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Items: 1 to 100 of 338

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:69987065-69997137
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Likely pathogenic
(Aug 31, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr3:70013978-70014399
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Jul 22, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr3:69985874-69990502
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Pathogenic
(Jan 2, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr3:70013978-70014399
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Pathogenic
(Oct 21, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr3:69985874-70014399
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Pathogenic
(Sep 24, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr3:70014214
GRCh38:
Chr3:69965063
MITFE297Q, E353Q, E359Q, E408Q, E443Q, E444Q, E459Q, E460Q, E465Q, E466QMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Aug 19, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr3:69998250
GRCh38:
Chr3:69949099
MITFP220fs, P256fs, P272fs, P109fs, P165fs, P255fs, P271fsTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Pathogenic
(Jun 12, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr3:69985876
GRCh38:
Chr3:69936725
MITF, LOC107988030M1ITietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Jun 8, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr3:70014238
GRCh38:
Chr3:69965087
MITFP367S, P452S, P473S, P474S, P305S, P361S, P416S, P451S, P467S, P468STietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A
Uncertain significance
(Oct 21, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr3:69987182
GRCh38:
Chr3:69938031
MITFN136K, N187K, N188K, N171K, N172K, N81KWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome,
not provided
Uncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:70014201
GRCh38:
Chr3:69965050
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Oct 19, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr3:70005636
GRCh38:
Chr3:69956485
MITFD271G, D306G, D307G, D323G, D322G, D160G, D222G, D328G, D216G, D329GTietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A,
not provided
Uncertain significance
(Nov 10, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:70005602
GRCh38:
Chr3:69956451
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Jul 29, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr3:70014171
GRCh38:
Chr3:69965020
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8,
not provided
Uncertain significance
(May 4, 2023)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:70014114
GRCh38:
Chr3:69964963
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Apr 20, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr3:70014094
GRCh38:
Chr3:69964943
MITFP368S, P404S, P426S, P319S, P403S, P425S, P420S, P257S, P313S, P419STietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr3:70008408
GRCh38:
Chr3:69959257
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(May 5, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr3:70014133
GRCh38:
Chr3:69964982
MITFH270D, H416D, H432D, H438D, H439D, H326D, H332D, H433D, H381D, H417DTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(May 5, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr3:69985923
GRCh38:
Chr3:69936772
MITFWaardenburg syndrome type 2A, Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Aug 31, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr3:69990404
GRCh38:
Chr3:69941253
MITFWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Likely benign
(Apr 29, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr3:69987013
GRCh38:
Chr3:69937862
MITFQ132L, Q131L, Q25L, Q115L, Q116L, Q80LTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Apr 19, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr3:70008472
GRCh38:
Chr3:69959321
MITFWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Likely benign
(Apr 17, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr3:69985916
GRCh38:
Chr3:69936765
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Aug 7, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr3:69998318
GRCh38:
Chr3:69949167
MITFWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Uncertain significance
(Jun 19, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr3:70014169
GRCh38:
Chr3:69965018
MITFT282A, T428A, T338A, T429A, T444A, T393A, T445A, T451A, T344A, T450AMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Jun 21, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr3:69998339
GRCh38:
Chr3:69949188
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Likely benign
(Aug 22, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr3:69987012
GRCh38:
Chr3:69937861
MITFQ116E, Q131E, Q25E, Q115E, Q132E, Q80EMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Mar 27, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr3:69998205
GRCh38:
Chr3:69949054
MITFP204T, P256T, P149T, P255T, P93T, P239T, P240TWaardenburg syndrome type 2A, Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Mar 21, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr3:69987208
GRCh38:
Chr3:69938057
MITFWaardenburg syndrome type 2A, Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Mar 20, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr3:70014193
GRCh38:
Chr3:69965042
MITFN437D, N452D, N401D, N290D, N346D, N352D, N453D, N458D, N459D, N436DMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A,
not provided
Uncertain significance
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr3:70014331
GRCh38:
Chr3:69965180
MITFP336S, P499S, P504S, P505S, P398S, P447S, P483S, P498S, P392S, P482STietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Oct 15, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr3:70000948
GRCh38:
Chr3:69951797
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Likely benign
(Mar 13, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr3:70014083
GRCh38:
Chr3:69964932
MITFI421T, I253T, I309T, I315T, I415T, I422T, I364T, I399T, I400T, I416TMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Mar 13, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr3:69990482
GRCh38:
Chr3:69941331
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Sep 21, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr3:70008574
GRCh38:
Chr3:69959423
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Oct 7, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr3:69987093
GRCh38:
Chr3:69937942
MITFP107S, P52S, P159S, P142S, P143S, P158STietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Mar 4, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr3:70014097
GRCh38:
Chr3:69964946
MITFV258I, V320I, V369I, V405I, V426I, V427I, V404I, V421I, V314I, V420ITietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Oct 14, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr3:69998230
GRCh38:
Chr3:69949079
MITFL247P, L263P, L264P, L101P, L157P, L212P, L248PWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Uncertain significance
(Feb 24, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr3:70008526
GRCh38:
Chr3:69959375
MITFQ356H, Q371H, Q378H, Q320H, Q355H, Q209H, Q265H, Q372H, Q377H, Q271HWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Uncertain significance
(Feb 24, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr3:70008447
GRCh38:
Chr3:69959296
MITFT183I, T329I, T330I, T294I, T245I, T351I, T352I, T239I, T345I, T346IMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr3:70005615
GRCh38:
Chr3:69956464
MITFR264K, R299K, R300K, R153K, R322K, R209K, R315K, R316K, R321K, R215KMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Feb 21, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr3:69998186
GRCh38:
Chr3:69949035
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Likely benign
(Aug 31, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr3:70014014
GRCh38:
Chr3:69964863
MITFA230V, A376V, A392V, A399V, A292V, A398V, A286V, A341V, A393V, A377VTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Feb 19, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr3:70014359
GRCh38:
Chr3:69965208
MITFR456K, R513K, R345K, R407K, R492K, R491K, R507K, R401K, R508K, R514KTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Feb 12, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr3:69998212
GRCh38:
Chr3:69949061
MITFS151L, S241L, S206L, S242L, S257L, S258L, S95LTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Sep 15, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr3:70014124
GRCh38:
Chr3:69964973
MITFL267F, L436F, L323F, L429F, L430F, L329F, L378F, L413F, L414F, L435FMelanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A, Tietz syndrome
Uncertain significance
(May 31, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr3:70014234
GRCh38:
Chr3:69965083
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Likely benign
(Oct 26, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr3:70014320
GRCh38:
Chr3:69965169
MITFS332F, S478F, S494F, S388F, S479F, S500F, S501F, S394F, S443F, S495FMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Oct 10, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr3:70000982
GRCh38:
Chr3:69951831
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Jun 11, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr3:69990410
GRCh38:
Chr3:69941259
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Sep 19, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr3:69985902
GRCh38:
Chr3:69936751
MITFY10CMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Mar 12, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr3:70008582
GRCh38:
Chr3:69959431
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Likely benign
(May 6, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr3:69987112
GRCh38:
Chr3:69937961
MITFG148V, G149V, G164V, G58V, G113V, G165VMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Aug 21, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr3:69998198
GRCh38:
Chr3:69949047
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Likely benign
(Aug 21, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr3:70014222
GRCh38:
Chr3:69965071
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Likely benign
(Jun 15, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr3:69998256
GRCh38:
Chr3:69949105
MITFP221A, P256A, P272A, P273A, P110A, P166A, P257AWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Uncertain significance
(Feb 28, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr3:70008410
GRCh38:
Chr3:69959259
MITFWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Likely benign
(Oct 9, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr3:70005694
GRCh38:
Chr3:69956543
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Aug 23, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr3:69987137
GRCh38:
Chr3:69937986
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Jun 19, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr3:70005607
GRCh38:
Chr3:69956456
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Oct 26, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr3:70001000
GRCh38:
Chr3:69951849
MITFWaardenburg syndrome type 2A, Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Oct 9, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr3:70001035-70001040
GRCh38:
Chr3:69951884-69951889
MITFTietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A
Likely pathogenic
(Oct 8, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr3:70014396
GRCh38:
Chr3:69965245
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Jul 1, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr3:69988303-69988304
GRCh38:
Chr3:69939152-69939153
MITFS216fs, S53fs, S109fs, S200fs, S215fs, S164fs, S199fsTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Pathogenic
(Aug 31, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr3:69988226-69988237
GRCh38:
Chr3:69939075-69939086
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A, Tietz syndrome
Uncertain significance
(Aug 12, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr3:69990428
GRCh38:
Chr3:69941277
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Aug 3, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr3:69985908
GRCh38:
Chr3:69936757
MITFWaardenburg syndrome type 2A, Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Jul 30, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr3:69998203
GRCh38:
Chr3:69949052
MITFL203*, L254*, L148*, L239*, L255*, L238*, L92*Waardenburg syndrome type 2A, Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8
Pathogenic
(Aug 1, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr3:70008410
GRCh38:
Chr3:69959259
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Jul 14, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr3:70008407
GRCh38:
Chr3:69959256
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Jul 11, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr3:70014121
GRCh38:
Chr3:69964970
MITFL412V, L413V, L429V, L435V, L266V, L322V, L377V, L428V, L434V, L328VMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Jul 3, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr3:70000945
GRCh38:
Chr3:69951794
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Jul 7, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr3:69985892
GRCh38:
Chr3:69936741
MITFY7HTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Jun 22, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr3:70013991
GRCh38:
Chr3:69964840
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Likely benign
(Jun 13, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr3:69990401
GRCh38:
Chr3:69941250
MITFWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Likely benign
(Aug 19, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr3:70000972
GRCh38:
Chr3:69951821
MITFF190S, F297S, F296SMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(Jun 13, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr3:69990441
GRCh38:
Chr3:69941290
MITFI224V, I240V, I189V, I134V, I241V, I78V, I225VTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr3:70008529
GRCh38:
Chr3:69959378
MITFWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Likely benign
(Jun 1, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr3:70014355
GRCh38:
Chr3:69965204
MITFWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Likely benign
(May 25, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr3:69987158
GRCh38:
Chr3:69938007
MITFS179R, S163R, S73R, S128R, S164R, S180RMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Uncertain significance
(May 20, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr3:70001055
GRCh38:
Chr3:69951904
MITFMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A
Likely benign
(May 20, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr3:69990458
GRCh38:
Chr3:69941307
MITFWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Likely benign
(Oct 9, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr3:70013981
GRCh38:
Chr3:69964830
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Oct 13, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr3:70014258
GRCh38:
Chr3:69965107
MITFK422N, K458N, K311N, K480N, K367N, K373N, K457N, K473N, K474N, K479NTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(May 15, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr3:69998186
GRCh38:
Chr3:69949035
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Aug 12, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr3:69988246
GRCh38:
Chr3:69939095
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(May 15, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr3:69987068
GRCh38:
Chr3:69937917
MITFK134N, K98N, K149N, K43N, K133N, K150NTietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A
Uncertain significance
(Sep 26, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr3:69986987
GRCh38:
Chr3:69937836
MITFWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Likely benign
(Sep 15, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr3:70014297
GRCh38:
Chr3:69965146
MITFWaardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome
Likely benign
(Jul 6, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:70014274
GRCh38:
Chr3:69965123
MITFM373V, M428V, M463V, M464V, M480V, M379V, M485V, M486V, M317V, M479VTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Sep 6, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr3:69990495
GRCh38:
Chr3:69941344
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(May 5, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr3:69988344
GRCh38:
Chr3:69939193
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Benign
(Aug 24, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr3:70014376
GRCh38:
Chr3:69965225
MITFE497K, E498K, E351K, E407K, E413K, E462K, E513K, E514K, E519K, E520KTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Mar 6, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr3:70014251
GRCh38:
Chr3:69965100
MITFG365E, G455E, G420E, G478E, G472E, G309E, G371E, G456E, G471E, G477ETietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Jun 11, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr3:70014108
GRCh38:
Chr3:69964957
MITFN261K, N430K, N323K, N407K, N408K, N423K, N372K, N424K, N317K, N429KTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Aug 20, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr3:70005693
GRCh38:
Chr3:69956542
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Jul 26, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr3:69987211-69987215
GRCh38:
Chr3:69938060-69938064
MITFTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Likely benign
(Oct 4, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr3:69987114
GRCh38:
Chr3:69937963
MITFD150N, D59N, D166N, D114N, D149N, D165NTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Jun 22, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr3:70014295
GRCh38:
Chr3:69965144
MITFV493L, V487L, V380L, V435L, V471L, V486L, V324L, V386L, V470L, V492LTietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8
Uncertain significance
(Mar 19, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr3:69990458
GRCh38:
Chr3:69941307
MITFD229E, D139E, D194E, D230E, D245E, D246E, D83EMelanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A,
not provided
Uncertain significance
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
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