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Items: 1 to 100 of 220

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr21:45193801-45193802
GRCh38:
Chr21:43773920-43773921
CSTBnot providedLikely benign
(Jul 17, 2018)
no assertion criteria providedVCV001209247
2.
GRCh37:
Chr21:45194064
GRCh38:
Chr21:43774183
CSTBnot providedLikely benign
(Dec 6, 2017)
no assertion criteria providedVCV001208604
3.
GRCh37:
Chr21:45193783
GRCh38:
Chr21:43773902
CSTBnot providedLikely benign
(Jun 19, 2018)
no assertion criteria providedVCV001199992
4.
GRCh37:
Chr21:45196388
GRCh38:
Chr21:43776507
CSTBnot providedLikely benign
(Jul 9, 2018)
criteria provided, single submitterVCV001187020
5.
GRCh37:
Chr21:45196115
GRCh38:
Chr21:43776234
CSTBnot providedUncertain significance
(Mar 22, 2019)
criteria provided, single submitterVCV001179990
6.
GRCh37:
Chr21:45196362
GRCh38:
Chr21:43776481
CSTBnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV001175423
7.
GRCh37:
Chr21:45196274
GRCh38:
Chr21:43776393
CSTBnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV001174239
8.
GRCh37:
Chr21:45194203
GRCh38:
Chr21:43774322
CSTBProgressive myoclonic epilepsyLikely benign
(Mar 3, 2020)
criteria provided, single submitterVCV001155699
9.
GRCh37:
Chr21:45194134
GRCh38:
Chr21:43774253
CSTBProgressive myoclonic epilepsyLikely benign
(Mar 18, 2020)
criteria provided, single submitterVCV001153455
10.
GRCh37:
Chr21:45194650
GRCh38:
Chr21:43774769
CSTBProgressive myoclonic epilepsyLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001145727
11.
GRCh37:
Chr21:45196118
GRCh38:
Chr21:43776237
CSTBProgressive myoclonic epilepsyLikely benign
(Apr 25, 2019)
criteria provided, single submitterVCV001142711
12.
GRCh37:
Chr21:45194137
GRCh38:
Chr21:43774256
CSTBProgressive myoclonic epilepsyLikely benign
(Oct 7, 2020)
criteria provided, single submitterVCV001134631
13.
GRCh37:
Chr21:45196112
GRCh38:
Chr21:43776231
CSTBProgressive myoclonic epilepsyLikely benign
(Apr 28, 2019)
criteria provided, single submitterVCV001126007
14.
GRCh37:
Chr21:45194179
GRCh38:
Chr21:43774298
CSTBProgressive myoclonic epilepsyLikely benign
(Nov 20, 2020)
criteria provided, single submitterVCV001110455
15.
GRCh37:
Chr21:45194531
GRCh38:
Chr21:43774650
CSTBProgressive myoclonic epilepsyLikely benign
(Oct 19, 2020)
criteria provided, single submitterVCV001109460
16.
GRCh37:
Chr21:45194107
GRCh38:
Chr21:43774226
CSTBProgressive myoclonic epilepsyLikely benign
(Dec 10, 2019)
criteria provided, single submitterVCV001095761
17.
GRCh37:
Chr21:45194560
GRCh38:
Chr21:43774679
CSTBProgressive myoclonic epilepsyLikely benign
(Apr 20, 2020)
criteria provided, single submitterVCV001095605
18.
GRCh37:
Chr21:45194188
GRCh38:
Chr21:43774307
CSTBProgressive myoclonic epilepsyLikely benign
(Jul 7, 2020)
criteria provided, single submitterVCV001090993
19.
GRCh37:
Chr21:45194086
GRCh38:
Chr21:43774205
CSTBProgressive myoclonic epilepsyLikely benign
(May 4, 2019)
criteria provided, single submitterVCV001087188
20.
GRCh37:
Chr21:45194083-45196150
CSTBProgressive myoclonic epilepsyPathogenic
(Aug 10, 2020)
criteria provided, single submitterVCV001074795
21.
GRCh37:
Chr21:44838130-45196150
CSTB, PDXK, HSF2BP, RRP1B, SIK1Epileptic encephalopathy, early infantile, 30, Progressive myoclonic epilepsyUncertain significance
(Oct 29, 2020)
criteria provided, single submitterVCV001055976
22.
GRCh37:
Chr21:45196130
GRCh38:
Chr21:43776249
CSTBProgressive myoclonic epilepsyUncertain significance
(Jul 1, 2020)
criteria provided, single submitterVCV001036373
23.
GRCh37:
Chr21:45196104
GRCh38:
Chr21:43776223
CSTBT16IProgressive myoclonic epilepsyUncertain significance
(Sep 1, 2020)
criteria provided, single submitterVCV001023817
24.
GRCh37:
Chr21:45194208
GRCh38:
Chr21:43774327
CSTBH58YProgressive myoclonic epilepsyUncertain significance
(Mar 20, 2020)
criteria provided, single submitterVCV001021172
25.
GRCh37:
Chr21:45194594
GRCh38:
Chr21:43774713
CSTBF38YProgressive myoclonic epilepsyUncertain significance
(Sep 2, 2020)
criteria provided, single submitterVCV001018479
26.
GRCh37:
Chr21:45196120
GRCh38:
Chr21:43776239
CSTBP11SProgressive myoclonic epilepsyUncertain significance
(Aug 11, 2020)
criteria provided, single submitterVCV001009881
27.
GRCh37:
Chr21:45194148
GRCh38:
Chr21:43774267
CSTBK78QProgressive myoclonic epilepsyUncertain significance
(Apr 9, 2020)
criteria provided, single submitterVCV001005500
28.
GRCh37:
Chr21:45194607
GRCh38:
Chr21:43774726
CSTBK34EProgressive myoclonic epilepsyUncertain significance
(Jun 3, 2020)
criteria provided, single submitterVCV001000194
29.
GRCh37:
Chr21:45196125
GRCh38:
Chr21:43776244
CSTBT9MProgressive myoclonic epilepsyUncertain significance
(Feb 21, 2020)
criteria provided, single submitterVCV000999402
30.
GRCh37:
Chr21:14629063-48090317
KRTAP10-6, SOD1, GET1, GATD3, KRTAP19-7, KRTAP20-1, PSMG1, SYNJ1, KRTAP21-2, KRTAP22-1, KRTAP19-4, KRTAP20-2, KRTAP21-1, MCM3AP, CLDN8, C2CD2, LTN1, DOP1B, KCNE2, RWDD2B, OLIG2, DSCR4, BTG3, HSF2BP, PCP4, PDE9A, S100B, SH3BGR, ITSN1, PFKL, KCNE1, KCNJ6, KRTAP20-3, KRTAP12-2, KRTAP10-7, KRTAP10-9, KRTAP10-1, KRTAP10-11, KRTAP10-2, KRTAP10-5, LINC00114, PKNOX1, TMPRSS15, PWP2, SIM2, SLC5A3, SIK1, PLAC4, LINC00315, KRTAP15-1, KRTAP13-4, KRTAP11-1, KRTAP19-1, POTED, KRTAP7-1, ADARB1, SUMO3, NRIP1, CHAF1B, AIRE, APP, ATP5PF, ATP5PO, BACH1, PTTG1IP, CFAP410, RUNX1, CBR1, CBR3, CBS, COL6A1, COL6A2, KRTAP13-1, TCP10L, DSCAM, RCAN1, DYRK1A, ERG, ETS2, KRTAP8-1, LSS, MX1, MX2, NCAM2, NDUFV3, PCNT, KRTAP13-2, KRTAP13-3, SON, HSPA13, TFF1, TFF2, TFF3, TIAM1, TRAPPC10, TMPRSS2, TRPM2, TTC3, U2AF1, UBE2G2, VPS26C, B3GALT5, USP16, CCT8, WDR4, FTCD, DIP2A, POFUT2, ICOSLG, MORC3, CLDN14, BACE2, MIR155, MIR99A, CXADR, TMEM50B, CRYAA, CSTB, GABPA, KRTAP19-2, KRTAP19-3, KRTAP19-5, KRTAP19-6, LRRC3, SPATC1L, C21orf91, FAM3B, RIPK4, MAP3K7CL, SCAF4, JAM2, GART, KCNJ15, SLC19A1, ADAMTS1, N6AMT1, USP25, DNAJC28, C21orf62, MRAP, CFAP298, AGPAT3, GRIK1, HLCS, PRMT2, IFNAR1, IFNAR2, HMGN1, EVA1C, PRDM15, SAMSN1, TMPRSS3, CHODL, LIPI, LCA5L, DSCR8, SLX9, LINC00334, CYYR1, RSPH1, UMODL1, PAXBP1, MIS18A, TSPEAR, MRPS6, COL18A1, IGSF5, KRTAP23-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP12-1, KRTAP12-4, KRTAP10-12, KRTAP26-1, KRTAP22-2, KRTAP21-3, DNMT3L, DONSON, PIGP, UBASH3A, PCBP3, C21orf58, HUNK, ZBTB21, RIPPLY3, BRWD1, CLDN17, SLC37A1, RBM11, LINC00163, YBEY, SMIM11, IFNGR2, IL10RB, ITGB2, OLIG1, SETD4, KRTAP20-4, MIRLET7C, MIR125B2, KRTAP24-1, KRTAP27-1, KRTAP19-8, KRTAP25-1, CLIC6, MRPL39, ABCG1, URB1, CRYZL1, KRTAP10-10, KRTAP10-4, PDXK, RRP1, KRTAP10-8, KRTAP10-3, KRTAP12-3, ADAMTS5, RRP1B
See casesPathogenic
(Sep 3, 2020)
no assertion criteria providedVCV000983157
31.
GRCh37:
Chr21:45194601
GRCh38:
Chr21:43774720
CSTBP36SProgressive myoclonic epilepsyUncertain significance
(Jan 28, 2020)
criteria provided, single submitterVCV000967842
32.
GRCh37:
Chr21:45194562
GRCh38:
Chr21:43774681
CSTBA49TProgressive myoclonic epilepsyUncertain significance
(Jul 29, 2019)
criteria provided, single submitterVCV000960423
33.
GRCh37:
Chr21:45194622
GRCh38:
Chr21:43774741
CSTBE29KProgressive myoclonic epilepsyUncertain significance
(Aug 8, 2019)
criteria provided, single submitterVCV000958189
34.
GRCh37:
Chr21:45194567
GRCh38:
Chr21:43774686
CSTBV47GProgressive myoclonic epilepsyUncertain significance
(Jul 31, 2019)
criteria provided, single submitterVCV000950667
35.
GRCh37:
Chr21:45194568
GRCh38:
Chr21:43774687
CSTBV47LProgressive myoclonic epilepsyUncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000947718
36.
GRCh37:
Chr21:45194644
GRCh38:
Chr21:43774763
CSTBProgressive myoclonic epilepsy, not providedUncertain significance
(Nov 6, 2019)
criteria provided, multiple submitters, no conflictsVCV000944340
37.
GRCh37:
Chr21:45194211
GRCh38:
Chr21:43774330
CSTBV57LUnverricht-Lundborg syndrome, Progressive myoclonic epilepsyUncertain significance
(Mar 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000898861
38.
GRCh37:
Chr21:45193990
GRCh38:
Chr21:43774109
CSTBUnverricht-Lundborg syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000897702
39.
GRCh37:
Chr21:45193874
GRCh38:
Chr21:43773993
CSTBUnverricht-Lundborg syndromeUncertain significance
(Mar 2, 2018)
criteria provided, single submitterVCV000897701
40.
GRCh37:
Chr21:45193796
GRCh38:
Chr21:43773915
CSTBUnverricht-Lundborg syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897700
41.
GRCh37:
Chr21:45193764
GRCh38:
Chr21:43773883
CSTBUnverricht-Lundborg syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000897699
42.
GRCh37:
Chr21:45193749
GRCh38:
Chr21:43773868
CSTBUnverricht-Lundborg syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000896110
43.
GRCh37:
Chr21:45196142
GRCh38:
Chr21:43776261
CSTBUnverricht-Lundborg syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000895890
44.
GRCh37:
Chr21:45194187
GRCh38:
Chr21:43774306
CSTBV65LProgressive myoclonic epilepsyUncertain significance
(Dec 8, 2019)
criteria provided, single submitterVCV000855755
45.
GRCh37:
Chr21:45194111
GRCh38:
Chr21:43774230
CSTBA90GProgressive myoclonic epilepsyUncertain significance
(May 31, 2020)
criteria provided, single submitterVCV000840825
46.
GRCh37:
Chr21:45192546-45197256
CSTBProgressive myoclonic epilepsyUncertain significance
(Dec 3, 2019)
criteria provided, single submitterVCV000832805
47.
GRCh37:
Chr21:44838120-45629566
CSTB, PWP2, TRAPPC10, GATD3A, PDXK, RRP1, HSF2BP, RRP1B, AGPAT3, SIK1Progressive myoclonic epilepsyUncertain significance
(Nov 27, 2019)
criteria provided, single submitterVCV000832239
48.
GRCh37:
Chr21:43792871-46330697
not providedUncertain significance
(Jan 6, 2020)
criteria provided, single submitterVCV000830669
49.
GRCh37:
Chr21:44838120-45629566
CSTB, PWP2, TRAPPC10, GATD3A, PDXK, RRP1, HSF2BP, RRP1B, AGPAT3, SIK1Progressive myoclonic epilepsyPathogenic
(May 23, 2019)
criteria provided, single submitterVCV000830406
50.
GRCh37:
Chr21:44836602-45629566
CSTB, PWP2, TRAPPC10, GATD3A, PDXK, RRP1, HSF2BP, RRP1B, AGPAT3, SIK1Epileptic encephalopathy, early infantile, 30Pathogenic
(May 23, 2019)
criteria provided, single submitterVCV000830405
51.
GRCh37:
Chr21:42044877-48100155
See casesPathogenic
(Feb 23, 2018)
criteria provided, single submitterVCV000816508
52.
GRCh37:
Chr21:45125672-48097372
not providedUncertain significance
(Apr 12, 2019)
no assertion criteria providedVCV000816178
53.
GRCh37:
Chr21:44847202-45265689
CSTB, PDXK, RRP1, HSF2BP, RRP1Bnot providedLikely benign
(Dec 9, 2019)
no assertion criteria providedVCV000816177
54.
GRCh37:
Chr21:43472147-48097372
not providedPathogenic
(Oct 23, 2018)
no assertion criteria providedVCV000816172
55.
GRCh37:
Chr21:45196108
GRCh38:
Chr21:43776227
CSTBE15*not providedLikely pathogenic
(Aug 1, 2019)
criteria provided, single submitterVCV000809294
56.
GRCh37:
Chr21:45194167
GRCh38:
Chr21:43774286
CSTBProgressive myoclonic epilepsy, not providedLikely benign
(Dec 5, 2018)
criteria provided, single submitterVCV000767341
57.
GRCh37:
Chr21:45194587
GRCh38:
Chr21:43774706
CSTBProgressive myoclonic epilepsyLikely benign
(Jun 29, 2020)
criteria provided, single submitterVCV000760847
58.
GRCh37:
Chr21:44735958-45448138
CSTB, TRAPPC10, PDXK, RRP1, HSF2BP, RRP1B, AGPAT3, SIK1not providedUncertain significance
(Jul 28, 2017)
no assertion criteria providedVCV000688553
59.
GRCh37:
Chr21:43756585-46240105
not providedPathogenic
(Jun 19, 2018)
no assertion criteria providedVCV000688323
60.
GRCh37:
Chr21:44310057-47503155
not providedPathogenic
(Jul 26, 2018)
no assertion criteria providedVCV000686963
61.
GRCh37:
Chr21:15006457-48097372
ATP5PF, ADARB1, AIRE, APP, ATP5PO, BACH1, PTTG1IP, CFAP410, TMEM50B, RUNX1, CBR1, CBR3, CBS, COL6A1, COL6A2, CRYAA, CSTB, CXADR, DSCAM, RCAN1, DYRK1A, ERG, ETS2, GABPA, GART, GRIK1, HLCS, HMGN1, PRMT2, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITGB2, KCNE1, KCNJ6, KCNJ15, LSS, MX1, MX2, NCAM2, NDUFV3, PCNT, PCP4, PDE9A, PFKL, PKNOX1, TMPRSS15, PWP2, S100B, SH3BGR, ITSN1, SIM2, SLC5A3, SLC19A1, SUMO3, SOD1, SON, HSPA13, TFF1, TFF2, TFF3, TIAM1, TRAPPC10, TMPRSS2, TRPM2, TTC3, U2AF1, UBE2G2, GET1, NRIP1, CHAF1B, GATD3, PDXK, RRP1, PSMG1, SYNJ1, MCM3AP, CLDN8, ADAMTS1, ABCG1, URB1, CRYZL1, DOP1B, KCNE2, RWDD2B, OLIG2, DSCR4, VPS26C, B3GALT5, USP16, CCT8, WDR4, FTCD, BTG3, HSF2BP, ADAMTS5, RRP1B, C2CD2, DIP2A, POFUT2, ICOSLG, MORC3, CLDN14, BACE2, LTN1, CLDN17, N6AMT1, USP25, DNMT3L, DONSON, HUNK, ZBTB21, PIGP, UBASH3A, RIPPLY3, BRWD1, SLC37A1, RBM11, PCBP3, C21orf58, YBEY, SMIM11, MIS18A, TSPEAR, SETD4, FAM3B, RIPK4, CLIC6, MRPL39, C21orf91, DNAJC28, C21orf62, MRAP, CFAP298, AGPAT3, MAP3K7CL, SCAF4, JAM2, EVA1C, PRDM15, SAMSN1, TMPRSS3, MRPS6, COL18A1, LRRC3, SPATC1L, DSCR8, SLX9, RSPH1, UMODL1, PAXBP1, LINC00334, CYYR1, OLIG1, KRTAP13-1, TCP10L, CHODL, LIPI, LCA5L, IGSF5, SIK1, PLAC4, LINC00315, KRTAP15-1, KRTAP13-4, POTED, KRTAP7-1, KRTAP8-1, KRTAP11-1, KRTAP19-1, KRTAP13-2, KRTAP13-3, KRTAP23-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP20-1, KRTAP20-2, KRTAP21-1, KRTAP21-2, KRTAP22-1, KRTAP20-3, KRTAP12-2, KRTAP12-1, KRTAP10-10, KRTAP10-4, KRTAP10-6, KRTAP10-7, KRTAP10-9, KRTAP10-1, KRTAP10-11, KRTAP10-2, KRTAP10-5, KRTAP10-8, KRTAP10-3, KRTAP12-3, KRTAP12-4, KRTAP10-12, KRTAP26-1, LINC00114, MIRLET7C, MIR125B2, MIR155, MIR99A, KRTAP24-1, KRTAP27-1, LINC00163, KRTAP19-8, KRTAP25-1, KRTAP20-4, KRTAP22-2, KRTAP21-3
not providedPathogenic
(Jun 18, 2018)
no assertion criteria providedVCV000686229
62.
GRCh37:
Chr21:45194790
GRCh38:
Chr21:43774909
CSTBnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000677584
63.
GRCh37:
Chr21:45195977
GRCh38:
Chr21:43776096
CSTBnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000677583
64.
GRCh37:
Chr21:45194808-45194809
GRCh38:
Chr21:43774927-43774928
CSTBnot providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000677419
65.
GRCh37:
Chr21:45196186-45196198
GRCh38:
Chr21:43776305-43776317
CSTBnot providedLikely benign
(Jun 7, 2018)
criteria provided, single submitterVCV000671988
66.
GRCh37:
Chr21:45195996
GRCh38:
Chr21:43776115
CSTBnot providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000670906
67.
GRCh37:
Chr21:45194159
GRCh38:
Chr21:43774278
CSTBP74LProgressive myoclonic epilepsyUncertain significance
(Sep 20, 2020)
criteria provided, single submitterVCV000666012
68.
GRCh37:
Chr21:45194176-45194177
GRCh38:
Chr21:43774295-43774296
CSTBV69fsProgressive myoclonic epilepsyPathogenic
(Sep 26, 2018)
criteria provided, single submitterVCV000659184
69.
GRCh37:
Chr21:43892908-45629566
Primary ciliary dyskinesia, Epileptic encephalopathy, early infantile, 30Conflicting interpretations of pathogenicity
(Jun 7, 2020)
criteria provided, conflicting interpretationsVCV000647965
70.
GRCh37:
Chr21:44627837-46920235
Neurodevelopmental disorderUncertain significance
(Apr 9, 2019)
no assertion criteria providedVCV000635900
71.
GRCh37:
Chr21:43010560-48093051
not providedLikely pathogenicno assertion criteria providedVCV000626294
72.
GRCh37:
Chr21:41537095-46914745
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625618
73.
GRCh37:
Chr21:10827533-48100155
KRTAP12-1, KRTAP10-10, KRTAP10-9, KRTAP10-1, KRTAP10-11, KRTAP10-2, KRTAP10-5, KRTAP10-8, KRTAP10-3, CRYZL1, DOP1B, KCNE2, RWDD2B, OLIG2, GABPA, ITGB2, NRIP1, AIRE, BTG3, UBASH3A, RIPPLY3, MAP3K7CL, MIR155, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP19-1, KRTAP13-2, SCAF4, TSPEAR, DSCR4, C2CD2, LTN1, UMODL1, PAXBP1, LINC00334, PDE9A, HLCS, LINC00315, KRTAP15-1, KRTAP19-5, KRTAP13-3, KRTAP23-1, IFNGR2, PFKL, PKNOX1, PCP4, TMPRSS15, PWP2, S100B, SH3BGR, CSTB, CXADR, RSPH1, KRTAP13-4, POTED, GART, KRTAP19-6, KRTAP19-7, KRTAP7-1, KRTAP8-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, BAGE3, BAGE2, SLX9, SAMSN1, TCP10L, CHODL, KRTAP12-3, KRTAP12-4, KRTAP10-12, ADARB1, LIPI, LCA5L, IGSF5, TMEM50B, CRYAA, SIK1, UBE2G2, GET1, SETD4, FAM3B, RIPK4, OLIG1, KRTAP13-1, IL10RB, KCNE1, SMIM11, MIS18A, APP, ATP5PF, ATP5PO, BACH1, PTTG1IP, CFAP410, RUNX1, CBR1, CBR3, CBS, COL6A1, COL6A2, HMGN1, DSCAM, RCAN1, DYRK1A, ERG, ETS2, IFNAR1, IFNAR2, LSS, MX1, MX2, NCAM2, NDUFV3, PCNT, CLIC6, MRPL39, C21orf91, PLAC4, C21orf58, YBEY, KRTAP20-1, KRTAP20-2, KRTAP21-1, KRTAP26-1, LINC00114, ITSN1, SIM2, SLC5A3, SLC19A1, SUMO3, SOD1, CLDN17, SON, HSPA13, TFF1, TFF2, TFF3, TIAM1, TRAPPC10, TMPRSS2, TPTE, TRPM2, TTC3, U2AF1, N6AMT1, USP25, VPS26C, B3GALT5, USP16, CCT8, WDR4, FTCD, DIP2A, POFUT2, ICOSLG, MORC3, CLDN14, BACE2, ZBTB21, DNAJC28, C21orf62, MRAP, CFAP298, AGPAT3, DNMT3L, DONSON, HUNK, PIGP, PRMT2, GRIK1, SPATC1L, DSCR8, TMPRSS3, MRPS6, COL18A1, KCNJ6, KCNJ15, LRRC3, PDXK, RRP1, PSMG1, RRP1B, SLC37A1, RBM11, PCBP3, MIR99A, KRTAP24-1, SYNJ1, MCM3AP, JAM2, EVA1C, PRDM15, HSF2BP, ADAMTS5, CYYR1, KRTAP11-1, CHAF1B, GATD3, KRTAP27-1, LINC00163, CLDN8, ADAMTS1, KRTAP19-8, KRTAP25-1, KRTAP20-4, ABCG1, URB1, BRWD1, KRTAP22-2, KRTAP21-3, KRTAP21-2, KRTAP22-1, MIRLET7C, MIR125B2, KRTAP20-3, KRTAP12-2, KRTAP10-4, KRTAP10-6, KRTAP10-7
not providedPathogenic
(Jan 24, 2017)
no assertion criteria providedVCV000604783
74.
GRCh37:
Chr21:10824040-48090629
UMODL1, PAXBP1, POTED, KRTAP7-1, KRTAP19-7, KRTAP20-1, KRTAP20-2, KRTAP10-1, KRTAP27-1, LINC00163, DSCR4, BTG3, RRP1, BAGE2, SLX9, RSPH1, PRDM15, SAMSN1, TMPRSS3, IGSF5, SIK1, APP, ATP5PF, ATP5PO, BACH1, PTTG1IP, CFAP410, RUNX1, CBR1, CBR3, CBS, COL6A1, COL6A2, DSCAM, RCAN1, DYRK1A, ERG, ETS2, ITSN1, SIM2, SLC5A3, SLC19A1, SUMO3, SOD1, KRTAP21-1, KRTAP21-2, CHAF1B, NDUFV3, KRTAP10-11, KRTAP10-2, NCAM2, LIPI, LCA5L, PLAC4, LINC00315, MRPL39, TSPEAR, SETD4, FAM3B, RIPK4, CRYAA, CSTB, KRTAP19-8, RBM11, ICOSLG, MORC3, CLDN14, GATD3, CLIC6, KRTAP13-1, TCP10L, CHODL, PCNT, PCP4, PDE9A, PFKL, PKNOX1, HMGN1, PRMT2, KRTAP21-3, GABPA, GART, GRIK1, HLCS, KRTAP20-4, CXADR, MAP3K7CL, SCAF4, KRTAP12-3, KRTAP12-4, KRTAP10-12, KRTAP26-1, LINC00114, MIRLET7C, MIR125B2, MIR155, KRTAP15-1, SON, HSPA13, TFF1, TFF2, TFF3, TIAM1, YBEY, SMIM11, TRAPPC10, TMPRSS2, TPTE, TRPM2, TTC3, U2AF1, VPS26C, B3GALT5, USP16, CCT8, WDR4, FTCD, MIR99A, KRTAP24-1, ZBTB21, PIGP, DNAJC28, C21orf62, MRAP, CFAP298, AGPAT3, UBASH3A, RIPPLY3, BRWD1, DNMT3L, DONSON, HUNK, MX1, MX2, UBE2G2, GET1, ABCG1, URB1, BACE2, C2CD2, PCBP3, C21orf58, IFNAR1, IFNAR2, IFNGR2, LINC00334, JAM2, EVA1C, BAGE3, MRPS6, COL18A1, HSF2BP, ADAMTS5, S100B, SH3BGR, CYYR1, OLIG1, LRRC3, SPATC1L, DSCR8, KRTAP13-2, KRTAP13-3, MIS18A, N6AMT1, USP25, KRTAP20-3, KRTAP22-1, KRTAP10-5, TMPRSS15, KRTAP10-7, KRTAP10-9, CLDN8, ADAMTS1, KRTAP25-1, KRTAP12-2, TMEM50B, KRTAP12-1, KRTAP10-10, KRTAP10-4, KRTAP10-6, ADARB1, AIRE, KRTAP10-8, KRTAP10-3, KRTAP22-2, LTN1, CLDN17, IL10RB, ITGB2, KCNE1, KCNJ6, DOP1B, KCNE2, PDXK, KRTAP8-1, KRTAP11-1, KRTAP19-1, PWP2, KCNJ15, LSS, SYNJ1, MCM3AP, RRP1B, DIP2A, POFUT2, SLC37A1, KRTAP6-3, KRTAP23-1, KRTAP6-1, KRTAP13-4, NRIP1, PSMG1, RWDD2B, CRYZL1, C21orf91, KRTAP19-2, KRTAP6-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, OLIG2
not providedPathogenic
(Apr 29, 2013)
no assertion criteria providedVCV000604782
75.
GRCh37:
Chr21:10704198-48117896
S100B, SH3BGR, SMIM11, MIS18A, TSPEAR, SETD4, CRYZL1, DOP1B, FAM3B, KRTAP12-1, KRTAP10-10, RBM11, SAMSN1, TMPRSS3, CLDN17, N6AMT1, USP25, KCNE1, KCNJ6, KCNJ15, PCP4, PDE9A, PFKL, PKNOX1, BACH1, PTTG1IP, HSF2BP, SON, HSPA13, TFF1, TFF2, TFF3, TIAM1, TRAPPC10, TMPRSS2, TPTE, TRPM2, TTC3, U2AF1, DIP2A, POFUT2, ICOSLG, MORC3, CLDN14, BACE2, DNAJC28, C21orf62, MRAP, CFAP298, AGPAT3, DNMT3L, HUNK, ZBTB21, PCBP3, C21orf58, YBEY, CFAP410, RIPK4, CLIC6, CRYAA, TMEM50B, RRP1B, CSTB, ADAMTS5, BRWD1, SLC37A1, JAM2, LINC00334, CYYR1, KRTAP13-2, KRTAP13-3, RWDD2B, OLIG2, KRTAP22-1, KRTAP20-3, KRTAP12-2, MIR125B2, MIR155, DSCR4, VPS26C, AIRE, APP, CXADR, DONSON, C2CD2, LTN1, B3GALT5, USP16, CCT8, WDR4, UBE2G2, GET1, KRTAP21-3, KRTAP27-1, LINC00163, KRTAP19-8, KCNE2, ADARB1, FTCD, GABPA, GART, TMPRSS15, CLDN8, ADAMTS1, MCM3AP, KRTAP25-1, KRTAP20-4, KRTAP22-2, MIR99A, KRTAP24-1, KRTAP10-2, KRTAP10-5, KRTAP10-4, KRTAP10-6, BTG3, PIGP, MRPL39, C21orf91, RSPH1, KRTAP10-7, KRTAP10-9, KRTAP21-1, KRTAP21-2, KRTAP10-1, KRTAP10-11, KRTAP10-8, KRTAP10-3, KRTAP12-3, LINC00114, MIRLET7C, GATD3, PDXK, RRP1, PSMG1, SYNJ1, UBASH3A, RIPPLY3, KRTAP13-4, POTED, KRTAP7-1, KRTAP8-1, KRTAP20-1, KRTAP20-2, KRTAP12-4, KRTAP10-12, KRTAP26-1, KRTAP23-1, KRTAP6-1, KRTAP6-2, MAP3K7CL, SCAF4, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP6-3, GRIK1, HLCS, HMGN1, UMODL1, PAXBP1, KRTAP19-2, LINC00315, KRTAP15-1, PWP2, TCP10L, CHODL, LIPI, IFNAR2, IFNGR2, RUNX1, CBR1, CBR3, CBS, COL6A1, COL6A2, DSCAM, RCAN1, DYRK1A, ERG, ETS2, LSS, MX1, MX2, NCAM2, NDUFV3, PCNT, ITSN1, SIM2, SLC5A3, SLC19A1, SUMO3, SOD1, OLIG1, KRTAP13-1, ABCG1, URB1, LCA5L, NRIP1, CHAF1B, KRTAP11-1, KRTAP19-1, IGSF5, IL10RB, ITGB2, ATP5PF, ATP5PO, SIK1, PLAC4, MRPS6, COL18A1, LRRC3, PRMT2, IFNAR1, BAGE3, BAGE2, SLX9, EVA1C, PRDM15, SPATC1L, DSCR8, KRTAP19-6, KRTAP19-7
not providedPathogenic
(Feb 17, 2011)
no assertion criteria providedVCV000604779
76.
GRCh37:
Chr21:10699330-48117896
CLIC6, TSPEAR, SETD4, MRPL39, C2CD2, LTN1, CLDN17, DONSON, HUNK, N6AMT1, USP25, DNMT3L, ZBTB21, PIGP, DSCR4, BTG3, DOP1B, KCNE2, URB1, CRYZL1, RWDD2B, OLIG2, HSF2BP, ADAMTS5, RRP1B, DIP2A, S100B, SH3BGR, UBE2G2, GET1, CSTB, CXADR, BAGE2, SLX9, PCP4, PDE9A, PFKL, KRTAP24-1, KRTAP27-1, LINC00163, MIR155, MIR99A, KRTAP19-8, KRTAP25-1, KRTAP20-4, KRTAP22-2, PDXK, PWP2, RRP1, PSMG1, UBASH3A, RIPPLY3, IFNGR2, KRTAP10-11, KRTAP10-2, CRYAA, KCNJ15, KRTAP10-5, KRTAP10-8, KRTAP10-1, MCM3AP, CLDN8, ADAMTS1, KRTAP10-3, SYNJ1, KRTAP21-1, KRTAP21-2, KRTAP22-1, KRTAP20-3, POFUT2, KRTAP12-2, KRTAP12-1, BRWD1, KCNE1, KCNJ6, C21orf91, DNAJC28, IL10RB, ITGB2, DSCR8, BAGE3, KRTAP19-4, KRTAP19-5, KRTAP19-6, MAP3K7CL, SCAF4, SIK1, PLAC4, KRTAP12-3, GRIK1, HLCS, KRTAP6-3, NRIP1, CHAF1B, GATD3, LINC00315, KRTAP15-1, ICOSLG, MORC3, KRTAP10-10, KRTAP10-4, KRTAP12-4, KRTAP21-3, KRTAP11-1, KRTAP19-1, ATP5PO, BACH1, PTTG1IP, CFAP410, TMEM50B, KRTAP13-2, HMGN1, PRMT2, IFNAR1, IFNAR2, KRTAP6-1, KRTAP6-2, KRTAP19-7, KRTAP20-1, ATP5PF, KRTAP20-2, GABPA, GART, PKNOX1, TMPRSS15, ABCG1, POTED, TCP10L, CHODL, LIPI, LCA5L, KRTAP13-3, KRTAP23-1, KRTAP7-1, KRTAP8-1, ADARB1, AIRE, APP, CLDN14, BACE2, LINC00334, CYYR1, RUNX1, CBR1, CBR3, CBS, COL6A1, COL6A2, PCBP3, C21orf58, OLIG1, KRTAP13-1, DSCAM, RCAN1, DYRK1A, ERG, ETS2, LRRC3, SPATC1L, LSS, MX1, MX2, NCAM2, NDUFV3, PCNT, PAXBP1, IGSF5, JAM2, EVA1C, CFAP298, AGPAT3, ITSN1, SIM2, SLC5A3, SLC19A1, SUMO3, SOD1, RSPH1, UMODL1, SON, HSPA13, TFF1, TFF2, TFF3, TIAM1, TRAPPC10, TMPRSS2, TPTE, TRPM2, TTC3, U2AF1, VPS26C, B3GALT5, USP16, CCT8, WDR4, FTCD, KRTAP13-4, KRTAP19-3, KRTAP10-7, KRTAP10-9, KRTAP19-2, KRTAP10-6, SLC37A1, RBM11, KRTAP10-12, KRTAP26-1, LINC00114, C21orf62, MRAP, MIRLET7C, MIR125B2, PRDM15, SAMSN1, TMPRSS3, MRPS6, YBEY, COL18A1, SMIM11, MIS18A, FAM3B, RIPK4
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000604777
77.
GRCh37:
Chr21:45194611
GRCh38:
Chr21:43774730
CSTBProgressive myoclonic epilepsy, SeizuresLikely benign
(Nov 21, 2019)
criteria provided, multiple submitters, no conflictsVCV000588247
78.
GRCh37:
Chr21:45194216
GRCh38:
Chr21:43774335
CSTBSeizuresUncertain significance
(Oct 31, 2016)
criteria provided, single submitterVCV000587923
79.
GRCh37:
Chr21:45194063-45196170
GRCh38:
Chr21:43774182-43776289
CSTBProgressive myoclonic epilepsyUncertain significance
(Jun 15, 2018)
criteria provided, single submitterVCV000584212
80.
GRCh37:
Chr21:45194205
GRCh38:
Chr21:43774324
CSTBV59IProgressive myoclonic epilepsyUncertain significance
(Sep 13, 2017)
criteria provided, single submitterVCV000581672
81.
GRCh37:
Chr21:45196123
GRCh38:
Chr21:43776242
CSTBQ10EProgressive myoclonic epilepsyUncertain significance
(May 8, 2019)
criteria provided, single submitterVCV000579288
82.
GRCh37:
Chr21:45196096
GRCh38:
Chr21:43776215
CSTBI19VProgressive myoclonic epilepsyUncertain significance
(Feb 23, 2018)
criteria provided, single submitterVCV000575503
83.
GRCh37:
Chr21:45196087
GRCh38:
Chr21:43776206
CSTBQ22*Progressive myoclonic epilepsyPathogenic
(May 7, 2018)
criteria provided, single submitterVCV000575156
84.
GRCh37:
Chr21:45194189
GRCh38:
Chr21:43774308
CSTBF64CProgressive myoclonic epilepsyUncertain significance
(May 14, 2018)
criteria provided, single submitterVCV000570980
85.
GRCh37:
Chr21:45194090
GRCh38:
Chr21:43774209
CSTBY97CProgressive myoclonic epilepsyUncertain significance
(Jun 7, 2018)
criteria provided, single submitterVCV000566823
86.
GRCh37:
Chr21:45194549
GRCh38:
Chr21:43774668
CSTBY53CUnverricht-Lundborg syndrome, Progressive myoclonic epilepsyUncertain significance
(Feb 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000566232
87.
GRCh37:
Chr21:42335622-48097372
not providedPathogenic
(Mar 16, 2018)
no assertion criteria providedVCV000564676
88.
GRCh37:
Chr21:43687353-48097372
not providedPathogenic
(Jan 9, 2018)
no assertion criteria providedVCV000564674
89.
GRCh37:
Chr21:45194112
GRCh38:
Chr21:43774231
CSTBA90TProgressive myoclonic epilepsy, not providedUncertain significance
(Mar 14, 2019)
criteria provided, multiple submitters, no conflictsVCV000546536
90.
GRCh38:
Chr21:43403441-46673937
Autistic disorder of childhood onsetLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545245
91.
GRCh37:
Chr21:45194177
GRCh38:
Chr21:43774296
CSTBR68PProgressive myoclonic epilepsyUncertain significance
(Jan 8, 2018)
criteria provided, single submitterVCV000531794
92.
GRCh37:
Chr21:45196180
GRCh38:
Chr21:43776299
CSTBnot specifiedLikely benign
(Aug 4, 2017)
criteria provided, single submitterVCV000511262
93.
GRCh37:
Chr21:45196162
GRCh38:
Chr21:43776281
CSTBnot specified, Unverricht-Lundborg syndromeConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000510088
94.
GRCh37:
Chr21:45194206
GRCh38:
Chr21:43774325
CSTBnot specified, Progressive myoclonic epilepsyLikely benign
(Sep 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000507395
95.
GRCh37:
Chr21:45194126-45194129
GRCh38:
Chr21:43774245-43774248
CSTBN84fsnot providedUncertain significance
(Jun 6, 2017)
criteria provided, single submitterVCV000502097
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