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Items: 1 to 100 of 174

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:7635254-88005418
GRCh38:
Chr2:7495123-87705899
MSGN1, FIGLA, NOTO, CDKL4, LRRTM1, GEN1, C2orf48, PFN4, FAM228B, LOC375196, MFSD2B, PCARE, LINC01913, TMEM247, LINC01118, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, PTRHD1, SULT6B1, LINC01376, LINC00954, C2orf91, LINC01121, EML6, LINC01122, LINC01185, LINC02245, PCBP1-AS1, PAIP2B, RGPD1, FLJ31356, MIR216A, MIR217, CAPN14, CHAC2, FBXO48, MSH2-OT1, LINC01829, LINC01822, FAM228A, LOC653602, SNORD92, SNORD94, MIR558, MIR559, MAP4K3-DT, C1GALT1C1L, LINC01873, RAD51AP2, DNAJC27-AS1, MORN2, LOC730100, MEIS1-AS3, TRA-AGC8-1, SNORA36C, SNORA70B, MIR216B, SLC8A1-AS1, OST4, TDRD15, LOC100129434, MAPRE3-AS1, LINC01126, LINC01460, LOC100132215, LINC01816, LINC01119, SNAR-H, TRY-GTA2-1, TRG-CCC2-1, TRI-TAT2-1, DCTN1-AS1, ARHGEF33, LOC100271832, CRIM1-DT, MIR1301, MIR1285-2, BABAM2-AS1, GPR75-ASB3, SNORA80B, MIR548S, MIR4264, MIR4261, MIR4263, MIR3125, MIR4262, MIR3126, LINC00276, MIR3682, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LOC100505774, CEBPZOS, SOS1-IT1, LINC02580, SIX3-AS1, LOC100506142, ID2-AS1, MIR3681HG, LOC100506474, LOC100507006, LINC01798, ZNF638-IT1, BOLA3-AS1, LINC01815, RNF103-CHMP3, NT5C1B-RDH14, INO80B-WBP1, MIR4430, MIR4779, MIR4765, MIR4433A, MIR4757, MIR4771-1, MIR4434, MIR4431, MIR4778, MIR4429, MIR4432, MIR548AD, MIR4435-1, PARTICL, MIR5000, MIR5192, MEIS1-AS2, AGBL5-AS1, DGUOK-AS1, LINC00570, TGFA-IT1, ALMS1-IT1, TCF7L1-IT1, HS1BP3-IT1, LINC01964, LINC01883, LINC01799, RMDN2-AS1, LINC02583, LINC01804, EPCAM-DT, LINC01813, LINC01793, LOC101927402, LINC01800, LINC01797, LOC101927661, LINC01812, ATP6V1B1-AS1, LINC01293, LOC101927884, LRRTM4-AS1, LINC01851, LOC101927948, LOC101927967, CTNNA2-AS1, LINC01809, ST3GAL5-AS1, LOC101928222, LINC02850, DTNB-AS1, LINC01871, LOC101929551, LINC00211, LINC01814, LINC02613, LINC01794, ODC1-DT, LINC01914, LINC01954, LOC101929882, MIR4433B, MIR548BA, MIR8080, MIR6071, LINC01884, EML4-AS1, LINC01819, LINC02576, LINC01628, LINC02831, LINC01291, LOC102724579, LINC01828, MIR8485, MYCNUT, BIRC6-AS2, LINC01143, LINC01317, LINC01320, MIR217HG, GACAT3, LINC01808, LAPTM4A-DT, LINC01830, LOC105374378, LOC105374389, LINC01946, LOC105374454, PRKCE-AS1, LINC01820, LINC01867, EML6-AS1, LINC01795, LINC01805, LINC01890, LOC105374820, LINC01381, LINC01318, LOC106560211, APOB3'MAR, APOB-ICR, MIR4432HG, LOC106699567, LOC106728414, LOC106783498, LOC106783504, LOC107457596, LOC107985770, LOC107985856, LINC01833, LOC108021854, LOC108021855, LOC108167315, LOC108281131, LOC108281152, SNORA10B, SNORD53B, LOC110120598, LOC110120611, LOC110120665, LOC110120667, LOC110120668, LOC110120669, LOC110120696, LOC110120746, LOC110120767, HHC2:066522, LOC110120782, LOC110120811, LOC110120817, LOC110120967, LOC110120978, LOC110120979, LOC110120980, LOC110120997, LOC110121003, LOC110121008, LOC110121015, LOC110121018, LOC110121024, HCNR617, LOC110121039, LOC110121045, LOC110121071, LOC110121121, LOC110121122, LOC110121131, LOC110121136, LOC110121178, LOC110121222, LOC110121235, LOC110121243, LOC110121268, LOC110121308, LOC110599580, LOC111258501, HHC2:065915, HHC2:065944, HHC2:066588, HHC2:066628, HHC2:066650, HHC2:066659, LOC111258509, HHC2:067347, HHC2:066104, HHC2:066644, HHC2:066683, LOC111258516, LOC111258517, LOC111258518, LOC111258520, HCNR606, LOC111465020, LOC111556161, LOC111776219, LOC111776220, LOC111828513, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112840921, LOC112840922, LOC112840923, LOC112840924, LOC112840925, LOC112840926, LOC112840927, LOC112840929, LOC112840930, LOC112840931, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112840938, LOC112840939, LOC112840940, LOC112840941, LOC112840942, LOC112840943, LOC112841579, LOC112841580, LOC112841582, LOC112841589, LOC112841592, LOC112841595, LOC112841596, LOC112841597, LOC112841598, LOC112841599, LOC112841600, LOC112841601, LOC112841602, LOC112841603, LOC112841604, LOC112841605, LOC114004370, LOC114004372, LOC114004373, LOC114827832, LOC114827836, LOC114827839, LOC115804257, LOC115804258, LOC115804259, LOC115804260, LOC115804261, LOC115945147, LOC115945149, LOC115945150, LOC115945151, LOC115945152, LOC115945153, LOC115945154, LOC115945155, LOC115945156, LOC115945157, LOC115945158, LOC115945159, LOC115945160, LOC115945161, LOC115945162, LOC115945164, LOC115945183, ACTG2, ACYP2, ADCY3, ADD2, ALK, ANXA4, APOB, RHOB, ATP6V1B1, AUP1, BCYRN1, ZFP36L2, CAD, CALM2, CAPG, CD8A, CD8B, CENPA, CTNNA2, CYP1B1, DCTN1, DDX1, DGUOK, DNAH6, DNMT3A, DOK1, DTNB, E2F6, EGR4, EMX1, EPAS1, EFEMP1, FKBP1B, FOSL2, FSHR, GCKR, GFPT1, GGCX, MSH6, GTF3C2, HADHA, HADHB, HK2, TLX2, HPCAL1, FOXN2, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LHCGR, LTBP1, EPCAM, MXD1, MAT2A, MATN3, MDH1, MEIS1, MPV17, MSH2, MTIF2, MYCN, ODC1, OTX1, REG3A, PCBP1, PEX13, VIT, PIGF, PLEK, PLGLB1, POMC, PPM1B, PPM1G, PPP1CB, PPP3R1, PRKCE, EIF2AK2, RAB1A, REL, REG1A, REG1B, RPS27A, RRM2, RTKN, SDC1, SRSF7, SFTPB, SIX3, SLC1A4, SLC3A1, SLC8A1, SNRPG, SOS1, SPAST, SPR, SPTBN1, SRD5A2, STRN, ADAM17, TACR1, GCFC2, TGFA, TIA1, UCN, UGP2, VRK2, VSNL1, XDH, XPO1, SLC30A3, ALMS1, MOGS, RNF103, DYSF, DUSP11, KLF11, MAP4K3, NCOA1, VAMP8, SUCLG1, ASAP2, ST3GAL5, SLC5A6, EIF2B4, TAF1B, NAT8, COX7A2L, TMSB10, ITGB1BP1, NRXN1, OTOF, CRIPT, ROCK2, TP53I3, MRPL33, BABAM2, PREPL, FEZ2, SOCS5, GREB1, USP34, LAPTM4A, SNX17, SERTAD2, MRPL19, SUPT7L, ARHGAP25, ACTR2, PREB, LRPPRC, PDIA6, CEBPZ, MPHOSPH10, SMYD5, MYCNOS, C1D, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, CGREF1, B3GNT2, USP39, SIX2, VAMP5, MTHFD2, PROKR1, RAB10, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, EMILIN1, GPN1, AAK1, MAPRE3, SLC4A1AP, EFR3B, WDR43, LPIN1, CEP68, PSME4, EXOC6B, EHBP1, PUM2, RHOQ, HAAO, WBP1, NTSR2, PRKD3, RASGRP3, QPCT, VAX2, POLR1A, CNRIP1, FAM98A, RAB11FIP5, IFT172, SNORD53, NFU1, ERLEC1, BMP10, ZNF638, HTRA2, EML4, TRIB2, LGALSL, GRHL1, NRBP1, EHD3, CD207, ITSN2, TPRKB, WDPCP, MEMO1, ASB3, CRIM1, RNF181, DNAJC27, MRPL35, ATRAID, PCYOX1, NAT8B, VPS54, NBAS, DYNC2LI1, SF3B6, YPEL5, CHMP3, CPSF3, BCL11A, ATAD2B, ETAA1, HEATR5B, AFTPH, TMEM214, RETSAT, SLC35F6, C2orf42, TRMT61B, PTCD3, FANCL, SRBD1, MOB1A, ASXL2, NDUFAF7, NAGK, TTC27, SLC30A6, CCDC88A, KDM3A, GKN1, CYP26B1, POLE4, KCNK12, KCMF1, DPYSL5, PNO1, RTN4, TRIM54, PELI1, TTC7A, PPP4R3B, BIRC6, KIDINS220, MTA3, WDR35, RDH14, SLC4A5, NLRC4, AGBL5, LDAH, THADA, RBKS, ATL2, ABCG5, ABCG8, HS1BP3, GMCL1, TTC31, RMND5A, FNDC4, PAPOLG, REEP1, CENPO, GALNT14, CCDC121, SMC6, CLIP4, CAMKMT, GEMIN6, NOL10, ANKRD53, LRRTM4, FBXO11, WDCP, THUMPD2, CYRIA, LBH, TCF7L1, INO80B, WDR54, FAM161A, EVA1A, ANTXR1, ELMOD3, C2orf16, YIPF4, PRADC1, ZNF512, KIAA1841, DPY30, MCEE, LOXL3, ABHD1, PCGF1, CCDC142, FAM136A, ATOH8, SELENOI, LBX2, PNPT1, MCFD2, ATP6V1E2, LOC90784, DHX57, PKDCC, CAPN13, DRC1, HNRNPLL, NT5C1B, SFXN5, CYTOR, CFAP36, TEX261, CCDC85A, KLHL29, WDR92, MRPL53, PPP1R21, TRABD2A, TMEM150A, MBOAT2, C2orf73, CIB4, REG3G, CLHC1, PLEKHH2, OSR1, TTC32, ZNF513, GALM, TMEM178A, C2orf50, SLC66A3, M1AP, COMMD1, FBXO41, TCF23, GAREM2, PUS10, LINC00309, PLB1, LRATD1, RMDN2, GDF7, ASPRV1, LBX2-AS1, ADGRF3, OXER1, TOGARAM2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, TET3, GKN2, APLF, KRTCAP3, TMEM17, SPRED2, SPDYA, ATP6V1C2, LCLAT1, GPATCH11, SH2D6, LOC284950, LINC01936, LINC00486, STPG4, DNAJC5G, IAH1, FLJ33534, CYP1B1-AS1, STON1-GTF2A1L, FAM166C, PRR30, LINC00298, LINC00299, LOC339803, C2orf74, LINC02579
See casesBenign
(Feb 4, 2013)
no assertion criteria providedVCV000152995
2.
GRCh37:
Chr2:77252342-91619262
GRCh38:
Chr2:77025216-90282666
See casesPathogenic
(Aug 30, 2010)
no assertion criteria providedVCV000145403
3.
GRCh37:
Chr2:85241809-89126132
GRCh38:
Chr2:85014686-88826619
See casesPathogenic
(Aug 2, 2013)
no assertion criteria providedVCV000153632
4.
GRCh37:
Chr2:86253552-86469217
GRCh38:
Chr2:86026429-86242094
IMMT, POLR1A, MRPL35, PTCD3, REEP1, SNORD94, MIR4779, LOC106783498, LOC112841602See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000058875
5.
GRCh37:
Chr2:86289130-86509326
GRCh38:
Chr2:86062007-86282203
IMMT, POLR1A, MRPL35, PTCD3, REEP1, SNORD94, MIR4779, LOC112841602See casesLikely benign
(Apr 4, 2013)
no assertion criteria providedVCV000154917
6.
GRCh37:
Chr2:86289130-86509326
GRCh38:
Chr2:86062007-86282203
IMMT, POLR1A, MRPL35, PTCD3, REEP1, SNORD94, MIR4779, LOC112841602See casesUncertain significance
(Jan 25, 2013)
no assertion criteria providedVCV000150348
7.
GRCh37:
Chr2:86301091-86478346
GRCh38:
Chr2:86073968-86251223
IMMT, POLR1A, MRPL35, PTCD3, REEP1, SNORD94, MIR4779, LOC112841602See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000058876
8.
GRCh37:
Chr2:86305370-86509267
GRCh38:
Chr2:86078247-86282144
IMMT, POLR1A, MRPL35, PTCD3, REEP1, SNORD94, MIR4779, LOC112841602See casesUncertain significance
(Nov 30, 2010)
no assertion criteria providedVCV000146038
9.
GRCh37:
Chr2:86441116-86509365
GRCh38:
Chr2:86213993-86282242
REEP1, LOC112841602Spastic paraplegia 31, autosomal dominantUncertain significance
(Dec 19, 2016)
criteria provided, single submitterVCV000417564
10.
GRCh37:
Chr2:86441167
GRCh38:
Chr2:86214044
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337343
11.
GRCh37:
Chr2:86441303
GRCh38:
Chr2:86214180
REEP1Spastic paraplegia, autosomal dominantBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000337344
12.
GRCh37:
Chr2:86441335-86441338
GRCh38:
Chr2:86214212-86214215
REEP1Spastic paraplegia, autosomal dominantBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000337345
13.
GRCh37:
Chr2:86441337
GRCh38:
Chr2:86214214
REEP1Spastic paraplegia, autosomal dominantBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000337346
14.
GRCh37:
Chr2:86441396
GRCh38:
Chr2:86214273
REEP1Spastic paraplegia, autosomal dominantBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000337347
15.
GRCh37:
Chr2:86441429
GRCh38:
Chr2:86214306
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337348
16.
GRCh37:
Chr2:86441583
GRCh38:
Chr2:86214460
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337349
17.
GRCh37:
Chr2:86441604
GRCh38:
Chr2:86214481
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337350
18.
GRCh37:
Chr2:86441649
GRCh38:
Chr2:86214526
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337351
19.
GRCh37:
Chr2:86441677
GRCh38:
Chr2:86214554
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337352
20.
GRCh37:
Chr2:86441705
GRCh38:
Chr2:86214582
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337353
21.
GRCh37:
Chr2:86441782
GRCh38:
Chr2:86214659
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337354
22.
GRCh37:
Chr2:86441852
GRCh38:
Chr2:86214729
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337355
23.
GRCh37:
Chr2:86441962
GRCh38:
Chr2:86214839
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337356
24.
GRCh37:
Chr2:86441973
GRCh38:
Chr2:86214850
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337357
25.
GRCh37:
Chr2:86442031
GRCh38:
Chr2:86214908
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337358
26.
GRCh37:
Chr2:86442111-86442112
GRCh38:
Chr2:86214988-86214989
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337359
27.
GRCh37:
Chr2:86442113
GRCh38:
Chr2:86214990
REEP1Spastic paraplegia, autosomal dominantBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000337360
28.
GRCh37:
Chr2:86442140
GRCh38:
Chr2:86215017
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337361
29.
GRCh37:
Chr2:86442145-86442146
GRCh38:
Chr2:86215022-86215023
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337362
30.
GRCh37:
Chr2:86442146-86442148
GRCh38:
Chr2:86215023-86215025
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337365
31.
GRCh37:
Chr2:86442146-86442147
GRCh38:
Chr2:86215023-86215024
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337364
32.
GRCh37:
Chr2:86442146
GRCh38:
Chr2:86215023
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337363
33.
GRCh37:
Chr2:86442147
GRCh38:
Chr2:86215024
REEP1Spastic paraplegia, autosomal dominantBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000337366
34.
GRCh37:
Chr2:86442170
GRCh38:
Chr2:86215047
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337367
35.
GRCh37:
Chr2:86442309
GRCh38:
Chr2:86215186
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337368
36.
GRCh37:
Chr2:86442548
GRCh38:
Chr2:86215425
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337369
37.
GRCh37:
Chr2:86442643
GRCh38:
Chr2:86215520
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337370
38.
GRCh37:
Chr2:86442747
GRCh38:
Chr2:86215624
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337371
39.
GRCh37:
Chr2:86442837
GRCh38:
Chr2:86215714
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337372
40.
GRCh37:
Chr2:86442905
GRCh38:
Chr2:86215782
REEP1Spastic paraplegia, autosomal dominantBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000337373
41.
GRCh37:
Chr2:86442945
GRCh38:
Chr2:86215822
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337374
42.
GRCh37:
Chr2:86442999
GRCh38:
Chr2:86215876
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337375
43.
GRCh37:
Chr2:86443137-86443138
GRCh38:
Chr2:86216014-86216015
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337376
44.
GRCh37:
Chr2:86443197
GRCh38:
Chr2:86216074
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337377
45.
GRCh37:
Chr2:86443208
GRCh38:
Chr2:86216085
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337378
46.
GRCh37:
Chr2:86443256
GRCh38:
Chr2:86216133
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337379
47.
GRCh37:
Chr2:86443425
GRCh38:
Chr2:86216302
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337380
48.
GRCh37:
Chr2:86443499
GRCh38:
Chr2:86216376
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337381
49.
GRCh37:
Chr2:86443532
GRCh38:
Chr2:86216409
REEP1Spastic paraplegia, autosomal dominantBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000337382
50.
GRCh37:
Chr2:86443770-86443771
GRCh38:
Chr2:86216647-86216648
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337383
51.
GRCh37:
Chr2:86443997
GRCh38:
Chr2:86216874
REEP1Spastic paraplegia, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337384
52.
GRCh37:
Chr2:86444068
GRCh38:
Chr2:86216945
REEP1Spastic paraplegia, autosomal dominant, not providedBenign/Likely benign
(Nov 2, 2017)
criteria provided, multiple submitters, no conflictsVCV000337385
53.
GRCh37:
Chr2:86444142-86444253
GRCh38:
Chr2:86217019-86217130
REEP1Spastic paraplegia 31, autosomal dominantUncertain significance
(Jun 26, 2018)
criteria provided, single submitterVCV000583480
54.
GRCh37:
Chr2:86444152-86509375
GRCh38:
Chr2:86217029-86282252
REEP1, LOC112841602Spastic paraplegia 31, autosomal dominantUncertain significance
(Dec 19, 2018)
criteria provided, single submitterVCV000643719
55.
GRCh37:
Chr2:86444158
GRCh38:
Chr2:86217035
REEP1not providedUncertain significance
(May 31, 2017)
criteria provided, single submitterVCV000444510
56.
GRCh37:
Chr2:86444173
GRCh38:
Chr2:86217050
REEP1E141KSpastic paraplegia, autosomal dominant, not specified, not provided,
Spastic paraplegia 31, autosomal dominant
Conflicting interpretations of pathogenicity
(May 28, 2019)
criteria provided, conflicting interpretationsVCV000215087
57.
GRCh37:
Chr2:86444180
GRCh38:
Chr2:86217057
REEP1not specified, not provided, Spastic paraplegia 31, autosomal dominant
Conflicting interpretations of pathogenicity
(May 28, 2019)
criteria provided, conflicting interpretationsVCV000001861
58.
GRCh37:
Chr2:86444224
GRCh38:
Chr2:86217101
REEP1R124G, *202W, *175W, *209WCharcot-Marie-Tooth disease, Spastic paraplegia 31, autosomal dominant, Spasticity
Conflicting interpretations of pathogenicity
(Jun 17, 2018)
no assertion criteria providedVCV000242633
59.
GRCh37:
Chr2:86444226
GRCh38:
Chr2:86217103
REEP1*175fs, *202fs, *209fs, P123fsSpastic paraplegia 31, autosomal dominantUncertain significance
(Feb 8, 2019)
no assertion criteria providedVCV000617748
60.
GRCh37:
Chr2:86444228
GRCh38:
Chr2:86217105
REEP1A174T, A201T, A208TPolyneuropathyUncertain significance
(Sep 11, 2018)
criteria provided, single submitterVCV000694650
61.
GRCh37:
Chr2:86444248-86444251
GRCh38:
Chr2:86217125-86217128
REEP1not specifiedLikely benign
(Mar 8, 2018)
criteria provided, single submitterVCV000507160
62.
GRCh37:
Chr2:86444249
GRCh38:
Chr2:86217126
REEP1not specifiedBenign
(Sep 17, 2015)
criteria provided, single submitterVCV000378476
63.
GRCh37:
Chr2:86444250
GRCh38:
Chr2:86217127
REEP1not specifiedBenigncriteria provided, single submitterVCV000261634
64.
GRCh37:
Chr2:86444252
GRCh38:
Chr2:86217129
REEP1not specifiedBenign
(Nov 13, 2013)
criteria provided, single submitterVCV000138909
65.
GRCh37:
Chr2:86459747
GRCh38:
Chr2:86232624
REEP1Spastic paraplegia 31, autosomal dominantPathogenic
(Jun 4, 2014)
no assertion criteria providedVCV000224884
66.
GRCh37:
Chr2:86459760
GRCh38:
Chr2:86232637
REEP1A195S, A202S, A168SSpastic paraplegia 31, autosomal dominantUncertain significance
(Jun 18, 2018)
criteria provided, single submitterVCV000534214
67.
GRCh37:
Chr2:86459761
GRCh38:
Chr2:86232638
REEP1A116VSpastic paraplegia, autosomal dominant, not specified, not provided
Likely benign
(Jun 28, 2018)
criteria provided, multiple submitters, no conflictsVCV000281417
68.
GRCh37:
Chr2:86459782
GRCh38:
Chr2:86232659
REEP1M194I, C109Y, M160I, M187ISpastic paraplegia 31, autosomal dominantUncertain significance
(Sep 11, 2018)
criteria provided, single submitterVCV000645747
69.
GRCh37:
Chr2:86459790-86459805
GRCh38:
Chr2:86232667-86232682
REEP1G180fs, G187fs, G153fsnot provided, Spastic paraplegia 31, autosomal dominantLikely pathogenic
(Jun 9, 2017)
criteria provided, multiple submitters, no conflictsVCV000411806
70.
GRCh37:
Chr2:86459801
GRCh38:
Chr2:86232678
REEP1K181T, K188T, N103H, K154TSpastic paraplegia 31, autosomal dominantUncertain significance
(Aug 15, 2017)
criteria provided, single submitterVCV000534219
71.
GRCh37:
Chr2:86459803
GRCh38:
Chr2:86232680
REEP1A102VSpastic paraplegia 31, autosomal dominantUncertain significance
(Feb 14, 2018)
criteria provided, single submitterVCV000568999
72.
GRCh37:
Chr2:86459814
GRCh38:
Chr2:86232691
REEP1R177W, R184W, R150Wnot providedConflicting interpretations of pathogenicity
(Sep 12, 2018)
criteria provided, conflicting interpretationsVCV000245986
73.
GRCh37:
Chr2:86459822
GRCh38:
Chr2:86232699
REEP1G174A, G181A, G147A, G96Rnot providedUncertain significance
(Oct 20, 2017)
criteria provided, single submitterVCV000586652
74.
GRCh37:
Chr2:86459825
GRCh38:
Chr2:86232702
REEP1P173L, P180L, P146L, R95Wnot specified, Spastic paraplegia 31, autosomal dominantConflicting interpretations of pathogenicity
(Oct 15, 2018)
criteria provided, conflicting interpretationsVCV000465821
75.
GRCh37:
Chr2:86459828
GRCh38:
Chr2:86232706
REEP1P172fs, P179fs, P145fs, H94fsSpastic paraplegia 31, autosomal dominantLikely pathogenic
(Oct 16, 2018)
criteria provided, single submitterVCV000653177
76.
GRCh37:
Chr2:86459831
GRCh38:
Chr2:86232708
REEP1P171fs, P178fs, H93fs, P144fsSpastic paraplegia 31, autosomal dominantPathogenic/Likely pathogenic
(May 17, 2017)
criteria provided, multiple submitters, no conflictsVCV000001859
77.
GRCh37:
Chr2:86459848
GRCh38:
Chr2:86232725
REEP1A166fs, L87fs, A139fs, A173fsSpastic paraplegia 31, autosomal dominantLikely pathogenic
(Jul 5, 2018)
criteria provided, single submitterVCV000579902
78.
GRCh37:
Chr2:86459854
GRCh38:
Chr2:86232731
REEP1A85VSpastic paraplegia 31, autosomal dominantUncertain significance
(Feb 13, 2018)
criteria provided, single submitterVCV000565347
79.
GRCh37:
Chr2:86459857
GRCh38:
Chr2:86232734
REEP1T84Mnot specified, not provided, Spastic paraplegia, autosomal dominant
Benign/Likely benign
(Feb 22, 2019)
criteria provided, multiple submitters, no conflictsVCV000219415
80.
GRCh37:
Chr2:86459860
GRCh38:
Chr2:86232737
REEP1E83Gnot specified, not providedLikely benign
(Feb 19, 2019)
criteria provided, multiple submitters, no conflictsVCV000380348
81.
GRCh37:
Chr2:86459898
GRCh38:
Chr2:86232775
REEP1R149W, R156W, R122WSpastic paraplegia 31, autosomal dominantUncertain significance
(May 10, 2018)
criteria provided, single submitterVCV000577059
82.
GRCh37:
Chr2:86459903
GRCh38:
Chr2:86232780
REEP1R147I, R154I, D69Y, R120ISpastic paraplegia 31, autosomal dominantUncertain significance
(Sep 11, 2018)
criteria provided, single submitterVCV000411808
83.
GRCh37:
Chr2:86459908
GRCh38:
Chr2:86232785
REEP1R67Qnot providedLikely benign
(Dec 13, 2018)
criteria provided, single submitterVCV000704764
84.
GRCh37:
Chr2:86459919
GRCh38:
Chr2:86232796
REEP1G149R, G142R, G115R, R63SSpastic paraplegia 31, autosomal dominantUncertain significance
(Oct 23, 2015)
criteria provided, single submitterVCV000220728
85.
GRCh37:
Chr2:86459938
GRCh38:
Chr2:86232815
REEP1not specifiedLikely benign
(Mar 22, 2017)
criteria provided, single submitterVCV000507906
86.
GRCh37:
Chr2:86478869
GRCh38:
Chr2:86251746
REEP1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000669113
87.
GRCh37:
Chr2:86478902
GRCh38:
Chr2:86251779
REEP1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000669111
88.
GRCh37:
Chr2:86479065
GRCh38:
Chr2:86251942
REEP1Spastic paraplegia, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337386
89.
GRCh37:
Chr2:86479082
GRCh38:
Chr2:86251959
REEP1K139*, K146*, K112*Spastic paraplegia 31, autosomal dominantPathogenic
(Oct 2, 2014)
criteria provided, single submitterVCV000188118
90.
GRCh37:
Chr2:86479089
GRCh38:
Chr2:86251966
REEP1Spastic paraplegia 31, autosomal dominant, not specifiedConflicting interpretations of pathogenicity
(Aug 22, 2018)
criteria provided, conflicting interpretationsVCV000386520
91.
GRCh37:
Chr2:86479097
GRCh38:
Chr2:86251974
REEP1V134M, V141M, V107MSpastic paraplegia 31, autosomal dominantUncertain significance
(Dec 8, 2017)
criteria provided, single submitterVCV000534212
92.
GRCh37:
Chr2:86479101
GRCh38:
Chr2:86251978
REEP1not specified, not providedLikely benign
(Aug 16, 2018)
criteria provided, multiple submitters, no conflictsVCV000216736
93.
GRCh37:
Chr2:86479105
GRCh38:
Chr2:86251982
REEP1T138I, T131I, T104ISpastic paraplegia 31, autosomal dominantUncertain significance
(Sep 21, 2017)
criteria provided, single submitterVCV000534213
94.
GRCh37:
Chr2:86479106
GRCh38:
Chr2:86251983
REEP1T131A, T138A, T104ASpastic paraplegia 31, autosomal dominantUncertain significance
(Mar 7, 2018)
criteria provided, single submitterVCV000575897
95.
GRCh37:
Chr2:86479116
GRCh38:
Chr2:86251993
REEP1not specified, not providedBenign
(Feb 12, 2019)
criteria provided, multiple submitters, no conflictsVCV000379204
96.
GRCh37:
Chr2:86479124
GRCh38:
Chr2:86252001
REEP1G125S, G132S, G98SSpastic paraplegia 31, autosomal dominantUncertain significance
(Jun 14, 2018)
criteria provided, single submitterVCV000566687
97.
GRCh37:
Chr2:86479126
GRCh38:
Chr2:86252003
REEP1R124Q, R131Q, R97QSpastic paraplegia 31, autosomal dominantUncertain significance
(Mar 5, 2018)
criteria provided, single submitterVCV000578547
98.
GRCh37:
Chr2:86479134
GRCh38:
Chr2:86252011
REEP1not specifiedLikely benign
(Mar 22, 2017)
criteria provided, single submitterVCV000508132
99.
GRCh37:
Chr2:86479144
GRCh38:
Chr2:86252021
REEP1L118R, L125R, L91RSpastic paraplegia 31, autosomal dominantUncertain significance
(Oct 27, 2017)
criteria provided, single submitterVCV000534220
100.
GRCh37:
Chr2:86479160
GRCh38:
Chr2:86252037
REEP1R113*, R120*, R86*Spastic paraplegia 31, autosomal dominantPathogenic
(Dec 7, 2018)
criteria provided, single submitterVCV000001863
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