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Items: 93

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:160085604
GRCh38:
Chr1:160115814
ATP1A2not specifiedGMAF:0.00120(G)Benign
(Mar 8, 2012)
criteria provided, single submitter
2.
GRCh37:
Chr1:160085638
GRCh38:
Chr1:160115848
ATP1A2not specifiedLikely benign
(Apr 25, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr1:160085659
GRCh38:
Chr1:160115869
ATP1A2not specifiedUncertain significance
(Mar 21, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr1:160090682
GRCh38:
Chr1:160120892
ATP1A2not specifiedBenign
(Sep 7, 2012)
criteria provided, single submitter
5.
GRCh37:
Chr1:160090685-160090688
GRCh38:
Chr1:160120895-160120898
ATP1A2not specifiedBenign
(Mar 17, 2014)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:160090708
GRCh38:
Chr1:160120918
ATP1A2not specifiedGMAF:0.00040(A)Likely benign
(Dec 23, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr1:160090739
GRCh38:
Chr1:160120949
ATP1A2not specifiedUncertain significance
(Dec 5, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr1:160090992
GRCh38:
Chr1:160121202
ATP1A2not specifiedUncertain significance
(Oct 24, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr1:160090993
GRCh38:
Chr1:160121203
ATP1A2not specifiedGO-ESP:0.00946(A)
GMAF:0.00660(A)
Benign/Likely benign
(Nov 26, 2012)
criteria provided, single submitter
10.
GRCh37:
Chr1:160091016
GRCh38:
Chr1:160121226
ATP1A2not specifiedGMAF:0.00040(A)Uncertain significance
(Jul 21, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr1:160093017
GRCh38:
Chr1:160123227
ATP1A2not specifiedUncertain significance
(Jan 7, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr1:160093018
GRCh38:
Chr1:160123228
ATP1A2Familial hemiplegic migraine type 2GO-ESP:0.00008(T)Pathogenic
(Feb 19, 2015)
no assertion criteria provided
13.
GRCh37:
Chr1:160093019
GRCh38:
Chr1:160123229
ATP1A2not specified, not providedGMAF:0.00100(T)Conflicting interpretations of pathogenicity
(Apr 8, 2015)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr1:160093071
GRCh38:
Chr1:160123281
ATP1A2not specifiedGMAF:0.00120(G)Benign
(Oct 23, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr1:160093099
GRCh38:
Chr1:160123309
ATP1A2not specifiedUncertain significance
(Oct 6, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr1:160093165
GRCh38:
Chr1:160123375
ATP1A2not specified, not providedGO-ESP:0.00062(A)
GMAF:0.00100(A)
Conflicting interpretations of pathogenicity
(Sep 22, 2014)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr1:160093222
GRCh38:
Chr1:160123432
ATP1A2not specifiedGMAF:0.05750(C)Benign
(Jul 17, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr1:160093832
GRCh38:
Chr1:160124042
ATP1A2not specifiedUncertain significance
(Apr 8, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr1:160094119
GRCh38:
Chr1:160124329
ATP1A2not specifiedUncertain significance
(Jul 14, 2014)
criteria provided, single submitter
20.
GRCh37:
Chr1:160097429
GRCh38:
Chr1:160127639
ATP1A2not specified, not providedGMAF:0.00020(A)Conflicting interpretations of pathogenicity
(Jun 4, 2014)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr1:160097450
GRCh38:
Chr1:160127660
ATP1A2Familial hemiplegic migraine type 2Pathogenic
(Feb 19, 2015)
no assertion criteria provided
22.
GRCh37:
Chr1:160097494
GRCh38:
Chr1:160127704
ATP1A2Familial hemiplegic migraine type 2Pathogenic
(Feb 19, 2015)
no assertion criteria provided
23.
GRCh37:
Chr1:160097570
GRCh38:
Chr1:160127780
ATP1A2not specifiedUncertain significance
(Oct 17, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr1:160098457
GRCh38:
Chr1:160128667
ATP1A2Familial hemiplegic migraine type 2Pathogenic
(Feb 19, 2015)
no assertion criteria provided
25.
GRCh37:
Chr1:160098515
GRCh38:
Chr1:160128725
ATP1A2not providedPathogenic
(Apr 18, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr1:160098516
GRCh38:
Chr1:160128726
ATP1A2not specifiedBenign
(Jul 28, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr1:160098543
GRCh38:
Chr1:160128753
ATP1A2not specifiedGO-ESP:0.19245(A)
GMAF:0.20970(A)
Benign/Likely benign
(Jul 4, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr1:160098549
GRCh38:
Chr1:160128759
ATP1A2not specifiedGMAF:0.00320(A)Benign
(Jul 4, 2014)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr1:160098551
GRCh38:
Chr1:160128761
ATP1A2not providedPathogenic
(Sep 4, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr1:160098551
GRCh38:
Chr1:160128761
ATP1A2Familial hemiplegic migraine type 2Pathogenic
(Feb 19, 2015)
no assertion criteria provided
31.
GRCh37:
Chr1:160098552
GRCh38:
Chr1:160128762
ATP1A2not specifiedGMAF:0.00020(A)Benign
(May 6, 2014)
criteria provided, single submitter
32.
GRCh37:
Chr1:160098557
GRCh38:
Chr1:160128767
ATP1A2Alternating hemiplegia of childhood 1Pathogenic
(Nov 9, 2012)
no assertion criteria provided
33.
GRCh37:
Chr1:160098572
GRCh38:
Chr1:160128782
ATP1A2not providedLikely pathogenic
(Jul 23, 2014)
criteria provided, single submitter
34.
GRCh37:
Chr1:160098645
GRCh38:
Chr1:160128855
ATP1A2not specifiedBenign
(Jun 18, 2014)
criteria provided, single submitter
35.
GRCh37:
Chr1:160098797
GRCh38:
Chr1:160129007
ATP1A2Familial hemiplegic migraine type 2Pathogenic
(Feb 19, 2015)
no assertion criteria provided
36.
GRCh37:
Chr1:160098870
GRCh38:
Chr1:160129080
ATP1A2not specifiedBenign
(Dec 26, 2014)
criteria provided, single submitter
37.
GRCh37:
Chr1:160099144
GRCh38:
Chr1:160129354
ATP1A2not specifiedGMAF:0.00100(G)Uncertain significance
(Jun 29, 2013)
criteria provided, single submitter
38.
GRCh37:
Chr1:160099887
GRCh38:
Chr1:160130097
ATP1A2not specifiedLikely benign
(Sep 25, 2013)
criteria provided, single submitter
39.
GRCh37:
Chr1:160099904
GRCh38:
Chr1:160130114
ATP1A2not specifiedGMAF:0.00040(A)Uncertain significance
(Jan 6, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr1:160099931
GRCh38:
Chr1:160130141
ATP1A2not specifiedGMAF:0.00020(A)Uncertain significance
(Mar 19, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr1:160099959
GRCh38:
Chr1:160130169
ATP1A2not specifiedUncertain significance
(Jun 11, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr1:160099971
GRCh38:
Chr1:160130181
ATP1A2not specifiedUncertain significance
(Oct 31, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr1:160100073
GRCh38:
Chr1:160130283
ATP1A2Migraine, familial basilarPathogenic
(Nov 9, 2012)
no assertion criteria provided
44.
GRCh37:
Chr1:160100194
GRCh38:
Chr1:160130404
ATP1A2not specifiedBenign
(Mar 19, 2014)
criteria provided, single submitter
45.
GRCh37:
Chr1:160100205
GRCh38:
Chr1:160130415
ATP1A2not specifiedGMAF:0.00260(G)Benign
(Mar 14, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr1:160100205
GRCh38:
Chr1:160130415
ATP1A2not specifiedGMAF:0.00260(G)Benign
(Oct 1, 2013)
criteria provided, single submitter
47.
GRCh37:
Chr1:160100226
GRCh38:
Chr1:160130436
ATP1A2not specified, not providedConflicting interpretations of pathogenicity
(May 1, 2015)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr1:160100250
GRCh38:
Chr1:160130460
ATP1A2not specifiedUncertain significance
(Sep 11, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr1:160100251
GRCh38:
Chr1:160130461
ATP1A2not specifiedUncertain significance
(Mar 5, 2014)
criteria provided, single submitter
50.
GRCh37:
Chr1:160100264
GRCh38:
Chr1:160130474
ATP1A2not specifiedGO-ESP:0.03814(T)
GMAF:0.02780(T)
Benign/Likely benign
(Jun 12, 2012)
criteria provided, single submitter
51.
GRCh37:
Chr1:160100381
GRCh38:
Chr1:160130591
ATP1A2not specifiedUncertain significance
(Mar 1, 2013)
criteria provided, single submitter
52.
GRCh37:
Chr1:160104337
GRCh38:
Chr1:160134547
ATP1A2not specifiedUncertain significance
(Apr 9, 2014)
criteria provided, single submitter
53.
GRCh37:
Chr1:160104377
GRCh38:
Chr1:160134587
ATP1A2not specifiedUncertain significance
(Jul 1, 2014)
criteria provided, single submitter
54.
GRCh37:
Chr1:160104950
GRCh38:
Chr1:160135160
ATP1A2not specifiedGO-ESP:0.02330(T)
GMAF:0.02080(T)
Benign/Likely benign
(May 8, 2012)
criteria provided, single submitter
55.
GRCh37:
Chr1:160105036
GRCh38:
Chr1:160135246
ATP1A2Familial hemiplegic migraine type 2Pathogenic
(Feb 19, 2015)
no assertion criteria provided
56.
GRCh37:
Chr1:160105099
GRCh38:
Chr1:160135309
ATP1A2not specifiedGMAF:0.00120(T)Benign
(May 21, 2014)
criteria provided, single submitter
57.
GRCh37:
Chr1:160105260
GRCh38:
Chr1:160135470
ATP1A2Familial hemiplegic migraine type 2Pathogenic
(Feb 19, 2015)
no assertion criteria provided
58.
GRCh37:
Chr1:160105300
GRCh38:
Chr1:160135510
ATP1A2Familial hemiplegic migraine type 2Pathogenic
(Nov 9, 2012)
no assertion criteria provided
59.
GRCh37:
Chr1:160105367
GRCh38:
Chr1:160135577
ATP1A2not specifiedGO-ESP:0.08496(T)
GMAF:0.06310(T)
Likely benignno assertion criteria provided
60.
GRCh37:
Chr1:160105379
GRCh38:
Chr1:160135589
ATP1A2not specifiedUncertain significance
(Apr 2, 2014)
criteria provided, single submitter
61.
GRCh37:
Chr1:160105381
GRCh38:
Chr1:160135591
ATP1A2not specifiedGMAF:0.00040(C)Uncertain significance
(Aug 25, 2014)
criteria provided, single submitter
62.
GRCh37:
Chr1:160105410
GRCh38:
Chr1:160135620
ATP1A2not specifiedGMAF:0.00060(T)Benign
(Mar 12, 2014)
criteria provided, single submitter
63.
GRCh37:
Chr1:160105635
GRCh38:
Chr1:160135845
ATP1A2Familial hemiplegic migraine type 2Pathogenic
(Nov 9, 2012)
no assertion criteria provided
64.
GRCh37:
Chr1:160105718
GRCh38:
Chr1:160135928
ATP1A2not specifiedUncertain significance
(Mar 14, 2014)
criteria provided, single submitter
65.
GRCh37:
Chr1:160105756
GRCh38:
Chr1:160135966
ATP1A2not providedGMAF:0.00040(T)Uncertain significance
(Dec 20, 2014)
criteria provided, single submitter
66.
GRCh37:
Chr1:160105782
GRCh38:
Chr1:160135992
ATP1A2not specifiedUncertain significance
(Dec 9, 2013)
criteria provided, single submitter
67.
GRCh37:
Chr1:160105789
GRCh38:
Chr1:160135999
ATP1A2not specifiedBenign
(Jan 2, 2015)
criteria provided, single submitter
68.
GRCh37:
Chr1:160106111
GRCh38:
Chr1:160136321
ATP1A2not specifiedGMAF:0.00020(A)Benign
(Feb 4, 2014)
criteria provided, single submitter
69.
GRCh37:
Chr1:160106114
GRCh38:
Chr1:160136324
ATP1A2not specifiedUncertain significance
(Sep 18, 2014)
criteria provided, single submitter
70.
GRCh37:
Chr1:160106117
GRCh38:
Chr1:160136327
ATP1A2not providedUncertain significance
(Aug 27, 2013)
criteria provided, single submitter
71.
GRCh37:
Chr1:160106159
GRCh38:
Chr1:160136369
ATP1A2not specifiedLikely benign
(Mar 1, 2013)
criteria provided, single submitter
72.
GRCh37:
Chr1:160106164
GRCh38:
Chr1:160136374
ATP1A2not specifiedGO-ESP:0.00015(T)
GMAF:0.00300(T)
Benign/Likely benign
(May 7, 2013)
criteria provided, single submitter
73.
GRCh37:
Chr1:160106455
GRCh38:
Chr1:160136665
ATP1A2Familial hemiplegic migraine type 2Pathogenic
(Nov 9, 2012)
no assertion criteria provided
74.
GRCh37:
Chr1:160106471
GRCh38:
Chr1:160136681
ATP1A2not providedUncertain significance
(Dec 30, 2014)
criteria provided, single submitter
75.
GRCh37:
Chr1:160106516
GRCh38:
Chr1:160136726
ATP1A2not specifiedGMAF:0.00100(T)Benign
(Oct 1, 2013)
criteria provided, single submitter
76.
GRCh37:
Chr1:160106732
GRCh38:
Chr1:160136942
ATP1A2not specified, not providedGMAF:0.00040(A)Conflicting interpretations of pathogenicity
(May 15, 2015)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr1:160109410
GRCh38:
Chr1:160139620
ATP1A2not specifiedBenign
(Jan 22, 2013)
criteria provided, single submitter
78.
GRCh37:
Chr1:160109466
GRCh38:
Chr1:160139676
ATP1A2not specifiedGMAF:0.00240(A)Benign
(Jun 25, 2014)
criteria provided, single submitter
79.
GRCh37:
Chr1:160109525
GRCh38:
Chr1:160139735
ATP1A2Familial hemiplegic migraine type 2Pathogenic
(Feb 19, 2015)
no assertion criteria provided
80.
GRCh37:
Chr1:160109526
GRCh38:
Chr1:160139736
ATP1A2not specifiedBenign
(Jan 31, 2014)
criteria provided, single submitter
81.
GRCh37:
Chr1:160109668
GRCh38:
Chr1:160139878
ATP1A2not providedGMAF:0.00140(T)Benign
(Apr 4, 2013)
criteria provided, single submitter
82.
GRCh37:
Chr1:160109701
GRCh38:
Chr1:160139911
ATP1A2not specifiedGO-ESP:0.02837(T)
GMAF:0.02400(T)
Likely benignno assertion criteria provided
83.
GRCh37:
Chr1:160109707
GRCh38:
Chr1:160139917
ATP1A2not specifiedGMAF:0.00260(T)Benign
(Sep 24, 2014)
criteria provided, single submitter
84.
GRCh37:
Chr1:160109780
GRCh38:
Chr1:160139990
ATP1A2not providedGMAF:0.00200(A)Uncertain significance
(Jul 21, 2014)
criteria provided, single submitter
85.
GRCh37:
Chr1:160111118
GRCh38:
Chr1:160141328
ATP1A2not specifiedLikely benign
(Jun 5, 2013)
criteria provided, single submitter
86.
GRCh37:
Chr1:160111127-160111129
GRCh38:
Chr1:160141337-160141339
ATP1A2not specifiedBenign
(Sep 22, 2014)
criteria provided, single submitter
87.
GRCh37:
Chr1:149825831-180236332
GRCh38:
Chr1:149854269-180267197
ABL2, ADAR, ALDH9A1, APCS, APOA2, FASLG, ARNT, ASTN1, SERPINC1, ATP1A2, ATP1A4, ATP1B1, BGLAP, CASQ1, CD1A, CD1B, CD1C, CD1D, CD1E, CD247, CD5L, CD48, CHRNB2, CKS1B, CLK2, COPA, CRABP2, CRP, CTSK, CTSS, DPT, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ETV3, F5, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FDPS, FLG, FMO1, FMO2, FMO3, FMO4, ACKR1, GBA, HDGF, HSPA6, HSPA7, IFI16, IL6R, ILF2, INSRR, IVL, KCNJ9, KCNJ10, KCNN3, LMNA, LMX1A, LOR, LY9, MCL1, SMCP, MEF2D, MGST3, MNDA, MPZ, MTX1, MUC1, MYOC, NDUFS2, NHLH1, NIT1, NPR1, NTRK1, DDR2, PBX1, PFDN2, PIGC, PI4KB, PKLR, PRRX1, POU2F1, PPOX, PRCC, PSMB4, PSMD4, QSOX1, PEX19, RAB13, RFX5, RGS4, RIT1, RORC, RPS27, RXRG, S100A1, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A8, S100A9, S100A10, S100A11, S100A12, S100A13, XCL1, SDHC, SELE, SELL, SELP, SHC1, SLAMF1, SOAT1, UAP1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2C, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPTA1, SSR2, XCL2, VPS72, THBS3, TCHH, TNR, TPM3, CCT3, TUFT1, TNFSF4, UCK2, USF1, DAP3, NPHS2, HIST2H2AC, HIST2H2BE, PIP5K1A, TAGLN2, ANXA9, RGS5, BLZF1, VAMP4, PEA15, B4GALT3, ADAM15, CREG1, CD84, SELENBP1, TNFSF18, MPZL1, SH2D2A, ANGPTL1, TBX19, FCGR2C, PRPF3, ARHGEF2, DEDD, GPR52, AIM2, RASAL2, ADAMTS4, PRDX6, SLC25A44, , NOS1AP, ARHGEF11, CEP350, SETDB1, UBAP2L, SV2A, DENND4B, RABGAP1L, FAM20B, NR1I3, SCAMP3, GPA33, SF3B4, HAX1, C1orf61, SEMA6C, SLC19A2, PMVK, FAM189B, NES, JTB, MTMR11, MLLT11, SLC27A3, TDRKH, CELF3, PMF1, DUSP12, VPS45, , KIFAP3, ATF6, POGZ, SYT11, PRRC2C, RPRD2, SMG5, NCSTN, GPR161, SNAPIN, RUSC1, CA14, CFAP45, MPC2, OLFML2B, C1orf43, DNM3, TOR1AIP1, CHTOP, LCE2B, OR10J1, SNORD81, SNORD79, SNORD80, SNORD47, SNORD44, USP21, CACYBP, SLC39A1, KLHL20, LAMTOR2, TMOD4, NME7, CERS2, CRNN, DCAF8, F11R, BOLA1, ZBTB7B, RRNAD1, APH1A, PLEKHO1, SUCO, HSD17B7, UFC1, METTL13, OAZ3, CD244, DPM3, MRPS21, TMCO1, ADAMTSL4, CRCT1, GON4L, GPATCH4, DUSP23, C1orf56, RALGPS2, MSTO1, DARS2, GOLPH3L, KIRREL, YY1AP1, UBE2Q1, ITLN1, C1orf112, FAM63A, ADCY10, DCAF6, ASH1L, LENEP, SLC50A1, SLAMF8, CDC42SE1, UBQLN4, OTUD7B, RAB25, PGLYRP4, RHBG, SCYL3, ATP8B2, VANGL2, PBXIP1, S100A14, GATAD2B, CGN, IGSF9, ZNF687, POGK, HCN3, BRINP2, CCDC181, SLAMF7, CADM3, PRUNE, HAPLN2, GAS5, PAPPA2, BCAN, TNN, MRPS14, SEMA4A, TOR3A, RFWD2, MRPL9, INTS3, SCNM1, LINC00626, FCRL2, MRPL24, TNFAIP8L2, C1orf54, PAQR6, TRIM46, MROH9, TARS2, FLAD1, OR6N2, OR6K2, PVRL4, SNX27, ANP32E, ISG20L2, FCRL5, FCRL4, NUF2, TEX35, HORMAD1, TOMM40L, TMEM79, ZBTB37, LCE3D, FCRLA, MAEL, SEC16B, AQP10, LHX4, SLAMF9, PYGO2, NUP210L, CENPL, DUSP27, RCSD1, MEX3A, METTL18, GORAB, C1orf105, PIGM, IGSF8, GLMP, PGLYRP3, SLAMF6, FCRL1, FCRL3, TADA1, THEM4, SH2D1B, GABPB2, TCHHL1, RPTN, TDRD10, SHE, KLHDC9, AXDND1, OR10J5, DCST2, UHMK1, FCRLB, TSACC, IQGAP3, APOA1BP, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, OR6N1, S100A16, ITLN2, CREB3L4, CIART, FAM163A, LELP1, RC3H1, DCST1, METTL11B, FAM78B, BNIPL, LRRC71, PYHIN1, TDRD5, TOR1AIP2, SPRR4, TTC24, LCE4A, FLJ23867, KRTCAP2, CRTC2, LCE5A, ARHGAP30, CFAP126, TIPRL, RIIAD1, THEM5, SLC9C2, RUSC1-AS1, C1orf204, C1orf111, LINC01142, HIST2H2AB, S100A7A, LINGO4, FLG-AS1, RXFP4, ANKRD45, C1orf110, OR10R2, FCRL6, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3E, PEAR1, SFT2D2, ILDR2, LYSMD1, HRNR, FLG2, LINC00302, C1orf189, VHLL, OR10K2, OR10K1, OR6Y1, OR6K3, VSIG8, C1orf226, LOC400794, LINC00083, C1orf220, MIR199A2, MIR214, MIR9-1, ETV3L, LRRC52, OR10J3, KPRP, LCE6A, HIST2H4B, ADAMTSL4-AS1, PRR9, MIR488, SNORD74, ASH1L-AS1, S100A7L2, LOC646268, PCP4L1, SCARNA3, SCARNA4, SNORA80E, SNORD75, SNORD76, SNORD77, SNORD78, MIR554, MIR555, MIR556, MIR557, MIR92B, LOC729867, LOC730159, MIR765, MIR190B, MIR921, C1orf68, LOC100131107, TSTD1, CADM3-AS1, LOC100132111, LOC100147773, TRG-TCC4-1, TRL-CAA6-1, TRL-CAG1-2, TRG-TCC2-6, TRX-CAT1-1, TRE-CTC1-5, TRL-CAG1-6, TRP-AGG2-1, TRG-TCC2-5, TRE-CTC1-2, TRD-GTC2-5, TRN-GTT1-1, TRD-GTC2-4, TRL-CAG1-5, TRG-TCC2-3, TRG-GCC1-4, TRR-TCT4-1, TRG-TCC2-4, TRP-CGG1-1, TRG-GCC1-3, TRD-GTC2-2, TRG-GCC1-2, TRE-CTC1-4, TRG-TCC2-2, TRG-GCC4-1, TRD-GTC2-3, TRL-CAG1-3, TRL-CAG1-4, TRG-GCC1-1, TRV-CAC1-1, TRG-GCC2-1, TRE-CTC1-3, TRL-CAG1-1, TRN-GTT2-2, TRE-TTC4-2, TRD-GTC2-1, C2CD4D, MIR1295A, RASAL2-AS1, MIR1255B2, MIR3119-1, MIR4259, MIR3120, MIR4257, MIR3119-2, MIR4258, MIR3658, LINC01133, LOC100505666, KIRREL-IT1, LOC100505795, LOC100505918, LOC100506023, GAS5-AS1, PMF1-BGLAP, TNFAIP8L2-SCNM1, MIR4424, MIR4654, DNM3OS, MIR1295B, MIR5698, MIR5187, FALEC, UBE2Q1-AS1, DNM3-IT1, GBAT2, LINC01527, LOC101928009, LOC101928034, LOC101928372, LOC101928404, LINC01363, LOC101928565, LOC101928650, LOC101928673, LOC101928696, LOC101928751, LOC101928778, LINC00970, MIR6737, MIR6738, MIR6878, MIR8083, LOC102724601, LOC102724661
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
88.
GRCh37:
Chr1:160029416-160187302
GRCh38:
Chr1:160059626-160217512
ATP1A2, ATP1A4, CASQ1, KCNJ9, KCNJ10, PEA15, DCAF8, IGSF8, LOC729867See casesBenign
(Jan 30, 2010)
no assertion criteria provided
89.
GRCh37:
Chr1:160029416-160105986
GRCh38:
Chr1:160059626-160136196
ATP1A2, KCNJ9, KCNJ10, IGSF8See casesBenign
(Oct 1, 2010)
no assertion criteria provided
90.
GRCh37:
Chr1:160029416-160105986
GRCh38:
Chr1:160059626-160136196
ATP1A2, KCNJ9, KCNJ10, IGSF8See casesBenign
(Oct 1, 2010)
no assertion criteria provided
91.
GRCh37:
Chr1:157717036-175990383
GRCh38:
Chr1:157747246-176021247
ALDH9A1, APCS, APOA2, FASLG, SERPINC1, ATP1A2, ATP1A4, ATP1B1, CASQ1, CD1A, CD1B, CD1C, CD1D, CD1E, CD247, CD5L, CD48, COPA, CRP, DPT, F5, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FMO1, FMO2, FMO3, FMO4, ACKR1, HSPA6, HSPA7, IFI16, KCNJ9, KCNJ10, LMX1A, LY9, MGST3, MNDA, MPZ, MYOC, NDUFS2, NHLH1, NIT1, DDR2, PBX1, PFDN2, PIGC, PRRX1, POU2F1, PPOX, PEX19, RGS4, RXRG, XCL1, SDHC, SELE, SELL, SELP, SLAMF1, UAP1, SPTA1, XCL2, TNR, TNFSF4, UCK2, USF1, TAGLN2, RGS5, BLZF1, VAMP4, PEA15, B4GALT3, CREG1, CD84, TNFSF18, MPZL1, TBX19, FCGR2C, DEDD, GPR52, AIM2, ADAMTS4, PRDX6, , NOS1AP, RABGAP1L, NR1I3, GPA33, SLC19A2, DUSP12, KIFAP3, ATF6, PRRC2C, NCSTN, GPR161, CFAP45, MPC2, OLFML2B, DNM3, OR10J1, SNORD81, SNORD79, SNORD80, SNORD47, SNORD44, USP21, CACYBP, KLHL20, NME7, DCAF8, F11R, SUCO, HSD17B7, UFC1, METTL13, CD244, TMCO1, DUSP23, DARS2, KIRREL, ITLN1, C1orf112, ADCY10, DCAF6, SLAMF8, SCYL3, VANGL2, IGSF9, POGK, CCDC181, SLAMF7, CADM3, GAS5, TNN, MRPS14, RFWD2, LINC00626, FCRL2, MROH9, OR6N2, OR6K2, PVRL4, NUF2, TOMM40L, ZBTB37, FCRLA, MAEL, SLAMF9, CENPL, DUSP27, RCSD1, METTL18, GORAB, C1orf105, PIGM, IGSF8, SLAMF6, FCRL1, TADA1, SH2D1B, KLHDC9, OR10J5, UHMK1, FCRLB, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, OR6N1, ITLN2, RC3H1, METTL11B, FAM78B, PYHIN1, ARHGAP30, CFAP126, TIPRL, SLC9C2, C1orf204, C1orf111, LINC01142, ANKRD45, C1orf110, OR10R2, FCRL6, SFT2D2, ILDR2, OR10K2, OR10K1, OR6Y1, OR6K3, VSIG8, C1orf226, LOC400794, MIR199A2, MIR214, LRRC52, OR10J3, SNORD74, LOC646268, PCP4L1, SCARNA3, SNORD75, SNORD76, SNORD77, SNORD78, MIR556, MIR557, LOC729867, LOC730159, MIR921, TSTD1, CADM3-AS1, LOC100147773, TRG-TCC4-1, TRL-CAA6-1, TRL-CAG1-2, TRG-TCC2-6, TRE-CTC1-5, TRL-CAG1-6, TRP-AGG2-1, TRG-TCC2-5, TRE-CTC1-2, TRD-GTC2-5, TRN-GTT1-1, TRD-GTC2-4, TRL-CAG1-5, TRG-TCC2-3, TRG-GCC1-4, TRR-TCT4-1, TRG-TCC2-4, TRP-CGG1-1, TRG-GCC1-3, TRD-GTC2-2, TRG-GCC1-2, TRE-CTC1-4, TRG-TCC2-2, TRG-GCC4-1, TRD-GTC2-3, TRL-CAG1-3, TRL-CAG1-4, TRG-GCC1-1, TRV-CAC1-1, TRG-GCC2-1, TRE-CTC1-3, TRL-CAG1-1, TRN-GTT2-2, TRE-TTC4-2, TRD-GTC2-1, MIR1295A, MIR1255B2, MIR3119-1, MIR4259, MIR3120, MIR3119-2, MIR3658, LINC01133, KIRREL-IT1, LOC100505795, LOC100505918, LOC100506023, GAS5-AS1, MIR4654, DNM3OS, MIR1295B, MIR5187, DNM3-IT1, LOC101928372, LOC101928404, LINC01363, LOC101928565, LOC101928650, LOC101928673, LOC101928696, LOC101928751, LINC00970, LOC102724601
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
92.
GRCh37:
Chr1:156634275-160697201
GRCh38:
Chr1:156664483-160727411
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
93.
GRCh37:
Chr1:159449677-166864323
GRCh38:
Chr1:159479887-166895086
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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