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Results: 31

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
ARFGEF2Heterotopia, periventricular, autosomal recessivePathogenic
(Dec 5, 2013)
no assertion criteria provided
2.
GRCh37:
Chr20:47570141
ARFGEF2not providedLikely pathogeniccriteria provided, single submitter
3.
GRCh37:
Chr20:47538505
GRCh38:
Chr20:48921968
ARFGEF2not providedUncertain significance
(Mar 13, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr20:47558417
GRCh38:
Chr20:48941880
ARFGEF2not specifiedGO-ESP:0.00769(T)
GMAF:0.00340(T)
Likely benignno assertion criteria provided
5.
GRCh37:
Chr20:47568009
GRCh38:
Chr20:48951472
ARFGEF2not specified, not providedGO-ESP:0.00077(G)
GMAF:0.00620(G)
Benign
(May 23, 2014)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr20:47569226
GRCh38:
Chr20:48952689
ARFGEF2not providedGMAF:0.05390(T)Benign
(Oct 30, 2013)
criteria provided, single submitter
7.
GRCh37:
Chr20:47570114
GRCh38:
Chr20:48953577
ARFGEF2Heterotopia, periventricular, autosomal recessiveGMAF:0.00420(A)Pathogenic
(Dec 5, 2013)
no assertion criteria provided
8.
GRCh37:
Chr20:47570145
GRCh38:
Chr20:48953608
ARFGEF2Seizures, Hydrocephalus, Global developmental delay
Likely pathogenic
(Dec 1, 2014)
no assertion criteria provided
9.
GRCh37:
Chr20:47570245
GRCh38:
Chr20:48953708
ARFGEF2not providedGMAF:0.00080(T)Uncertain significance
(Mar 17, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr20:47570296
GRCh38:
Chr20:48953759
ARFGEF2not specified, not providedGO-ESP:0.00308(T)
GMAF:0.00160(T)
Conflicting interpretations of pathogenicity
(Nov 22, 2014)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr20:47570300
GRCh38:
Chr20:48953763
ARFGEF2not providedGO-ESP:0.00177(G)
GMAF:0.00060(G)
Uncertain significance
(Sep 27, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr20:47580444
GRCh38:
Chr20:48963907
ARFGEF2not providedGMAF:0.00020(T)Uncertain significance
(Aug 10, 2012)
criteria provided, single submitter
13.
GRCh37:
Chr20:47587699
GRCh38:
Chr20:48971162
ARFGEF2not providedGO-ESP:0.00015(T)
GMAF:0.00060(T)
Uncertain significance
(Mar 19, 2014)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr20:47587741
GRCh38:
Chr20:48971204
ARFGEF2not specifiedGMAF:0.00480(T)Likely benign
(Aug 5, 2013)
criteria provided, single submitter
15.
GRCh37:
Chr20:47587864
GRCh38:
Chr20:48971327
ARFGEF2not specifiedGO-ESP:0.00077(C)
GMAF:0.00140(C)
Benign
(Mar 3, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr20:47589800
GRCh38:
Chr20:48973263
ARFGEF2not specifiedGO-ESP:0.00085(A)
GMAF:0.00040(A)
Likely benign
(Nov 13, 2013)
criteria provided, single submitter
17.
GRCh37:
Chr20:47592737
GRCh38:
Chr20:48976200
ARFGEF2Heterotopia, periventricular, autosomal recessivePathogenic
(Dec 5, 2013)
no assertion criteria provided
18.
GRCh37:
Chr20:47605927
GRCh38:
Chr20:48989390
ARFGEF2not providedGMAF:0.00080(T)Uncertain significance
(Jul 16, 2012)
criteria provided, single submitter
19.
GRCh37:
Chr20:47606084
GRCh38:
Chr20:48989547
ARFGEF2not specifiedGO-ESP:0.00115(T)
GMAF:0.00020(T)
Likely benignno assertion criteria provided
20.
GRCh37:
Chr20:47607570
GRCh38:
Chr20:48991033
ARFGEF2not providedGMAF:0.00060(A)Uncertain significance
(Nov 29, 2012)
criteria provided, single submitter
21.
GRCh37:
Chr20:47612375
GRCh38:
Chr20:48995838
ARFGEF2not specified, not providedGO-ESP:0.00815(A)
GMAF:0.00620(A)
Benign/Likely benign
(Jan 30, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr20:47626808
GRCh38:
Chr20:49010271
ARFGEF2not providedUncertain significance
(Jan 20, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr20:47626847
GRCh38:
Chr20:49010310
ARFGEF2not specified, not providedGO-ESP:0.40389(C)
GMAF:0.35420(C)
Benign/Likely benign
(Oct 30, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr20:47630449
GRCh38:
Chr20:49013912
ARFGEF2not specifiedGO-ESP:0.11302(T)
GMAF:0.20850(T)
Likely benignno assertion criteria provided
25.
GRCh37:
Chr20:47630454
GRCh38:
Chr20:49013917
ARFGEF2not providedUncertain significance
(Mar 19, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr20:47634040
GRCh38:
Chr20:49017503
ARFGEF2not providedGO-ESP:0.00085(T)Uncertain significance
(Mar 24, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr20:47645081
GRCh38:
Chr20:49028544
ARFGEF2not providedUncertain significance
(Oct 30, 2013)
criteria provided, single submitter
28.
GRCh37:
Chr20:47645165
GRCh38:
Chr20:49028628
ARFGEF2not providedUncertain significance
(Jul 5, 2013)
criteria provided, single submitter
29.
GRCh37:
Chr20:47373123-48148892
GRCh38:
Chr20:48756586-49532355
See casesUncertain significance
(Sep 21, 2012)
no assertion criteria provided
30.
GRCh37:
Chr20:80198-62908674
GRCh38:
Chr20:99557-64277321
ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, WISP2, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SNORD12C, RNU105B, SNORA71B, SNORA71A, SNORD57, SNORD56, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, LINC00652, NXT1, VSX1, STMN3, SLC35C2, SLMO2, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTFDC1, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, C20orf24, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK7, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, CSRP2BP, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, LOC63930, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, LINC01260, C20orf195, NDUFAF5, PPDPF, LOC79160, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, C20orf57, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, , SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, LINC00261, ZSWIM3, WFDC10A, C20orf62, BANF2, NANP, FAM83C-AS1, MACROD2-IT1, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, LINC00028, FAM65C, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, LOC149684, ADIG, GTSF1L, WFDC5, APCDD1L-AS1, GNAS-AS1, PRNT, LINC00654, C20orf196, LOC149950, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, LINC00656, DEFB115, DEFB116, DEFB119, DEFB121, DEFB122, DEFB123, DEFB124, DEFB128, C20orf166-AS1, WFDC11, WFDC9, WFDC10B, LINC00176, LINC00494, LINC01270, C20orf197, MIR646HG, SIRPB2, LOC284788, LOC284798, FAM182A, MIR663AHG, C20orf203, BPIFA4P, LOC339568, LOC339593, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, LOC388780, LINC00493, EFCAB8, SNHG17, FAM209B, SPINT4, DEFB132, C20orf202, FLJ33581, LINC01597, MIR103A2, MIR1-1, MIR124-3, MIR133A2, MIR296, LINC00851, ZFAS1, GDF5OS, MIR499A, LOC613266, RAD21L1, LOC643406, NKX2-4, LINC00657, SNORA71E, SNORA51, SNORA60, SNORA71C, SNORA71D, SNORD12, SNORD17, SNORD86, SNORD110, MIR644A, MIR645, MIR646, MIR647, MIR663A, LINC01433, C20orf187, LINC00687, FAM182B, LOC729296, SYS1-DBNDD2, HAR1A, HAR1B, SNORD119, UCKL1-AS1, SNORD12B, MIR298, MIR941-1, MIR941-4, MIR941-2, MIR941-3, SLCO4A1-AS1, LOC100128028, C20orf78, C20orf181, LOC100130264, LOC100130587, , SNAP25-AS1, LOC100131496, DPH3P1, UBOX5-AS1, LOC100134868, LINC00029, LINC01056, FLJ16779, LINC01432, LOC100270804, LOC100287792, TMEM239, LOC100289097, MIR1289-1, MIR1914, MIR1292, MIR1302-5, MIR1257, MIR1825, MIR103B2, PCNA-AS1, PET117, MACROD2-AS1, MIR3195, MIR3192, MIR4325, MIR3194, MIR3193, MIR4326, MIR3196, MTRNR2L3, MIR3646, MIR3616, MIR3617, LOC100505515, ISM1-AS1, LINC01370, LINC01431, OSER1-AS1, STK4-AS1, LINC01272, LOC100506175, LOC100506384, LOC100506470, NRSN2-AS1, SDCBP2-AS1, LINC00658, EPPIN-WFDC6, TGIF2-C20orf24, FKBP1A-SDCBP2, RTEL1-TNFRSF6B, SLMO2-ATP5E, STX16-NPEPL1, MIR499B, MIR548O2, MIR4756, MIR4758, MIR4532, MIR4533, MIR4755, MIR548AG2, LINC00659, LINC00489, HM13-AS1, TRERNA1, LINC01523, OGFR-AS1, MMP24-AS1, RALY-AS1, LOC101926889, LOC101926935, LOC101926955, DLGAP4-AS1, PLCG1-AS1, LOC101927159, HNF4A-AS1, LINC01430, LINC01522, LINC01273, CEBPB-AS1, LINC01271, ADNP-AS1, LINC01429, LINC01524, LOC101927770, LINC01441, LOC101927932, LOC101928048, LAMA5-AS1, ZBTB46-AS1, SIRPG-AS1, LOC101929125, LOC101929207, MCM8-AS1, CASC20, LINC01428, LOC101929312, LAMP5-AS1, LOC101929371, LOC101929395, LOC101929413, LOC101929486, LOC101929526, KIZ-AS1, LOC101929608, LOC101929625, LINC01427, LINC01384, LOC101929698, ZNF341-AS1, MIR6812, MIR6869, MIR6870, MIR8062, MIR6813, MIR6871, LOC102606466, CSE1L-AS1, LINC01440, BMP7-AS1, ZNF337-AS1, MIR941-5
See casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
31.
GRCh37:
Chr20:43416345-62908674
GRCh38:
Chr20:44787704-64277321
ATP5E, BMP7, CD40, CDH4, CEBPB, CHRNA4, COL9A3, CSE1L, CSTF1, CTSZ, CYP24A1, EDN3, EEF1A2, EYA2, GNAS, NPBWR2, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, MC3R, MMP9, MYT1, NFATC2, NTSR1, OPRL1, PCK1, PFDN4, PI3, PLTP, CTSA, PPP1R3D, PSMA7, PTGIS, PTK6, PTPN1, RPS21, SDC4, SEMG1, SEMG2, SLPI, SNAI1, SRMS, STAU1, STK4, AURKA, TAF4, TCEA2, TFAP2C, TNNC2, TPD52L2, UBE2V1, YWHAB, ZNF217, NCOA3, RAE1, BCAS1, STX16, TNFRSF6B, MATN4, DPM1, VAPB, B4GALT5, SPATA2, OSBPL2, ACOT8, ATP9A, ARFRP1, RGS19, SYCP2, WFDC2, ARFGEF2, TCFL5, SPINT3, TOMM34, ADRM1, OGFR, UBE2C, DIDO1, HRH3, RBPJL, SLC9A8, ADNP, ZMYND8, SPO11, PRPF6, SS18L1, MTG2, GMEB2, SNORD12C, TP53TG5, MOCS3, SLCO4A1, STMN3, SLC35C2, SLMO2, NELFCD, RTFDC1, PIGT, RTEL1, SOX18, YTHDF1, LIME1, UCKL1, GID8, PCMTD2, MRGBP, RBM38, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, DOK5, DBNDD2, RNF114, SULF2, SLC2A4RG, PMEPA1, CASS4, EPPIN, SALL4, ZNFX1, RAB22A, SLC12A5, ZNF512B, PREX1, COL20A1, NCOA5, CDH26, SLC17A9, ELMO2, ZNF335, LOC63930, PCIF1, FAM217B, CDH22, SLC13A3, C20orf195, PPDPF, LOC79160, BIRC7, NPEPL1, DNAJC5, PABPC1L, TUBB1, ZBP1, SLC2A10, CABLES2, PARD6B, ZGPAT, HELZ2, SYS1, WFDC8, SNX21, ZSWIM1, TP53RK, DNTTIP1, FAM210B, PHACTR3, BHLHE23, NKAIN4, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, MIR1-1HG, GATA5, ZBTB46, WFDC3, GCNT7, CBLN4, CTCFL, SAMD10, ABHD16B, RIMS4, ANKRD60, NEURL2, ZSWIM3, WFDC10A, WFDC6, FAM65C, RBBP8NL, WFDC5, APCDD1L-AS1, GNAS-AS1, LSM14B, WFDC13, APCDD1L, LKAAEAR1, FAM209A, C20orf166-AS1, WFDC11, WFDC9, WFDC10B, LINC00176, LINC00494, LINC01270, C20orf197, MIR646HG, TMEM189, TMEM189-UBE2V1, FAM209B, SPINT4, MIR1-1, MIR124-3, MIR133A2, MIR296, ZFAS1, SNORD12, MIR645, MIR646, MIR647, LOC729296, SYS1-DBNDD2, HAR1A, HAR1B, UCKL1-AS1, SNORD12B, MIR298, MIR941-1, MIR941-4, MIR941-2, MIR941-3, SLCO4A1-AS1, LOC100128028, C20orf181, LOC100130587, , LOC100131496, DPH3P1, LINC00029, LINC01056, FLJ16779, MIR1914, MIR1302-5, MIR1257, MIR3195, MIR4325, MIR3194, MIR4326, MIR3196, MTRNR2L3, MIR3616, MIR3617, STK4-AS1, LINC01272, LOC100506175, LOC100506384, LOC100506470, EPPIN-WFDC6, RTEL1-TNFRSF6B, SLMO2-ATP5E, STX16-NPEPL1, MIR4756, MIR4758, MIR4532, MIR4533, MIR548AG2, LINC00659, TRERNA1, LINC01523, OGFR-AS1, LINC01522, LINC01273, CEBPB-AS1, LINC01271, ADNP-AS1, LINC01429, LINC01524, LOC101927770, LINC01441, LOC101927932, LOC101928048, LAMA5-AS1, ZBTB46-AS1, MIR6812, MIR6813, CSE1L-AS1, LINC01440, BMP7-AS1, MIR941-5
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts

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