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Links from MedGen

Items: 98

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:65564281
GRCh38:
Chr12:65170501
LEMD3G303fsDermatofibrosis lenticularis disseminataPathogenic
(Jun 11, 2020)
criteria provided, single submitter
2.
GRCh37:
Chr12:65633914
GRCh38:
Chr12:65240134
LEMD3Dermatofibrosis lenticularis disseminataPathogenic
(May 25, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr12:65633781
GRCh38:
Chr12:65240001
LEMD3Q664R, Q665RDermatofibrosis lenticularis disseminataLikely pathogeniccriteria provided, single submitter
4.
GRCh37:
Chr12:65632481-65632485
GRCh38:
Chr12:65238701-65238705
LEMD3T602fs, T603fsnot provided, Dermatofibrosis lenticularis disseminataPathogenic/Likely pathogenic
(Oct 26, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr12:65609788-65609791
GRCh38:
Chr12:65216008-65216011
LEMD3Y531fs, Y532fsDermatofibrosis lenticularis disseminataLikely pathogenic
(Sep 7, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr12:65634825
GRCh38:
Chr12:65241045
LEMD3D754N, D755Nnot provided, Dermatofibrosis lenticularis disseminata, Inborn genetic diseases
Uncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr12:65632284
GRCh38:
Chr12:65238504
LEMD3Dermatofibrosis lenticularis disseminataPathogenic
(Sep 9, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr12:65641096
GRCh38:
Chr12:65247316
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr12:65641004
GRCh38:
Chr12:65247224
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr12:65604739
GRCh38:
Chr12:65210959
LEMD3I519R, I518RDermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr12:65564769
GRCh38:
Chr12:65170989
LEMD3T465ADermatofibrosis lenticularis disseminataLikely benign
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr12:65564680
GRCh38:
Chr12:65170900
LEMD3T435Nnot provided, Dermatofibrosis lenticularis disseminataLikely benign
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:65564581
GRCh38:
Chr12:65170801
LEMD3S402Fnot provided, Dermatofibrosis lenticularis disseminataBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr12:65563405
GRCh38:
Chr12:65169625
LEMD3Q10LDermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr12:65640493
GRCh38:
Chr12:65246713
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr12:65640493
GRCh38:
Chr12:65246713
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr12:65640341
GRCh38:
Chr12:65246561
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr12:65564484
GRCh38:
Chr12:65170704
LEMD3, LOC130008225P370TDermatofibrosis lenticularis disseminata, not providedUncertain significance
(Sep 17, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr12:65564477
GRCh38:
Chr12:65170697
LEMD3, LOC130008225not provided, Dermatofibrosis lenticularis disseminataConflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr12:65564475
GRCh38:
Chr12:65170695
LEMD3, LOC130008225L367Fnot provided, Inborn genetic diseases, Dermatofibrosis lenticularis disseminata
Conflicting interpretations of pathogenicity
(Aug 20, 2022)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr12:65564434
GRCh38:
Chr12:65170654
LEMD3P353RDermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr12:65642030
GRCh38:
Chr12:65248250
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr12:65640110
GRCh38:
Chr12:65246330
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr12:65640017
GRCh38:
Chr12:65246237
LEMD3T882N, T883NDermatofibrosis lenticularis disseminataUncertain significance
(Mar 2, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr12:65639955
GRCh38:
Chr12:65246175
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr12:65633990
GRCh38:
Chr12:65240210
LEMD3R699C, R700Cnot provided, Dermatofibrosis lenticularis disseminataConflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr12:65563877
GRCh38:
Chr12:65170097
LEMD3not provided, Dermatofibrosis lenticularis disseminataConflicting interpretations of pathogenicity
(Jan 11, 2021)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr12:65641560
GRCh38:
Chr12:65247780
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr12:65641544
GRCh38:
Chr12:65247764
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr12:65641499
GRCh38:
Chr12:65247719
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr12:65612335
GRCh38:
Chr12:65218555
LEMD3D544A, D543ADermatofibrosis lenticularis disseminata, not providedUncertain significance
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr12:65609782
GRCh38:
Chr12:65216002
LEMD3N528S, N529Snot provided, Dermatofibrosis lenticularis disseminataUncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr12:65563675
GRCh38:
Chr12:65169895
LEMD3, LOC130008224Y100Fnot provided, Inborn genetic diseases, Dermatofibrosis lenticularis disseminata
Uncertain significance
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr12:65564726
GRCh38:
Chr12:65170946
LEMD3not provided, Dermatofibrosis lenticularis disseminataBenign/Likely benign
(Oct 12, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr12:65563415
GRCh38:
Chr12:65169635
LEMD3not provided, Dermatofibrosis lenticularis disseminataLikely benign
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr12:65634871
GRCh38:
Chr12:65241091
LEMD3not provided, Dermatofibrosis lenticularis disseminataBenign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr12:65563404
GRCh38:
Chr12:65169624
LEMD3Q10*Dermatofibrosis lenticularis disseminataUncertain significance
(Nov 30, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr12:65637231-65637232
GRCh38:
Chr12:65243451-65243452
LEMD3M790fs, M791fsDermatofibrosis lenticularis disseminataLikely pathogenic
(Nov 1, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr12:65632474
GRCh38:
Chr12:65238694
LEMD3E601*, E600*Dermatofibrosis lenticularis disseminata, not providedPathogenic/Likely pathogenic
(Jan 12, 2023)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:65564706
GRCh38:
Chr12:65170926
LEMD3P444ADermatofibrosis lenticularis disseminata, not provided, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Oct 14, 2022)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr12:65563608-65563631
GRCh38:
Chr12:65169828-65169851
LEMD3not specified, not provided, Dermatofibrosis lenticularis disseminata
Likely benign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr12:65633986
GRCh38:
Chr12:65240206
LEMD3H698Q, H697QDermatofibrosis lenticularis disseminataUncertain significance
(Apr 19, 2018)
no assertion criteria provided
43.
GRCh37:
Chr12:65637193
GRCh38:
Chr12:65243413
LEMD3not specified, not provided, Dermatofibrosis lenticularis disseminata
Likely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr12:65642056
GRCh38:
Chr12:65248276
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr12:65642006
GRCh38:
Chr12:65248226
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr12:65641985
GRCh38:
Chr12:65248205
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr12:65641864
GRCh38:
Chr12:65248084
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr12:65641740
GRCh38:
Chr12:65247960
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr12:65641586
GRCh38:
Chr12:65247806
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr12:65641494
GRCh38:
Chr12:65247714
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr12:65641410
GRCh38:
Chr12:65247630
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr12:65641400
GRCh38:
Chr12:65247620
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr12:65641261
GRCh38:
Chr12:65247481
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr12:65641246
GRCh38:
Chr12:65247466
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr12:65641020
GRCh38:
Chr12:65247240
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr12:65641007
GRCh38:
Chr12:65247227
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr12:65641000
GRCh38:
Chr12:65247220
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 13, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr12:65640989
GRCh38:
Chr12:65247209
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr12:65640895
GRCh38:
Chr12:65247115
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr12:65640793
GRCh38:
Chr12:65247013
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr12:65640760
GRCh38:
Chr12:65246980
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr12:65640681
GRCh38:
Chr12:65246901
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr12:65640581
GRCh38:
Chr12:65246801
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 12, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr12:65640330
GRCh38:
Chr12:65246550
LEMD3Dermatofibrosis lenticularis disseminataBenign
(Jan 12, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr12:65640251
GRCh38:
Chr12:65246471
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr12:65640027
GRCh38:
Chr12:65246247
LEMD3not provided, Dermatofibrosis lenticularis disseminataBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr12:65639929
GRCh38:
Chr12:65246149
LEMD3not provided, Dermatofibrosis lenticularis disseminataConflicting interpretations of pathogenicity
(Mar 22, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr12:65632486
GRCh38:
Chr12:65238706
LEMD3I605V, I604VDermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr12:65632306
GRCh38:
Chr12:65238526
LEMD3I574V, I573Vnot provided, Dermatofibrosis lenticularis disseminataUncertain significance
(Jun 19, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr12:65632291
GRCh38:
Chr12:65238511
LEMD3P569S, P568Snot provided, Dermatofibrosis lenticularis disseminataUncertain significance
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:65612407
GRCh38:
Chr12:65218627
LEMD3not provided, Dermatofibrosis lenticularis disseminataBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr12:65612321
GRCh38:
Chr12:65218541
LEMD3not provided, Dermatofibrosis lenticularis disseminataBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr12:65609835-65609837
GRCh38:
Chr12:65216055-65216057
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr12:65604694
GRCh38:
Chr12:65210914
LEMD3not provided, Dermatofibrosis lenticularis disseminataBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr12:65564530
GRCh38:
Chr12:65170750
LEMD3S385CDermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr12:65564451
GRCh38:
Chr12:65170671
LOC130008225, LEMD3V359IDermatofibrosis lenticularis disseminata, not providedConflicting interpretations of pathogenicity
(Sep 6, 2022)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr12:65564439
GRCh38:
Chr12:65170659
LEMD3P355SInborn genetic diseases, not provided, Dermatofibrosis lenticularis disseminata
Conflicting interpretations of pathogenicity
(Sep 19, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr12:65564403
GRCh38:
Chr12:65170623
LEMD3G343RDermatofibrosis lenticularis disseminataUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr12:65564324
GRCh38:
Chr12:65170544
LEMD3not provided, Dermatofibrosis lenticularis disseminataBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr12:65564258
GRCh38:
Chr12:65170478
LEMD3not provided, Dermatofibrosis lenticularis disseminataConflicting interpretations of pathogenicity
(May 21, 2022)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr12:65564126
GRCh38:
Chr12:65170346
LEMD3Dermatofibrosis lenticularis disseminataLikely benign
(Jan 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr12:65564049
GRCh38:
Chr12:65170269
LEMD3E225Qnot provided, Dermatofibrosis lenticularis disseminataUncertain significance
(Mar 11, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr12:65564016
GRCh38:
Chr12:65170236
LEMD3D214Ynot provided, Dermatofibrosis lenticularis disseminataUncertain significance
(Nov 16, 2021)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr12:65563994
GRCh38:
Chr12:65170214
LEMD3not provided, Dermatofibrosis lenticularis disseminataConflicting interpretations of pathogenicity
(Jul 19, 2022)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr12:65563756
GRCh38:
Chr12:65169976
LEMD3, LOC130008224A127VDermatofibrosis lenticularis disseminata, not providedUncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr12:65563754
GRCh38:
Chr12:65169974
LEMD3, LOC130008224not provided, Dermatofibrosis lenticularis disseminataBenign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr12:65563725
GRCh38:
Chr12:65169945
LOC130008224, LEMD3S117Gnot provided, Dermatofibrosis lenticularis disseminataUncertain significance
(Aug 22, 2021)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr12:65563721
GRCh38:
Chr12:65169941
LOC130008224, LEMD3Dermatofibrosis lenticularis disseminata, not providedConflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr12:65563712
GRCh38:
Chr12:65169932
LEMD3, LOC130008224not specified, Dermatofibrosis lenticularis disseminata, not provided
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr12:65563462
GRCh38:
Chr12:65169682
LEMD3G29Anot provided, Dermatofibrosis lenticularis disseminataUncertain significance
(Aug 7, 2021)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr12:65563371
GRCh38:
Chr12:65169591
LEMD3Dermatofibrosis lenticularis disseminataUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr12:65563658
GRCh38:
Chr12:65169878
LEMD3, LOC130008224not provided, Dermatofibrosis lenticularis disseminataConflicting interpretations of pathogenicity
(Jun 27, 2022)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr12:65564283
GRCh38:
Chr12:65170503
LEMD3G303Cnot specified, not provided, Dermatofibrosis lenticularis disseminata
Likely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr12:65604753
GRCh38:
Chr12:65210973
LEMD3not provided, not specified, Dermatofibrosis lenticularis disseminata
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr12:65639711
GRCh38:
Chr12:65245931
LEMD3W855*, W854*Dermatofibrosis lenticularis disseminataPathogenic
(Jun 1, 2009)
no assertion criteria provided
96.
GRCh37:
Chr12:65634715-65634716
GRCh38:
Chr12:65240935-65240936
LEMD3A718fs, A719fsOsteopoikilosis, Dermatofibrosis lenticularis disseminataPathogenic
(Nov 1, 2004)
no assertion criteria provided
97.
GRCh37:
Chr12:65564408-65564409
GRCh38:
Chr12:65170628-65170629
LEMD3C346fsDermatofibrosis lenticularis disseminataPathogenic
(Nov 1, 2004)
no assertion criteria provided
98.
GRCh37:
Chr12:65564409-65564411
GRCh38:
Chr12:65170629-65170631
LEMD3G345fsDermatofibrosis lenticularis disseminataPathogenic
(Nov 1, 2004)
no assertion criteria provided
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