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Results: 20

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
LMNB1Leukodystrophy, adult-onset, autosomal dominantPathogenic
(Feb 10, 2015)
no assertion criteria provided
2.
GRCh37:
Chr5:126140522
GRCh38:
Chr5:126804830
LMNB1not providedGO-ESP:0.05382(C)
GMAF:0.04330(C)
not providedno assertion provided
3.
GRCh37:
Chr5:126140540
GRCh38:
Chr5:126804848
LMNB1not specifiedGO-ESP:0.02730(A)
GMAF:0.02260(A)
Likely benignno assertion criteria provided
4.
GRCh37:
Chr5:126147503
GRCh38:
Chr5:126811811
LMNB1not providedGO-ESP:0.00423(C)
GMAF:0.00300(C)
not providedno assertion provided
5.
GRCh37:
Chr5:126161690
GRCh38:
Chr5:126825998
LMNB1not providedGO-ESP:0.01938(T)
GMAF:0.01000(T)
not providedno assertion provided
6.
GRCh37:
Chr5:126171974
GRCh38:
Chr5:126836282
LMNB1not providedGO-ESP:0.05598(T)
GMAF:0.04490(T)
not providedno assertion provided
7.
GRCh37:
Chr5:90707525-130655256
GRCh38:
Chr5:91411708-131319563
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
8.
GRCh37:
Chr5:89670423-127412115
GRCh38:
Chr5:90374606-128076423
See casesPathogenic
(Feb 25, 2013)
no assertion criteria provided
9.
GRCh37:
Chr5:126122436-126133000
GRCh38:
Chr5:126786744-126797308
LMNB1See casesLikely benign
(Sep 21, 2012)
no assertion criteria provided
10.
GRCh37:
Chr5:110023143-129439531
GRCh38:
Chr5:110687442-130103838
See casesUncertain significance
(Aug 20, 2012)
no assertion criteria provided
11.
GRCh37:
Chr5:124708550-126174706
GRCh38:
Chr5:125372857-126839014
ALDH7A1, LMNB1, PHAX, GRAMD3, TEX43, LOC101927460, LOC101927488, LOC102546228See casesLikely benign
(Dec 2, 2011)
no assertion criteria provided
12.
GRCh37:
Chr5:125993451-126259315
GRCh38:
Chr5:126657759-126923623
LMNB1, MARCH3See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
13.
GRCh37:
Chr5:121814963-126168860
GRCh38:
Chr5:122479268-126833168
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
14.
GRCh37:
Chr5:126122436-126137162
GRCh38:
Chr5:126786744-126801470
LMNB1See casesUncertain significance
(Oct 30, 2010)
no assertion criteria provided
15.
GRCh37:
Chr5:110798714-126528730
GRCh38:
Chr5:111463016-127193038
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
16.
GRCh37:
Chr5:116012818-132021855
GRCh38:
Chr5:116677122-132686163
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
17.
GRCh37:
Chr5:105955289-155551397
GRCh38:
Chr5:106619588-156124387
ADRB2, ANXA6, APC, ATOX1, ALDH7A1, CAMK4, CAMK2A, CAMLG, CD14, CD74, CDC25C, CDO1, CDX1, AP3S1, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, DMXL1, DIAPH1, DPYSL3, SLC26A2, HBEGF, EFNA5, EGR1, ETF1, FAT2, FBN2, FER, FGF1, GDF9, GFRA3, GLRA1, GM2A, GPX3, GRIA1, NR3C1, HARS, HINT1, HSD17B4, HSPA4, HSPA9, NDST1, HTR4, IK, IL3, IL4, IL5, IL9, IL13, IRF1, KCNN2, LECT2, LMNB1, LOX, SMAD5, MAN2A1, MCC, MFAP3, NDUFA2, NEUROG1, NPY6R, PCDH1, PCDHGC3, PDE6A, PDGFRB, PFDN1, PGGT1B, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PURA, RPS14, RPS20P3, RPS20P4, SGCD, SKP1, SLC6A7, SLC12A2, SLC22A4, SLC22A5, SNX2, SPARC, SPINK1, SPOCK1, SRP19, TAF7, TCF7, TCOF1, TGFBI, ZRSR1, UBE2B, UBE2D2, VDAC1, WNT8A, REEP5, NME5, PDLIM4, EIF4EBP3, PCDHGB4, CDC23, HDAC3, P4HA2, ATG12, NREP, CNOT8, HAND1, MYOT, NRG2, CXCL14, H2AFY, SMAD5-AS1, RNF14, SNCAIP, PCDHGA8, PCDHA9, MATR3, , JAKMIP2, PJA2, DDX46, SLC23A1, GNPDA1, SRA1, RAD50, KIF20A, G3BP1, APBB3, TNIP1, SEC24A, FAXDC2, FAM114A2, BRD8, TCERG1, HNRNPA0, SPINK5, KIF3A, SYNPO, ABLIM3, HMGXB3, ARHGAP26, FSTL4, SEPT8, ACSL6, JADE2, LARP1, HARS2, TNFAIP8, GEMIN5, PCDHGA12, LRRTM2, CCDC69, PCDHB5, FBXL21, KLHL3, SNORD63, SNORA74A, PKD2L2, UQCRQ, AFF4, IL17B, SLC27A6, SNX24, MRPL22, PCDHB1, TMED7, ISOC1, SAR1B, DCTN4, MZB1, PAIP2, CDKL3, PCDH12, FAM13B, FAM53C, REEP2, PRR16, COMMD10, LARS, CXXC5, RAPGEF6, KDM3B, PHAX, RBM27, EPB41L4A-AS2, ZCCHC10, WDR55, ANKHD1, TMCO6, TRIM36, GALNT10, RBM22, PCDHGC5, PCDHGC4, PCDHGB7, PCDHGB6, PCDHGB5, PCDHGB3, PCDHGB2, PCDHGB1, PCDHGA11, PCDHGA10, PCDHGA9, PCDHGA7, PCDHGA6, PCDHGA5, PCDHGA4, PCDHGA3, PCDHGA2, PCDHGA1, PCDHG@, PCDHB@, PCDHA@, PCDHACT, PCDHB15, PCDHB14, PCDHB13, PCDHB12, PCDHB11, PCDHB10, PCDHB9, PCDHB8, PCDHB7, PCDHB6, PCDHB4, PCDHB3, PCDHB2, PCDHAC2, PCDHAC1, PCDHA13, PCDHA12, PCDHA11, PCDHA10, PCDHA8, PCDHA7, PCDHA6, PCDHA5, PCDHA4, PCDHA3, PCDHA2, PCDHA1, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, CDC42SE2, TRPC7, ZNF608, KCTD16, SEMA6A, PCDHB16, HMHB1, EPB41L4A, SIL1, ARAP3, FBXL17, YTHDC2, GRAMD3, PCYOX1L, SH3TC2, SAP30L, TXNDC15, NDFIP1, FBXO38, YIPF5, TIGD6, SPRY4, SLC4A9, SLC25A2, TSSK1B, PCBD2, PSD2, CYSTM1, MEGF10, SPINK7, SMIM3, TSLP, FCHSD1, LYRM7, SLC25A46, CDKN2AIPNL, ZNF300, MYOZ3, PRDM6, FTMT, FNIP1, SLC35A4, EPB41L4A-AS1, MARCH3, LEAP2, SCGB3A2, PPARGC1B, PRRC1, ZNF474, AFAP1L1, GRPEL2, GPR151, STARD4, WDR36, SOWAHA, SHROOM1, C5orf24, DCANP1, MGC32805, SLC36A2, SPINK13, CEP120, SLC25A48, SRFBP1, JAKMIP2-AS1, ZMAT2, CCDC112, PRELID2, SH3RF2, PLAC8L1, DCP2, ADAMTS19, SPATA24, DNAJC18, STK32A, LVRN, SLC36A1, LOC255187, DTWD2, RELL2, SLC36A3, KIF4B, CHSY3, TMEM173, FAM170A, C5orf66-AS2, LOC340074, ARSI, IRGM, CATSPER3, TICAM2, DND1, SAP30L-AS1, TEX43, LOC389332, PROB1, C5orf46, ARHGEF37, C5orf63, SPINK6, ANKHD1-EIF4EBP3, MIR143, MIR145, SPINK14, C5orf56, IGIP, MIR378A, TIFAB, LOC553103, CTXN3, ECSCR, TMEM232, GRXCR2, SPINK9, ARL14EPL, LINC01184, CCNI2, SNORA13, MIR584, SNHG4, MIR143HG, LINC00992, LINC01183, MEIKIN, VTRNA2-1, MIR874, KIAA1024L, MIR1289-2, MIR548F3, MIR1294, MIR1303, TMED7-TICAM2, MIR1244-2, MIR3141, MIR3655, MIR3936, MIR3661, LINC01024, LOC100505658, STARD4-AS1, HNCAT21, LOC100505841, MIR4633, MIR4461, MIR378H, MIR4460, LOC100652758, LINC01023, MIR5197, MIR5692C1, MIR5706, P4HA2-AS1, NREP-AS1, ARHGAP26-AS1, PPP2R2B-IT1, ARHGAP26-IT1, C5orf66, LOC101926905, LOC101926941, LOC101926975, LOC101927023, LOC101927078, CTB-113P19.1, LOC101927100, CTB-12O2.1, LINC01470, LOC101927190, SEMA6A-AS1, HRAT56, LOC101927379, LOC101927421, LOC101927460, LOC101927488, TH2LCRR, LOC101927934, C5orf66-AS1, LOC101929696, LOC101929719, MIR6499, MIR6830, MIR6831, LOC102467213, LOC102467214, LOC102467216, LOC102467217, LOC102467223, LOC102467224, LOC102467225, LOC102467226, LOC102546228, LOC102546229, LOC102546294, LOC102546298, ADAMTS19-AS1, LINC01170
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
18.
GRCh37:
Chr5:125794639-127873679
GRCh38:
Chr5:126458947-128537986
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
19.
GRCh37:
Chr5:125774098-132209659
GRCh38:
Chr5:126438406-132873967
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
20.
GRCh37:
Chr5:120075325-126159676
GRCh38:
Chr5:120739630-126823984
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided

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