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Results: 39

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
2.
HNF4AMaturity-onset diabetes of the young, type 1Pathogenic
(Jul 16, 2013)
no assertion criteria provided
3.
HNF4AMaturity-onset diabetes of the young, type 1Pathogenic
(Jul 16, 2013)
no assertion criteria provided
4.
GRCh37:
Chr20:43034693
GRCh38:
Chr20:44406053
HNF4Anot specifiedGO-ESP:0.19045(T)
GMAF:0.16870(T)
Likely benignno assertion criteria provided
5.
GRCh37:
Chr20:43034732
GRCh38:
Chr20:44406092
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00108(A)Likely benign
(Aug 18, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr20:43034783
GRCh38:
Chr20:44406143
HNF4Anot specified, not providedGO-ESP:0.04306(T)
GMAF:0.01460(T)
Benign
(Mar 7, 2014)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr20:43034835
GRCh38:
Chr20:44406195
HNF4AFanconi renotubular syndrome 4 with maturity-onset diabetes of the youngPathogenic
(Sep 24, 2014)
no assertion criteria provided
8.
GRCh37:
Chr20:43036077-43036078
GRCh38:
Chr20:44407437-44407438
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr20:43042354
GRCh38:
Chr20:44413714
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00008(T)Pathogenic
(Jul 16, 2013)
no assertion criteria provided
10.
GRCh37:
Chr20:43042364
GRCh38:
Chr20:44413724
HNF4Anot specified, not providedGO-ESP:0.02376(T)
GMAF:0.02400(T)
Benign
(May 19, 2014)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr20:43042375
GRCh38:
Chr20:44413735
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
12.
GRCh37:
Chr20:43042395
GRCh38:
Chr20:44413755
HNF4AMaturity-onset diabetes of the young, type 1Likely benign
(Aug 18, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr20:43042407
GRCh38:
Chr20:44413767
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00661(C)
GMAF:0.01220(C)
Likely benign
(Aug 18, 2011)
criteria provided, single submitter
14.
GRCh37:
Chr20:43042435
GRCh38:
Chr20:44413795
HNF4AMaturity-onset diabetes of the young, type 1Pathogenic
(Aug 15, 2011)
no assertion criteria provided
15.
GRCh37:
Chr20:43042446
GRCh38:
Chr20:44413806
HNF4AMaturity-onset diabetes of the young, type 1GMAF:0.00080(A)Uncertain significance
(Aug 18, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr20:43043159
GRCh38:
Chr20:44414519
HNF4AMaturity-onset diabetes of the young, type 1, not providedGO-ESP:0.00015(A)
GMAF:0.00600(A)
Conflicting interpretations of pathogenicity
(Nov 4, 2013)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr20:43043273
GRCh38:
Chr20:44414633
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
18.
GRCh37:
Chr20:43043295-43043312
GRCh38:
Chr20:44414655-44414672
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
19.
GRCh37:
Chr20:43047142-43047144
GRCh38:
Chr20:44418502-44418504
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
20.
GRCh37:
Chr20:43047151
GRCh38:
Chr20:44418511
HNF4AMaturity-onset diabetes of the young, type 1, not providedGO-ESP:0.00492(G)
GMAF:0.00320(G)
Conflicting interpretations of pathogenicity
(Mar 7, 2014)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr20:43048386
GRCh38:
Chr20:44419746
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00469(T)
GMAF:0.00400(T)
Likely benign
(Aug 18, 2011)
criteria provided, single submitter
22.
GRCh37:
Chr20:43048434
GRCh38:
Chr20:44419794
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00208(T)
GMAF:0.00380(T)
Likely benign
(Aug 18, 2011)
criteria provided, single submitter
23.
GRCh37:
Chr20:43048453
GRCh38:
Chr20:44419813
HNF4AMaturity-onset diabetes of the young, type 1Pathogenic
(Aug 15, 2011)
no assertion criteria provided
24.
GRCh37:
Chr20:43048458
GRCh38:
Chr20:44419818
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
25.
GRCh37:
Chr20:43048546
GRCh38:
Chr20:44419906
HNF4AMaturity-onset diabetes of the young, type 1Uncertain significance
(Aug 18, 2011)
criteria provided, single submitter
26.
GRCh37:
Chr20:43052671
GRCh38:
Chr20:44424031
HNF4AMaturity-onset diabetes of the young, type 1GMAF:0.00020(A)Likely benign
(Aug 18, 2011)
criteria provided, single submitter
27.
GRCh37:
Chr20:43052755
GRCh38:
Chr20:44424115
HNF4AMaturity-onset diabetes of the young, type 1Likely benign
(Aug 18, 2011)
criteria provided, single submitter
28.
GRCh37:
Chr20:43052756
GRCh38:
Chr20:44424116
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
29.
GRCh37:
Chr20:43052762
GRCh38:
Chr20:44424122
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
30.
GRCh37:
Chr20:43052883
GRCh38:
Chr20:44424243
HNF4AMaturity-onset diabetes of the young, type 1Pathogenic
(Aug 15, 2011)
no assertion criteria provided
31.
GRCh37:
Chr20:43057008
GRCh38:
Chr20:44428368
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
32.
GRCh37:
Chr20:43057048
GRCh38:
Chr20:44428408
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00500(T)
GMAF:0.00200(T)
Benign
(Aug 18, 2011)
criteria provided, single submitter
33.
GRCh37:
Chr20:43057049
GRCh38:
Chr20:44428409
HNF4ADiabetes mellitus type 2Pathogenic
(Jul 16, 2013)
no assertion criteria provided
34.
GRCh37:
Chr20:43057098
GRCh38:
Chr20:44428458
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
35.
GRCh37:
Chr20:43058213
GRCh38:
Chr20:44429573
HNF4Anot providedGO-ESP:0.00008(T)Uncertain significance
(Jul 23, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr20:43058267
GRCh38:
Chr20:44429627
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00031(G)Uncertain significance
(Aug 18, 2011)
criteria provided, single submitter
37.
GRCh37:
Chr20:43058309
GRCh38:
Chr20:44429669
HNF4AMaturity-onset diabetes of the young, type 1Uncertain significance
(Aug 18, 2011)
criteria provided, single submitter
38.
GRCh37:
Chr20:33825749-46260562
GRCh38:
Chr20:35237946-47631818
See casesPathogenic
(Dec 17, 2012)
no assertion criteria provided
39.
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

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