niemann-Pick disease, type A | Uncertain significance
(Mar 1, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr11:6415629
- GRCh38:
- Chr11:6394399
| SMPD1 | R256Q, R519Q, R562Q, R563Q | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6404342-6413015
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Pathogenic
(Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414557
- GRCh38:
- Chr11:6393327
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415536
- GRCh38:
- Chr11:6394306
| SMPD1 | I488T, I532T, I531T, I225T | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414916
- GRCh38:
- Chr11:6393686
| SMPD1 | V401I, V444I, V445I, V138I | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413185
- GRCh38:
- Chr11:6391955
| SMPD1 | A296V, A297V | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415822
- GRCh38:
- Chr11:6394592
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414555
- GRCh38:
- Chr11:6393325
| SMPD1 | P401A, P400A, P94A | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Uncertain significance
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415822
- GRCh38:
- Chr11:6394592
| SMPD1 | R626S, R583S, R320S, R627S | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Uncertain significance
(Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415487
- GRCh38:
- Chr11:6394257
| SMPD1 | H516Y, H209Y, H472Y, H515Y | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely pathogenic
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411934
- GRCh38:
- Chr11:6390704
| SMPD1 | V36L | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412771
- GRCh38:
- Chr11:6391541
| SMPD1 | C159Y, C158Y | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely pathogenic
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413236
- GRCh38:
- Chr11:6392006
| SMPD1 | V313A, V314A | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely pathogenic
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412983
- GRCh38:
- Chr11:6391753
| SMPD1 | R229S, R230S | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely pathogenic
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411984
- GRCh38:
- Chr11:6390754
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415634
- GRCh38:
- Chr11:6394404
| SMPD1 | D564N, D565N, D258N, D521N | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Jan 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415670
- GRCh38:
- Chr11:6394440
| SMPD1 | H270Y, H533Y, H576Y, H577Y | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414455
- GRCh38:
- Chr11:6393225
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415114
- GRCh38:
- Chr11:6393884
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413290
- GRCh38:
- Chr11:6392060
| SMPD1 | P12T, P332H, P331H | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely pathogenic
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412043
- GRCh38:
- Chr11:6390813
| SMPD1 | R72M | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411878
- GRCh38:
- Chr11:6390648
| SMPD1 | R17Q | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Uncertain significance
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411930-6411931
- GRCh38:
- Chr11:6390700-6390701
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411975
- GRCh38:
- Chr11:6390745
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely benign
(Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414486
- GRCh38:
- Chr11:6393256
| SMPD1 | R71S, R378S, R377S | not specified, Niemann-Pick disease, type A, Niemann-Pick disease, type B
| Conflicting interpretations of pathogenicity
(Jul 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:6412864
- GRCh38:
- Chr11:6391634
| SMPD1 | P190L, P189L | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414558
- GRCh38:
- Chr11:6393328
| SMPD1 | A401T, A95T, A402T | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413062
- GRCh38:
- Chr11:6391832
| SMPD1 | L255P, L256P | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415236
- GRCh38:
- Chr11:6394006
| SMPD1 | A177V, A483V, A440V, A484V | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414914
- GRCh38:
- Chr11:6393684
| SMPD1 | I400N, I137N, I443N, I444N | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414851
- GRCh38:
- Chr11:6393621
| SMPD1 | H116R, H422R, H423R, H379R | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414495
- GRCh38:
- Chr11:6393265
| SMPD1 | S381P, S74P, S380P | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413032
- GRCh38:
- Chr11:6391802
| SMPD1 | G246fs, G247fs | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412926
- GRCh38:
- Chr11:6391696
| SMPD1 | W211R, W210R | Niemann-Pick disease, type A, Niemann-Pick disease, type B, Niemann-Pick disease, type A
| Likely pathogenic
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:6415582
- GRCh38:
- Chr11:6394352
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412964
- GRCh38:
- Chr11:6391734
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414862
- GRCh38:
- Chr11:6393632
| SMPD1 | H383Y, H427Y, H120Y, H426Y | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely pathogenic
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411963
- GRCh38:
- Chr11:6390733
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412839
- GRCh38:
- Chr11:6391609
| SMPD1 | T182A, T181A | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412955
- GRCh38:
- Chr11:6391725
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413128
- GRCh38:
- Chr11:6391898
| SMPD1 | T277I, T278I | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411981
- GRCh38:
- Chr11:6390751
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412076
- GRCh38:
- Chr11:6390846
| SMPD1 | V83fs | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415207
- GRCh38:
- Chr11:6393977
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414498
- GRCh38:
- Chr11:6393268
| SMPD1 | L381V, L382V, L75V | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely pathogenic
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411936
- GRCh38:
- Chr11:6390706
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415498
- GRCh38:
- Chr11:6394268
| SMPD1 | Y475*, Y212*, Y518*, Y519* | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412062
- GRCh38:
- Chr11:6390832
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411999
- GRCh38:
- Chr11:6390769
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412997
- GRCh38:
- Chr11:6391767
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415704
- GRCh38:
- Chr11:6394474
| SMPD1 | T588K, T544K, T587K, T281K | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411936-6411959
- GRCh38:
- Chr11:6390706-6390729
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415769
- GRCh38:
- Chr11:6394539
| SMPD1 | R566C, R610C, R609C, R303C | not provided, Niemann-Pick disease, type A, Niemann-Pick disease, type B
| Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:6412612
- GRCh38:
- Chr11:6391382
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415661
- GRCh38:
- Chr11:6394431
| SMPD1 | F530V, F267V, F573V, F574V | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414885-6414886
- GRCh38:
- Chr11:6393655-6393656
| SMPD1 | S392fs, S129fs, S435fs, S436fs | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413091
- GRCh38:
- Chr11:6391861
| SMPD1 | L265V, L266V | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Uncertain significance
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415488
- GRCh38:
- Chr11:6394258
| SMPD1 | H472L, H209L, H516L, H515L | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely pathogenic
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412907
- GRCh38:
- Chr11:6391677
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely benign
(Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411930-6411931
- GRCh38:
- Chr11:6390700-6390701
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Uncertain significance
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415528
- GRCh38:
- Chr11:6394298
| SMPD1 | G486fs, G529fs, G223fs, G530fs | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Pathogenic
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414894-6414895
- GRCh38:
- Chr11:6393664-6393665
| SMPD1 | S394fs, S438fs, S131fs, S437fs | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Pathogenic
(Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412129
- GRCh38:
- Chr11:6390899
| SMPD1 | I101fs | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413378
- GRCh38:
- Chr11:6392148
| SMPD1 | A41E | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412994
- GRCh38:
- Chr11:6391764
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415259
- GRCh38:
- Chr11:6394029
| SMPD1 | G491R, G448R, G185R, G492R | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415136-6415137
- GRCh38:
- Chr11:6393906-6393907
| SMPD1 | L451fs, L452fs, L145fs, L408fs | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413268
- GRCh38:
- Chr11:6392038
| SMPD1 | P324S, P325S | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely pathogenic
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413060
- GRCh38:
- Chr11:6391830
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411895
- GRCh38:
- Chr11:6390665
| SMPD1 | T24fs | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415795
- GRCh38:
- Chr11:6394565
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411931-6411935
- GRCh38:
- Chr11:6390701-6390705
| SMPD1 | L35fs | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Pathogenic
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414503
- GRCh38:
- Chr11:6393273
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411873
- GRCh38:
- Chr11:6390643
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414522
- GRCh38:
- Chr11:6393292
| SMPD1 | E390Q, E83Q, E389Q | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414925
- GRCh38:
- Chr11:6393695
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely pathogenic
(May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412986
- GRCh38:
- Chr11:6391756
| SMPD1 | R231W, R230W | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415459
- GRCh38:
- Chr11:6394229
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely benign
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415579
- GRCh38:
- Chr11:6394349
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely benign
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415828
- GRCh38:
- Chr11:6394598
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415258
- GRCh38:
- Chr11:6394028
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413289
- GRCh38:
- Chr11:6392059
| SMPD1 | P331A, P332A | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely pathogenic
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415252
- GRCh38:
- Chr11:6394022
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415483
- GRCh38:
- Chr11:6394253
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411992
- GRCh38:
- Chr11:6390762
| SMPD1 | L55H | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413153
- GRCh38:
- Chr11:6391923
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6411972
- GRCh38:
- Chr11:6390742
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412673
- GRCh38:
- Chr11:6391443
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413060
- GRCh38:
- Chr11:6391830
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414508
- GRCh38:
- Chr11:6393278
| SMPD1 | N385I, N384I, N78I | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely pathogenic
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414596
- GRCh38:
- Chr11:6393366
| SMPD1 | | Niemann-Pick disease, type A, Niemann-Pick disease, type B | Likely benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412697
- GRCh38:
- Chr11:6391467
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely benign
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6414941
- GRCh38:
- Chr11:6393711
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely benign
(Aug 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6415495
- GRCh38:
- Chr11:6394265
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Likely benign
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6413386
- GRCh38:
- Chr11:6392156
| SMPD1 | G44S, R363K, R364K | Niemann-Pick disease, type A | Likely pathogenic
(Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:6412002
- GRCh38:
- Chr11:6390772
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A, Inborn genetic diseases
| Likely benign
(May 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:6412811
- GRCh38:
- Chr11:6391581
| SMPD1 | | Niemann-Pick disease, type B, Niemann-Pick disease, type A, Inborn genetic diseases
| Likely benign
(Mar 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:6414469
- GRCh38:
- Chr11:6393239
| SMPD1 | P372fs, P373fs, P66fs | Niemann-Pick disease, type B, Niemann-Pick disease, type A | Pathogenic/Likely pathogenic
(Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |