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Links from MedGen

Items: 1 to 100 of 647

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:6415449
GRCh38:
Chr11:6394219
SMPD1D503VNiemann-Pick disease, type BLikely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr11:6415629
GRCh38:
Chr11:6394399
SMPD1R256Q, R519Q, R562Q, R563QNiemann-Pick disease, type B, Niemann-Pick disease, type AUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr11:6404342-6413015
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type APathogenic
(Dec 27, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr11:6414557
GRCh38:
Chr11:6393327
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Apr 8, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr11:6415536
GRCh38:
Chr11:6394306
SMPD1I488T, I532T, I531T, I225TNiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr11:6414916
GRCh38:
Chr11:6393686
SMPD1V401I, V444I, V445I, V138INiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr11:6413185
GRCh38:
Chr11:6391955
SMPD1A296V, A297VNiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr11:6415822
GRCh38:
Chr11:6394592
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Aug 2, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr11:6414555
GRCh38:
Chr11:6393325
SMPD1P401A, P400A, P94ANiemann-Pick disease, type B, Niemann-Pick disease, type AUncertain significance
(May 29, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr11:6415822
GRCh38:
Chr11:6394592
SMPD1R626S, R583S, R320S, R627SNiemann-Pick disease, type B, Niemann-Pick disease, type AUncertain significance
(Jun 19, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr11:6415487
GRCh38:
Chr11:6394257
SMPD1H516Y, H209Y, H472Y, H515YNiemann-Pick disease, type B, Niemann-Pick disease, type ALikely pathogenic
(Oct 13, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr11:6411934
GRCh38:
Chr11:6390704
SMPD1V36LNiemann-Pick disease, type B, Niemann-Pick disease, type AUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:6412771
GRCh38:
Chr11:6391541
SMPD1C159Y, C158YNiemann-Pick disease, type A, Niemann-Pick disease, type BLikely pathogenic
(Jan 26, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:6413236
GRCh38:
Chr11:6392006
SMPD1V313A, V314ANiemann-Pick disease, type A, Niemann-Pick disease, type BLikely pathogenic
(Mar 3, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:6412983
GRCh38:
Chr11:6391753
SMPD1R229S, R230SNiemann-Pick disease, type A, Niemann-Pick disease, type BLikely pathogenic
(Oct 13, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:6411984
GRCh38:
Chr11:6390754
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Dec 19, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr11:6415634
GRCh38:
Chr11:6394404
SMPD1D564N, D565N, D258N, D521NNiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Jan 10, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:6415670
GRCh38:
Chr11:6394440
SMPD1H270Y, H533Y, H576Y, H577YNiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:6414455
GRCh38:
Chr11:6393225
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Dec 18, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr11:6415114
GRCh38:
Chr11:6393884
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Oct 8, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:6413290
GRCh38:
Chr11:6392060
SMPD1P12T, P332H, P331HNiemann-Pick disease, type A, Niemann-Pick disease, type BLikely pathogenic
(Sep 26, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr11:6412043
GRCh38:
Chr11:6390813
SMPD1R72MNiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Mar 12, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:6411878
GRCh38:
Chr11:6390648
SMPD1R17QNiemann-Pick disease, type B, Niemann-Pick disease, type AUncertain significance
(Apr 4, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr11:6411930-6411931
GRCh38:
Chr11:6390700-6390701
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type AUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:6411975
GRCh38:
Chr11:6390745
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type ALikely benign
(Dec 29, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr11:6414486
GRCh38:
Chr11:6393256
SMPD1R71S, R378S, R377Snot specified, Niemann-Pick disease, type A, Niemann-Pick disease, type B
Conflicting interpretations of pathogenicity
(Jul 26, 2023)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr11:6412864
GRCh38:
Chr11:6391634
SMPD1P190L, P189LNiemann-Pick disease, type B, Niemann-Pick disease, type AUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:6414558
GRCh38:
Chr11:6393328
SMPD1A401T, A95T, A402TNiemann-Pick disease, type B, Niemann-Pick disease, type AUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:6413062
GRCh38:
Chr11:6391832
SMPD1L255P, L256PNiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:6415236
GRCh38:
Chr11:6394006
SMPD1A177V, A483V, A440V, A484VNiemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Jul 13, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:6414914
GRCh38:
Chr11:6393684
SMPD1I400N, I137N, I443N, I444NNiemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Oct 7, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:6414851
GRCh38:
Chr11:6393621
SMPD1H116R, H422R, H423R, H379RNiemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Oct 11, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:6414495
GRCh38:
Chr11:6393265
SMPD1S381P, S74P, S380PNiemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Apr 26, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:6413032
GRCh38:
Chr11:6391802
SMPD1G246fs, G247fsNiemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Jun 8, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:6412926
GRCh38:
Chr11:6391696
SMPD1W211R, W210RNiemann-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
36.
GRCh37:
Chr11:6415582
GRCh38:
Chr11:6394352
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(May 8, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:6412964
GRCh38:
Chr11:6391734
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(May 13, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:6414862
GRCh38:
Chr11:6393632
SMPD1H383Y, H427Y, H120Y, H426YNiemann-Pick disease, type A, Niemann-Pick disease, type BLikely pathogenic
(Apr 28, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr11:6411963
GRCh38:
Chr11:6390733
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(May 31, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:6412839
GRCh38:
Chr11:6391609
SMPD1T182A, T181ANiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:6412955
GRCh38:
Chr11:6391725
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Mar 31, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:6413128
GRCh38:
Chr11:6391898
SMPD1T277I, T278INiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:6411981
GRCh38:
Chr11:6390751
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Sep 22, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:6412076
GRCh38:
Chr11:6390846
SMPD1V83fsNiemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Mar 18, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:6415207
GRCh38:
Chr11:6393977
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Mar 3, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr11:6414498
GRCh38:
Chr11:6393268
SMPD1L381V, L382V, L75VNiemann-Pick disease, type A, Niemann-Pick disease, type BLikely pathogenic
(Feb 25, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:6411936
GRCh38:
Chr11:6390706
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Aug 4, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr11:6415498
GRCh38:
Chr11:6394268
SMPD1Y475*, Y212*, Y518*, Y519*Niemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Feb 2, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:6412062
GRCh38:
Chr11:6390832
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Jan 26, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr11:6411999
GRCh38:
Chr11:6390769
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Feb 8, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:6412997
GRCh38:
Chr11:6391767
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Jan 16, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr11:6415704
GRCh38:
Chr11:6394474
SMPD1T588K, T544K, T587K, T281KNiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr11:6411936-6411959
GRCh38:
Chr11:6390706-6390729
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr11:6415769
GRCh38:
Chr11:6394539
SMPD1R566C, R610C, R609C, R303Cnot provided, Niemann-Pick disease, type A, Niemann-Pick disease, type B
Conflicting interpretations of pathogenicity
(Aug 31, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr11:6412612
GRCh38:
Chr11:6391382
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:6415661
GRCh38:
Chr11:6394431
SMPD1F530V, F267V, F573V, F574VNiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:6414885-6414886
GRCh38:
Chr11:6393655-6393656
SMPD1S392fs, S129fs, S435fs, S436fsNiemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Jan 2, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr11:6413091
GRCh38:
Chr11:6391861
SMPD1L265V, L266VNiemann-Pick disease, type B, Niemann-Pick disease, type AUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:6415488
GRCh38:
Chr11:6394258
SMPD1H472L, H209L, H516L, H515LNiemann-Pick disease, type B, Niemann-Pick disease, type ALikely pathogenic
(Jun 9, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:6412907
GRCh38:
Chr11:6391677
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type ALikely benign
(Dec 19, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr11:6411930-6411931
GRCh38:
Chr11:6390700-6390701
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type AUncertain significance
(Apr 18, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:6415528
GRCh38:
Chr11:6394298
SMPD1G486fs, G529fs, G223fs, G530fsNiemann-Pick disease, type B, Niemann-Pick disease, type APathogenic
(Jul 6, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:6414894-6414895
GRCh38:
Chr11:6393664-6393665
SMPD1S394fs, S438fs, S131fs, S437fsNiemann-Pick disease, type B, Niemann-Pick disease, type APathogenic
(Oct 12, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:6412129
GRCh38:
Chr11:6390899
SMPD1I101fsNiemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Sep 27, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:6413378
GRCh38:
Chr11:6392148
SMPD1A41ENiemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Sep 19, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr11:6412994
GRCh38:
Chr11:6391764
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Sep 14, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:6415259
GRCh38:
Chr11:6394029
SMPD1G491R, G448R, G185R, G492RNiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr11:6415136-6415137
GRCh38:
Chr11:6393906-6393907
SMPD1L451fs, L452fs, L145fs, L408fsNiemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Aug 5, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr11:6413268
GRCh38:
Chr11:6392038
SMPD1P324S, P325SNiemann-Pick disease, type A, Niemann-Pick disease, type BLikely pathogenic
(Sep 22, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr11:6413060
GRCh38:
Chr11:6391830
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Jul 25, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:6411895
GRCh38:
Chr11:6390665
SMPD1T24fsNiemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Jul 22, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr11:6415795
GRCh38:
Chr11:6394565
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Jul 9, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr11:6411931-6411935
GRCh38:
Chr11:6390701-6390705
SMPD1L35fsNiemann-Pick disease, type A, Niemann-Pick disease, type BPathogenic
(Aug 2, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr11:6414503
GRCh38:
Chr11:6393273
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Jul 2, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:6411873
GRCh38:
Chr11:6390643
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Aug 4, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr11:6414522
GRCh38:
Chr11:6393292
SMPD1E390Q, E83Q, E389QNiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Jun 5, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr11:6414925
GRCh38:
Chr11:6393695
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type ALikely pathogenic
(May 11, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr11:6412986
GRCh38:
Chr11:6391756
SMPD1R231W, R230WNiemann-Pick disease, type B, Niemann-Pick disease, type AUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr11:6415459
GRCh38:
Chr11:6394229
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type ALikely benign
(Feb 28, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:6415579
GRCh38:
Chr11:6394349
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type ALikely benign
(Jun 17, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:6415828
GRCh38:
Chr11:6394598
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type ALikely benign
(Sep 22, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr11:6415258
GRCh38:
Chr11:6394028
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type ALikely benign
(Oct 13, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr11:6413289
GRCh38:
Chr11:6392059
SMPD1P331A, P332ANiemann-Pick disease, type A, Niemann-Pick disease, type BLikely pathogenic
(Mar 10, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr11:6415252
GRCh38:
Chr11:6394022
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Jan 17, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:6415483
GRCh38:
Chr11:6394253
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Jul 25, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:6411992
GRCh38:
Chr11:6390762
SMPD1L55HNiemann-Pick disease, type A, Niemann-Pick disease, type BUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr11:6413153
GRCh38:
Chr11:6391923
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Sep 19, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr11:6411972
GRCh38:
Chr11:6390742
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Jul 13, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr11:6412673
GRCh38:
Chr11:6391443
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Oct 20, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr11:6413060
GRCh38:
Chr11:6391830
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Dec 9, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr11:6414508
GRCh38:
Chr11:6393278
SMPD1N385I, N384I, N78INiemann-Pick disease, type A, Niemann-Pick disease, type BLikely pathogenic
(Sep 20, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:6414596
GRCh38:
Chr11:6393366
SMPD1Niemann-Pick disease, type A, Niemann-Pick disease, type BLikely benign
(Sep 22, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:6412697
GRCh38:
Chr11:6391467
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type ALikely benign
(Jul 22, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr11:6414941
GRCh38:
Chr11:6393711
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type ALikely benign
(Aug 14, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:6415495
GRCh38:
Chr11:6394265
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type ALikely benign
(Oct 5, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:6412942
GRCh38:
Chr11:6391712
SMPD1L215fs, L216fsNiemann-Pick disease, type BLikely pathogeniccriteria provided, single submitter
97.
GRCh37:
Chr11:6412002
GRCh38:
Chr11:6390772
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type A, Inborn genetic diseases
Likely benign
(May 28, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr11:6412811
GRCh38:
Chr11:6391581
SMPD1Niemann-Pick disease, type B, Niemann-Pick disease, type A, Inborn genetic diseases
Likely benign
(Mar 2, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr11:6414469
GRCh38:
Chr11:6393239
SMPD1P372fs, P373fs, P66fsNiemann-Pick disease, type B, Niemann-Pick disease, type APathogenic/Likely pathogenic
(Aug 29, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr11:6412122-6412123
GRCh38:
Chr11:6390892-6390893
SMPD1T99fsNiemann-Pick disease, type B, Niemann-Pick disease, type ALikely pathogenic
(Jan 2, 2022)
criteria provided, single submitter
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