S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 75

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
BCHEDeficiency of butyrylcholine esterasePathogenic
(Nov 1, 2007)
no assertion criteria provided
2.
BCHEDeficiency of butyrylcholine esterase, BCHE*FS126Pathogenic, Affects
(Apr 20, 2016)
no assertion criteria provided
3.
BCHEDeficiency of butyrylcholine esterasePathogenic
(Dec 15, 1991)
no assertion criteria provided
4.
BCHEBche johannesburgPathogenic
(Jul 1, 2010)
no assertion criteria provided
5.
BCHEBche cynthianaPathogenic
(Jul 1, 2010)
no assertion criteria provided
6.
BCHEBche newfoundlandPathogenic
(May 1, 1981)
no assertion criteria provided
7.
BCHEBche, h variant, Bche, quantitative h variantPathogenic
(Oct 1, 1992)
no assertion criteria provided
8.
GRCh37:
Chr3:165490770
GRCh38:
Chr3:165772982
BCHEDeficiency of butyrylcholine esteraseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr3:165490877
GRCh38:
Chr3:165773089
BCHEDeficiency of butyrylcholine esteraseGMAF:0.11200(-)Benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr3:165490885
GRCh38:
Chr3:165773097
BCHEDeficiency of butyrylcholine esteraseGMAF:0.00020(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr3:165490933
GRCh38:
Chr3:165773145
BCHEDeficiency of butyrylcholine esteraseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr3:165490981
GRCh38:
Chr3:165773193
BCHEDeficiency of butyrylcholine esteraseGMAF:0.35220(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr3:165490990
GRCh38:
Chr3:165773202
BCHEDeficiency of butyrylcholine esteraseGMAF:0.01860(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr3:165490996
GRCh38:
Chr3:165773208
BCHEDeficiency of butyrylcholine esteraseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr3:165491031
GRCh38:
Chr3:165773243
BCHEDeficiency of butyrylcholine esteraseGMAF:0.00680(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr3:165491118
GRCh38:
Chr3:165773330
BCHEDeficiency of butyrylcholine esteraseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr3:165491209
GRCh38:
Chr3:165773421
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00013(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr3:165491243
GRCh38:
Chr3:165773455
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00002(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr3:165491280
GRCh38:
Chr3:165773492
BCHEDeficiency of butyrylcholine esterase, Butyrylcholinesterase activityGO-ESP:0.19766(T)
GMAF:0.15860(T)
GO-ESP:0.18912(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr3:165491296
GRCh38:
Chr3:165773508
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00001(C)Likely pathogenic
(Feb 12, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr3:165491302
GRCh38:
Chr3:165773514
BCHEnot providedUncertain significance
(Nov 8, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr3:165503932
GRCh38:
Chr3:165786144
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Feb 12, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr3:165504041
GRCh38:
Chr3:165786253
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Aug 12, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr3:165504043
GRCh38:
Chr3:165786255
BCHEBche, j variant, Bche, quantitative j variantGO-ESP:0.00002(A)Pathogenic
(May 1, 1992)
no assertion criteria provided
25.
GRCh37:
Chr3:165504089
GRCh38:
Chr3:165786301
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Feb 8, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr3:165504105
GRCh38:
Chr3:165786317
BCHEDeficiency of butyrylcholine esteraseGMAF:0.00400(C)
GO-ESP:0.00180(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr3:165547304
GRCh38:
Chr3:165829516
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Sep 7, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr3:165547384
GRCh38:
Chr3:165829596
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00002(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr3:165547492
GRCh38:
Chr3:165829704
BCHESuxamethonium sensitivityGMAF:0.00020(T)
GO-ESP:0.00003(T)
Uncertain significance
(Dec 4, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr3:165547495
GRCh38:
Chr3:165829707
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00018(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr3:165547538
GRCh38:
Chr3:165829750
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Jun 7, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr3:165547569
GRCh38:
Chr3:165829781
BCHEDeficiency of butyrylcholine esterase, BCHE, fluoride 2GO-ESP:0.00361(A)
GMAF:0.00200(A)
GO-ESP:0.00302(A)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr3:165547582
GRCh38:
Chr3:165829794
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Oct 3, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr3:165547639
GRCh38:
Chr3:165829851
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Sep 7, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr3:165547644
GRCh38:
Chr3:165829856
BCHEDeficiency of butyrylcholine esteraseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr3:165547685
GRCh38:
Chr3:165829897
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00003(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr3:165547745
GRCh38:
Chr3:165829957
BCHEDeficiency of butyrylcholine esteraseGMAF:0.00180(A)
GO-ESP:0.00206(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr3:165547749
GRCh38:
Chr3:165829961
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Feb 2, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr3:165547750
GRCh38:
Chr3:165829962
BCHEButyrylcholinesterase deficiency, fluoride-resistant, japanese typeGMAF:0.00020(T)
GO-ESP:0.00006(T)
Pathogenic
(Nov 17, 1997)
no assertion criteria provided
40.
GRCh37:
Chr3:165547795
GRCh38:
Chr3:165830007
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Jan 5, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr3:165547807
GRCh38:
Chr3:165830019
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Sep 23, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr3:165547818
GRCh38:
Chr3:165830030
BCHEDeficiency of butyrylcholine esteraseGMAF:0.00180(G)
GO-ESP:0.00033(G)
Pathogenic
(Jul 1, 2006)
no assertion criteria provided
43.
GRCh37:
Chr3:165547927
GRCh38:
Chr3:165830139
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00001(A)Likely pathogenic
(Jan 18, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr3:165547973
GRCh38:
Chr3:165830185
BCHEnot specifiedGMAF:0.02280(G)
GO-ESP:0.01573(G)
Likely benigncriteria provided, single submitter
45.
GRCh37:
Chr3:165548010
GRCh38:
Chr3:165830222
BCHEButyrylcholinesterase deficiency, fluoride 1GO-ESP:0.00069(A)
GMAF:0.00040(A)
GO-ESP:0.00039(A)
Pathogenic
(Oct 1, 1992)
no assertion criteria provided
46.
GRCh37:
Chr3:165548029
GRCh38:
Chr3:165830241
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00003(-)Likely pathogenic
(Jan 25, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr3:165548065
GRCh38:
Chr3:165830277
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00001(A)Likely pathogenic
(Sep 30, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr3:165548155-165548156
GRCh38:
Chr3:165830367-165830368
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00001(-)Likely pathogenic
(Dec 9, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr3:165548187
GRCh38:
Chr3:165830399
BCHEDeficiency of butyrylcholine esteraseGMAF:0.00100(A)
GO-ESP:0.00187(A)
Likely pathogenic
(Apr 28, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr3:165548203
GRCh38:
Chr3:165830415
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Sep 5, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr3:165548313
GRCh38:
Chr3:165830525
BCHEDeficiency of butyrylcholine esteraseGMAF:0.00020(G)
GO-ESP:0.00019(G)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr3:165548324-165548327
GRCh38:
Chr3:165830536-165830539
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00001(-)Likely pathogenic
(Feb 22, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr3:165548329
GRCh38:
Chr3:165830541
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Mar 29, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr3:165548355
GRCh38:
Chr3:165830567
BCHEDeficiency of butyrylcholine esterasePathogenic
(Nov 1, 1997)
no assertion criteria provided
55.
GRCh37:
Chr3:165548383
GRCh38:
Chr3:165830595
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Jun 28, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr3:165548386-165548387
GRCh38:
Chr3:165830598-165830599
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00059(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr3:165548387
GRCh38:
Chr3:165830599
BCHEDeficiency of butyrylcholine esterasePathogenic
(May 1, 1990)
no assertion criteria provided
58.
GRCh37:
Chr3:165548394
GRCh38:
Chr3:165830606
BCHEDeficiency of butyrylcholine esteraseGO-ESP:0.00026(T)Pathogenic
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr3:165548529
GRCh38:
Chr3:165830741
BCHEDeficiency of butyrylcholine esterase, Postanesthetic apnea, BCHE, dibucaine-resistant i
GO-ESP:0.01392(C)
GMAF:0.00600(C)
GO-ESP:0.01207(C)
Pathogenic
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr3:165548615-165548616
GRCh38:
Chr3:165830827-165830828
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Apr 20, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr3:165548636
GRCh38:
Chr3:165830848
BCHEDeficiency of butyrylcholine esteraseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr3:165548712
GRCh38:
Chr3:165830924
BCHEDeficiency of butyrylcholine esteraseLikely pathogenic
(Nov 7, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr3:165548832-165548835
GRCh38:
Chr3:165831044-165831047
BCHEDeficiency of butyrylcholine esteraseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr3:165555224
GRCh38:
Chr3:165837436
BCHEDeficiency of butyrylcholine esteraseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr3:142995020-192997215
AADAC, ACTL6A, AGTR1, AHSG, BCHE, BCL6, AP2M1, CLCN2, CP, CPA3, CPB1, CRYGS, DGKG, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GYG1, HRG, IL1RAP, IL12A, KNG1, KPNA4, LPP, TM4SF1, MBNL1, MLF1, MME, NDUFB5, CLDN11, P2RY1, PFN2, SERPINI1, SERPINI2, PIK3CA, PLD1, PLOD2, PLSCR1, POLR2H, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RFC4, SNORA63, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, HLTF, SOX2, SSR3, SST, TERC, THPO, SEC62, TM4SF4, CLRN1, ZIC1, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, GMPS, EIF2B5, USP13, CLDN1, MAP3K13, SLC33A1, ADIPOQ, ECE2, TSC22D2, P2RY14, SMC4, ABCC5, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, RNF13, SLITRK3, NLGN1, PLCH1, TNIK, MCF2L2, ATP11B, VPS8, WWTR1, TIPARP, ARHGEF26, GPR160, FETUB, LAMP3, KCNMB3, SERP1, GOLIM4, GPR171, SCHIP1, NMD3, COMMD2, ZNF639, RSRC1, PEX5L, SELENOT, DNAJB11, P2RY13, GPR87, DCUN1D1, KLHL24, TBCCD1, P3H2, ABCF3, PARL, MFN1, YEATS2, MYNN, EIF5A2, SUCNR1, MCCC1, LXN, CCNL1, PLSCR2, PLSCR4, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, P2RY12, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, SPATA16, EIF2A, B3GNT5, ZIC4, HPS3, ACTRT3, GFM1, KLHL6, VWA5B2, TMEM41A, CAMK2N2, TM4SF18, RPL39L, MED12L, DNAJC19, OTOL1, FAM131A, ERICH6, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, PQLC2L, C3orf79, CCDC50, PYDC2, SPTSSB, DHX36, HTR3C, LIPH, HTR3D, RPL22L1, C3orf58, NAALADL2, UTS2B, SLC9A9, HTR3E, IGSF10, PABPC1P10, C3orf33, C3orf70, TPRG1, TRIM59, CCDC39, LRRIQ4, SAMD7, AADACL2, GPR149, RTP2, OSTN, ATP13A5, SOX2-OT, PLSCR5, ANKUB1, LEKR1, TMEM212, C3orf80, MIR28, , MINDY4B, GMNC, TMEM183B, IQCJ, SNORA81, MIR1224, IQCJ-SCHIP1
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr3:155836230-197851986
GRCh38:
Chr3:156118441-198125115
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MELTF, MLF1, MUC4, NDUFB5, OPA1, CLDN11, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, TIPARP, UBXN7, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, CCNL1, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, TCTEX1D2, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LINC02028, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, LEKR1, TMEM212, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LINC00969, SNORD2, SNORA4, IGF2BP2-AS1, LINC01192, GMNC, LINC02026, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, RNU6-42P, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, LINC02082, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, LINC01840, KCNAB1-AS2, KCNAB1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, LOC100996447, LINC01206, LINC02067, XXYLT1-AS2, IL12A-AS1, LINC02023, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, TUBB8P8, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LINC02029, LOC105374194, LINC01997, LOC105374205, LINC02068, LINC01995, LINC02054, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
67.
GRCh37:
Chr3:156039667-197840323
GRCh38:
Chr3:156321878-198113452
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MELTF, MLF1, MUC4, NDUFB5, OPA1, CLDN11, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, TIPARP, UBXN7, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, CCNL1, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, TCTEX1D2, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LINC02028, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, LEKR1, TMEM212, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LINC00969, SNORD2, SNORA4, IGF2BP2-AS1, LINC01192, GMNC, LINC02026, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, RNU6-42P, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, LINC02082, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, LINC01840, KCNAB1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, LOC100996447, LINC01206, LINC02067, XXYLT1-AS2, IL12A-AS1, LINC02023, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LINC02029, LOC105374194, LINC01997, LOC105374205, LINC02068, LINC01995, LINC02054, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Jan 14, 2013)
no assertion criteria provided
68.
GRCh37:
Chr3:151818301-197845254
GRCh38:
Chr3:152100512-198118383
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MBNL1, MELTF, MLF1, MME, MUC4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, GMPS, EIF2B5, USP13, CLDN1, MAP3K13, SLC33A1, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, PLCH1, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, TIPARP, UBXN7, ARHGEF26, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, CCNL1, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, C3orf79, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, DHX36, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, TCTEX1D2, SMCO1, UTS2B, HTR3E, PABPC1P10, C3orf33, C3orf70, TPRG1, LINC02028, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, GPR149, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, LEKR1, TMEM212, MBNL1-AS1, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LINC00969, SNORD2, SNORA4, , IGF2BP2-AS1, LINC01192, GMNC, LINC02026, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, RNU6-42P, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, ARHGEF26-AS1, LOC100507537, LINC02082, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, LINC01840, KCNAB1-AS2, KCNAB1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, LOC100996447, LINC01206, LINC02067, XXYLT1-AS2, LOC101928166, LINC01487, IL12A-AS1, LINC02023, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LINC02006, LINC02029, LOC105374194, LINC01997, LOC105374205, LINC02068, LINC01995, LINC02054, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Jun 18, 2012)
no assertion criteria provided
69.
GRCh37:
Chr3:164876399-179847956
GRCh38:
Chr3:165158611-180130168
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
70.
GRCh37:
Chr3:103145726-197837049
GRCh38:
Chr3:103426882-198110178
AADAC, ACPP, ACTL6A, ADCY5, ADPRH, AGTR1, AHSG, ALCAM, APOD, ATP1B3, ATP6V1A, ATR, BCHE, BCL6, BDH1, FOXL2, CASR, CBLB, CD80, CD86, CD47, AP2M1, CLCN2, CP, CPA3, CPB1, CPN2, CRYGS, CSTA, DGKG, DLG1, DRD3, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB1, EPHB3, ETV5, MECOM, FGF12, GAP43, GATA2, GHSR, GOLGB1, GP5, GP9, GSK3B, GTF2E1, GYG1, HCLS1, HGD, HRG, HES1, IL1RAP, IL12A, ITGB5, KNG1, KPNA1, KPNA4, LPP, LSAMP, TM4SF1, MBNL1, MCM2, MELTF, MLF1, MME, CD200, MUC4, MYLK, NCK1, NDUFB4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCCB, PCYT1A, PFN2, SERPINI1, SERPINI2, PIK3CA, PIK3CB, PLD1, PLOD2, PLS1, PLSCR1, PLXNA1, POLR2H, PPP1R2, PPP2R3A, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RASA2, RBP1, RBP2, RFC4, RHO, SNORA63, RPL35A, RPN1, RYK, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, SLC15A2, SLCO2A1, HLTF, SOX2, SSR3, SST, TERC, TF, TFDP2, TFRC, THPO, SEC62, TM4SF4, TRH, TRPC1, UPK1B, UMPS, CLRN1, ZIC1, CNBP, ZNF80, ZNF148, RAB7A, KCNAB1, FXR1, SOX14, BFSP2, RUVBL1, TP63, CHRD, B4GALT4, B3GALNT1, SNX4, TNFSF10, GMPS, NR1I2, EIF2B5, MBD4, H1FX, USP13, KALRN, CLDN1, MAP3K13, SLC33A1, COPB2, ADIPOQ, CHST2, STXBP5L, RNF7, GUCA1C, IQCB1, DZIP3, RUBCN, ECE2, TSC22D2, P2RY14, SMC4, ABCC5, COX17, TNK2, ALG3, CD96, KCNMB2, STAG1, IGF2BP2, CLDN16, POLQ, ALDH1L1, PDIA5, TOPBP1, HHLA2, FSTL1, MRPL3, PDCD10, RNF13, MGLL, MRAS, COPG1, SLITRK3, NLGN1, NCBP2, MYH15, PLCH1, TMCC1, TNIK, MCF2L2, PLXND1, ATP11B, DNAJC13, U2SURP, VPS8, LINC01565, ACAP2, ANAPC13, ARMC8, NEPRO, WWTR1, NECTIN3, TIPARP, UBXN7, ARHGEF26, ZBTB20, FAM162A, PCOLCE2, SEC22A, GPR160, FETUB, NPHP3, ATP2C1, LAMP3, KCNMB3, MORC1, SERP1, GOLIM4, ACAD9, ASTE1, KLF15, GTPBP8, TAGLN3, GPR171, SEC61A1, SCHIP1, PIK3R4, PODXL2, TRAT1, NMD3, COMMD2, A4GNT, DBR1, ZNF639, CLDN18, TIMMDC1, RSRC1, PLA1A, AMOTL2, ACKR4, PEX5L, RAB6B, SELENOT, FBXO40, DNAJB11, P2RY13, IL20RB, GPR87, DCUN1D1, SEMA5B, XRN1, WDR5B, PARP14, GRAMD1C, ROPN1, KLHL24, SIDT1, SLC41A3, PIGX, SLC35A5, IFT57, MSL2, TBCCD1, FAIM, SLC25A36, DPPA4, P3H2, TMEM39A, ABCF3, LSG1, ABHD10, PARL, CDV3, MFN1, YEATS2, IFT122, CFAP44, EAF2, MYNN, EIF5A2, MUC13, SUCNR1, MCCC1, LXN, HMCES, MRPS22, POGLUT1, BBX, CCNL1, PLSCR2, PLSCR4, HRASLS, MRPL47, ISY1, HEG1, KIAA1257, ARHGAP31, NCEH1, IFT80, CCDC191, KIAA1524, SLC7A14, SRPRB, SENP2, GNB4, BPESC1, EEFSEC, CLSTN2, POPDC2, RTP4, MAGEF1, ZMAT3, ATG3, MFSD1, CCDC14, FNDC3B, P2RY12, TMEM108, ZXDC, ZBED2, ATP13A3, HSPBAP1, C3orf52, VEPH1, QTRT2, TBL1XR1, ZBBX, LRRC31, EFCC1, NEK11, UBA5, MAP6D1, PHC3, C3orf36, ARL14, NAA50, PIGZ, CEP63, CEP70, ABTB1, SLC35G2, PARP9, ESYT3, SPATA16, EIF2A, B3GNT5, ZIC4, ACAD11, IQCG, ATP13A4, FYTTD1, CHCHD6, HPS3, ACTRT3, SLC12A8, RETNLB, CCDC54, MGC2889, LRCH3, DIRC2, CEP19, BFSP2-AS1, GFM1, LMLN, KLHL6, MAATS1, PHLDB2, VWA5B2, LOC90246, EFCAB12, TMEM41A, BOC, SPSB4, PXYLP1, TMEM44, CAMK2N2, TXNRD3, OSBPL11, LRRC58, TM4SF19, TM4SF18, RPL39L, MED12L, CLRN1-AS1, CPNE4, CCDC58, DNAJC19, OTOL1, FAM131A, CD200R1, ZDHHC19, LRRC15, FAM43A, TPRA1, UROC1, ERICH6, NUDT16, COL6A6, GRK7, TMEM207, RTP1, H1FOO, PISRT1, TTC14, DTX3L, LINC00635, PPM1L, WDR49, LRRC34, DPPA2, CCDC80, BTLA, MB21D2, XXYLT1, ROPN1B, C3orf22, PQLC2L, C3orf79, CCDC50, PYDC2, SPICE1, NCBP2-AS2, IGSF11, C3orf30, PARP15, SPTSSB, DNAJB8, GPR156, RNF168, CHST13, KBTBD12, DHX36, HTR3C, DZIP1L, ALG1L, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, HACD2, TIGIT, C3orf58, SENP5, USF3, ZBTB38, LINC02052, NAALADL2, ZDHHC23, TCTEX1D2, SMCO1, COL6A5, GK5, PLCXD2, GCSAM, UTS2B, TUSC7, SLC9A9, LINC00636, DNAJB8-AS1, HTR3E, RABL3, C3orf56, IGSF10, PABPC1P10, C3orf33, SLC9C1, C3orf70, TPRG1, LINC02028, ILDR1, TRIM59, TRIM42, RAB43, CCDC39, KY, LOC339874, LINC00880, EHHADH-AS1, LPP-AS2, H1FX-AS1, DUBR, LRRIQ4, SAMD7, AADACL2, GPR149, TMPRSS7, CD200R1L, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, NME9, WDR53, CFAP100, NPHP3-AS1, NMNAT3, NRROS, PRR23B, PRR23C, PLSCR5, ANKUB1, LEKR1, TMEM212, FLJ22763, LINC01205, FOXL2NB, MBNL1-AS1, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR198, MIR28, LOC440982, LINC00969, ARGFX, SNORD2, SNORA4, ALG1L2, TXNRD3NB, , COL6A4P2, IGF2BP2-AS1, LOC646730, LOC646903, FAM188B2, LINC01192, GMNC, LINC02026, TMEM183B, IQCJ, SCARNA7, LINC00488, SNORA7B, SNORA58, SNORA81, SNORD66, MIR551B, MIR567, MIR568, MIR569, MIR570, PRR23A, LINC00886, LINC01100, MIR922, MIR944, WWTR1-AS1, TNK2-AS1, LINC02012, LINC02035, ZBTB20-AS1, LINC00887, LOC100131635, SNAR-I, MIR1224, TRC-GCA6-1, TRC-GCA9-1, TRV-AAC1-1, TIPARP-AS1, LOC100287290, LOC100289361, MIR1248, MIR1263, MIR548I1, LINC00882, RNU6-42P, MIR544B, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MORC1-AS1, PVRL3-AS1, LINC01279, LINC00901, IGSF11-AS1, MYLK-AS1, CCDC37-AS1, TMCC1-AS1, MELTF-AS1, DLG1-AS1, LINC02000, LINC01210, LOC100507291, TMEM44-AS1, LOC100507389, LINC01968, LINC02032, ARHGEF26-AS1, LOC100507537, LINC02082, NPHP3-ACAD11, ISY1-RAB43, TM4SF19-TCTEX1D2, MIR4448, MIR4445, MIR4796, MIR4797, MIR4788, MIR548AB, MIR4789, MIR4446, MIR4447, LINC00501, MIR5002, MIR5186, MIR5092, MIR5704, MIR5682, MIR5588, MIR548AQ, ALDH1L1-AS2, NAALADL2-AS3, LPP-AS1, MYLK-AS2, OPA1-AS1, HLTF-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, CFAP44-AS1, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, LINC01840, KCNAB1-AS2, KCNAB1-AS1, RUVBL1-AS1, TM4SF1-AS1, ADIPOQ-AS1, PLCXD2-AS1, ZBTB20-AS4, B4GALT4-AS1, ALDH1L1-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, ARHGAP31-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, SLC9A9-AS1, LOC100996447, LINC01206, LINC02067, XXYLT1-AS2, LSAMP-AS1, LOC101926968, LINC02049, LOC101927056, LINC02016, LINC01471, GATA2-AS1, TMEM108-AS1, NCK1-AS1, CLSTN2-AS1, PAQR9-AS1, LINC02010, LINC01213, LINC01214, ERICH6-AS1, LOC101928105, AADACL2-AS1, LOC101928166, LINC01487, IL12A-AS1, LINC02023, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LOC101929579, LINC01990, LINC01215, LINC02042, LINC01983, LINC02044, ZBTB20-AS5, LINC01063, MIR6083, MIR6826, MIR6828, MIR7110, MIR7976, MIR7977, MIR6829, MIR6825, MIR8076, MIR6827, LOC102723582, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01391, LINC01322, LINC01327, LINC01324, ZBTB20-AS3, KCNMB2-AS1, LINC02024, LOC105374060, LINC02021, LINC02014, LINC02004, LINC02045, LINC02046, LINC02066, LINC02006, LINC02029, LOC105374194, LINC01997, LOC105374205, LINC02068, LINC01995, LINC02054, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, LOC105374312, LOC105374313, HTR3E-AS1, OSTN-AS1, IL20RB-AS1
See casesPathogenic
(Jan 24, 2011)
no assertion criteria provided
71.
GRCh37:
Chr3:157859345-172506114
GRCh38:
Chr3:158141556-172788324
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
72.
GRCh37:
Chr3:157011167-197861598
GRCh38:
Chr3:157293378-198134727
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MELTF, MLF1, MUC4, NDUFB5, OPA1, CLDN11, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SST, TERC, TFRC, THPO, SEC62, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, UBXN7, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, TCTEX1D2, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LINC02028, TRIM59, CCDC39, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, TMEM212, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LINC00969, SNORD2, SNORA4, IGF2BP2-AS1, LINC01192, GMNC, LINC02026, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC01100, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, LOC100287290, MIR1248, MIR1263, RNU6-42P, MIR3137, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, LINC02082, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, LINC01840, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, LOC100996447, LINC01206, LINC02067, XXYLT1-AS2, IL12A-AS1, LINC02023, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, TUBB8P8, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LOC105374194, LINC01997, LOC105374205, LINC02068, LINC01995, LINC02054, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
73.
GRCh37:
Chr3:147239679-197823436
GRCh38:
Chr3:147521892-198096565
AADAC, ACTL6A, AGTR1, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CP, CPA3, CPB1, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, GYG1, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, TM4SF1, MBNL1, MELTF, MLF1, MME, MUC4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCYT1A, PFN2, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, HLTF, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, TM4SF4, CLRN1, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, GMPS, EIF2B5, USP13, CLDN1, MAP3K13, SLC33A1, ADIPOQ, RUBCN, ECE2, TSC22D2, P2RY14, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, RNF13, SLITRK3, NLGN1, NCBP2, PLCH1, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, WWTR1, TIPARP, UBXN7, ARHGEF26, GPR160, FETUB, LAMP3, KCNMB3, SERP1, GOLIM4, GPR171, SCHIP1, NMD3, COMMD2, ZNF639, RSRC1, PEX5L, SELENOT, DNAJB11, P2RY13, GPR87, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, SUCNR1, MCCC1, LXN, CCNL1, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, P2RY12, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, EIF2A, B3GNT5, IQCG, ATP13A4, FYTTD1, HPS3, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, TM4SF18, RPL39L, MED12L, CLRN1-AS1, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, ERICH6, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, C3orf79, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, DHX36, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, TCTEX1D2, SMCO1, UTS2B, HTR3E, IGSF10, PABPC1P10, C3orf33, C3orf70, TPRG1, LINC02028, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, AADACL2, GPR149, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, ANKUB1, LEKR1, TMEM212, MBNL1-AS1, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LINC00969, SNORD2, SNORA4, , IGF2BP2-AS1, LOC646903, MINDY4B, LINC01192, GMNC, LINC02026, TMEM183B, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, WWTR1-AS1, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, RNU6-42P, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, LINC02032, ARHGEF26-AS1, LOC100507537, LINC02082, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5186, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, HLTF-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, LINC01840, KCNAB1-AS2, KCNAB1-AS1, TM4SF1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, LOC100996447, LINC01206, LINC02067, XXYLT1-AS2, LINC01213, LINC01214, ERICH6-AS1, LOC101928105, AADACL2-AS1, LOC101928166, LINC01487, IL12A-AS1, LINC02023, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LINC02045, LINC02046, LINC02066, LINC02006, LINC02029, LOC105374194, LINC01997, LOC105374205, LINC02068, LINC01995, LINC02054, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, LOC105374313, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
74.
GRCh37:
Chr3:147160353-178240319
GRCh38:
Chr3:147442566-178522531
AADAC, AGTR1, BCHE, CP, CPA3, CPB1, ECT2, MECOM, GHSR, GYG1, IL12A, KPNA4, TM4SF1, MBNL1, MLF1, MME, CLDN11, P2RY1, PFN2, SERPINI1, SERPINI2, PLD1, PRKCI, PTX3, RAP2B, RARRES1, SHOX2, SI, SIAH2, SKIL, SLC2A2, HLTF, SSR3, TERC, SEC62, TM4SF4, CLRN1, KCNAB1, B3GALNT1, TNFSF10, GMPS, SLC33A1, TSC22D2, P2RY14, SMC4, PDCD10, RNF13, SLITRK3, NLGN1, PLCH1, TNIK, WWTR1, TIPARP, ARHGEF26, GPR160, SERP1, GOLIM4, GPR171, SCHIP1, NMD3, COMMD2, RSRC1, SELENOT, P2RY13, GPR87, MYNN, EIF5A2, SUCNR1, LXN, CCNL1, NCEH1, IFT80, SLC7A14, MFSD1, FNDC3B, P2RY12, VEPH1, TBL1XR1, ZBBX, LRRC31, PHC3, ARL14, SPATA16, EIF2A, HPS3, ACTRT3, GFM1, TM4SF18, MED12L, CLRN1-AS1, OTOL1, ERICH6, PPM1L, WDR49, LRRC34, PQLC2L, C3orf79, SPTSSB, DHX36, RPL22L1, NAALADL2, IGSF10, PABPC1P10, C3orf33, TRIM59, LINC00880, LRRIQ4, SAMD7, AADACL2, GPR149, ANKUB1, LEKR1, TMEM212, MBNL1-AS1, C3orf80, MIR15B, MIR16-2, LOC440982, , LOC646903, MINDY4B, LINC01192, TMEM183B, IQCJ, SCARNA7, MIR551B, MIR569, LINC00886, LINC01100, WWTR1-AS1, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1263, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02032, ARHGEF26-AS1, LOC100507537, LINC02082, MIR4789, LINC00501, MIR5186, NAALADL2-AS3, HLTF-AS1, NLGN1-AS1, PLCH1-AS1, PLCH1-AS2, KCNAB1-AS2, KCNAB1-AS1, TM4SF1-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, LOC100996447, LINC02067, LINC01213, LINC01214, ERICH6-AS1, LOC101928105, AADACL2-AS1, LOC101928166, LINC01487, IL12A-AS1, LINC02023, LOC101928583, LINC01209, MIR6828, MIR7977, LINC02015, LINC01322, LINC01327, LINC01324, LINC02045, LINC02046, LINC02066, LINC02006, LINC02029, LOC105374194, LINC01997, LOC105374205, LINC02068, LOC105374313
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
75.
GRCh37:
Chr3:136845824-197837049
GRCh38:
Chr3:137126982-198110178
AADAC, ACTL6A, AGTR1, AHSG, APOD, ATP1B3, ATR, BCHE, BCL6, BDH1, FOXL2, AP2M1, CLCN2, CP, CPA3, CPB1, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, GYG1, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, TM4SF1, MBNL1, MELTF, MLF1, MME, MUC4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCYT1A, PFN2, SERPINI1, SERPINI2, PIK3CA, PIK3CB, PLD1, PLOD2, PLS1, PLSCR1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RASA2, RBP1, RBP2, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, HLTF, SOX2, SSR3, SST, TERC, TFDP2, TFRC, THPO, SEC62, TM4SF4, TRPC1, CLRN1, ZIC1, KCNAB1, FXR1, SOX14, TP63, CHRD, B3GALNT1, TNFSF10, GMPS, EIF2B5, USP13, CLDN1, MAP3K13, SLC33A1, COPB2, ADIPOQ, CHST2, RNF7, RUBCN, ECE2, TSC22D2, P2RY14, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, RNF13, MRAS, SLITRK3, NLGN1, NCBP2, PLCH1, TNIK, MCF2L2, ATP11B, U2SURP, VPS8, ACAP2, ARMC8, WWTR1, TIPARP, UBXN7, ARHGEF26, PCOLCE2, GPR160, FETUB, LAMP3, KCNMB3, SERP1, GOLIM4, GPR171, SCHIP1, NMD3, COMMD2, A4GNT, DBR1, ZNF639, CLDN18, RSRC1, PEX5L, SELENOT, DNAJB11, P2RY13, GPR87, DCUN1D1, XRN1, KLHL24, PIGX, TBCCD1, FAIM, SLC25A36, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, SUCNR1, MCCC1, LXN, MRPS22, CCNL1, PLSCR2, PLSCR4, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, BPESC1, CLSTN2, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, P2RY12, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, CEP70, ESYT3, SPATA16, EIF2A, B3GNT5, ZIC4, IQCG, ATP13A4, FYTTD1, HPS3, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, SPSB4, PXYLP1, TMEM44, CAMK2N2, TM4SF19, TM4SF18, RPL39L, MED12L, CLRN1-AS1, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, ERICH6, GRK7, TMEM207, RTP1, PISRT1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, C3orf79, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, DHX36, HTR3C, DZIP1L, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, C3orf58, SENP5, ZBTB38, LINC02052, NAALADL2, TCTEX1D2, SMCO1, GK5, UTS2B, SLC9A9, HTR3E, IGSF10, PABPC1P10, C3orf33, C3orf70, TPRG1, LINC02028, TRIM59, TRIM42, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, AADACL2, GPR149, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, NME9, WDR53, NMNAT3, NRROS, PRR23B, PRR23C, PLSCR5, ANKUB1, LEKR1, TMEM212, FOXL2NB, MBNL1-AS1, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LOC440982, LINC00969, SNORD2, SNORA4, , IGF2BP2-AS1, LOC646730, LOC646903, FAM188B2, LINC01192, GMNC, LINC02026, TMEM183B, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, PRR23A, LINC00886, LINC01100, MIR922, MIR944, WWTR1-AS1, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, LOC100289361, MIR1248, MIR1263, RNU6-42P, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, LINC01210, LOC100507291, TMEM44-AS1, LOC100507389, LINC01968, LINC02032, ARHGEF26-AS1, LOC100507537, LINC02082, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5186, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, HLTF-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, LINC01840, KCNAB1-AS2, KCNAB1-AS1, TM4SF1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, SLC9A9-AS1, LOC100996447, LINC01206, LINC02067, XXYLT1-AS2, CLSTN2-AS1, PAQR9-AS1, LINC02010, LINC01213, LINC01214, ERICH6-AS1, LOC101928105, AADACL2-AS1, LOC101928166, LINC01487, IL12A-AS1, LINC02023, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01391, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LINC02045, LINC02046, LINC02066, LINC02006, LINC02029, LOC105374194, LINC01997, LOC105374205, LINC02068, LINC01995, LINC02054, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, LOC105374313, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center