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Links from MedGen

Items: 1 to 100 of 105

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:23028625
GRCh38:
Chr20:23047988
THBDT506Nnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
Likely benign
(Jun 15, 2022)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr20:23028781
GRCh38:
Chr20:23048144
THBDV454Anot provided, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Conflicting interpretations of pathogenicity
(Sep 26, 2022)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr20:23028623
GRCh38:
Chr20:23047986
THBDP507SAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr20:23028823
GRCh38:
Chr20:23048186
THBDT440MAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
Uncertain significance
(Jun 16, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr20:23029895
GRCh38:
Chr20:23049258
THBDR83GAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
Uncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr20:23029962
GRCh38:
Chr20:23049325
THBDM60IAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
Uncertain significance
(Apr 15, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr20:23029853
GRCh38:
Chr20:23049216
THBDG97SAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
Uncertain significance
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr20:23029727
GRCh38:
Chr20:23049090
THBDA139Snot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
Uncertain significance
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr20:23028528
GRCh38:
Chr20:23047891
THBDH538QAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
Uncertain significance
(Sep 12, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr20:23028596
GRCh38:
Chr20:23047959
THBDG516Rnot provided, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Uncertain significance
(Jan 11, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr20:23028736
GRCh38:
Chr20:23048099
THBDD469Gnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder,
Thrombomodulin-related bleeding disorder
Uncertain significance
(Jul 8, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr20:23029276
GRCh38:
Chr20:23048639
THBDN289IThrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided
Uncertain significance
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr20:23029112
GRCh38:
Chr20:23048475
THBDQ344EThrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided
Uncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr20:23028643
GRCh38:
Chr20:23048006
THBDT500MAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
Uncertain significance
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr20:23030026
GRCh38:
Chr20:23049389
THBDY39Fnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
Uncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr20:23029244
GRCh38:
Chr20:23048607
THBDP300Snot provided, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Uncertain significance
(Jun 3, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr20:23029901
GRCh38:
Chr20:23049264
THBDV81IThrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided
Uncertain significance
(Jul 15, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr20:23028464
GRCh38:
Chr20:23047827
THBDE560Qnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
Uncertain significance
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr20:23029865
GRCh38:
Chr20:23049228
THBDP93Tnot provided, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Uncertain significance
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr20:23030023
GRCh38:
Chr20:23049386
THBDP40Lnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
Uncertain significance
(Jan 18, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr20:23030065
GRCh38:
Chr20:23049428
THBDG26Anot provided, Inborn genetic diseases, Thrombomodulin-related bleeding disorder,
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Uncertain significance
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr20:23028565
GRCh38:
Chr20:23047928
THBDL526PAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Feb 9, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr20:23028468
GRCh38:
Chr20:23047831
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr20:23028442
GRCh38:
Chr20:23047805
THBDR567QAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, Inborn genetic diseases, Thrombomodulin-related bleeding disorder,
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Uncertain significance
(Feb 1, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr20:23028413
GRCh38:
Chr20:23047776
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr20:23028387
GRCh38:
Chr20:23047750
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr20:23027143
GRCh38:
Chr20:23046506
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr20:23026909
GRCh38:
Chr20:23046272
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr20:23026895
GRCh38:
Chr20:23046258
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr20:23030127
GRCh38:
Chr20:23049490
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr20:23028245
GRCh38:
Chr20:23047608
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr20:23028184
GRCh38:
Chr20:23047547
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr20:23026569
GRCh38:
Chr20:23045932
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr20:23030070
GRCh38:
Chr20:23049433
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr20:23029840
GRCh38:
Chr20:23049203
THBDR101PThrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided,
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Uncertain significance
(May 25, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr20:23029795
GRCh38:
Chr20:23049158
THBDN116Tnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign/Likely benign
(Oct 12, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr20:23029599
GRCh38:
Chr20:23048962
THBDnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr20:23029257
GRCh38:
Chr20:23048620
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr20:23029245
GRCh38:
Chr20:23048608
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr20:23029244
GRCh38:
Chr20:23048607
THBDP300Tnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomalyConflicting interpretations of pathogenicity
(Aug 27, 2021)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr20:23029177
GRCh38:
Chr20:23048540
THBDR322Lnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomalyConflicting interpretations of pathogenicity
(Sep 20, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr20:23027905
GRCh38:
Chr20:23047268
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr20:23027903
GRCh38:
Chr20:23047266
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr20:23028937
GRCh38:
Chr20:23048300
THBDH402RAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr20:23027639
GRCh38:
Chr20:23047002
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr20:23027403
GRCh38:
Chr20:23046766
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr20:23027310
GRCh38:
Chr20:23046673
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr20:23029906
GRCh38:
Chr20:23049269
THBDG79AThrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided
Uncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr20:23029860
GRCh38:
Chr20:23049223
THBDnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomalyConflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr20:23028638
GRCh38:
Chr20:23048001
THBDG502Rnot specified, not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly,
Thrombomodulin-related bleeding disorder
Conflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr20:23029897
GRCh38:
Chr20:23049260
THBDG82fsAbnormal thrombosis, Atypical hemolytic-uremic syndrome with thrombomodulin anomalyLikely pathogenic
(Feb 1, 2019)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr20:23029459
GRCh38:
Chr20:23048822
THBDP228Lnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
Uncertain significance
(Sep 21, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr20:23028430
GRCh38:
Chr20:23047793
THBDT571MAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Apr 20, 2017)
no assertion criteria provided
54.
GRCh37:
Chr20:23030199
GRCh38:
Chr20:23049562
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, not providedBenign
(May 23, 2021)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr20:23030179
GRCh38:
Chr20:23049542
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr20:23030153
GRCh38:
Chr20:23049516
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyLikely benign
(Apr 27, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr20:23030102
GRCh38:
Chr20:23049465
THBDG14SAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, not providedBenign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr20:23029811
GRCh38:
Chr20:23049174
THBDV111IAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr20:23029486
GRCh38:
Chr20:23048849
THBDG219VAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr20:23029467
GRCh38:
Chr20:23048830
THBDnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomalyConflicting interpretations of pathogenicity
(Aug 9, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr20:23029426
GRCh38:
Chr20:23048789
THBDA239VAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr20:23029395
GRCh38:
Chr20:23048758
THBDN249KAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr20:23029222
GRCh38:
Chr20:23048585
THBDS307LAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, not providedConflicting interpretations of pathogenicity
(Jul 4, 2022)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr20:23029113
GRCh38:
Chr20:23048476
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, not providedBenign/Likely benign
(Oct 8, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr20:23029059
GRCh38:
Chr20:23048422
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided, Atypical hemolytic-uremic syndrome
Likely benign
(Jul 14, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr20:23029050
GRCh38:
Chr20:23048413
THBDnot specified, not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly,
Atypical hemolytic-uremic syndrome
Benign
(Aug 15, 2023)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr20:23028934
GRCh38:
Chr20:23048297
THBDR403KThrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly,
not provided
Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr20:23028724
GRCh38:
Chr20:23048087
THBDA473Vnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr20:23028640
GRCh38:
Chr20:23048003
THBDP501LAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided, Atypical hemolytic-uremic syndrome
Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr20:23028614
GRCh38:
Chr20:23047977
THBDV510Mnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr20:23028388
GRCh38:
Chr20:23047751
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr20:23028373
GRCh38:
Chr20:23047736
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomaly, not providedBenign
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr20:23028367
GRCh38:
Chr20:23047730
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr20:23028327
GRCh38:
Chr20:23047690
THBDnot provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(May 25, 2021)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr20:23028256
GRCh38:
Chr20:23047619
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyLikely benign
(Apr 27, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr20:23028137
GRCh38:
Chr20:23047500
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 12, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr20:23028093
GRCh38:
Chr20:23047456
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 13, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr20:23028089
GRCh38:
Chr20:23047452
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyLikely benign
(Jan 13, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr20:23028076
GRCh38:
Chr20:23047439
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr20:23028063
GRCh38:
Chr20:23047426
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 13, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr20:23027917
GRCh38:
Chr20:23047280
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr20:23027894
GRCh38:
Chr20:23047257
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 12, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr20:23027852
GRCh38:
Chr20:23047215
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr20:23027751
GRCh38:
Chr20:23047114
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr20:23027655
GRCh38:
Chr20:23047018
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr20:23027621
GRCh38:
Chr20:23046984
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 12, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr20:23027413
GRCh38:
Chr20:23046776
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 12, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr20:23027261
GRCh38:
Chr20:23046624
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr20:23027243
GRCh38:
Chr20:23046606
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 12, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr20:23027175
GRCh38:
Chr20:23046538
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr20:23027099
GRCh38:
Chr20:23046462
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr20:23026945
GRCh38:
Chr20:23046308
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr20:23026852
GRCh38:
Chr20:23046215
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 12, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr20:23026725
GRCh38:
Chr20:23046088
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr20:23026644
GRCh38:
Chr20:23046007
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 13, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr20:23026545
GRCh38:
Chr20:23045908
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr20:23026496
GRCh38:
Chr20:23045859
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 12, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr20:23026421
GRCh38:
Chr20:23045784
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 13, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr20:23026285
GRCh38:
Chr20:23045648
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 13, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr20:23026271
GRCh38:
Chr20:23045634
THBDAtypical hemolytic-uremic syndrome with thrombomodulin anomalyBenign
(Jan 13, 2018)
criteria provided, single submitter
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