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Items: 73

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:54079045-66046136
GRCh38:
Chr3:54045018-66060461
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr3:57174452-90309110
GRCh38:
Chr3:57140424-90259960
HTR1F, IL17RD, KBTBD8, KCTD6, LINC00506, LINC00698, LINC00870, LINC00877, LINC00960, LINC00971, LINC00994, LINC02005, LINC02008, LINC02018, LINC02025, LINC02027, LINC02040, LINC02047, LINC02050, LINC02070, LINC02077, LMOD3, LOC100130345, LOC101927296, LOC101927374, LOC105377102, LOC105377143, LOC105377146, LOC105377162, LOC107325936, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC108167314, LOC108281136, LOC108281142, LOC108660406, LOC110120604, LOC110120681, LOC110120682, LOC110120720, LOC110120791, LOC110120812, LOC110120986, LOC110120994, LOC110121007, LOC110121053, LOC110121087, LOC110121119, LOC110121240, LOC111562376, LOC111589208, LOC112935952, LOC112935953, LOC112935954, LOC112935955, LOC112935956, LOC112935957, LOC112935958, LOC112935959, LOC112935961, LOC112935962, LOC114004381, LOC115995512, LOC115995513, LOC115995514, LOC121009674, LOC121009675, LOC121009676, LOC121009677, LOC121009678, LOC121009679, LOC121009680, LOC121009681, LOC121009682, LOC121725147, LOC121725148, LOC121725149, LOC122965318, LOC122965319, LOC122965320, LOC122965321, LOC122965322, LOC122965323, LOC122965324, LOC122965325, LOC122965326, LOC122965327, LOC123000067, LOC123000068, LOC123000069, LOC123000070, LOC123000071, LOC123000072, LOC123002301, LOC123002302, LOC123002303, LOC123002304, LOC123002305, LOC123002306, LOC123002307, LOC123002308, LOC123002309, LOC123002310, LOC123002311, LOC123002312, LOC339902, LRIG1, MAGI1, MAGI1-AS1, MAGI1-IT1, MDFIC2, MIR1284, MIR1324, MIR3136, MIR3923, MIR4272, MIR4273, MIR4444-2, MIR4795, MIR548BB, MIR5688, MITF, NPCDR1, PDE12, PDHB, PDZRN3, PDZRN3-AS1, POU1F1, PPP4R2, PRICKLE2, PRICKLE2-AS1, PRICKLE2-AS2, PRICKLE2-AS3, PRICKLE2-DT, PROK2, PSMD6, PSMD6-AS2, PTPRG, PTPRG-AS1, PXK, ROBO1, ROBO2, RPP14, RYBP, SAMMSON, SCAANT1, SHQ1, SLC25A26, SLMAP, SNORA95, SNTN, SUCLG2, SUCLG2-DT, SYNPR, SYNPR-AS1, TAFA1, TAFA4, THOC7, THOC7-AS1, TMF1, UBA3, VGLL3, ZNF654, ZNF717, ABHD6, ACOX2, ADAMTS9, ADAMTS9-AS1, ADAMTS9-AS2, APPL1, ARF4, ARF4-AS1, ARL6IP5, ASB14, ATXN7, C3orf14, C3orf38, C3orf49, CADM2, CADM2-AS1, CADM2-AS2, CADPS, CFAP20DC, CFAP20DC-AS1, CGGBP1, CHMP2B, CNTN3, CSNKA2IP, DENND6A, DENND6A-DT, DNAH12, DNASE1L3, EBLN2, EIF4E3, EOGT, EPHA3, FAM107A, FAM3D, FAM3D-AS1, FEZF2, FHIT, FLNB, FLNB-AS1, FOXP1, FOXP1-AS1, FOXP1-IT1, FRG2C, FRMD4B, GBE1, GPR27, GXYLT2, HESX1, HTD2
See casesPathogenic
(Jul 25, 2012)
no assertion criteria provided
3.
GRCh37:
Chr3:57416265-64870197
GRCh38:
Chr3:57430538-64884522
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
4.
GRCh37:
Chr3:61956521-68514983
GRCh38:
Chr3:61970847-68465832
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr3:63808507-64419493
GRCh38:
Chr3:63822831-64433817
See casesUncertain significance
(Dec 10, 2012)
no assertion criteria provided
6.
GRCh37:
Chr3:63898353
GRCh38:
Chr3:63912677
ATXN7A27TInborn genetic diseasesUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr3:63898362
GRCh38:
Chr3:63912684-63912685
ATXN7, LOC108660406Spinocerebellar ataxia 7Pathogenic
(Apr 9, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr3:63898360-63898361
GRCh38:
Chr3:63912684-63912685
ATXN7, LOC108660406not specifiedLikely benign
(Mar 28, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr3:63898361-63898363
GRCh38:
Chr3:63912685-63912687
ATXN7, LOC108660406Q39delnot specifiedBenignno assertion criteria provided
10.
GRCh37:
Chr3:63898362-63898364
GRCh38:
Chr3:63912686-63912688
ATXN7, LOC108660406Spinocerebellar ataxia 7Benignno assertion criteria provided
11.
GRCh37:
Chr3:63898375
GRCh38:
Chr3:63912699
LOC108660406, ATXN7Q34PInborn genetic diseasesUncertain significance
(Mar 31, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr3:63898384-63898385
GRCh38:
Chr3:63912708-63912709
ATXN7, LOC108660406Spinocerebellar ataxia 7Uncertain significance
(Apr 27, 2019)
criteria provided, single submitter
13.
GRCh37:
Chr3:63898385
GRCh38:
Chr3:63912709
ATXN7, LOC108660406Q37HInborn genetic diseasesUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr3:63898390
GRCh38:
Chr3:63912714
LOC108660406, ATXN7Q39Pnot providedUncertain significance
(Jun 1, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr3:63898485
GRCh38:
Chr3:63912809
ATXN7S71AAbnormality of neuronal migrationBenign
(Oct 31, 2014)
no assertion criteria provided
16.
GRCh37:
Chr3:63898504
GRCh38:
Chr3:63912828
ATXN7T77RInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr3:63898547
GRCh38:
Chr3:63912871
ATXN7not specified, not providedBenign/Likely benignno assertion criteria provided
18.
GRCh37:
Chr3:63938063
GRCh38:
Chr3:63952387
ATXN7I135VInborn genetic diseasesUncertain significance
(May 9, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr3:63965629
GRCh38:
Chr3:63979953
ATXN7V180I, V35Inot specifiedLikely benign
(Sep 5, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr3:63965655
GRCh38:
Chr3:63979979
ATXN7F43L, F188LInborn genetic diseasesUncertain significance
(Dec 15, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr3:63965723
GRCh38:
Chr3:63980047
ATXN7V66A, V211AInborn genetic diseasesUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr3:63965725
GRCh38:
Chr3:63980049
ATXN7L67V, L212VInborn genetic diseasesUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr3:63965738
GRCh38:
Chr3:63980062
ATXN7S216L, S71LInborn genetic diseasesUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr3:63965781
GRCh38:
Chr3:63980105
ATXN7Q230H, Q85HInborn genetic diseasesUncertain significance
(Nov 12, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr3:63965830
GRCh38:
Chr3:63980154
ATXN7P102S, P247SInborn genetic diseasesUncertain significance
(Nov 30, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr3:63967872
GRCh38:
Chr3:63982196
ATXN7S110A, S255AInborn genetic diseasesUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr3:63967881
GRCh38:
Chr3:63982205
ATXN7V113M, V258MInborn genetic diseasesUncertain significance
(Jul 6, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr3:63967900
GRCh38:
Chr3:63982224
ATXN7K264R, K119Rnot specifiedLikely benignno assertion criteria provided
29.
GRCh37:
Chr3:63967953
GRCh38:
Chr3:63982277
ATXN7V282M, V137MAbnormality of neuronal migrationBenign
(Oct 31, 2014)
no assertion criteria provided
30.
GRCh37:
Chr3:63968089
GRCh38:
Chr3:63982413
ATXN7N182S, N327SInborn genetic diseasesUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr3:63968134
GRCh38:
Chr3:63982458
ATXN7not specified, not providedBenign/Likely benignno assertion criteria provided
32.
GRCh37:
Chr3:63973801
GRCh38:
Chr3:63988125
ATXN7E388K, E243KInborn genetic diseasesUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr3:63973859
GRCh38:
Chr3:63988183
ATXN7P407R, P262RInborn genetic diseasesUncertain significance
(May 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr3:63973927
GRCh38:
Chr3:63988251
ATXN7H285Y, H430YInborn genetic diseasesUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr3:63973987
GRCh38:
Chr3:63988311
ATXN7P305S, P450SInborn genetic diseasesUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr3:63975919
GRCh38:
Chr3:63990243
ATXN7P332S, P477SInborn genetic diseasesUncertain significance
(May 31, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr3:63976030
GRCh38:
Chr3:63990354
ATXN7H514Y, H369YInborn genetic diseasesUncertain significance
(Nov 15, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr3:63976447
GRCh38:
Chr3:63990771
ATXN7G532S, G387SSpinocerebellar ataxia 7Uncertain significance
(Apr 27, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr3:63976466
GRCh38:
Chr3:63990790
ATXN7S393C, S538CInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr3:63976491
GRCh38:
Chr3:63990815
ATXN7not providedUncertain significance
(Apr 1, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr3:63981335
GRCh38:
Chr3:63995659
ATXN7P468A, P613AInborn genetic diseasesUncertain significance
(Jul 20, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr3:63981383
GRCh38:
Chr3:63995707
ATXN7P484S, P629SInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr3:63981473
GRCh38:
Chr3:63995797
ATXN7L514F, L659FInborn genetic diseasesUncertain significance
(May 27, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr3:63981582
GRCh38:
Chr3:63995906
ATXN7A695V, A550VInborn genetic diseasesUncertain significance
(Jan 10, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr3:63981617
GRCh38:
Chr3:63995941
ATXN7R562S, R707STip-toe gaitLikely pathogenicno assertion criteria provided
46.
GRCh37:
Chr3:63981618
GRCh38:
Chr3:63995942
ATXN7R562H, R707HSpinocerebellar ataxia 7Uncertain significance
(May 3, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr3:63981635
GRCh38:
Chr3:63995959
ATXN7not specifiedLikely benignno assertion criteria provided
48.
GRCh37:
Chr3:63981651
GRCh38:
Chr3:63995975
ATXN7S573C, S718CInborn genetic diseasesUncertain significance
(Dec 28, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr3:63981668
GRCh38:
Chr3:63995992
ATXN7S579T, S724Tnot providedLikely benignno assertion criteria provided
50.
GRCh37:
Chr3:63981676
GRCh38:
Chr3:63996000
ATXN7not specifiedLikely benignno assertion criteria provided
51.
GRCh37:
Chr3:63981741-63981742
GRCh38:
Chr3:63996065-63996066
ATXN7T604fs, T749fsnot providedUncertain significance
(Dec 17, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr3:63981744
GRCh38:
Chr3:63996068
ATXN7T749M, T604MInborn genetic diseasesUncertain significance
(Sep 15, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr3:63981753
GRCh38:
Chr3:63996077
ATXN7S607C, S752CInborn genetic diseasesUncertain significance
(May 1, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr3:63981836
GRCh38:
Chr3:63996160
ATXN7P635S, P780SInborn genetic diseasesUncertain significance
(Nov 7, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr3:63981933
GRCh38:
Chr3:63996257
ATXN7N812T, N667TInborn genetic diseasesUncertain significance
(Dec 7, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr3:63981941
GRCh38:
Chr3:63996265
ATXN7P670S, P815SInborn genetic diseasesUncertain significance
(Jun 10, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr3:63981977
GRCh38:
Chr3:63996301
ATXN7T682A, T827Anot providedLikely benignno assertion criteria provided
58.
GRCh37:
Chr3:63981995
GRCh38:
Chr3:63996319
ATXN7I833V, I688VInborn genetic diseasesUncertain significance
(Aug 1, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr3:63982026
GRCh38:
Chr3:63996350
ATXN7S698L, S843LInborn genetic diseasesUncertain significance
(Feb 11, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr3:63982082
GRCh38:
Chr3:63996406
ATXN7V862M, V717Mnot specifiedLikely benignno assertion criteria provided
61.
GRCh37:
Chr3:63982151-63982153
GRCh38:
Chr3:63996475-63996477
ATXN7L740del, L885delSpinocerebellar ataxia 7Benign
(Nov 16, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr3:63985157
GRCh38:
Chr3:63999481
ATXN7S920Rnot specifiedLikely benign
(Jun 26, 2017)
criteria provided, single submitter
63.
GRCh37:
Chr3:63985174
GRCh38:
Chr3:63999498
ATXN7A926Vnot providedUncertain significance
(Jun 1, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr3:59332508-70686155
not providedPathogenic
(Mar 1, 2021)
no assertion criteria provided
65.
GRCh37:
Chr3:62206958-63944889
C3orf14, ATXN7, FEZF2, PTPRG, SNTN, THOC7, SYNPR, CADPSnot providedUncertain significance
(Jul 20, 2018)
no assertion criteria provided
66.
GRCh37:
Chr3:60449667-65561638
not providedPathogenic
(Apr 5, 2019)
no assertion criteria provided
67.
GRCh37:
Chr3:57076136-65716956
not providedPathogenic
(Nov 21, 2017)
no assertion criteria provided
68.
GRCh37:
Chr3:60844727-63983596
ATXN7, C3orf14, FEZF2, CADPS, FHIT, PTPRG, SNTN, SYNPR, THOC7not providedUncertain significance
(Sep 6, 2018)
no assertion criteria provided
69.
GRCh37:
Chr3:61495-197838262
ABHD10, POLR2H, TMEM108, PLS1, PPM1L, GHSR, RBM5, CCDC12, AMT, WDR82, TMEM43, LARS2, OSBPL11, HHLA2, MYH15, INKA1, CD200R1, C3orf22, NBEAL2, UBE2E1, NMNAT3, USP13, LSAMP, CPN2, CCDC14, PBRM1, ALG3, CCDC50, OPA1, SEC13, MIR570, TGFBR2, ATR, CAPN7, B3GALNT1, CMTM6, OR5K2, WDR53, SNORA63, PPARG, RETNLB, CPNE4, FOXP1-IT1, SCN11A, NCBP2, LZTFL1, TMEM44, RARRES1, PTX3, SNORA81, KAT2B, GOLGA4, MRAS, AP2M1, CDHR4, TIGIT, ZDHHC3, EPHB3, CFAP44, CEP97, PP2D1, PTH1R, GHRLOS, UBA5, MKRN2, NR1I2, SLC22A13, ALCAM, SLC35G2, RBP2, SEC22A, NEK11, SHOX2, TMEM212, TSEN2, NDUFAF3, SLC25A20, MB21D2, PRR23C, ASB14, VPS8, SATB1, RTP4, CNTN3, ACOX2, TOPAZ1, CAMKV, BCL6, ACAA1, ARF4, CACNA1D, ZNF501, GABRR3, LEKR1, DYNC1LI1, ENTPD3, IQCJ, NDUFB4, DHX36, KLHL40, SPSB4, GNL3, NFKBIZ, TXNRD3, GMNC, PTPRG, FBXO40, CIDEC, IQSEC1, ZNF197, KCTD6, PCCB, PCBP4, LRRFIP2, ARL14, LRRC2, DNAH12, IGSF11, SELENOT, USP19, RAB43, OR5K4, DENND6A, TNFSF10, PRSS50, C3orf14, NEK10, DYNLT2B, ANO10, ITGA9, RTP1, CLEC3B, U2SURP, PRR23B, ECE2, GPR15, ROBO2, IQCF6, FGD5, TOPBP1, CELSR3, H1-10, FAM131A, KALRN, IQCF3, H1-8, SLC12A8, DTX3L, ZCWPW2, NLGN1, TIMMDC1, SETD2, FILIP1L, OR5K3, SEMA3B, PRICKLE2, FBLN2, IQCF5, SLC51A, COLQ, VGLL4, GPR149, STAB1, CTNNB1, IL1RAP, FOXL2NB, ZPLD1, AGTR1, ST6GAL1, TIMP4, LRRC15, PDCD10, ZBED2, ERC2, HTR3E, BHLHE40, POU1F1, BFSP2, NPRL2, MLH1, SRGAP3, CHST13, AMIGO3, P2RY12, CSRNP1, TMA7, UBXN7, TMEM89, ARPC4-TTLL3, CAND2, CLRN1, PLCH1, SPTSSB, MITF, MUC4, FRG2C, FAIM, TMPRSS7, HACD2, ESYT3, DNAH1, RPL39L, SERP1, VEPH1, TRAT1, CRBN, GYG1, SHQ1, ABHD14A, ATP2B2, CRYGS, CSTA, CCR3, BBX, COX17, TMF1, ABTB1, MAGI1, GMPS, CDCP1, ILDR1, RABL3, IQCF1, PEX5L, ROPN1, DPH3, ADGRG7, VWA5B2, PYDC2, ZNF445, SETD5, OR5K1, TMEM42, SMCO1, CADM2, HTR3D, ATXN7, ZNF852, PLXNA1, OXSR1, KLHL24, CLDN18, CD200, GATA2, CNOT10, HEG1, XYLB, EOMES, SCN10A, ZNF660, DBR1, ADIPOQ, ATP1B3, ZNF619, USF3, CD47, FAM3D, GNAI2, P4HTM, THOC7, EHHADH, TMEM40, CMSS1, SPICE1, ANKUB1, PSMD6, IGF2BP2, ARPC4, SRPRB, WDR49, IL17RB, DLEC1, IFRD2, TMEM45A, DHX30, IFT80, CCK, MASP1, CHCHD4, TOMM70, PRKCD, OSBPL10, TRANK1, GPR160, IL5RA, LRTM1, SPCS1, OR5H15, TMEM115, PCOLCE2, OSTN, GUCA1C, OR5AC2, DNAJC19, RPL14, ZNF80, SLC41A3, GPR171, HES1, C3orf80, CFAP20DC, DHFR2, UBA7, ZNF621, CAMP, CCDC174, SSUH2, XIRP1, SAMD7, PPM1M, KCNMB3, POC1A, MANF, CLCN2, CD86, IQCJ-SCHIP1, FANCD2OS, CHMP2B, FOXP1, MCF2L2, EPHB1, TRA2B, ZDHHC19, TMEM158, SLC35A5, RNF123, FGF12, CDV3, BDH1, ATP13A5, ESRG, GRM2, DZIP3, PIK3CA, GLT8D1, CAMK1, SYNPR, TERC, RBM6, EPHA6, RAB6B, SH3BP5, ZNF35, HLTF, BRK1, WNT5A, SLC6A6, UQCC5, GPD1L, TWF2, ALAS1, TRAK1, MIR191, TBC1D23, OXNAD1, SS18L2, CP, ATP6V1A, SPATA12, SLC25A36, GPR27, PFN2, ARL13B, PXK, MRPS22, NXPE3, ACKR4, GBE1, ITIH3, CHL1, KLHDC8B, EPM2AIP1, EFHB, STX19, TTC14, RTP2, CBLB, NECTIN3-AS1, RPUSD3, KRBOX1, CASR, TTLL3, ACY1, XPC, RPL29, JAGN1, CRELD1, KLF15, SLMAP, ACP3, USP4, POPDC2, RYK, CLDND1, TMPPE, TRIM71, SENP7, ANAPC13, RFC4, HTR3C, KLHL18, ATG3, SMARCC1, HEMK1, CHST2, MIR1224, NAA50, RFTN1, ABCF3, GASK1A, TFRC, CD80, IL17RC, TMEM41A, GLYCTK, CFAP91, PARP9, GRK7, GRIP2, HCLS1, CTDSPL, TPRA1, RHOA, COL6A6, GMPPB, TKT, PIK3CB, MELTF, FYTTD1, ADAMTS9, RBMS3, PLCXD2, GAP43, OXSM, ATG7, CCDC191, ROBO1, SLC9C1, MIX23, FOXL2, CRTAP, SLC6A20, SELENOK, ZBTB11, ITIH4, UROC1, CMTM7, ETV5, LNP1, DCUN1D1, EIF4A2, SEMA5B, PRKCI, MBNL1, MAP4, LSMEM2, FHIT, NISCH, CLASP2, EXOSC7, EIF4G1, NGLY1, RPN1, RAP2B, CACNA2D3, ACAD9, AMOTL2, HACL1, ITPR1, EPHA3, RPL24, CCNL1, C3orf84, CEP63, RARB, MIR138-1, ARIH2, ABHD14B, CNTN4, GPX1, EMC3, KIF9, ZDHHC23, TNNC1, PAQR9, COL6A5, TASOR, GFM1, RPP14, ZKSCAN7, OR5H6, ZNF385D, P2RY14, LRRC31, COL8A1, PAK2, KPNA4, FGD5-AS1, DAG1, NKTR, BCHE, ACTRT3, EDEM1, C3orf18, CCDC66, LINC00312, DNAJC13, SUMF1, SACM1L, CAV3, P2RY13, PCYT1A, P3H2, SERPINI1, SKIL, MON1A, NMD3, SLC4A7, PXYLP1, MINDY4B, TM4SF4, NCEH1, GSK3B, ASTE1, SST, CCR9, THPO, CIP2A, QARS1, PPP2R3A, STT3B, RPSA, TRNT1, NME6, SLC2A2, EGOT, SLC25A38, ARL8B, SEMA3G, QTRT2, CRYBG3, TAFA1, MST1R, SLC6A11, EBLN2, EFCC1, IMPG2, SENP2, SYN2, KCNMB2, MIR26A1, HMCES, XCR1, RRP9, DPPA2, HSPBAP1, LIPH, DRD3, MFSD1, DCLK3, TCAIM, CHDH, PRRT3, FYCO1, CYB561D2, DAZL, PLSCR2, SNORA62, GORASP1, CGGBP1, SEMA3F-AS1, LYZL4, RPL35A, CDC25A, CMC1, LRRN1, TRPC1, KCNH8, KRBOX1-AS1, C3orf62, SCAP, TBL1XR1, ZNF662, NSUN3, MYD88, TF, RYBP, DVL3, HGD, XXYLT1, LAMP3, CNBP, SSR3, TNK2, C3orf20, MIRLET7G, ZBTB38, IGSF11-AS1, SUCNR1, CFAP100, MIR28, WDR6, TIPARP, C3orf33, UTS2B, ARL6, BSN, FAM162A, NT5DC2, IQCG, ZBTB20, P2RY1, PHC3, KIF15, ABI3BP, STAC, SOX2, ALS2CL, LPP, CHRD, DCP1A, PLSCR5, TRIM59, BAP1, EIF2A, EOGT, ABHD5, GALNT15, VGLL3, SHISA5, DALRD3, GOLGB1, GLB1, ZBTB47, FXR1, COPG1, NME9, SI, RSRC1, TM4SF19, CEP70, IQCF2, BOC, HRG, CPNE9, PTPN23, MTMR14, LSG1, TRIM42, PDCD6IP, ACAP2, SNTN, IL17RE, LRRC58, TSC22D2, OR5H1, RPL22L1, EFCAB12, ACAD11, IMPDH2, PHF7, NAA80, HTR1F, TMEM39A, UPK1B, FNDC3B, EAF2, ISY1-RAB43, GTPBP8, ZNF639, ADCY5, NPHP3, DIPK2A, OGG1, PROK2, KBTBD8, NR1D2, LINC01565, CPB1, ACVR2B, ZMYND10, SUCLG2, DCAF1, TUSC2, THUMPD3, TOP2B, PLSCR4, CCR5, DOCK3, FAM107A, SLC6A1, ST3GAL6, KLHL6, KCNAB1, DUSP7, SPATA16, TBCCD1, EIF2B5, IFT122, RPL32, CCDC71, IQCB1, ACTL6A, GPR156, ANKRD28, NKIRAS1, SLC33A1, CCR8, PARL, SCN5A, CYP8B1, PLCD1, MYL3, CAMK2N2, UBE2E2, HYAL1, OXTR, ZXDC, TM4SF1, HYAL3, NDUFB5, LRIG1, UMPS, SCHIP1, HESX1, APEH, ZMAT3, APPL1, PPP1R2, MAP3K13, CPOX, OTOL1, CLDN1, LMOD3, UBP1, TMEM207, PDZRN3, SMC4, POGLUT1, KIAA1143, C3orf52, EIF4E3, SEMA3F, TRAIP, ARL6IP5, PSMD2, SNX4, KNG1, TRMT10C, EXOG, RBM15B, GCSAM, AZI2, CEP19, TFDP2, SERPINI2, TTC21A, PRKAR2A, ERICH6, ATRIP, CCDC51, NICN1, SEC61A1, PDIA5, ATP13A4, ZNF860, NRROS, ARPP21, WDR5B, CISH, RHO, C3orf38, HDAC11, EEFSEC, TDGF1, CD200R1L, MST1, ARHGAP31, AHSG, MOBP, DNASE1L3, ITGB5, VILL, PCNP, ARGFX, MUC20, LMLN, TREX1, RAB7A, STAG1, GRM7, MBD4, GHRL, FBXW12, ABHD6, LRRC3B, ACKR2, RAB5A, LRRIQ4, ISY1, SLCO2A1, DCBLD2, SENP5, STIMATE-MUSTN1, SNRK, PLSCR1, TNK2-AS1, KBTBD12, BTD, ZNF620, MED12L, PODXL2, FBXO45, TCTA, MRPL47, WWTR1, CCDC39, SLC26A6, LTF, COMMD2, SIAH2, CHCHD6, FAM43A, MORC1-AS1, MYNN, RAD54L2, RASA2, SPINK8, NCK1, MSL2, HHATL, ZNF717, COPB2, NCKIPSD, MRPL3, VHL, PLCL2, SOX2-OT, NAALADL2, FETUB, PLXND1, PLAAT1, UBA3, RAD18, TAMM41, METTL6, ECT2, THRB, RBP1, NEPRO, DNAJB8, NIT2, ALDH1L1, CX3CR1, SFMBT1, MLF1, PRR23A, WDR48, ZNF589, PIK3R4, GXYLT2, BTLA, OR5H14, RNF13, ACTR8, HIGD1A, ALG1L2, GNAT1, KY, CCRL2, CXCR6, SETMAR, STIMATE, PRR23E, RNF7, CFAP92, TM4SF18, PLA1A, RIOX2, DGKG, MYRIP, CMTM8, GK5, ZNF148, POLQ, SEC22C, CCR1, MAPKAPK3, POMGNT2, TP63, IP6K2, MORC1, SLC7A14, CPA3, CLDN11, MCCC1, PROS1, B4GALT4, NUP210, CSPG5, ABCC5, ITIH1, ZNF654, GRAMD1C, FSTL1, ELP6, TEX264, TMCC1, PFKFB4, PLXNB1, RFT1, RTP3, CCDC54, RUVBL1, KPNA1, IHO1, GPR62, FLNB, ZBBX, COL7A1, DZIP1L, ATP13A3, FEZF2, LIMD1, C3orf36, EIF1B, IFT57, PLOD2, MIR128-2, ARMC8, LRRC34, PIGX, CADPS, DLG1, PIGZ, CCR4, LRCH3, MME, LINC02877, VIPR1, XRN1, RBSN, TBC1D5, ADPRH, ATP11B, ARHGEF3, SLC49A4, ROPN1B, DPPA4, TADA3, PHLDB2, AADACL2, DNAJB11, RUBCN, GOLIM4, APOD, MCM2, FANCD2, RPL15, GP9, TMIE, YEATS2, PDE12, HYAL2, QRICH1, CLSTN2, RNF168, SLC9A9, AADAC, TFG, EAF1, MAGEF1, SLC22A14, RASSF1, SLC15A2, UQCRC1, MGLL, CNTN6, CLDN16, FRMD4B, APRG1, STXBP5L, IL20RB, C3orf70, PLD1, TXNRD3NB, ZNF502, SIDT1, CD96, LHFPL4, RAF1, IP6K1, NECTIN3, TATDN2, ULK4, ZIC4, NEK4, ARIH2OS, PARP3, NUDT16, PARP14, GADL1, MUSTN1, NPCDR1, SOX14, MAP6D1, ATP2C1, TAGLN3, GNB4, PDHB, SUSD5, TEX55, FBXL2, LAMB2, CCDC13, MRPS25, HPS3, BRPF1, MECOM, GP5, LSM3, SGO1, WNT7A, UCN2, GTF2E1, TNIK, MYLK, GPR87, PPP4R2, HRH1, MUC13, TPRG1, MFN1, NR2C2, B3GNT5, SEC62, TGM4, LMCD1, IL12A, TAFA4, IGSF10, SLITRK3, ZIC1, CCR2, TRH, IL17RD, CCDC80, A4GNT, PARP15, ARHGEF26, OR5H2, LXN, SLC38A3, CACNA2D2, IRAK2, TLR9, EIF5A2
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
70.
GRCh37:
Chr3:60174-197948027
GORASP1, CP, ATG3, GLT8D1, GK5, P2RY13, SERPINI2, MYLK, LAMB2, GHRLOS, CACNA2D2, DALRD3, EIF4G1, ITGB5, CRBN, RFTN1, IFT80, PAQR9, RPL29, ATP13A3, DIPK2A, OR5K2, TMEM44, IQCF3, IMPG2, SCAP, SNORA62, MYRIP, PPP1R2, GPD1L, MIR28, TGM4, TAFA1, SEC22C, ATP1B3, ABHD14A, MIX23, MIRLET7G, MUC4, PLXNA1, SPCS1, SS18L2, UBXN7, ESYT3, FGD5, IQCG, ACTRT3, CELSR3, IGSF11-AS1, DAZL, CMTM8, CCDC51, PROS1, SEMA3F-AS1, PSMD6, CSTA, GNAI2, GAP43, FBLN2, SENP2, HGD, SGO1, WDR53, VEPH1, CRYGS, IQSEC1, COL6A5, C3orf84, TM4SF4, ADCY5, PFKFB4, TMCC1, DCAF1, TADA3, ELP6, EPM2AIP1, PDHB, RPL32, SLMAP, ITIH3, COPG1, RAF1, BRPF1, CCR8, TBL1XR1, SLC9A9, DPPA2, ZMAT3, ISY1, ADGRG7, SUSD5, TEX264, EIF1B, FGD5-AS1, CAMKV, ASB14, MYL3, ATP13A4, CLASP2, EHHADH, ZNF662, ARHGAP31, FBXO45, RBM5, HSPBAP1, LINC00312, RPSA, MGLL, POLQ, ALCAM, FSTL1, SETD2, EXOSC7, THOC7, GPR62, CD200, ANKRD28, NEPRO, VWA5B2, FOXL2, IQCF6, OXNAD1, PPM1M, HYAL3, CDC25A, OR5AC2, ATP2C1, SMARCC1, CD96, COL8A1, XRN1, GASK1A, GPR156, P2RY1, AADACL2, ITGA9, SOX14, C3orf20, RPUSD3, CHDH, FAM107A, TIGIT, ALG1L2, ALS2CL, TATDN2, CCRL2, HRH1, DGKG, ARL14, SHISA5, KLHL18, FANCD2OS, EFCC1, ARPP21, CAMK1, ABCF3, LRIG1, YEATS2, HPS3, BRK1, TEX55, KCNH8, ACAD9, GBE1, POPDC2, LRRC34, PIGX, MASP1, KRBOX1-AS1, NPRL2, IL17RB, COL6A6, XXYLT1, POU1F1, METTL6, RNF13, HACL1, NR1D2, ZNF148, XCR1, TBC1D23, SLC6A20, ACAA1, CLDND1, PPM1L, NAA50, TMIE, A4GNT, NISCH, CTDSPL, TMEM108, GPR27, RPL35A, KPNA1, LTF, TBCCD1, CBLB, FILIP1L, HTR1F, RNF7, BAP1, RPL15, HMCES, PYDC2, LRTM1, TXNRD3NB, WDR5B, FLNB, ARL13B, ST3GAL6, APEH, PLSCR5, WDR48, SPATA12, NEK4, SH3BP5, CPA3, HEMK1, RABL3, STIMATE, PLCL2, DCBLD2, SERPINI1, PIK3CB, TPRA1, PHLDB2, TMEM43, UBA3, DVL3, BSN, CNTN3, PLSCR4, PTPRG, CD86, CACNA1D, CCR3, EFHB, THRB, MYH15, PRSS50, DZIP3, TREX1, LRRC3B, EOMES, H1-10, ZNF35, PARP14, CAMP, COL7A1, GALNT15, GTPBP8, CEP70, SLC15A2, DHX30, KIF9, HESX1, EOGT, RAD54L2, PTPN23, WNT5A, CCR5, MBD4, MKRN2, IMPDH2, LINC01565, KALRN, CHL1, CFAP92, OR5K1, ZIC1, ZNF660, PDCD6IP, GPR149, ZBBX, OR5K4, SI, UBA7, NT5DC2, AZI2, ZXDC, OSTN, RBM15B, KCNMB3, TCAIM, NPCDR1, ZBED2, LEKR1, MME, TTLL3, RPP14, HES1, AMIGO3, MFN1, PPARG, VHL, OR5H14, SNRK, EIF4A2, CPOX, ECE2, MAPKAPK3, SOX2, CPNE4, DZIP1L, TIMMDC1, STAC, CCDC66, PDIA5, MON1A, USF3, NUDT16, SRGAP3, ZCWPW2, PIK3R4, MRPS25, ZNF197, IQCF2, SLC38A3, MFSD1, PHF7, XPC, PLS1, MYD88, RARRES1, EBLN2, RARB, GPR15, ALAS1, TIMP4, WNT7A, GOLGB1, ATP11B, COX17, POMGNT2, MLH1, TRAIP, IGSF10, RBM6, GFM1, FNDC3B, DNAJB8, ABTB1, PLXNB1, CLDN18, SATB1, RBMS3, GLB1, IRAK2, ARMC8, LIPH, SLCO2A1, VGLL3, QARS1, ABI3BP, OSBPL11, CNTN6, DAG1, NDUFB4, ROBO1, KCNMB2, CMC1, GMNC, ARIH2OS, NEK10, ECT2, CRTAP, USP13, ADIPOQ, NECTIN3, RUVBL1, HYAL1, MLF1, DNAH1, CD80, NICN1, NCK1, IP6K1, CD200R1L, PCOLCE2, AMOTL2, PAK2, POC1A, TTC14, DNAJB11, DHFR2, SPATA16, P3H2, ATP2B2, LPP, SELENOT, SHOX2, SENP5, ERICH6, TSC22D2, SUCNR1, CCDC80, ERC2, AMT, TOPBP1, CADM2, RNF168, MIR570, NKIRAS1, FBXW12, GMPS, HACD2, C3orf80, OXSR1, ACAP2, GHSR, KLHL6, GRM7, TOP2B, CDV3, SEMA3G, PDCD10, CYB561D2, ACTR8, APPL1, OR5H6, DCP1A, APRG1, ARL6IP5, MCCC1, CCDC54, SLC49A4, OXTR, ENTPD3, ARGFX, MIR128-2, CCK, MORC1-AS1, DLG1, TSEN2, PCCB, GNL3, CLDN1, HCLS1, TNIK, ISY1-RAB43, FRG2C, EIF2A, TM4SF18, MUC13, ZNF860, VIPR1, FAM3D, PEX5L, IHO1, LINC02877, GYG1, MAP3K13, RTP3, LNP1, DYNLT2B, LZTFL1, TTC21A, SNORA63, STIMATE-MUSTN1, MAGI1, SEC13, TDGF1, PARL, SERP1, TF, NMD3, AHSG, MAP6D1, SEC22A, ATP13A5, IL17RD, PDE12, GPR87, DPPA4, NME9, GNAT1, BHLHE40, RPL39L, ADAMTS9, MELTF, ZNF80, CADPS, SLC4A7, PRR23A, CHST13, PLA1A, CXCR6, UCN2, BBX, RFC4, FOXP1-IT1, ROPN1, TMEM39A, PRRT3, NSUN3, ZKSCAN7, CASR, SUMF1, SCN11A, DPH3, PODXL2, ZBTB20, MTMR14, ACY1, GCSAM, FEZF2, NBEAL2, IL20RB, LAMP3, DNAH12, RASA2, SLC25A20, ZNF501, GPX1, PLCH1, SETMAR, OXSM, ZDHHC3, RAD18, FETUB, SAMD7, FRMD4B, AGTR1, ADPRH, GABRR3, MRPL3, HRG, ZNF717, DRD3, RBP2, SLC9C1, TFRC, CPNE9, MUC20, DUSP7, TNK2, TRIM71, TBC1D5, CAMK2N2, UBP1, DYNC1LI1, SLC12A8, PIK3CA, CCDC14, AADAC, GSK3B, ROBO2, TNNC1, RHO, EIF5A2, PTX3, RIOX2, ANAPC13, PXK, NR1I2, SLC22A13, EAF2, ZPLD1, SPINK8, UROC1, XYLB, MST1, TAGLN3, DNASE1L3, FYTTD1, FXR1, SHQ1, CHCHD6, WDR6, P4HTM, C3orf22, DOCK3, NFKBIZ, TASOR, ZNF502, SLC25A36, P2RY14, TLR9, ITIH4, KLHDC8B, KNG1, ULK4, ACP3, ZBTB38, GXYLT2, THUMPD3, FAM162A, IFRD2, PDZRN3, ACVR2B, PRR23B, RFT1, SEMA3B, FBXO40, TMEM89, GADL1, NUP210, SEMA3F, GATA2, SLC41A3, NMNAT3, GRK7, STX19, CX3CR1, COLQ, LRRC2, SETD5, PIGZ, CD200R1, CPN2, CDHR4, DNAJC13, MYNN, RAP2B, GNB4, ZNF445, RTP4, CNBP, MIR26A1, KCNAB1, NCKIPSD, RUBCN, TOPAZ1, KIAA1143, C3orf36, UQCC5, SIAH2, CACNA2D3, FAIM, U2SURP, ARHGEF26, SLC6A1, SLC35G2, MITF, B3GALNT1, LSAMP, SEC62, ARPC4, SYN2, UBE2E1, MST1R, TRIM59, RPN1, CHST2, GHRL, EFCAB12, HDAC11, MSL2, CCDC191, NAALADL2, ROPN1B, LHFPL4, MRPL47, POGLUT1, CCDC50, ITPR1, MBNL1, CRELD1, MAP4, SLC6A11, EIF2B5, PRKAR2A, RASSF1, PLOD2, SST, SMCO1, CLRN1, PLD1, CCDC39, ZBTB11, IQCB1, FYCO1, TP63, BTLA, CCDC174, MECOM, RPL22L1, IGF2BP2, KBTBD12, HHLA2, SSUH2, SEC61A1, SLC25A38, LARS2, SCN5A, SYNPR, LIMD1, CCNL1, CTNNB1, CPB1, FBXL2, ZNF639, TRIM42, KIF15, RAB43, PPP4R2, OR5H1, SLC33A1, SNTN, VILL, PFN2, ZDHHC23, ZNF620, VGLL4, C3orf14, CEP19, KRBOX1, ATP6V1A, EGOT, PROK2, CMTM7, CISH, SEMA5B, PRICKLE2, GRIP2, CLDN11, NPHP3, C3orf33, IL12A, EXOG, PBRM1, ETV5, SNORA81, RTP2, TMEM45A, TMPRSS7, CGGBP1, CMSS1, RBSN, BCHE, PLCXD2, WDR82, ITIH1, NCEH1, ZNF852, ARIH2, MORC1, OR5H2, KLHL24, SENP7, TOMM70, CCDC13, PRKCI, OR5K3, NKTR, EPHA6, TRH, FOXP1, SLC51A, MIR138-1, ACKR4, MINDY4B, CCR1, NAA80, ARF4, LRRC58, TRAK1, IGSF11, SLC26A6, TMEM207, ANKUB1, TKT, EAF1, LRRC31, CAPN7, HYAL2, RETNLB, LMOD3, TM4SF19, RAB7A, ACOX2, SPICE1, NEK11, UBE2E2, NCBP2, NECTIN3-AS1, FAM43A, CSRNP1, UTS2B, TFDP2, MIR1224, ABHD14B, CCR9, TMEM158, SPTSSB, CFAP20DC, EMC3, C3orf62, KCTD6, PARP9, PLSCR2, CD47, SIDT1, BCL6, EIF4E3, GOLIM4, TAMM41, LRRC15, ABHD10, OR5H15, TXNRD3, RTP1, GRM2, IQCJ, ZNF619, BDH1, ESRG, TRMT10C, RAB6B, TMF1, C3orf38, ACTL6A, RBP1, GPR160, NXPE3, ATR, DLEC1, IL17RC, COMMD2, EPHB1, NGLY1, LRRN1, CRYBG3, TRNT1, LXN, SOX2-OT, UQCRC1, TNFSF10, CHRD, EEFSEC, FAM157A, OTOL1, LSM3, B4GALT4, ABHD5, SUCLG2, TMEM42, NDUFB5, B3GNT5, CCDC71, APOD, CCDC12, MUSTN1, SMC4, ZDHHC19, THPO, STAG1, IFT122, ARL8B, CNOT10, CHCHD4, ZNF589, LMLN, POLR2H, CFAP91, CCR2, ZNF654, ARL6, TIPARP, PLXND1, RYBP, SLC22A14, CAND2, GOLGA4, COPB2, PCYT1A, RPL14, CMTM6, EDEM1, BFSP2, TGFBR2, MB21D2, SELENOK, IQCF1, KPNA4, ST6GAL1, IP6K2, TCTA, SLC7A14, JAGN1, HTR3E, IL1RAP, PXYLP1, ATRIP, CFAP44, CSPG5, TWF2, IFT57, PCNP, QRICH1, SSR3, PHC3, VPS8, TERC, STT3B, MCF2L2, PRR23C, CDCP1, ALG3, ZNF621, AP2M1, EPHB3, GLYCTK, TRAT1, KLF15, FAM131A, OSBPL10, TAFA4, SACM1L, ATXN7, GTF2E1, SCN10A, TUSC2, KAT2B, NME6, TMEM212, DNAJC19, ZMYND10, ABCC5, GMPPB, RRP9, TPRG1, USP4, SLC2A2, CLSTN2, NRROS, SNX4, TMEM115, STXBP5L, TNK2-AS1, SLC6A6, STAB1, KY, ACKR2, CCR4, DHX36, ASTE1, KLHL40, HEG1, P2RY12, UMPS, PSMD2, CAV3, TM4SF1, NLGN1, XIRP1, ILDR1, FHIT, EPHA3, C3orf18, GRAMD1C, ARHGEF3, PARP15, RHOA, ZBTB47, SRPRB, ZNF385D, DTX3L, TRA2B, DENND6A, PPP2R3A, UBA5, PRKCD, MAGEF1, RPL24, DCLK3, PARP3, SFMBT1, SKIL, HLTF, ATG7, WWTR1, OPA1, PLCD1, FGF12, TRPC1, QTRT2, CLDN16, CFAP100, GP5, LSMEM2, NIT2, TMEM40, H1-8, ANO10, CHMP2B, WDR49, ALDH1L1, GPR171, MRAS, BOC, LRCH3, CLCN2, MOBP, FANCD2, RNF123, INKA1, IL5RA, IQCJ-SCHIP1, FOXL2NB, PLAAT1, DBR1, OGG1, CIP2A, HHATL, LMCD1, TMA7, HTR3D, CLEC3B, PLSCR1, UPK1B, PRR23E, MRPS22, SLITRK3, RYK, C3orf70, HIGD1A, NDUFAF3, RAB5A, TFG, PCBP4, ACAD11, LYZL4, MANF, MIR191, ARPC4-TTLL3, PP2D1, ZIC4, IQCF5, RSRC1, MED12L, USP19, SCHIP1, MCM2, DCUN1D1, CYP8B1, TMPPE, CIDEC, GP9, BTD, LRRFIP2, HTR3C, TRANK1, GUCA1C, ABHD6, SLC35A5, PTH1R, C3orf52, LRRIQ4, TMEM41A, LSG1, SPSB4, IL17RE, KBTBD8, NR2C2, CEP63, CEP97, CNTN4
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
71.
GRCh37:
Chr3:61892-197851986
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, 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, 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, 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, MLF1, MIR570, MIRLET7G, MITF, MIX23, MKRN2, 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, NPCDR1, 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, TDGF1, 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, C3orf14, C3orf18, C3orf20, C3orf22, C3orf33
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
72.
GRCh37:
Chr3:61892-197851986
BRK1, BRPF1, BSN, BTD, BTLA, C3orf14, 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, 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, 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, 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, NPCDR1, 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, 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, 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, TDGF1, 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
73.
ATXN7Spinocerebellar ataxia 7Pathogenic
(Sep 1, 1997)
no assertion criteria provided
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