U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 373

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:202074150
GRCh38:
Chr2:201209427
CASP10Q360R, Q384R, Q427RAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jan 27, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr2:202082441
GRCh38:
Chr2:201217718
CASP10P449A, P473A, P516AAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jan 26, 2020)
criteria provided, single submitter
3.
GRCh37:
Chr2:202052409-202052542
CASP10Autoimmune lymphoproliferative syndrome type 2AUncertain significance
(Sep 3, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr2:202050501-202052542
CASP10Autoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr2:202060545-202060691
CASP10Autoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr2:202060680
GRCh38:
Chr2:201195957
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Sep 24, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr2:202060602
GRCh38:
Chr2:201195879
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Dec 21, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr2:202052465-202052466
GRCh38:
Chr2:201187742-201187743
CASP10N130fsAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jun 18, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr2:202060577
GRCh38:
Chr2:201195854
CASP10V197AAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Feb 11, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr2:202074296
GRCh38:
Chr2:201209573
CASP10Autoimmune lymphoproliferative syndrome type 2ABenign
(Apr 8, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr2:202073964
GRCh38:
Chr2:201209241
CASP10Y365S, Y298S, Y322SAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(May 27, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:202070644
GRCh38:
Chr2:201205921
CASP10M256fsAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr2:202060580
GRCh38:
Chr2:201195857
CASP10T198KAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jan 16, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr2:202074009
GRCh38:
Chr2:201209286
CASP10H313R, H337R, H380RAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(May 29, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr2:202073909
GRCh38:
Chr2:201209186
CASP10D280N, D347N, D304NAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr2:202050826
GRCh38:
Chr2:201186103
CASP10R109PAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Dec 24, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr2:202057814
GRCh38:
Chr2:201193091
CASP10N184fsAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jun 12, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr2:202074031
GRCh38:
Chr2:201209308
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Oct 25, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr2:202050809
GRCh38:
Chr2:201186086
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(May 7, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr2:202050749
GRCh38:
Chr2:201186026
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Aug 23, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr2:202070635
GRCh38:
Chr2:201205912
CASP10L251PAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Mar 31, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr2:202050858
GRCh38:
Chr2:201186135
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Mar 26, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr2:202068454
GRCh38:
Chr2:201203731
CASP10Q229LAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr2:202052497
GRCh38:
Chr2:201187774
CASP10K139TAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr2:202052500
GRCh38:
Chr2:201187777
CASP10D140AAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Feb 25, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr2:202057794
GRCh38:
Chr2:201193071
CASP10V177IAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr2:202072869
GRCh38:
Chr2:201208146
CASP10L265FAutoimmune lymphoproliferative syndrome type 2ALikely benign
(Jan 21, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr2:202060644
GRCh38:
Chr2:201195921
CASP10D219EAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Feb 22, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr2:202060628
GRCh38:
Chr2:201195905
CASP10L214RAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr2:202050863
GRCh38:
Chr2:201186140
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Jan 13, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr2:202070602
GRCh38:
Chr2:201205879
CASP10Autoimmune lymphoproliferative syndrome type 2AUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr2:202068496
GRCh38:
Chr2:201203773
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Jan 5, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr2:202082414
GRCh38:
Chr2:201217691
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Apr 29, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr2:202074068
GRCh38:
Chr2:201209345
CASP10A357T, A400T, A333TAutoimmune lymphoproliferative syndrome type 2A, CASP10-related conditionUncertain significance
(Aug 18, 2023)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:202074003
GRCh38:
Chr2:201209280
CASP10M378T, M335T, M311TAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Sep 21, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr2:202060562
GRCh38:
Chr2:201195839
CASP10Autoimmune lymphoproliferative syndrome type 2AUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr2:202052541
GRCh38:
Chr2:201187818
CASP10Autoimmune lymphoproliferative syndrome type 2AUncertain significance
(Dec 21, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr2:202057849
GRCh38:
Chr2:201193126
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Oct 3, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr2:202082446
GRCh38:
Chr2:201217723
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Oct 8, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr2:202072782
GRCh38:
Chr2:201208059
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Sep 10, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr2:202070699
GRCh38:
Chr2:201205976
CASP10Autoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jun 12, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr2:202050711
GRCh38:
Chr2:201185988
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Aug 19, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr2:202050751
GRCh38:
Chr2:201186028
CASP10Y84CAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr2:202050760
GRCh38:
Chr2:201186037
CASP10R87QAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr2:202070671
GRCh38:
Chr2:201205948
CASP10T263SAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Oct 1, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr2:202057764
GRCh38:
Chr2:201193041
CASP10L167VAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Oct 14, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr2:202057809
GRCh38:
Chr2:201193086
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Oct 2, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr2:202074069
GRCh38:
Chr2:201209346
CASP10A333V, A357V, A400VAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Dec 18, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr2:202050814
GRCh38:
Chr2:201186091
CASP10L105QAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Aug 11, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr2:202050803
GRCh38:
Chr2:201186080
CASP10E101DAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Aug 11, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr2:202070628
GRCh38:
Chr2:201205905
CASP10P249SAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr2:202060686
GRCh38:
Chr2:201195963
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Feb 28, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr2:202060691
GRCh38:
Chr2:201195968
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Feb 14, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr2:202074218
GRCh38:
Chr2:201209495
CASP10Autoimmune lymphoproliferative syndrome type 2AUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr2:202074257
GRCh38:
Chr2:201209534
CASP10C463S, C396S, C420SInborn genetic diseases, Autoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jul 11, 2023)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr2:202074179
GRCh38:
Chr2:201209456
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(May 20, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr2:202073956
GRCh38:
Chr2:201209233
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Jun 18, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr2:202073938
GRCh38:
Chr2:201209215
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Jun 6, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr2:202070626
GRCh38:
Chr2:201205903
CASP10A248VAutoimmune lymphoproliferative syndrome type 2A, Inborn genetic diseasesUncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:202060675
GRCh38:
Chr2:201195952
CASP10Autoimmune lymphoproliferative syndrome type 2AUncertain significance
(Sep 15, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr2:202060573-202060574
GRCh38:
Chr2:201195850-201195851
CASP10I196fsAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr2:202074219
GRCh38:
Chr2:201209496
CASP10R450Q, R407Q, R383QAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Nov 16, 2023)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr2:202060571
GRCh38:
Chr2:201195848
CASP10Q195RAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Oct 23, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr2:202073794
GRCh38:
Chr2:201209071
CASP10E241D, E265D, E308DAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Sep 20, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr2:202074246
GRCh38:
Chr2:201209523
CASP10I392S, I416S, I459SAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr2:202070674
GRCh38:
Chr2:201205951
CASP10L264PAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr2:202082396
GRCh38:
Chr2:201217673
CASP10Q435fs, Q459fs, Q502fsAutoimmune lymphoproliferative syndrome type 2APathogenic
(May 4, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr2:202082298
GRCh38:
Chr2:201217575
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Jul 12, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr2:202074196
GRCh38:
Chr2:201209473
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Sep 14, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr2:202050626
GRCh38:
Chr2:201185903
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Apr 27, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr2:202070588
GRCh38:
Chr2:201205865
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Feb 9, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr2:202082368
GRCh38:
Chr2:201217645
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Apr 14, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr2:202073776
GRCh38:
Chr2:201209053
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Feb 5, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr2:202050734
GRCh38:
Chr2:201186011
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Dec 23, 2020)
criteria provided, single submitter
75.
GRCh37:
Chr2:202057854
GRCh38:
Chr2:201193131
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Aug 19, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr2:202052409-202052410
GRCh38:
Chr2:201187686-201187687
CASP10Autoimmune lymphoproliferative syndrome type 2ABenign
(Oct 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr2:202073938
GRCh38:
Chr2:201209215
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Nov 5, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr2:202057850
GRCh38:
Chr2:201193127
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Oct 27, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr2:202073798
GRCh38:
Chr2:201209075
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Jun 15, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr2:202060608
GRCh38:
Chr2:201195885
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Jun 25, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr2:202082294
GRCh38:
Chr2:201217571
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Oct 16, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr2:202073775
GRCh38:
Chr2:201209052
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Aug 31, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr2:202082307
GRCh38:
Chr2:201217584
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Aug 23, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr2:202050590
GRCh38:
Chr2:201185867
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Feb 25, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr2:202072925
GRCh38:
Chr2:201208202
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Sep 17, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr2:202073923
GRCh38:
Chr2:201209200
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Oct 12, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr2:202074295-202074296
GRCh38:
Chr2:201209572-201209573
CASP10Autoimmune lymphoproliferative syndrome type 2ABenign
(Apr 7, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr2:202070590
GRCh38:
Chr2:201205867
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Oct 17, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr2:202074265
GRCh38:
Chr2:201209542
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Jun 29, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr2:202073983
GRCh38:
Chr2:201209260
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Jul 15, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr2:202072789
GRCh38:
Chr2:201208066
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Sep 7, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr2:202072896
GRCh38:
Chr2:201208173
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Sep 3, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr2:202070705
GRCh38:
Chr2:201205982
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Aug 10, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr2:202052471
GRCh38:
Chr2:201187748
CASP10Autoimmune lymphoproliferative syndrome type 2ALikely benign
(Jul 21, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr2:202070659
GRCh38:
Chr2:201205936
CASP10A259VAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Nov 13, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr2:202070666-202070667
GRCh38:
Chr2:201205943-201205944
CASP10N262fsAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr2:202070646
GRCh38:
Chr2:201205923
CASP10G255RAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr2:202050582
GRCh38:
Chr2:201185859
CASP10D28HAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr2:202060585
GRCh38:
Chr2:201195862
CASP10P200SAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr2:202074225
GRCh38:
Chr2:201209502
CASP10V452A, V385A, V409AAutoimmune lymphoproliferative syndrome type 2AUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination