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Items: 29

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:45921375-50787353
GRCh38:
Chr3:45879883-50749922
ALS2CL, AMIGO3, AMT, APEH, ARIH2, ARIH2OS, ATRIP, ATRIP-TREX1, BSN, BSN-DT, C3orf18, C3orf62, C3orf84, CACNA2D2, CAMKV, CAMP, CCDC12, CCDC51, CCDC71, CCR1, CCR2, CCR3, CCR5, CCR5AS, CCR9, CCRL2, CDC25A, CDHR4, CELSR3, CISH, COL7A1, CRIPTO, CSPG5, CXCR6, CYB561D2, DAG1, DALRD3, DHX30, DOCK3, ELP6, FAM240A, FBXW12, FYCO1, GMPPB, GNAI2, GNAT1, GPX1, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KIF9, KIF9-AS1, KLHDC8B, KLHL18, LAMB2, LINC02009, LINC02019, LINC02585, LOC101928965, LOC110121200, LOC111591507, LOC112935943, LOC112935944, LOC112935945, LOC112935946, LOC115995510, LOC119086083, LOC121009664, LOC121009665, LOC121009666, LOC121009667, LOC121009668, LOC121009669, LOC121009670, LOC121009671, LOC121725144, LOC122889078, LOC122889079, LOC122889080, LOC122889081, LOC122889082, LOC122889083, LOC122889084, LOC122889085, LOC122889086, LOC122889087, LOC122889088, LOC126806671, LOC126806672, LOC126806673, LOC126806674, LOC126806675, LOC126806676, LOC127898564, LOC129389065, LOC129389066, LOC129389067, LOC129389068, LOC129389069, LOC129389070, LOC129389071, LOC129389072, LOC129389073, LOC129389074, LOC129389075, LOC129389076, LOC129389077, LOC129936634, LOC129936635, LOC129936636, LOC129936637, LOC129936638, LOC129936639, LOC129936640, LOC129936641, LOC129936642, LOC129936643, LOC129936644, LOC129936645, LOC129936646, LOC129936647, LOC129936648, LOC129936649, LOC129936650, LOC129936651, LOC129936652, LOC129936653, LOC129936654, LOC129936655, LOC129936656, LOC129936657, LOC129936658, LOC129936659, LOC129936660, LOC129936661, LOC129936662, LOC129936663, LOC129936664, LOC129936665, LOC129936666, LOC129936667, LOC129936668, LOC129936669, LOC129936670, LOC129936671, LOC129936672, LOC129936673, LOC129936674, LOC129936675, LOC129936676, LOC129936677, LOC129936678, LOC129936679, LOC129936680, LOC129936681, LOC129936682, LOC129936683, LOC129936684, LOC129936685, LOC129936686, LOC129936687, LOC129936688, LOC129936689, LOC129936690, LOC129936691, LOC129936692, LOC129936693, LOC129936694, LOC129936695, LOC129936696, LOC129936697, LOC129936698, LOC129936699, LOC129936700, LOC129936701, LOC129936702, LOC129936703, LOC129936704, LOC129936705, LOC129936706, LOC129936707, LOC129936708, LOC129936709, LOC129936710, LOC129936711, LOC129936712, LOC129936713, LOC129936714, LOC129936715, LOC129936716, LOC129936717, LOC129936718, LOC129936719, LOC129936720, LOC129936721, LOC129936722, LOC129936723, LOC129936724, LOC129936725, LOC129936726, LOC129936727, LOC129936728, LOC129936729, LOC129936730, LOC129936731, LOC129936732, LOC129936733, LOC129936734, LOC129936735, LOC129936736, LOC129936737, LOC129936738, LOC129936739, LOC129936740, LOC129936741, LOC129936742, LOC129936743, LOC129936744, LOC129936745, LOC129936746, LOC129936747, LOC129936748, LOC129936749, LOC129936750, LOC129936751, LOC129936752, LOC129936753, LOC129936754, LOC129936755, LOC129936756, LOC129936757, LOC129936758, LOC129936759, LOC129936760, LOC129936761, LOC129936762, LOC129936763, LOC129936764, LOC129936765, LOC129936766, LOC129936767, LOC129936768, LOC129936769, LOC129936770, LOC129936771, LOC129936772, LOC129936773, LOC129936774, LOC129936775, LOC129936776, LOC129936777, LOC129936778, LOC129936779, LOC129936780, LOC129936781, LOC129936782, LOC129936783, LOC129936784, LOC129936785, LOC129936786, LOC129936787, LOC129936788, LOC129936789, LOC129936790, LOC129936791, LOC129936792, LOC129936793, LOC129936794, LOC129936795, LOC129936796, LOC129936797, LOC129936798, LOC129936799, LOC129936800, LOC129936801, LOC129936802, LOC129936803, LOC129936804, LOC129936805, LOC129936806, LOC129936807, LOC129936808, LOC129936809, LOC129936810, LOC129936811, LOC132088966, LOC132088967, LOC132088968, LOC132088969, LOC132088970, LRRC2, LRRC2-AS1, LSMEM2, LTF, LZTFL1, MAP4, MAPKAPK3, MIR1226, MIR191, MIR2115, MIR425, MIR4271, MIR4443, MIR4787, MIR4793, MIR5193, MIR5787, MIR6823, MIR6824, MIR6872, MIR6890, MIR711, MON1A, MST1, MST1R, MYL3, NAA80, NBEAL2, NCKIPSD, NDUFAF3, NICN1, NME6, NPRL2, P4HTM, PFKFB4, PLXNB1, PRKAR2A, PRKAR2A-AS1, PRSS50, PTH1R, PTPN23, PTPN23-DT, QARS1, QRICH1, RASSF1, RASSF1-AS1, RBM5, RBM5-AS1, RBM6, RHOA, RNF123, RTP3, SCAP, SEMA3B, SEMA3B-AS1, SEMA3F, SEMA3F-AS1, SETD2, SHISA5, SLC25A20, SLC26A6, SLC38A3, SMARCC1, SNORA94, SNORD13J, SNORD146, SPINK8, TCTA, TMA7, TMEM115, TMEM89, TMIE, TRAIP, TREX1, TUSC2, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6, XCR1, ZMYND10, ZNF589
See casesPathogenic
(Sep 23, 2013)
no assertion criteria provided
2.
GRCh37:
Chr3:49208814-49512068
GRCh38:
Chr3:49171381-49474635
See casesUncertain significance
(Sep 27, 2013)
no assertion criteria provided
3.
GRCh37:
Chr3:49405927
GRCh38:
Chr3:49368494
RHOAP71S, P51SEctodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesPathogenic
(Jan 29, 2020)
no assertion criteria provided
4.
GRCh37:
Chr3:49405930
GRCh38:
Chr3:49368497
RHOAR50G, R70GEctodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesLikely pathogeniccriteria provided, single submitter
5.
GRCh37:
Chr3:49405935
GRCh38:
Chr3:49368502
RHOAR48H, R68Hnot providedUncertain significance
(Jul 31, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr3:49405942
GRCh38:
Chr3:49368509
RHOAY66H, Y46HInborn genetic diseasesUncertain significance
(Oct 6, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr3:49405957
GRCh38:
Chr3:49368524
RHOAA61Tnot providedUncertain significance
(Jun 26, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:49412884
GRCh38:
Chr3:49375451
RHOAE47KEctodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, neuro-ectodermal phenotype, not provided,
Hemihypertrophy
Pathogenic
(Nov 25, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr3:49412898
GRCh38:
Chr3:49375465
RHOAY42FGastric adenocarcinoma, Squamous cell carcinoma of the head and neck, Non-Hodgkin lymphoma
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
10.
GRCh37:
Chr3:49412898
GRCh38:
Chr3:49375465
RHOAY42SGastric adenocarcinoma, Non-Hodgkin lymphoma, Squamous cell carcinoma of the head and neck
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
11.
GRCh37:
Chr3:49412898
GRCh38:
Chr3:49375465
RHOAY42CGastric adenocarcinoma, Squamous cell carcinoma of the head and neck, Non-Hodgkin lymphoma
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
12.
GRCh37:
Chr3:49412905
GRCh38:
Chr3:49375472
RHOAE40KGastric adenocarcinoma, Breast neoplasm, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
13.
GRCh37:
Chr3:49412905
GRCh38:
Chr3:49375472
RHOAE40QBreast neoplasm, Gastric adenocarcinoma, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
14.
GRCh37:
Chr3:49412996
GRCh38:
Chr3:49375563
RHOAnot providedBenign
(Jul 6, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr3:49413009
GRCh38:
Chr3:49375576
RHOAR5LGastric adenocarcinoma, Neoplasm of the large intestine, Esophageal carcinoma,
Non-Hodgkin lymphoma, Breast neoplasm
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
16.
GRCh37:
Chr3:49413009
GRCh38:
Chr3:49375576
RHOAR5QNeoplasm of the large intestine, Esophageal carcinoma, Non-Hodgkin lymphoma,
Gastric adenocarcinoma, Breast neoplasm
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
17.
GRCh37:
Chr3:49413010
GRCh38:
Chr3:49375577
RHOAR5WNeoplasm of the large intestine, Non-Hodgkin lymphoma, Gastric adenocarcinoma,
Esophageal carcinoma, Breast neoplasm
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
18.
GRCh37:
Chr3:49060512-49678685
not specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr3:49394821-49459947
AMT, GPX1, NICN1, RHOA, TCTANon-ketotic hyperglycinemiaUncertain significance
(Oct 20, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr3:48507870-50340407
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1, Aicardi-Goutieres syndrome 1
Pathogenic
(Aug 2, 2020)
criteria provided, single submitter
21.
GRCh37:
Chr3:48807193-51363558
not providedPathogenic
(Apr 10, 2020)
no assertion criteria provided
22.
GRCh37:
Chr3:49158649-49570642
Pierson syndrome, LAMB2-related infantile-onset nephrotic syndromePathogenic
(Aug 23, 2019)
criteria provided, single submitter
23.
GRCh37:
Chr3:48346677-49630228
not providedPathogenic
(Apr 9, 2019)
no assertion criteria provided
24.
GRCh37:
Chr3:45153770-53878616
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr3:61495-197838262
LRRC2, LRRC31, LRRC34, LRRC3B, LRRC58, LRRFIP2, LRRIQ4, LRRN1, LRTM1, LSAMP, LSG1, LSM3, LSMEM2, LTF, LXN, LYZL4, LZTFL1, MAGEF1, MAGI1, MANF, MAP3K13, MAP4, MAP6D1, MAPKAPK3, MASP1, MB21D2, MBD4, MBNL1, MCCC1, MCF2L2, MCM2, MECOM, MED12L, MELTF, METTL6, MFN1, MFSD1, MGLL, MINDY4B, MIR1224, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, MIR570, MIRLET7G, MITF, MIX23, MKRN2, MLF1, MLH1, MME, MOBP, MON1A, MORC1, MORC1-AS1, MRAS, MRPL3, MRPL47, MRPS22, MRPS25, MSL2, MST1, MST1R, MTMR14, MUC13, MUC20, MUC4, MUSTN1, MYD88, MYH15, MYL3, MYLK, MYNN, MYRIP, NAA50, NAA80, NAALADL2, NBEAL2, NCBP2, NCEH1, NCK1, NCKIPSD, NDUFAF3, NDUFB4, NDUFB5, NECTIN3, NECTIN3-AS1, NEK10, NEK11, NEK4, NEPRO, NFKBIZ, NGLY1, NICN1, NISCH, NIT2, NKIRAS1, NKTR, NLGN1, NMD3, NME6, NME9, NMNAT3, NPHP3, NPRL2, NR1D2, NR1I2, NR2C2, NRROS, NSUN3, NT5DC2, NUDT16, NUP210, NXPE3, OGG1, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K2, OR5K3, OR5K4, OSBPL10, OSBPL11, OSTN, OTOL1, OXNAD1, OXSM, OXSR1, OXTR, P2RY1, P2RY12, P2RY13, P2RY14, P3H2, P4HTM, PAK2, PAQR9, PARL, PARP14, PARP15, PARP3, PARP9, PBRM1, PCBP4, PCCB, PCNP, PCOLCE2, PCYT1A, PDCD10, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PEX5L, PFKFB4, PFN2, PHC3, PHF7, PHLDB2, PIGX, PIGZ, PIK3CA, PIK3CB, PIK3R4, PLA1A, PLAAT1, PLCD1, PLCH1, PLCL2, PLCXD2, PLD1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PLXNA1, PLXNB1, PLXND1, POC1A, PODXL2, POGLUT1, POLQ, POLR2H, POMGNT2, POPDC2, POU1F1, PP2D1, PPARG, PPM1L, PPM1M, PPP1R2, PPP2R3A, PPP4R2, PRICKLE2, PRKAR2A, PRKCD, PRKCI, PROK2, PROS1, PRR23A, PRR23B, PRR23C, PRR23E, PRRT3, PRSS50, PSMD2, PSMD6, PTH1R, PTPN23, PTPRG, PTX3, PXK, PXYLP1, PYDC2, QARS1, QRICH1, QTRT2, RAB43, RAB5A, RAB6B, RAB7A, RABL3, RAD18, RAD54L2, RAF1, RAP2B, RARB, RARRES1, RASA2, RASSF1, RBM15B, RBM5, RBM6, RBMS3, RBP1, RBP2, RBSN, RETNLB, RFC4, RFT1, RFTN1, RHO, RHOA, RIOX2, RNF123, RNF13, RNF168, RNF7, ROBO1, ROBO2, ROPN1, ROPN1B, RPL14, RPL15, RPL22L1, RPL24, RPL29, RPL32, RPL35A, RPL39L, RPN1, RPP14, RPSA, RPUSD3, RRP9, RSRC1, RTP1, RTP2, RTP3, RTP4, RUBCN, RUVBL1, RYBP, RYK, SACM1L, SAMD7, SATB1, SCAP, SCHIP1, SCN10A, SCN11A, SCN5A, SEC13, SEC22A, SEC22C, SEC61A1, SEC62, SELENOK, SELENOT, SEMA3B, SEMA3F, SEMA3F-AS1, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SERP1, SERPINI1, SERPINI2, SETD2, SETD5, SETMAR, SFMBT1, SGO1, SH3BP5, SHISA5, SHOX2, SHQ1, SI, SIAH2, SIDT1, SKIL, SLC12A8, SLC15A2, SLC22A13, SLC22A14, SLC25A20, SLC25A36, SLC25A38, SLC26A6, SLC2A2, SLC33A1, SLC35A5, SLC35G2, SLC38A3, SLC41A3, SLC49A4, SLC4A7, SLC51A, SLC6A1, SLC6A11, SLC6A20, SLC6A6, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SLITRK3, SLMAP, SMARCC1, SMC4, SMCO1, SNORA62, SNORA63, SNORA81, SNRK, SNTN, SNX4, SOX14, SOX2, SOX2-OT, SPATA12, SPATA16, SPCS1, SPICE1, SPINK8, SPSB4, SPTSSB, SRGAP3, SRPRB, SS18L2, SSR3, SST, SSUH2, ST3GAL6, ST6GAL1, STAB1, STAC, STAG1, STIMATE, STIMATE-MUSTN1, STT3B, STX19, STXBP5L, SUCLG2, SUCNR1, SUMF1, SUSD5, SYN2, SYNPR, TADA3, TAFA1, TAFA4, TAGLN3, TAMM41, TASOR, TATDN2, TBC1D23, TBC1D5, TBCCD1, TBL1XR1, TCAIM, TCTA, TERC, TEX264, TEX55, TF, TFDP2, TFG, TFRC, TGFBR2, TGM4, THOC7, THPO, THRB, THUMPD3, TIGIT, TIMMDC1, TIMP4, TIPARP, TKT, TLR9, TM4SF1, TM4SF18, TM4SF19, TM4SF4, TMA7, TMCC1, TMEM108, TMEM115, TMEM158, TMEM207, TMEM212, TMEM39A, TMEM40, TMEM41A, TMEM42, TMEM43, TMEM44, TMEM45A, TMEM89, TMF1, TMIE, TMPPE, TMPRSS7, TNFSF10, TNIK, TNK2, TNK2-AS1, TNNC1, TOMM70, TOP2B, TOPAZ1, TOPBP1, TP63, TPRA1, TPRG1, TRA2B, TRAIP, TRAK1, TRANK1, TRAT1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRMT10C, TRNT1, TRPC1, TSC22D2, TSEN2, TTC14, TTC21A, TTLL3, TUSC2, TWF2, TXNRD3, TXNRD3NB, U2SURP, UBA3, UBA5, UBA7, UBE2E1, UBE2E2, UBP1, UBXN7, UCN2, ULK4, UMPS, UPK1B, UQCC5, UQCRC1, UROC1, USF3, USP13, USP19, USP4, UTS2B, VEPH1, VGLL3, VGLL4, VHL, VILL, VIPR1, VPS8, VWA5B2, WDR48, WDR49, WDR53, WDR5B, WDR6, WDR82, WNT5A, WNT7A, WWTR1, XCR1, XIRP1, XPC, XRN1, XXYLT1, XYLB, YEATS2, ZBBX, ZBED2, ZBTB11, ZBTB20, ZBTB38, ZBTB47, ZCWPW2, ZDHHC19, ZDHHC23, ZDHHC3, ZIC1, ZIC4, ZKSCAN7, ZMAT3, ZMYND10, ZNF148, ZNF197, ZNF35, ZNF385D, ZNF445, ZNF501, ZNF502, ZNF589, ZNF619, ZNF620, ZNF621, ZNF639, ZNF654, ZNF660, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZPLD1, ZXDC, A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABHD10, ABHD14A, ABHD14B, ABHD5, ABHD6, ABI3BP, ABTB1, ACAA1, ACAD11, ACAD9, ACAP2, ACKR2, ACKR4, ACOX2, ACP3, ACTL6A, ACTR8, ACTRT3, ACVR2B, ACY1, ADAMTS9, ADCY5, ADGRG7, ADIPOQ, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, ALDH1L1, ALG1L2, ALG3, ALS2CL, AMIGO3, AMOTL2, AMT, ANAPC13, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, APOD, APPL1, APRG1, ARF4, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARIH2, ARIH2OS, ARL13B, ARL14, ARL6, ARL6IP5, ARL8B, ARMC8, ARPC4, ARPC4-TTLL3, ARPP21, ASB14, ASTE1, ATG3, ATG7, ATP11B, ATP13A3, ATP13A4, ATP13A5, ATP1B3, ATP2B2, ATP2C1, ATP6V1A, ATR, ATRIP, ATXN7, AZI2, B3GALNT1, B3GNT5, B4GALT4, BAP1, BBX, BCHE, BCL6, BDH1, BFSP2, BHLHE40, BOC, BRK1, BRPF1, BSN, BTD, BTLA, C3orf18, C3orf20, C3orf22, C3orf33, C3orf36, C3orf38, C3orf52, C3orf62, C3orf70, C3orf80, C3orf84, CACNA1D, CACNA2D2, CACNA2D3, CADM2, CADPS, CAMK1, CAMK2N2, CAMKV, CAMP, CAND2, CAPN7, CASR, CAV3, CBLB, CCDC12, CCDC13, CCDC14, CCDC174, CCDC191, CCDC39, CCDC50, CCDC51, CCDC54, CCDC66, CCDC71, CCDC80, CCK, CCNL1, CCR1, CCR2, CCR3, CCR4, CCR5, CCR8, CCR9, CCRL2, CD200, CD200R1, CD200R1L, CD47, CD80, CD86, CD96, CDC25A, CDCP1, CDHR4, CDV3, CELSR3, CEP15, CEP19, CEP63, CEP70, CEP97, CFAP100, CFAP20DC, CFAP44, CFAP91, CFAP92, CGGBP1, CHCHD4, CHCHD6, CHDH, CHL1, CHMP2B, CHRD, CHST13, CHST2, CIDEC, CIP2A, CISH, CLASP2, CLCN2, CLDN1, CLDN11, CLDN16, CLDN18, CLDND1, CLEC3B, CLRN1, CLSTN2, CMC1, CMSS1, CMTM6, CMTM7, CMTM8, CNBP, CNOT10, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COL8A1, COLQ, COMMD2, COPB2, COPG1, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CPNE9, CPOX, CRBN, CRELD1, CRIPTO, CRTAP, CRYBG3, CRYGS, CSPG5, CSRNP1, CSTA, CTDSPL, CTNNB1, CX3CR1, CXCR6, CYB561D2, CYP8B1, DAG1, DALRD3, DAZL, DBR1, DCAF1, DCBLD2, DCLK3, DCP1A, DCUN1D1, DENND6A, DGKG, DHFR2, DHX30, DHX36, DIPK2A, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DNAJC19, DNASE1L3, DOCK3, DPH3, DPPA2, DPPA4, DRD3, DTX3L, DUSP7, DVL3, DYNC1LI1, DYNLT2B, DZIP1L, DZIP3, EAF1, EAF2, EBLN2, ECE2, ECT2, EDEM1, EEFSEC, EFCAB12, EFCC1, EFHB, EGOT, EHHADH, EIF1B, EIF2A, EIF2B5, EIF4A2, EIF4E3, EIF4G1, EIF5A2, ELP6, EMC3, ENTPD3, EOGT, EOMES, EPHA3, EPHA6, EPHB1, EPHB3, EPM2AIP1, ERC2, ERICH6, ESRG, ESYT3, ETV5, EXOG, EXOSC7, FAIM, FAM107A, FAM131A, FAM162A, FAM3D, FAM43A, FANCD2, FANCD2OS, FBLN2, FBXL2, FBXO40, FBXO45, FBXW12, FETUB, FEZF2, FGD5, FGD5-AS1, FGF12, FHIT, FILIP1L, FLNB, FNDC3B, FOXL2, FOXL2NB, FOXP1, FOXP1-IT1, FRG2C, FRMD4B, FSTL1, FXR1, FYCO1, FYTTD1, GABRR3, GADL1, GALNT15, GAP43, GASK1A, GATA2, GBE1, GCSAM, GFM1, GHRL, GHRLOS, GHSR, GK5, GLB1, GLT8D1, GLYCTK, GMNC, GMPPB, GMPS, GNAI2, GNAT1, GNB4, GNL3, GOLGA4, GOLGB1, GOLIM4, GORASP1, GP5, GP9, GPD1L, GPR149, GPR15, GPR156, GPR160, GPR171, GPR27, GPR62, GPR87, GPX1, GRAMD1C, GRIP2, GRK7, GRM2, GRM7, GSK3B, GTF2E1, GTPBP8, GUCA1C, GXYLT2, GYG1, H1-10, H1-8, HACD2, HACL1, HCLS1, HDAC11, HEG1, HEMK1, HES1, HESX1, HGD, HHATL, HHLA2, HIGD1A, HLTF, HMCES, HPS3, HRG, HRH1, HSPBAP1, HTR1F, HTR3C, HTR3D, HTR3E, HYAL1, HYAL2, HYAL3, IFRD2, IFT122, IFT57, IFT80, IGF2BP2, IGSF10, IGSF11, IGSF11-AS1, IHO1, IL12A, IL17RB, IL17RC, IL17RD, IL17RE, IL1RAP, IL20RB, IL5RA, ILDR1, IMPDH2, IMPG2, INKA1, IP6K1, IP6K2, IQCB1, IQCF1, IQCF2, IQCF3, IQCF5, IQCF6, IQCG, IQCJ, IQCJ-SCHIP1, IQSEC1, IRAK2, ISY1, ISY1-RAB43, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KAT2B, KBTBD12, KBTBD8, KCNAB1, KCNH8, KCNMB2, KCNMB3, KCTD6, KIAA1143, KIF15, KIF9, KLF15, KLHDC8B, KLHL18, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KPNA4, KRBOX1, KRBOX1-AS1, KY, LAMB2, LAMP3, LARS2, LEKR1, LHFPL4, LIMD1, LINC00312, LINC01565, LINC02877, LIPH, LMCD1, LMLN, LMOD3, LNP1, LPP, LRCH3, LRIG1, LRRC15
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
26.
GRCh37:
Chr3:60174-197948027
A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABHD10, ABHD14A, ABHD14B, ABHD5, ABHD6, ABI3BP, ABTB1, ACAA1, ACAD11, ACAD9, ACAP2, ACKR2, ACKR4, ACOX2, ACP3, ACTL6A, ACTR8, ACTRT3, ACVR2B, ACY1, ADAMTS9, ADCY5, ADGRG7, ADIPOQ, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, ALDH1L1, ALG1L2, ALG3, ALS2CL, AMIGO3, AMOTL2, AMT, ANAPC13, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, APOD, APPL1, APRG1, ARF4, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARIH2, ARIH2OS, ARL13B, ARL14, ARL6, ARL6IP5, ARL8B, ARMC8, ARPC4, ARPC4-TTLL3, ARPP21, ASB14, ASTE1, ATG3, ATG7, ATP11B, ATP13A3, ATP13A4, ATP13A5, ATP1B3, ATP2B2, ATP2C1, ATP6V1A, ATR, ATRIP, ATXN7, AZI2, B3GALNT1, B3GNT5, B4GALT4, BAP1, BBX, BCHE, BCL6, BDH1, BFSP2, BHLHE40, BOC, BRK1, BRPF1, BSN, BTD, BTLA, C3orf18, C3orf20, C3orf22, C3orf33, C3orf36, C3orf38, C3orf52, C3orf62, C3orf70, C3orf80, C3orf84, CACNA1D, CACNA2D2, CACNA2D3, CADM2, CADPS, CAMK1, CAMK2N2, CAMKV, CAMP, CAND2, CAPN7, CASR, CAV3, CBLB, CCDC12, CCDC13, CCDC14, CCDC174, CCDC191, CCDC39, CCDC50, CCDC51, CCDC54, CCDC66, CCDC71, CCDC80, CCK, CCNL1, CCR1, CCR2, CCR3, CCR4, CCR5, CCR8, CCR9, CCRL2, CD200, CD200R1, CD200R1L, CD47, CD80, CD86, CD96, CDC25A, CDCP1, CDHR4, CDV3, CELSR3, CEP15, CEP19, CEP63, CEP70, CEP97, CFAP100, CFAP20DC, CFAP44, CFAP91, CFAP92, CGGBP1, CHCHD4, CHCHD6, CHDH, CHL1, CHMP2B, CHRD, CHST13, CHST2, CIDEC, CIP2A, CISH, CLASP2, CLCN2, CLDN1, CLDN11, CLDN16, CLDN18, CLDND1, CLEC3B, CLRN1, CLSTN2, CMC1, CMSS1, CMTM6, CMTM7, CMTM8, CNBP, CNOT10, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COL8A1, COLQ, COMMD2, COPB2, COPG1, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CPNE9, CPOX, CRBN, CRELD1, CRIPTO, CRTAP, CRYBG3, CRYGS, CSPG5, CSRNP1, CSTA, CTDSPL, CTNNB1, CX3CR1, CXCR6, CYB561D2, CYP8B1, DAG1, DALRD3, DAZL, DBR1, DCAF1, DCBLD2, DCLK3, DCP1A, DCUN1D1, DENND6A, DGKG, DHFR2, DHX30, DHX36, DIPK2A, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DNAJC19, DNASE1L3, DOCK3, DPH3, DPPA2, DPPA4, DRD3, DTX3L, DUSP7, DVL3, DYNC1LI1, DYNLT2B, DZIP1L, DZIP3, EAF1, EAF2, EBLN2, ECE2, ECT2, EDEM1, EEFSEC, EFCAB12, EFCC1, EFHB, EGOT, EHHADH, EIF1B, EIF2A, EIF2B5, EIF4A2, EIF4E3, EIF4G1, EIF5A2, ELP6, EMC3, ENTPD3, EOGT, EOMES, EPHA3, EPHA6, EPHB1, EPHB3, EPM2AIP1, ERC2, ERICH6, ESRG, ESYT3, ETV5, EXOG, EXOSC7, FAIM, FAM107A, FAM131A, FAM157A, FAM162A, FAM3D, FAM43A, FANCD2, FANCD2OS, FBLN2, FBXL2, FBXO40, FBXO45, FBXW12, FETUB, FEZF2, FGD5, FGD5-AS1, FGF12, FOXL2NB, FHIT, FILIP1L, FLNB, FNDC3B, FOXL2, FOXP1, FOXP1-IT1, FRG2C, FRMD4B, FSTL1, FXR1, FYCO1, FYTTD1, GABRR3, GADL1, GALNT15, GAP43, GASK1A, GATA2, GBE1, GCSAM, GFM1, GHRL, GHRLOS, GHSR, GK5, GLB1, GLT8D1, GLYCTK, GMNC, GMPPB, GMPS, GNAI2, GNAT1, GNB4, GNL3, GOLGA4, GOLGB1, GOLIM4, GORASP1, GP5, GP9, GPD1L, GPR149, GPR15, GPR156, GPR160, GPR171, GPR27, GPR62, GPR87, GPX1, GRAMD1C, GRIP2, GRK7, GRM2, GRM7, GSK3B, GTF2E1, GTPBP8, GUCA1C, GXYLT2, GYG1, H1-10, H1-8, HACD2, HACL1, HCLS1, HDAC11, HEG1, HEMK1, HES1, HESX1, HGD, HHATL, HHLA2, HIGD1A, HLTF, HMCES, HPS3, HRG, HRH1, HSPBAP1, HTR1F, HTR3C, HTR3D, HTR3E, HYAL1, HYAL2, HYAL3, IFRD2, IFT122, IFT57, IFT80, IGF2BP2, IGSF10, IGSF11, IGSF11-AS1, IHO1, IL12A, IL17RB, IL17RC, IL17RD, IL17RE, IL1RAP, IL20RB, IL5RA, ILDR1, IMPDH2, IMPG2, INKA1, IP6K1, IP6K2, IQCB1, IQCF1, IQCF2, IQCF3, IQCF5, IQCF6, IQCG, IQCJ, IQCJ-SCHIP1, IQSEC1, IRAK2, ISY1, ISY1-RAB43, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KAT2B, KBTBD12, KBTBD8, KCNAB1, KCNH8, KCNMB2, KCNMB3, KCTD6, KIAA1143, KIF15, KIF9, KLF15, KLHDC8B, KLHL18, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KPNA4, KRBOX1, KRBOX1-AS1, KY, LAMB2, LAMP3, LARS2, LEKR1, LHFPL4, LIMD1, LINC00312, LINC01565, LINC02877, LIPH, LMCD1, LMLN, LMOD3, LNP1, LPP, LRCH3, LRIG1, LRRC15, LRRC2, LRRC31, LRRC34, LRRC3B, LRRC58, LRRFIP2, LRRIQ4, LRRN1, LRTM1, LSAMP, LSG1, LSM3, LSMEM2, LTF, LXN, LYZL4, LZTFL1, MAGEF1, MAGI1, MANF, MAP3K13, MAP4, MAP6D1, MAPKAPK3, MASP1, MB21D2, MBD4, MBNL1, MCCC1, MCF2L2, MCM2, MECOM, MED12L, MELTF, METTL6, MFN1, MFSD1, MGLL, MINDY4B, MIR1224, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, MIR570, MIRLET7G, MITF, MIX23, MKRN2, MLF1, MLH1, MME, MOBP, MON1A, MORC1, MORC1-AS1, MRAS, MRPL3, MRPL47, MRPS22, MRPS25, MSL2, MST1, MST1R, MTMR14, MUC13, MYH15, MUC20, MUC4, MUSTN1, MYD88, MYL3, MYLK, MYNN, MYRIP, NAA50, NAA80, NAALADL2, NBEAL2, NCBP2, NCEH1, NCK1, NCKIPSD, NDUFAF3, NDUFB4, NDUFB5, NECTIN3, NECTIN3-AS1, NEK10, NEK11, NEK4, NEPRO, NFKBIZ, NGLY1, NICN1, NISCH, NIT2, NKIRAS1, NKTR, NLGN1, NMD3, NME6, NME9, NMNAT3, NPHP3, NPRL2, NR1D2, NR1I2, NR2C2, NRROS, NSUN3, NT5DC2, NUDT16, NUP210, NXPE3, OGG1, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K2, OR5K3, OR5K4, OSBPL10, OSBPL11, OSTN, OTOL1, OXNAD1, OXSM, OXSR1, OXTR, P2RY1, P2RY12, P2RY13, P2RY14, P3H2, P4HTM, PAK2, PAQR9, PARL, PARP14, PARP15, PARP3, PARP9, PBRM1, PCBP4, PCCB, PCNP, PCOLCE2, PCYT1A, PDCD10, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PEX5L, PFKFB4, PFN2, PHC3, PHF7, PHLDB2, PIGX, PIGZ, PIK3CA, PIK3CB, PIK3R4, PLA1A, PLAAT1, PLCD1, PLCH1, PLCL2, PLCXD2, PLD1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PLXNA1, PLXNB1, PLXND1, POC1A, PODXL2, POGLUT1, POLQ, POLR2H, POMGNT2, POPDC2, POU1F1, PP2D1, PPARG, PPM1L, PPM1M, PPP1R2, PPP2R3A, PPP4R2, PRICKLE2, PRKAR2A, PRKCD, PRKCI, PROK2, PROS1, PRR23A, PRR23B, PRR23C, PRR23E, PRRT3, PRSS50, PSMD2, PSMD6, PTH1R, PTPN23, PTPRG, PTX3, PXK, PXYLP1, PYDC2, QARS1, QRICH1, QTRT2, RAB43, RAB5A, RAB6B, RAB7A, RABL3, RAD18, RAD54L2, RAF1, RAP2B, RARB, RARRES1, RASA2, RASSF1, RBM15B, RBM5, RBM6, RBMS3, RBP1, RBP2, RBSN, RETNLB, RFC4, RFT1, RFTN1, RHO, RHOA, RIOX2, RNF123, RNF13, RNF168, RNF7, ROBO1, ROBO2, ROPN1, ROPN1B, RPL14, RPL15, RPL22L1, RPL24, RPL29, RPL32, RPL35A, RPL39L, RPN1, RPP14, RPSA, RPUSD3, RRP9, RSRC1, RTP1, RTP2, RTP3, RTP4, RUBCN, RUVBL1, RYBP, RYK, SACM1L, SAMD7, SATB1, SCAP, SCHIP1, SCN10A, SCN11A, SCN5A, SEC13, SEC22A, SEC22C, SEC61A1, SEC62, SELENOK, SELENOT, SEMA3B, SEMA3F, SEMA3F-AS1, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SERP1, SERPINI1, SERPINI2, SETD2, SETD5, SETMAR, SFMBT1, SGO1, SH3BP5, SHISA5, SHOX2, SHQ1, SI, SIAH2, SIDT1, SKIL, SLC12A8, SLC15A2, SLC22A13, SLC22A14, SLC25A20, SLC25A36, SLC25A38, SLC26A6, SLC2A2, SLC33A1, SLC35A5, SLC35G2, SLC38A3, SLC41A3, SLC49A4, SLC4A7, SLC51A, SLC6A1, SLC6A11, SLC6A20, SLC6A6, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SLITRK3, SLMAP, SMARCC1, SMC4, SMCO1, SNORA62, SNORA63, SNORA81, SNRK, SNTN, SNX4, SOX14, SOX2, SOX2-OT, SPATA12, SPATA16, SPCS1, SPICE1, SPINK8, SPSB4, SPTSSB, SRGAP3, SRPRB, SS18L2, SSR3, SST, SSUH2, ST3GAL6, ST6GAL1, STAB1, STAC, STAG1, STIMATE, STIMATE-MUSTN1, STT3B, STX19, STXBP5L, SUCLG2, SUCNR1, SUMF1, SUSD5, SYN2, SYNPR, TADA3, TAFA1, TAFA4, TAGLN3, TAMM41, TASOR, TATDN2, TBC1D23, TBC1D5, TBCCD1, TBL1XR1, TCAIM, TCTA, TERC, TEX264, TEX55, TF, TFDP2, TFG, TFRC, TGFBR2, TGM4, THOC7, THPO, THRB, THUMPD3, TIGIT, TIMMDC1, TIMP4, TIPARP, TKT, TLR9, TM4SF1, TM4SF18, TM4SF19, TM4SF4, TMA7, TMCC1, TMEM108, TMEM115, TMEM158, TMEM207, TMEM212, TMEM39A, TMEM40, TMEM41A, TMEM42, TMEM43, TMEM44, TMEM45A, TMEM89, TMF1, TMIE, TMPPE, TMPRSS7, TNFSF10, TNIK, TNK2, TNK2-AS1, TNNC1, TOMM70, TOP2B, TOPAZ1, TOPBP1, TP63, TPRA1, TPRG1, TRA2B, TRAIP, TRAK1, TRANK1, TRAT1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRMT10C, TRNT1, TRPC1, TSC22D2, TSEN2, TTC14, TTC21A, TTLL3, TUSC2, TWF2, TXNRD3, TXNRD3NB, U2SURP, UBA3, UBA5, UBA7, UBE2E1, UBE2E2, UBP1, UBXN7, UCN2, ULK4, UMPS, UPK1B, UQCC5, UQCRC1, UROC1, USF3, USP13, USP19, USP4, UTS2B, VEPH1, VGLL3, VGLL4, VHL, VILL, VIPR1, VPS8, VWA5B2, WDR48, WDR49, WDR53, WDR5B, WDR6, WDR82, WNT5A, WNT7A, WWTR1, XCR1, XIRP1, XPC, XRN1, XXYLT1, XYLB, YEATS2, ZBBX, ZBED2, ZBTB11, ZBTB20, ZBTB38, ZBTB47, ZCWPW2, ZDHHC19, ZDHHC23, ZDHHC3, ZIC1, ZIC4, ZKSCAN7, ZMAT3, ZMYND10, ZNF148, ZNF197, ZNF35, ZNF385D, ZNF445, ZNF501, ZNF502, ZNF589, ZNF619, ZNF620, ZNF621, ZNF639, ZNF654, ZNF660, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZPLD1, ZXDC
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
27.
GRCh37:
Chr3:61892-197851986
FBXL2, FBXO40, FBXO45, FBXW12, FETUB, FEZF2, FGD5, FGD5-AS1, FGF12, FHIT, FILIP1L, FLNB, FNDC3B, FOXL2, FOXL2NB, FOXP1, FOXP1-IT1, FRG2C, FRMD4B, FSTL1, FXR1, FYCO1, FYTTD1, GABRR3, GADL1, GALNT15, GAP43, GASK1A, GATA2, GBE1, GCSAM, GFM1, GHRL, GHRLOS, GHSR, GK5, GLB1, GLT8D1, GLYCTK, GMNC, GMPPB, GMPS, GNAI2, GNAT1, GNB4, GNL3, GOLGA4, GOLGB1, GOLIM4, GORASP1, GP5, GP9, GPD1L, GPR149, GPR15, GPR156, GPR160, GPR171, GPR27, GPR62, GPR87, GPX1, GRAMD1C, GRIP2, GRK7, GRM2, GRM7, GSK3B, GTF2E1, GTPBP8, GUCA1C, GXYLT2, GYG1, H1-10, H1-8, HACD2, HACL1, HCLS1, HDAC11, HEG1, HEMK1, HES1, HESX1, HGD, HHATL, HHLA2, HIGD1A, HLTF, HMCES, HPS3, HRG, HRH1, HSPBAP1, HTR1F, HTR3C, HTR3D, HTR3E, HYAL1, HYAL2, HYAL3, IFRD2, IFT122, IFT57, IFT80, IGF2BP2, IGSF10, IGSF11, IGSF11-AS1, IHO1, IL12A, IL17RB, IL17RC, IL17RD, IL17RE, IL1RAP, IL20RB, IL5RA, ILDR1, IMPDH2, IMPG2, INKA1, IP6K1, IP6K2, IQCB1, IQCF1, IQCF2, IQCF3, IQCF5, IQCF6, IQCG, IQCJ, IQCJ-SCHIP1, IQSEC1, IRAK2, ISY1, ISY1-RAB43, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KAT2B, KBTBD12, KBTBD8, KCNAB1, KCNH8, KCNMB2, KCNMB3, KCTD6, KIAA1143, KIF15, KIF9, KLF15, KLHDC8B, KLHL18, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KPNA4, KRBOX1, KRBOX1-AS1, KY, LAMB2, LAMP3, LARS2, LEKR1, LHFPL4, LIMD1, LINC00312, LINC01565, LINC02877, LIPH, LMCD1, LMLN, LMOD3, LNP1, LPP, LRCH3, LRIG1, LRRC15, LRRC2, LRRC31, LRRC34, LRRC3B, LRRC58, LRRFIP2, LRRIQ4, LRRN1, LRTM1, LSAMP, LSG1, LSM3, LSMEM2, LTF, LXN, LYZL4, LZTFL1, MAGEF1, MAGI1, MANF, MAP3K13, MAP4, MAP6D1, MAPKAPK3, MASP1, MB21D2, MBD4, MBNL1, MCCC1, MCF2L2, MCM2, MECOM, MED12L, MELTF, METTL6, MFN1, MFSD1, MGLL, MINDY4B, MIR1224, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, MIR570, MIRLET7G, MITF, MIX23, MKRN2, MLF1, MLH1, MME, MOBP, MON1A, MORC1, MORC1-AS1, MRAS, MRPL3, MRPL47, MRPS22, MRPS25, MSL2, MST1, MST1R, MTMR14, MUC13, MUC20, MUC4, MUSTN1, MYD88, MYH15, MYL3, MYLK, MYNN, MYRIP, NAA50, NAA80, NAALADL2, NBEAL2, NCBP2, NCEH1, NCK1, NCKIPSD, NDUFAF3, NDUFB4, NDUFB5, NECTIN3, NECTIN3-AS1, NEK10, NEK11, NEK4, NEPRO, NFKBIZ, NGLY1, NICN1, NISCH, NIT2, NKIRAS1, NKTR, NLGN1, NMD3, NME6, NME9, NMNAT3, NPHP3, NPRL2, NR1D2, NR1I2, NR2C2, NRROS, NSUN3, NT5DC2, NUDT16, NUP210, NXPE3, OGG1, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K2, OR5K3, OR5K4, OSBPL10, OSBPL11, OSTN, OTOL1, OXNAD1, OXSM, OXSR1, OXTR, P2RY1, P2RY12, P2RY13, P2RY14, P3H2, P4HTM, PAK2, PAQR9, PARL, PARP14, PARP15, PARP3, PARP9, PBRM1, PCBP4, PCCB, PCNP, PCOLCE2, PCYT1A, PDCD10, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PEX5L, PFKFB4, PFN2, PHC3, PHF7, PHLDB2, PIGX, PIGZ, PIK3CA, PIK3CB, PIK3R4, PLA1A, PLAAT1, PLCD1, PLCH1, PLCL2, PLCXD2, PLD1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PLXNA1, PLXNB1, PLXND1, POC1A, PODXL2, POGLUT1, POLQ, POLR2H, POMGNT2, POPDC2, POU1F1, PP2D1, PPARG, PPM1L, PPM1M, PPP1R2, PPP2R3A, PPP4R2, PRICKLE2, PRKAR2A, PRKCD, PRKCI, PROK2, PROS1, PRR23A, PRR23B, PRR23C, PRR23E, PRRT3, PRSS50, PSMD2, PSMD6, PTH1R, PTPN23, PTPRG, PTX3, PXK, PXYLP1, PYDC2, QARS1, QRICH1, QTRT2, RAB43, RAB5A, RAB6B, RAB7A, RABL3, RAD18, RAD54L2, RAF1, RAP2B, RARB, RARRES1, RASA2, RASSF1, RBM15B, RBM5, RBM6, RBMS3, RBP1, RBP2, RBSN, RETNLB, RFC4, RFT1, RFTN1, RHO, RHOA, RIOX2, RNF123, RNF13, RNF168, RNF7, ROBO1, ROBO2, ROPN1, ROPN1B, RPL14, RPL15, RPL22L1, RPL24, RPL29, RPL32, RPL35A, RPL39L, RPN1, RPP14, RPSA, RPUSD3, RRP9, RSRC1, RTP1, RTP2, RTP3, RTP4, RUBCN, RUVBL1, RYBP, RYK, SACM1L, SAMD7, SATB1, SCAP, SCHIP1, SCN10A, SCN11A, SCN5A, SEC13, SEC22A, SEC22C, SEC61A1, SEC62, SELENOK, SELENOT, SEMA3B, SEMA3F, SEMA3F-AS1, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SERP1, SERPINI1, SERPINI2, SETD2, SETD5, SETMAR, SFMBT1, SGO1, SH3BP5, SHISA5, SHOX2, SHQ1, SI, SIAH2, SIDT1, SKIL, SLC12A8, SLC15A2, SLC22A13, SLC22A14, SLC25A20, SLC25A36, SLC25A38, SLC26A6, SLC2A2, SLC33A1, SLC35A5, SLC35G2, SLC38A3, SLC41A3, SLC49A4, SLC4A7, SLC51A, SLC6A1, SLC6A11, SLC6A20, SLC6A6, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SLITRK3, SLMAP, SMARCC1, SMC4, SMCO1, SNORA62, SNORA63, SNORA81, SNRK, SNTN, SNX4, SOX14, SOX2, SOX2-OT, SPATA12, SPATA16, SPCS1, SPICE1, SPINK8, SPSB4, SPTSSB, SRGAP3, SRPRB, SS18L2, SSR3, SST, SSUH2, ST3GAL6, ST6GAL1, STAB1, STAC, STAG1, STIMATE, STIMATE-MUSTN1, STT3B, STX19, STXBP5L, SUCLG2, SUCNR1, SUMF1, SUSD5, SYN2, SYNPR, TADA3, TAFA1, TAFA4, TAGLN3, TAMM41, TASOR, TATDN2, TBC1D23, TBC1D5, TBCCD1, TBL1XR1, TCAIM, TCTA, TERC, TEX264, TEX55, TF, TFDP2, TFG, TFRC, TGFBR2, TGM4, THOC7, THPO, THRB, THUMPD3, TIGIT, TIMMDC1, TIMP4, TIPARP, TKT, TLR9, TM4SF1, TM4SF18, TM4SF19, TM4SF4, TMA7, TMCC1, TMEM108, TMEM115, TMEM158, TMEM207, TMEM212, TMEM39A, TMEM40, TMEM41A, TMEM42, TMEM43, TMEM44, TMEM45A, TMEM89, TMF1, TMIE, TMPPE, TMPRSS7, TNFSF10, TNIK, TNK2, TNK2-AS1, TNNC1, TOMM70, TOP2B, TOPAZ1, TOPBP1, TP63, TPRA1, TPRG1, TRA2B, TRAIP, TRAK1, TRANK1, TRAT1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRMT10C, TRNT1, TRPC1, TSC22D2, TSEN2, TTC14, TTC21A, TTLL3, TUSC2, TWF2, TXNRD3, TXNRD3NB, U2SURP, UBA3, UBA5, UBA7, UBE2E1, UBE2E2, UBP1, UBXN7, UCN2, ULK4, UMPS, UPK1B, UQCC5, UQCRC1, UROC1, USF3, USP13, USP19, USP4, UTS2B, VEPH1, VGLL3, VGLL4, VHL, VILL, VIPR1, VPS8, VWA5B2, WDR48, WDR49, WDR53, WDR5B, WDR6, WDR82, WNT5A, WNT7A, WWTR1, XCR1, XIRP1, XPC, XRN1, XXYLT1, XYLB, YEATS2, ZBBX, ZBED2, ZBTB11, ZBTB20, ZBTB38, ZBTB47, ZCWPW2, ZDHHC19, ZDHHC23, ZDHHC3, ZIC1, ZIC4, ZKSCAN7, ZMAT3, ZMYND10, ZNF148, ZNF197, ZNF35, ZNF385D, ZNF445, ZNF501, ZNF502, ZNF589, ZNF619, ZNF620, ZNF621, ZNF639, ZNF654, ZNF660, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZPLD1, ZXDC, A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABHD10, ABHD14A, ABHD14B, ABHD5, ABHD6, ABI3BP, ABTB1, ACAA1, ACAD11, ACAD9, ACAP2, ACKR2, ACKR4, ACOX2, ACP3, ACTL6A, ACTR8, ACTRT3, ACVR2B, ACY1, ADAMTS9, ADCY5, ADGRG7, ADIPOQ, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, ALDH1L1, ALG1L2, ALG3, ALS2CL, AMIGO3, AMOTL2, AMT, ANAPC13, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, APOD, APPL1, APRG1, ARF4, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARIH2, ARIH2OS, ARL13B, ARL14, ARL6, ARL6IP5, ARL8B, ARMC8, ARPC4, ARPC4-TTLL3, ARPP21, ASB14, ASTE1, ATG3, ATG7, ATP11B, ATP13A3, ATP13A4, ATP13A5, ATP1B3, ATP2B2, ATP2C1, ATP6V1A, ATR, ATRIP, ATXN7, AZI2, B3GALNT1, B3GNT5, B4GALT4, BAP1, BBX, BCHE, BCL6, BDH1, BFSP2, BHLHE40, BOC, BRK1, BRPF1, BSN, BTD, BTLA, C3orf18, C3orf20, C3orf22, C3orf33, C3orf36, C3orf38, C3orf52, C3orf62, C3orf70, C3orf80, C3orf84, CACNA1D, CACNA2D2, CACNA2D3, CADM2, CADPS, CAMK1, CAMK2N2, CAMKV, CAMP, CAND2, CAPN7, CASR, CAV3, CBLB, CCDC12, CCDC13, CCDC14, CCDC174, CCDC191, CCDC39, CCDC50, CCDC51, CCDC54, CCDC66, CCDC71, CCDC80, CCK, CCNL1, CCR1, CCR2, CCR3, CCR4, CCR5, CCR8, CCR9, CCRL2, CD200, CD200R1, CD200R1L, CD47, CD80, CD86, CD96, CDC25A, CDCP1, CDHR4, CDV3, CELSR3, CEP15, CEP19, CEP63, CEP70, CEP97, CFAP100, CFAP20DC, CFAP44, CFAP91, CFAP92, CGGBP1, CHCHD4, CHCHD6, CHDH, CHL1, CHMP2B, CHRD, CHST13, CHST2, CIDEC, CIP2A, CISH, CLASP2, CLCN2, CLDN1, CLDN11, CLDN16, CLDN18, CLDND1, CLEC3B, CLRN1, CLSTN2, CMC1, CMSS1, CMTM6, CMTM7, CMTM8, CNBP, CNOT10, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COL8A1, COLQ, COMMD2, COPB2, COPG1, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CPNE9, CPOX, CRBN, CRELD1, CRIPTO, CRTAP, CRYBG3, CRYGS, CSPG5, CSRNP1, CSTA, CTDSPL, CTNNB1, CX3CR1, CXCR6, CYB561D2, CYP8B1, DAG1, DALRD3, DAZL, DBR1, DCAF1, DCBLD2, DCLK3, DCP1A, DCUN1D1, DENND6A, DGKG, DHFR2, DHX30, DHX36, DIPK2A, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DNAJC19, DNASE1L3, DOCK3, DPH3, DPPA2, DPPA4, DRD3, DTX3L, DUSP7, DVL3, DYNC1LI1, DYNLT2B, DZIP1L, DZIP3, EAF1, EAF2, EBLN2, ECE2, ECT2, EDEM1, EEFSEC, EFCAB12, EFCC1, EFHB, EGOT, EHHADH, EIF1B, EIF2A, EIF2B5, EIF4A2, EIF4E3, EIF4G1, EIF5A2, ELP6, EMC3, ENTPD3, EOGT, EOMES, EPHA3, EPHA6, EPHB1, EPHB3, EPM2AIP1, ERC2, ERICH6, ESRG, ESYT3, ETV5, EXOG, EXOSC7, FAIM, FAM107A, FAM131A, FAM162A, FAM3D, FAM43A, FANCD2, FANCD2OS, FBLN2
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
28.
GRCh37:
Chr3:61892-197851986
A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABHD10, ABHD14A, ABHD14B, ABHD5, ABHD6, ABI3BP, ABTB1, ACAA1, ACAD11, ACAD9, ACAP2, ACKR2, ACKR4, ACOX2, ACP3, ACTL6A, ACTR8, ACTRT3, ACVR2B, ACY1, ADAMTS9, ADCY5, ADGRG7, ADIPOQ, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, ALDH1L1, ALG1L2, ALG3, ALS2CL, AMIGO3, AMOTL2, AMT, ANAPC13, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, APOD, APPL1, APRG1, ARF4, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARIH2, ARIH2OS, ARL13B, ARL14, ARL6, ARL6IP5, ARL8B, ARMC8, ARPC4, ARPC4-TTLL3, ARPP21, ASB14, ASTE1, ATG3, ATG7, ATP11B, ATP13A3, ATP13A4, ATP13A5, ATP1B3, ATP2B2, ATP2C1, ATP6V1A, ATR, ATRIP, ATXN7, AZI2, B3GALNT1, B3GNT5, B4GALT4, BAP1, BBX, BCHE, BCL6, BDH1, BFSP2, BHLHE40, BOC, BRK1, BRPF1, BSN, BTD, BTLA, C3orf18, C3orf20, C3orf22, C3orf33, C3orf36, C3orf38, C3orf52, C3orf62, C3orf70, C3orf80, C3orf84, CACNA1D, CACNA2D2, CACNA2D3, CADM2, CADPS, CAMK1, CAMK2N2, CAMKV, CAMP, CAND2, CAPN7, CASR, CAV3, CBLB, CCDC12, CCDC13, CCDC14, CCDC174, CCDC191, CCDC39, CCDC50, CCDC51, CCDC54, CCDC66, CCDC71, CCDC80, CCK, CCNL1, CCR1, CCR2, CCR3, CCR4, CCR5, CCR8, CCR9, CCRL2, CD200, CD200R1, CD200R1L, CD47, CD80, CD86, CD96, CDC25A, CDCP1, CDHR4, CDV3, CELSR3, CEP15, CEP19, CEP63, CEP70, CEP97, CFAP100, CFAP20DC, CFAP44, CFAP91, CFAP92, CGGBP1, CHCHD4, CHCHD6, CHDH, CHL1, CHMP2B, CHRD, CHST13, CHST2, CIDEC, CIP2A, CISH, CLASP2, CLCN2, CLDN1, CLDN11, CLDN16, CLDN18, CLDND1, CLEC3B, CLRN1, CLSTN2, CMC1, CMSS1, CMTM6, CMTM7, CMTM8, CNBP, CNOT10, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COL8A1, COLQ, COMMD2, COPB2, COPG1, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CPNE9, CPOX, CRBN, CRELD1, CRIPTO, CRTAP, CRYBG3, CRYGS, CSPG5, CSRNP1, CSTA, CTDSPL, CTNNB1, CX3CR1, CXCR6, CYB561D2, CYP8B1, DAG1, DALRD3, DAZL, DBR1, DCAF1, DCBLD2, DCLK3, DCP1A, DCUN1D1, DENND6A, DGKG, DHFR2, DHX30, DHX36, DIPK2A, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DNAJC19, DNASE1L3, DOCK3, DPH3, DPPA2, DPPA4, DRD3, DTX3L, DUSP7, DVL3, DYNC1LI1, DYNLT2B, DZIP1L, DZIP3, EAF1, EAF2, EBLN2, ECE2, ECT2, EDEM1, EEFSEC, EFCAB12, EFCC1, EFHB, EGOT, EHHADH, EIF1B, EIF2A, EIF2B5, EIF4A2, EIF4E3, EIF4G1, EIF5A2, ELP6, EMC3, ENTPD3, EOGT, EOMES, EPHA3, EPHA6, EPHB1, EPHB3, EPM2AIP1, ERC2, ERICH6, ESRG, ESYT3, ETV5, EXOG, EXOSC7, FAIM, FAM107A, FAM131A, FAM162A, FAM3D, FAM43A, FANCD2, FANCD2OS, FBLN2, FBXL2, FBXO40, FBXO45, FBXW12, FETUB, FEZF2, FGD5, FGD5-AS1, FGF12, FOXL2NB, FHIT, FILIP1L, FLNB, FNDC3B, FOXL2, FOXP1, FOXP1-IT1, FRG2C, FRMD4B, FSTL1, FXR1, FYCO1, FYTTD1, GABRR3, GADL1, GALNT15, GAP43, GASK1A, GATA2, GBE1, GCSAM, GFM1, GHRL, GHRLOS, GHSR, GK5, GLB1, GLT8D1, GLYCTK, GMNC, GMPPB, GMPS, GNAI2, GNAT1, GNB4, GNL3, GOLGA4, GOLGB1, GOLIM4, GORASP1, GP5, GP9, GPD1L, GPR149, GPR15, GPR156, GPR160, GPR171, GPR27, GPR62, GPR87, GPX1, GRAMD1C, GRIP2, GRK7, GRM2, GRM7, GSK3B, GTF2E1, GTPBP8, GUCA1C, GXYLT2, GYG1, H1-10, H1-8, HACD2, HACL1, HCLS1, HDAC11, HEG1, HEMK1, HES1, HESX1, HGD, HHATL, HHLA2, HIGD1A, HLTF, HMCES, HPS3, HRG, HRH1, HSPBAP1, HTR1F, HTR3C, HTR3D, HTR3E, HYAL1, HYAL2, HYAL3, IFRD2, IFT122, IFT57, IFT80, IGF2BP2, IGSF10, IGSF11, IGSF11-AS1, IHO1, IL12A, IL17RB, IL17RC, IL17RD, IL17RE, IL1RAP, IL20RB, IL5RA, ILDR1, IMPDH2, IMPG2, INKA1, IP6K1, IP6K2, IQCB1, IQCF1, IQCF2, IQCF3, IQCF5, IQCF6, IQCG, IQCJ, IQCJ-SCHIP1, IQSEC1, IRAK2, ISY1, ISY1-RAB43, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KAT2B, KBTBD12, KBTBD8, KCNAB1, KCNH8, KCNMB2, KCNMB3, KCTD6, KIAA1143, KIF15, KIF9, KLF15, KLHDC8B, KLHL18, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KPNA4, KRBOX1, KRBOX1-AS1, KY, LAMB2, LAMP3, LARS2, LEKR1, LHFPL4, LIMD1, LINC00312, LINC01565, LINC02877, LIPH, LMCD1, LMLN, LMOD3, LNP1, LPP, LRCH3, LRIG1, LRRC15, LRRC2, LRRC31, LRRC34, LRRC3B, LRRC58, LRRFIP2, LRRIQ4, LRRN1, LRTM1, LSAMP, LSG1, LSM3, LSMEM2, LTF, LXN, LYZL4, LZTFL1, MAGEF1, MAGI1, MANF, MAP3K13, MAP4, MAP6D1, MAPKAPK3, MASP1, MB21D2, MBD4, MBNL1, MCCC1, MCF2L2, MCM2, MECOM, MED12L, MELTF, METTL6, MFN1, MFSD1, MGLL, MINDY4B, MIR1224, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, MIR570, MIRLET7G, MITF, MIX23, MKRN2, MLF1, MLH1, MME, MOBP, MON1A, MORC1, MORC1-AS1, MRAS, MRPL3, MRPL47, MRPS22, MRPS25, MSL2, MST1, MST1R, MTMR14, MUC13, MUC20, MUC4, MUSTN1, MYD88, MYH15, MYL3, MYLK, MYNN, MYRIP, NAA50, NAA80, NAALADL2, NBEAL2, NCBP2, NCEH1, NCK1, NCKIPSD, NDUFAF3, NDUFB4, NDUFB5, NECTIN3, NECTIN3-AS1, NEK10, NEK11, NEK4, NEPRO, NFKBIZ, NGLY1, NICN1, NISCH, NIT2, NKIRAS1, NKTR, NLGN1, NMD3, NME6, NME9, NMNAT3, NPHP3, NPRL2, NR1D2, NR1I2, NR2C2, NRROS, NSUN3, NT5DC2, NUDT16, NUP210, NXPE3, OGG1, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K2, OR5K3, OR5K4, OSBPL10, OSBPL11, OSTN, OTOL1, OXNAD1, OXSM, OXSR1, OXTR, P2RY1, P2RY12, P2RY13, P2RY14, P3H2, P4HTM, PAK2, PAQR9, PARL, PARP14, PARP15, PARP3, PARP9, PBRM1, PCBP4, PCCB, PCNP, PCOLCE2, PCYT1A, PDCD10, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PEX5L, PFKFB4, PFN2, PHC3, PHF7, PHLDB2, PIGX, PIGZ, PIK3CA, PIK3CB, PIK3R4, PLA1A, PLAAT1, PLCD1, PLCH1, PLCL2, PLCXD2, PLD1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PLXNA1, PLXNB1, PLXND1, POC1A, PODXL2, POGLUT1, POLQ, POLR2H, POMGNT2, POPDC2, POU1F1, PP2D1, PPARG, PPM1L, PPM1M, PPP1R2, PPP2R3A, PPP4R2, PRICKLE2, PRKAR2A, PRKCD, PRKCI, PROK2, PROS1, PRR23A, PRR23B, PRR23C, PRR23E, PRRT3, PRSS50, PSMD2, PSMD6, PTH1R, PTPN23, PTPRG, PTX3, PXK, PXYLP1, PYDC2, QARS1, QRICH1, QTRT2, RAB43, RAB5A, RAB6B, RAB7A, RABL3, RAD18, RAD54L2, RAF1, RAP2B, RARB, RARRES1, RASA2, RASSF1, RBM15B, RBM5, RBM6, RBMS3, RBP1, RBP2, RBSN, RETNLB, RFC4, RFT1, RFTN1, RHO, RHOA, RIOX2, RNF123, RNF13, RNF168, RNF7, ROBO1, ROBO2, ROPN1, ROPN1B, RPL14, RPL15, RPL22L1, RPL24, RPL29, RPL32, RPL35A, RPL39L, RPN1, RPP14, RPSA, RPUSD3, RRP9, RSRC1, RTP1, RTP2, RTP3, RTP4, RUBCN, RUVBL1, RYBP, RYK, SACM1L, SAMD7, SATB1, SCAP, SCHIP1, SCN10A, SCN11A, SCN5A, SEC13, SEC22A, SEC22C, SEC61A1, SEC62, SELENOK, SELENOT, SEMA3B, SEMA3F, SEMA3F-AS1, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SERP1, SERPINI1, SERPINI2, SETD2, SETD5, SETMAR, SFMBT1, SGO1, SH3BP5, SHISA5, SHOX2, SHQ1, SI, SIAH2, SIDT1, SKIL, SLC12A8, SLC15A2, SLC22A13, SLC22A14, SLC25A20, SLC25A36, SLC25A38, SLC26A6, SLC2A2, SLC33A1, SLC35A5, SLC35G2, SLC38A3, SLC41A3, SLC49A4, SLC4A7, SLC51A, SLC6A1, SLC6A11, SLC6A20, SLC6A6, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SLITRK3, SLMAP, SMARCC1, SMC4, SMCO1, SNORA62, SNORA63, SNORA81, SNRK, SNTN, SNX4, SOX14, SOX2, SOX2-OT, SPATA12, SPATA16, SPCS1, SPICE1, SPINK8, SPSB4, SPTSSB, SRGAP3, SRPRB, SS18L2, SSR3, SST, SSUH2, ST3GAL6, ST6GAL1, STAB1, STAC, STAG1, STIMATE, STIMATE-MUSTN1, STT3B, STX19, STXBP5L, SUCLG2, SUCNR1, SUMF1, SUSD5, SYN2, SYNPR, TADA3, TAFA1, TAFA4, TAGLN3, TAMM41, TASOR, TATDN2, TBC1D23, TBC1D5, TBCCD1, TBL1XR1, TCAIM, TCTA, TERC, TEX264, TEX55, TF, TFDP2, TFG, TFRC, TGFBR2, TGM4, THOC7, THPO, THRB, THUMPD3, TIGIT, TIMMDC1, TIMP4, TIPARP, TKT, TLR9, TM4SF1, TM4SF18, TM4SF19, TM4SF4, TMA7, TMCC1, TMEM108, TMEM115, TMEM158, TMEM207, TMEM212, TMEM39A, TMEM40, TMEM41A, TMEM42, TMEM43, TMEM44, TMEM45A, TMEM89, TMF1, TMIE, TMPPE, TMPRSS7, TNFSF10, TNIK, TNK2, TNK2-AS1, TNNC1, TOMM70, TOP2B, TOPAZ1, TOPBP1, TP63, TPRA1, TPRG1, TRA2B, TRAIP, TRAK1, TRANK1, TRAT1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRMT10C, TRNT1, TRPC1, TSC22D2, TSEN2, TTC14, TTC21A, TTLL3, TUSC2, TWF2, TXNRD3, TXNRD3NB, U2SURP, UBA3, UBA5, UBA7, UBE2E1, UBE2E2, UBP1, UBXN7, UCN2, ULK4, UMPS, UPK1B, UQCC5, UQCRC1, UROC1, USF3, USP13, USP19, USP4, UTS2B, VEPH1, VGLL3, VGLL4, VHL, VILL, VIPR1, VPS8, VWA5B2, WDR48, WDR49, WDR53, WDR5B, WDR6, WDR82, WNT5A, WNT7A, WWTR1, XCR1, XIRP1, XPC, XRN1, XXYLT1, XYLB, YEATS2, ZBBX, ZBED2, ZBTB11, ZBTB20, ZBTB38, ZBTB47, ZCWPW2, ZDHHC19, ZDHHC23, ZDHHC3, ZIC1, ZIC4, ZKSCAN7, ZMAT3, ZMYND10, ZNF148, ZNF197, ZNF35, ZNF385D, ZNF445, ZNF501, ZNF502, ZNF589, ZNF619, ZNF620, ZNF621, ZNF639, ZNF654, ZNF660, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZPLD1, ZXDC
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
29.
GRCh37:
Chr3:37028313-49929220
See casesLikely pathogenic
(Jan 20, 2016)
criteria provided, single submitter
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