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Links from MedGen

Items: 56

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr22:24145555-24145556
GRCh38:
Chr22:23803368-23803369
SMARCB1D187fs, D196fs, D205fs, D214fsRhabdoid tumor predisposition syndrome 1Pathogenic
(Apr 11, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr22:24158969
GRCh38:
Chr22:23816782
SMARCB1T205R, T214R, T223R, T232Rnot provided, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 1
Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr22:24175832-24175833
GRCh38:
Chr22:23833645-23833646
SMARCB1E354fs, E363fs, E372fs, E345fsRhabdoid tumor predisposition syndrome 1Pathogenic
(Oct 1, 2018)		criteria provided, single submitter
4.
GRCh37:
Chr22:24143240
GRCh38:
Chr22:23801053
SMARCB1R149*, R158*Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 1, not provided
Pathogenic
(Oct 12, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr22:24143274
GRCh38:
Chr22:23801087
SMARCB1G160A, G169Anot provided, Rhabdoid tumor predisposition syndrome 1Uncertain significance
(May 23, 2023)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr22:24176467
GRCh38:
Chr22:23834280
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
7.
GRCh37:
Chr22:24176400
GRCh38:
Chr22:23834213
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Benign
(Jan 12, 2018)		criteria provided, single submitter
8.
GRCh37:
Chr22:24129326
GRCh38:
Chr22:23787139
SMARCB1not provided, Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1
Benign/Likely benign
(Jun 22, 2018)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr22:24129274
GRCh38:
Chr22:23787087
SMARCB1Rhabdoid tumor predisposition syndrome 1, Schwannomatosis 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr22:24175898
GRCh38:
Chr22:23833711
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr22:24176674
GRCh38:
Chr22:23834487
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr22:24158961
GRCh38:
Chr22:23816774
SMARCB1not provided, Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1
Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
13.
GRCh37:
Chr22:24129173
GRCh38:
Chr22:23786986
SMARCB1not provided, Rhabdoid tumor predisposition syndrome 1, Schwannomatosis 1
Benign/Likely benign
(Apr 10, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr22:24176564
GRCh38:
Chr22:23834377
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr22:24176526
GRCh38:
Chr22:23834339
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr22:24167426
GRCh38:
Chr22:23825239
SMARCB1G271fs, G280fs, G262fs, G289fsRhabdoid tumor predisposition syndrome 1Pathogenic
(Aug 8, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr22:24175753-24176373
GRCh38:
Chr22:23833566-23834186
SMARCB1Rhabdoid tumor predisposition syndrome 1Likely pathogenic
(Dec 11, 2017)		criteria provided, single submitter
18.
GRCh37:
Chr22:24135822
GRCh38:
Chr22:23793635
SMARCB1Hereditary cancer-predisposing syndrome, Schwannomatosis 1, not provided,
Rhabdoid tumor predisposition syndrome 1		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr22:24159132
GRCh38:
Chr22:23816945
SMARCB1not provided, Rhabdoid tumor predisposition syndrome 1Likely benign
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr22:24134033
GRCh38:
Chr22:23791846
SMARCB1K62*Rhabdoid tumor predisposition syndrome 1Pathogenic
(Feb 27, 2017)		criteria provided, single submitter
21.
GRCh37:
Chr22:24143125-24176373
SMARCB1Rhabdoid tumor predisposition syndrome 1Uncertain significance
(Jul 25, 2017)		criteria provided, single submitter
22.
GRCh37:
Chr22:24135740-24135881
GRCh38:
Chr22:23793553-23793694
SMARCB1not providedPathogenic
(Jan 30, 2017)		criteria provided, single submitter
23.
GRCh37:
Chr22:24133937-24176373
GRCh38:
Chr22:23791750-23834186
SMARCB1Rhabdoid tumor predisposition syndrome 1Uncertain significance
(Dec 5, 2017)		criteria provided, single submitter
24.
GRCh37:
Chr22:24129351-24176373
GRCh38:
Chr22:23787164-23834186
SMARCB1Rhabdoid tumor predisposition syndrome 1Pathogenic
(Apr 24, 2017)		criteria provided, single submitter
25.
GRCh37:
Chr17:38787898
GRCh38:
Chr17:40631646
SMARCE1Hereditary cancer-predisposing syndrome, Familial meningioma, Rhabdoid tumor predisposition syndrome 1
Likely benign
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr17:38785184
GRCh38:
Chr17:40628932
SMARCE1Familial meningioma, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 1,
not provided		Likely benign
(Sep 1, 2023)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr22:24175804
GRCh38:
Chr22:23833617
SMARCB1Schwannomatosis 1, not provided, Rhabdoid tumor predisposition syndrome 1,
Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr22:24159024
GRCh38:
Chr22:23816837
SMARCB1not provided, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 1,
Schwannomatosis 1		Benign/Likely benign
(Oct 1, 2023)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:38792199
GRCh38:
Chr17:40635947
SMARCE1Hereditary cancer-predisposing syndrome, Familial meningioma, Rhabdoid tumor predisposition syndrome 1
Likely benign
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr22:24167594
GRCh38:
Chr22:23825407
SMARCB1not specified, not provided, Rhabdoid tumor predisposition syndrome 1,
Schwannomatosis 1, Hereditary cancer-predisposing syndrome		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr22:24176660
GRCh38:
Chr22:23834473
SMARCB1Rhabdoid tumor predisposition syndrome 1, Schwannomatosis 1Benign
(Jan 12, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr22:24176646
GRCh38:
Chr22:23834459
SMARCB1Rhabdoid tumor predisposition syndrome 1, Schwannomatosis 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr22:24176480
GRCh38:
Chr22:23834293
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr22:24176384
GRCh38:
Chr22:23834197
SMARCB1not provided, Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1
Likely benign
(Aug 1, 2023)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr22:24176382
GRCh38:
Chr22:23834195
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Likely benign
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr22:24175755
GRCh38:
Chr22:23833568
SMARCB1not provided, Rhabdoid tumor predisposition syndrome 1, Schwannomatosis 1,
Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Sep 15, 2022)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr22:24145622
GRCh38:
Chr22:23803435
SMARCB1Intellectual disability, autosomal dominant 15, Schwannomatosis 1, not provided,
Rhabdoid tumor predisposition syndrome 1, Hereditary cancer-predisposing syndrome, not specified
Conflicting interpretations of pathogenicity
(Jul 7, 2023)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr22:24145588
GRCh38:
Chr22:23803401
SMARCB1A203T, A194T, A212T, A221TRhabdoid tumor predisposition syndrome 1, Rhabdoid tumor predisposition syndrome 2, not provided,
Hereditary cancer-predisposing syndrome, Schwannomatosis 1		Conflicting interpretations of pathogenicity
(Oct 15, 2022)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr22:24129340
GRCh38:
Chr22:23787153
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Benign
(Jan 12, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr22:24129250
GRCh38:
Chr22:23787063
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr22:24129242
GRCh38:
Chr22:23787055
SMARCB1not provided, Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1
Benign/Likely benign
(May 1, 2023)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr22:24129240
GRCh38:
Chr22:23787053
SMARCB1Schwannomatosis 1, not provided, Rhabdoid tumor predisposition syndrome 1
Benign
(Jun 23, 2018)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr22:24129209
GRCh38:
Chr22:23787022
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr22:24129200
GRCh38:
Chr22:23787013
SMARCB1Rhabdoid tumor predisposition syndrome 1, Schwannomatosis 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr22:24176340
GRCh38:
Chr22:23834153
SMARCB1Hereditary cancer-predisposing syndrome, not specified, Rhabdoid tumor predisposition syndrome 1,
not provided		Benign/Likely benign
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr17:38785042
GRCh38:
Chr17:40628790
SMARCE1E411*Rhabdoid tumor predisposition syndrome 1, Hereditary cancer-predisposing syndrome, not provided,
Familial meningioma		Benign/Likely benign
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr22:24175759-24176705
GRCh38:
Chr22:23833572-23834518
DERL3, SMARCB1Rhabdoid tumor predisposition syndrome 1, SchwannomatosisUncertain significance
(Jun 5, 2016)		criteria provided, single submitter
48.
GRCh37:
Chr22:24143206
GRCh38:
Chr22:23801019
SMARCB1Hereditary cancer-predisposing syndrome, not specified, not provided,
Rhabdoid tumor predisposition syndrome 1, Schwannomatosis 1		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr22:24135882
GRCh38:
Chr22:23793695
SMARCB1not provided, not specified, Rhabdoid tumor predisposition syndrome 1,
Schwannomatosis 1		Benign/Likely benign
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr22:24129150-24176705
GRCh38:
Chr22:23786963-23834518
DERL3, SMARCB1Rhabdoid tumor predisposition syndrome 1, SchwannomatosisUncertain significance
(Jul 20, 2016)		criteria provided, single submitter
51.
GRCh37:
Chr22:24129357
GRCh38:
Chr22:23787170
SMARCB1M1VHereditary cancer-predisposing syndrome, not provided, Rhabdoid tumor predisposition syndrome 1,
Schwannomatosis 1		Benign/Likely benign
(May 1, 2023)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr22:24167513
GRCh38:
Chr22:23825326
SMARCB1Hereditary cancer-predisposing syndrome, not specified, not provided,
Rhabdoid tumor predisposition syndrome 1, Schwannomatosis 1		Benign
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr22:24175857-24175859
GRCh38:
Chr22:23833670-23833672
SMARCB1K364del, K373del, K355del, K382delIntellectual disability, autosomal dominant 15, Rhabdoid tumor predisposition syndrome 1, Schwannomatosis 1,
Hereditary cancer-predisposing syndrome, not provided, Intellectual disability, autosomal dominant 15
Pathogenic
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr22:24158592-24158593
GRCh38:
Chr22:23816405-23816406
SMARCB1Schwannomatosis 1, Rhabdoid tumor predisposition syndrome 1Pathogenic
(Jan 1, 2009)		no assertion criteria provided
55.
GRCh37:
Chr22:24167603
GRCh38:
Chr22:23825416
SMARCB1Rhabdoid tumor predisposition syndrome 1Pathogenic
(Apr 1, 2000)		no assertion criteria provided
56.
GRCh37:
Chr22:24145570
GRCh38:
Chr22:23803383
SMARCB1Q198fs, Q189fs, Q207fs, Q216fsRhabdoid tumor predisposition syndrome 1Pathogenic
(Nov 1, 1999)		no assertion criteria provided
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