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Items: 1 to 100 of 269

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:7635254-88005418
GRCh38:
Chr2:7495123-87705899
SLC4A5, SLC5A6, SLC66A3, SLC8A1, SLC8A1-AS1, SMC6, SMYD5, SNAR-H, SNORA10B, SNORA36C, SNORA70B, SNORA80B, SNORD53, SNORD53B, SNORD92, SNORD94, SNRNP27, SNRPG, SNX17, SOCS5, SOS1, SOS1-IT1, SPAST, SPDYA, SPR, SPRED2, SPTBN1, SPTBN1-AS1, SRBD1, SRD5A2, SRSF7, ST3GAL5, ST3GAL5-AS1, STAMBP, STON1, STON1-GTF2A1L, STPG4, STRN, SUCLG1, SULT6B1, SUPT7L, TACR1, TAF1B, TCF23, TCF7L1, TCF7L1-IT1, TDRD15, TET3, TEX261, TGFA, TGFA-IT1, TGOLN2, THADA, THUMPD2, TIA1, TLX2, TMEM150A, TMEM17, TMEM178A, TMEM214, TMEM247, TMSB10, TOGARAM2, TP53I3, TPRKB, TRA-AGC8-1, TRABD2A, TRG-CCC2-1, TRI-TAT2-1, TRIB2, TRIM54, TRMT61B, TRY-GTA2-1, TSPYL6, TTC27, TTC31, TTC32, TTC7A, UBXN2A, UCN, UGP2, USP34, USP34-DT, USP39, VAMP5, VAMP8, VAX2, VIT, VPS54, VRK2, VSNL1, WBP1, WDCP, WDPCP, WDR35, WDR35-DT, WDR43, WDR54, XDH, XPO1, YIPF4, YPEL5, YWHAQ, ZFP36L2, ZNF512, ZNF513, ZNF638, ZNF638-IT1, AAK1, ABCG5, ABCG8, ABHD1, ACTG2, ACTR2, ACYP2, ADAM17, ADCY3, ADD2, ADGRF3, AFTPH, AFTPH-DT, AGBL5, AGBL5-AS1, ALK, ALMS1, ALMS1-IT1, ANKRD53, ANTXR1, ANXA4, APLF, APOB, APOB-ICR, APOB3'MAR, ARHGAP25, ARHGEF33, ASAP2, ASB3, ASPRV1, ASXL2, ATAD2B, ATL2, ATOH8, ATP6V1B1, ATP6V1B1-AS1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GNT2, BABAM2, BABAM2-AS1, BCL11A, BCYRN1, BIRC6, BIRC6-AS2, BMP10, BOLA3, BOLA3-DT, C1D, C1GALT1C1L, C2orf16, C2orf42, C2orf48, C2orf50, C2orf68, C2orf73, C2orf74, C2orf74-DT, C2orf78, C2orf81, CAD, CALM2, CAMKMT, CAPG, CAPN13, CAPN14, CCDC121, CCDC142, CCDC85A, CCDC88A, CCT4, CCT7, CD207, CD8A, CD8B, CDC42EP3, CDKL4, CEBPZ, CEBPZOS, CENPA, CENPO, CEP68, CFAP36, CGREF1, CHAC2, CHMP3, CHMP3-AS1, CIB4, CLEC4F, CLHC1, CLIP4, CNRIP1, COMMD1, COX7A2L, CPSF3, CRIM1, CRIM1-DT, CRIPT, CTNNA2, CTNNA2-AS1, CYP1B1, CYP1B1-AS1, CYP26B1, CYRIA, CYS1, CYTOR, DCTN1, DCTN1-AS1, DDX1, DGUOK, DGUOK-AS1, DHX57, DNAAF10, DNAH6, DNAJC27, DNAJC27-AS1, DNAJC5G, DNMT3A, DOK1, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTNB-AS1, DUSP11, DYNC2LI1, DYSF, E2F6, EFEMP1, EFR3B, EGR4, EHBP1, EHBP1-AS1, EHD3, EIF2AK2, EIF2B4, ELMOD3, EMILIN1, EML4, EML4-AS1, EML6, EML6-AS1, EMX1, EPAS1, EPCAM, EPCAM-DT, ERLEC1, ETAA1, EVA1A, EVA1A-AS, EXOC6B, FAM136A, FAM161A, FAM166C, FAM228A, FAM228B, FAM98A, FANCL, FBXO11, FBXO41, FBXO48, FEZ2, FIGLA, FKBP1B, FLJ33534, FNDC4, FOSL2, FOSL2-AS1, FOXN2, FSHR, GACAT3, GALM, GALNT14, GAREM2, GCFC2, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GKN1, GKN2, GMCL1, GNLY, GPATCH11, GPN1, GPR75, GPR75-ASB3, GREB1, GRHL1, GTF2A1L, GTF3C2, GTF3C2-AS1, GTF3C2-AS2, HAAO, HADHA, HADHB, HCNR606, HCNR617, HEATR5B, HHC2:065915, HHC2:065944, HHC2:066104, HHC2:066522, HHC2:066588, HHC2:066628, HHC2:066644, HHC2:066650, HHC2:066659, HHC2:066683, HHC2:067347, HK2, HNRNPLL, HPCAL1, HS1BP3, HS1BP3-IT1, HTRA2, IAH1, ID2, ID2-AS1, IFT172, IMMT, INO80B, INO80B-WBP1, ITGB1BP1, ITSN2, KCMF1, KCNF1, KCNG3, KCNK12, KCNK3, KCNS3, KDM3A, KHK, KIDINS220, KIF3C, KLF11, KLHL29, KRTCAP3, LAPTM4A, LAPTM4A-DT, LBH, LBX2, LBX2-AS1, LCLAT1, LDAH, LGALSL, LHCGR, LINC00211, LINC00276, LINC00298, LINC00299, LINC00309, LINC00486, LINC00570, LINC00954, LINC01118, LINC01119, LINC01121, LINC01122, LINC01126, LINC01143, LINC01291, LINC01293, LINC01317, LINC01318, LINC01320, LINC01376, LINC01381, LINC01460, LINC01628, LINC01793, LINC01794, LINC01795, LINC01797, LINC01798, LINC01799, LINC01800, LINC01804, LINC01805, LINC01808, LINC01809, LINC01812, LINC01813, LINC01814, LINC01815, LINC01816, LINC01819, LINC01820, LINC01822, LINC01828, LINC01829, LINC01830, LINC01833, LINC01851, LINC01867, LINC01871, LINC01873, LINC01883, LINC01884, LINC01890, LINC01913, LINC01914, LINC01936, LINC01946, LINC01954, LINC01964, LINC02245, LINC02576, LINC02579, LINC02580, LINC02583, LINC02613, LINC02831, LINC02850, LINC02898, LINC02923, LINC02934, LOC100129434, LOC100271832, LOC100505716, LOC100505736, LOC100505774, LOC100506474, LOC100507006, LOC101927661, LOC101927948, LOC101927967, LOC101929551, LOC101929882, LOC102724579, LOC105374378, LOC105374389, LOC105374811, LOC105374820, LOC106560211, LOC106699567, LOC106728414, LOC106783498, LOC106783504, LOC107457596, LOC107984043, LOC107985770, LOC107985792, LOC107985856, LOC108021854, LOC108021855, LOC108167315, LOC108281131, LOC108281152, LOC110120598, LOC110120611, LOC110120665, LOC110120667, LOC110120668, LOC110120669, LOC110120696, LOC110120746, LOC110120767, LOC110120782, LOC110120811, LOC110120817, LOC110120967, LOC110120978, LOC110120979, LOC110120980, LOC110120997, LOC110121003, LOC110121008, LOC110121015, LOC110121018, LOC110121024, LOC110121039, LOC110121045, LOC110121071, LOC110121121, LOC110121122, LOC110121131, LOC110121136, LOC110121178, LOC110121222, LOC110121235, LOC110121243, LOC110121268, LOC110121308, LOC110599580, LOC111258501, LOC111258509, LOC111258516, LOC111258517, LOC111258518, LOC111258520, 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, LOC120961742, LOC120961743, LOC120961744, LOC120961745, LOC120961746, LOC120961747, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC120961756, LOC120961757, LOC120961758, LOC120961759, LOC120961760, LOC120961761, LOC120961762, LOC120961763, LOC120961764, LOC120961765, LOC120961766, LOC120961767, LOC120961768, LOC284950, LOC375196, LOC653602, LOC730100, LOC90784, LOXL3, LPIN1, LRATD1, LRPPRC, LRRTM1, LRRTM4, LRRTM4-AS1, LTBP1, M1AP, MAP4K3, MAP4K3-DT, MAPRE3, MAPRE3-AS1, MAT2A, MATN3, MBOAT2, MCEE, MCFD2, MDH1, MEIS1, MEIS1-AS2, MEIS1-AS3, MEMO1, MFSD2B, MIR1285-2, MIR1301, MIR216A, MIR216B, MIR217, MIR217HG, MIR3125, MIR3126, MIR3681, MIR3681HG, MIR3682, MIR4261, MIR4262, MIR4263, MIR4264, MIR4429, MIR4430, MIR4431, MIR4432, MIR4432HG, MIR4433A, MIR4433B, MIR4434, MIR4435-1, MIR4757, MIR4765, MIR4771-1, MIR4778, MIR4779, MIR5000, MIR5192, MIR548AD, MIR548BA, MIR548S, MIR558, MIR559, MIR6071, MIR8080, MIR8485, MOB1A, MOGS, MORN2, MPHOSPH10, MPV17, MRPL19, MRPL33, MRPL35, MRPL53, MSGN1, MSH2, MSH2-OT1, MSH6, MTA3, MTHFD2, MTIF2, MXD1, MYCN, MYCNOS, MYCNUT, NAGK, NAT8, NAT8B, NBAS, NCOA1, NDUFAF7, NFU1, NLRC4, NOL10, NOTO, NRBP1, NRXN1, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OTX1, OXER1, PAIP2B, PAPOLG, PARTICL, PCARE, PCBP1, PCBP1-AS1, PCGF1, PCYOX1, PDIA6, PELI1, PEX13, PFN4, PIGF, PKDCC, PLB1, PLEK, PLEKHH2, PLGLB1, PNO1, PNPT1, POLE4, POLR1A, POMC, PPM1B, PPM1G, PPP1CB, PPP1R21, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PROKR1, PRR30, PSME4, PTCD3, PTRHD1, PUM2, PUS10, QPCT, RAB10, RAB11FIP5, RAB1A, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, REL-DT, RETSAT, RGPD1, RHOB, RHOQ, RHOQ-AS1, RMDN2, RMDN2-AS1, RMND5A, RNF103, RNF103-CHMP3, RNF181, ROCK2, RPS27A, RRM2, RTKN, RTN4, SANBR, SDC1, SELENOI, SEMA4F, SERTAD2, SF3B6, SFTPB, SFXN5, SH2D6, SIX2, SIX3, SIX3-AS1, SLC1A4, SLC30A3, SLC30A6, SLC35F6, SLC3A1, SLC4A1AP
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:
Chr2:85772061-85772062
GRCh38:
Chr2:85544938-85544939
GGCX, MAT2AVitamin K-Dependent Clotting FactorsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337172
5.
GRCh37:
Chr2:85772061
GRCh38:
Chr2:85544938
GGCX, MAT2AVitamin K-Dependent Clotting FactorsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337171
6.
GRCh37:
Chr2:85772162
GRCh38:
Chr2:85545039
GGCX, MAT2AVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337173
7.
GRCh37:
Chr2:85772209
GRCh38:
Chr2:85545086
GGCX, MAT2AVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898899
8.
GRCh37:
Chr2:85772217
GRCh38:
Chr2:85545094
GGCX, MAT2AVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Apr 27, 2017)
criteria provided, single submitterVCV000898900
9.
GRCh37:
Chr2:85772259
GRCh38:
Chr2:85545136
GGCX, MAT2AVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898901
10.
GRCh37:
Chr2:85772313
GRCh38:
Chr2:85545190
GGCX, MAT2AVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337174
11.
GRCh37:
Chr2:85772331
GRCh38:
Chr2:85545208
MAT2A, GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337175
12.
GRCh37:
Chr2:85772337
GRCh38:
Chr2:85545214
GGCX, MAT2AVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000895937
13.
GRCh37:
Chr2:85772376
GRCh38:
Chr2:85545253
MAT2A, GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000895938
14.
GRCh37:
Chr2:85772478
GRCh38:
Chr2:85545355
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337176
15.
GRCh37:
Chr2:85772495
GRCh38:
Chr2:85545372
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337177
16.
GRCh37:
Chr2:85772519
GRCh38:
Chr2:85545396
GGCXVitamin K-Dependent Clotting FactorsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337178
17.
GRCh37:
Chr2:85772548
GRCh38:
Chr2:85545425
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000337179
18.
GRCh37:
Chr2:85772582
GRCh38:
Chr2:85545459
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000895939
19.
GRCh37:
Chr2:85772628
GRCh38:
Chr2:85545505
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337180
20.
GRCh37:
Chr2:85772644
GRCh38:
Chr2:85545521
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000896218
21.
GRCh37:
Chr2:85772660
GRCh38:
Chr2:85545537
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896219
22.
GRCh37:
Chr2:85772691
GRCh38:
Chr2:85545568
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896220
23.
GRCh37:
Chr2:85772743
GRCh38:
Chr2:85545620
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337181
24.
GRCh37:
Chr2:85772769
GRCh38:
Chr2:85545646
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337182
25.
GRCh37:
Chr2:85772815
GRCh38:
Chr2:85545692
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896221
26.
GRCh37:
Chr2:85772842
GRCh38:
Chr2:85545719
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337183
27.
GRCh37:
Chr2:85772862
GRCh38:
Chr2:85545739
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 15, 2018)
criteria provided, single submitterVCV000896222
28.
GRCh37:
Chr2:85772979
GRCh38:
Chr2:85545856
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000897822
29.
GRCh37:
Chr2:85773010
GRCh38:
Chr2:85545887
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337184
30.
GRCh37:
Chr2:85773061
GRCh38:
Chr2:85545938
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337185
31.
GRCh37:
Chr2:85773127
GRCh38:
Chr2:85546004
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000897823
32.
GRCh37:
Chr2:85773133
GRCh38:
Chr2:85546010
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337186
33.
GRCh37:
Chr2:85773136
GRCh38:
Chr2:85546013
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337187
34.
GRCh37:
Chr2:85773182
GRCh38:
Chr2:85546059
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000337188
35.
GRCh37:
Chr2:85773216
GRCh38:
Chr2:85546093
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898974
36.
GRCh37:
Chr2:85773235-85773236
GRCh38:
Chr2:85546112-85546113
GGCXVitamin K-Dependent Clotting FactorsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337189
37.
GRCh37:
Chr2:85773252
GRCh38:
Chr2:85546129
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000337190
38.
GRCh37:
Chr2:85773287
GRCh38:
Chr2:85546164
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898975
39.
GRCh37:
Chr2:85773300
GRCh38:
Chr2:85546177
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337191
40.
GRCh37:
Chr2:85773301
GRCh38:
Chr2:85546178
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000898976
41.
GRCh37:
Chr2:85773305
GRCh38:
Chr2:85546182
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337192
42.
GRCh37:
Chr2:85773353
GRCh38:
Chr2:85546230
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337193
43.
GRCh37:
Chr2:85773354
GRCh38:
Chr2:85546231
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898977
44.
GRCh37:
Chr2:85773410
GRCh38:
Chr2:85546287
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337194
45.
GRCh37:
Chr2:85773413
GRCh38:
Chr2:85546290
GGCXVitamin K-Dependent Clotting FactorsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337195
46.
GRCh37:
Chr2:85773427
GRCh38:
Chr2:85546304
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337196
47.
GRCh37:
Chr2:85773451
GRCh38:
Chr2:85546328
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337197
48.
GRCh37:
Chr2:85773473
GRCh38:
Chr2:85546350
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000894845
49.
GRCh37:
Chr2:85773476
GRCh38:
Chr2:85546353
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Apr 6, 2018)
criteria provided, single submitterVCV000894846
50.
GRCh37:
Chr2:85773539-85773540
GRCh38:
Chr2:85546416-85546417
GGCXVitamin K-Dependent Clotting FactorsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337198
51.
GRCh37:
Chr2:85773540
GRCh38:
Chr2:85546417
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337199
52.
GRCh37:
Chr2:85773610
GRCh38:
Chr2:85546487
GGCXVitamin K-Dependent Clotting FactorsLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337200
53.
GRCh37:
Chr2:85773626
GRCh38:
Chr2:85546503
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337201
54.
GRCh37:
Chr2:85773641
GRCh38:
Chr2:85546518
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337202
55.
GRCh37:
Chr2:85773654-85773655
GRCh38:
Chr2:85546531-85546532
GGCXVitamin K-Dependent Clotting FactorsBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000337203
56.
GRCh37:
Chr2:85773659
GRCh38:
Chr2:85546536
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337204
57.
GRCh37:
Chr2:85773664
GRCh38:
Chr2:85546541
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896285
58.
GRCh37:
Chr2:85773685-85773687
GRCh38:
Chr2:85546562-85546564
GGCXVitamin K-Dependent Clotting FactorsLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337205
59.
GRCh37:
Chr2:85773788
GRCh38:
Chr2:85546665
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896286
60.
GRCh37:
Chr2:85773865
GRCh38:
Chr2:85546742
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000896287
61.
GRCh37:
Chr2:85773880
GRCh38:
Chr2:85546757
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896288
62.
GRCh37:
Chr2:85773986
GRCh38:
Chr2:85546863
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337206
63.
GRCh37:
Chr2:85773990
GRCh38:
Chr2:85546867
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000896289
64.
GRCh37:
Chr2:85774004
GRCh38:
Chr2:85546881
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337207
65.
GRCh37:
Chr2:85774010
GRCh38:
Chr2:85546887
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337208
66.
GRCh37:
Chr2:85774057
GRCh38:
Chr2:85546934
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000897904
67.
GRCh37:
Chr2:85774083
GRCh38:
Chr2:85546960
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337209
68.
GRCh37:
Chr2:85774092
GRCh38:
Chr2:85546969
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000897905
69.
GRCh37:
Chr2:85774108
GRCh38:
Chr2:85546985
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000337210
70.
GRCh37:
Chr2:85774132
GRCh38:
Chr2:85547009
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337211
71.
GRCh37:
Chr2:85774163-85774165
GRCh38:
Chr2:85547040-85547042
GGCXVitamin K-Dependent Clotting FactorsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337212
72.
GRCh37:
Chr2:85774165
GRCh38:
Chr2:85547042
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897906
73.
GRCh37:
Chr2:85774235
GRCh38:
Chr2:85547112
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000337213
74.
GRCh37:
Chr2:85774246
GRCh38:
Chr2:85547123
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000899040
75.
GRCh37:
Chr2:85774283
GRCh38:
Chr2:85547160
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899041
76.
GRCh37:
Chr2:85774317
GRCh38:
Chr2:85547194
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000899042
77.
GRCh37:
Chr2:85774341
GRCh38:
Chr2:85547218
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899043
78.
GRCh37:
Chr2:85774410
GRCh38:
Chr2:85547287
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337214
79.
GRCh37:
Chr2:85774497
GRCh38:
Chr2:85547374
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337215
80.
GRCh37:
Chr2:85774567
GRCh38:
Chr2:85547444
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899044
81.
GRCh37:
Chr2:85774649
GRCh38:
Chr2:85547526
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337216
82.
GRCh37:
Chr2:85774676
GRCh38:
Chr2:85547553
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000337217
83.
GRCh37:
Chr2:85774753
GRCh38:
Chr2:85547630
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337218
84.
GRCh37:
Chr2:85774758
GRCh38:
Chr2:85547635
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337219
85.
GRCh37:
Chr2:85774772
GRCh38:
Chr2:85547649
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337220
86.
GRCh37:
Chr2:85774773
GRCh38:
Chr2:85547650
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337221
87.
GRCh37:
Chr2:85774831
GRCh38:
Chr2:85547708
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000894914
88.
GRCh37:
Chr2:85774997
GRCh38:
Chr2:85547874
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337222
89.
GRCh37:
Chr2:85775092
GRCh38:
Chr2:85547969
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000337223
90.
GRCh37:
Chr2:85775141
GRCh38:
Chr2:85548018
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000337224
91.
GRCh37:
Chr2:85775238
GRCh38:
Chr2:85548115
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337225
92.
GRCh37:
Chr2:85775320-85775321
GRCh38:
Chr2:85548197-85548198
GGCXVitamin K-Dependent Clotting FactorsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337226
93.
GRCh37:
Chr2:85775330
GRCh38:
Chr2:85548207
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896359
94.
GRCh37:
Chr2:85775330
GRCh38:
Chr2:85548207
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000896358
95.
GRCh37:
Chr2:85775332
GRCh38:
Chr2:85548209
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896360
96.
GRCh37:
Chr2:85775336
GRCh38:
Chr2:85548213
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337227
97.
GRCh37:
Chr2:85775345
GRCh38:
Chr2:85548222
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000896361
98.
GRCh37:
Chr2:85775359
GRCh38:
Chr2:85548236
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337228
99.
GRCh37:
Chr2:85775371
GRCh38:
Chr2:85548248
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897972
100.
GRCh37:
Chr2:85775453
GRCh38:
Chr2:85548330
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897973
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