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Items: 1 to 100 of 962

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Jun 13, 2015)
criteria provided, single submitter
2.
RETnot providedUncertain significance
(Jul 13, 2012)
no assertion criteria provided
3.
RETHirschsprung disease 1risk factor
(Jan 27, 1994)
no assertion criteria provided
4.
GRCh37:
Chr10:42347406-135534747
ACADSB, ACTA2, ADAM8, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, BMPR1A, BNIP3, CAMK2G, CASP7, ENTPD1, CDK1, CHAT, CHUK, ABCC2, COL13A1, COL17A1, COX15, CPN1, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, DMBT1, DNA2, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GDF2, GDF10, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IFIT2, IFIT1, IFIT3, INPP5A, KCNMA1, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PGAM1, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, TACR2, TAF5, TCF7L2, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33B, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, UTF1, PARG, NDST2, LIPF, EIF3A, GBF1, LDB1, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, LGI1, NOLC1, DLG5, GSTO1, CHST3, BAG3, VPS26A, MINPP1, KIF20B, SEC24C, SH3PXD2A, FAM53B, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, FRAT1, PPIF, ACTR1A, SMNDC1, NPM3, MICU1, GLRX3, RPP30, DPYSL4, TACC2, SORBS1, ERLIN1, LBX1, NRG3, OGA, TUBGCP2, PRDX3, ADIRF, VAX1, DEPP1, ATE1, POLR3A, ZWINT, LDB3, SEC23IP, ECD, RAB11FIP2, CPEB3, INPP5F, ZNF365, DKK1, NT5C2, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, ABRAXAS2, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, KAT6B, TSPAN15, IFIT5, DPCD, SEC31B, NUDT13, ATRNL1, HERC4, PTPN20, EDRF1, LRIT1, TCTN3, KIF1BP, C10orf12, ANKRD2, CNNM1, MYOF, AP3M1, ANKRD1, GHITM, PALD1, PDCD4, VENTX, R3HCC1L, POLL, CTNNA3, BLNK, A1CF, NRBF2, KCNIP2, CUZD1, CALY, NEUROG3, ASCC1, EXOSC1, MRPS16, CALHM2, CUTC, PLCE1, DUSP13, CHST15, SUFU, ACSL5, PANK1, FXYD4, CCSER2, EXOC6, SHLD2, DDIT4, CCNJ, MARCH5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, CCDC186, CRTAC1, CEP55, LRRC20, CWF19L1, SLC29A3, RNLS, PI4K2A, CSGALNACT2, H2AFY2, HIF1AN, RUFY2, WDR11, SLF2, CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, ENTPD7, ZMIZ1, AS3MT, STAMBPL1, GPAM, SHTN1, FAM160B1, WDFY4, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A, CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, NOC3L, IKZF5, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, ARMH3, HPS6, MMRN2, MFSD13A, MCMBP, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, TNKS2, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, MARVELD1, SYT15, RASSF4, LRMDA, PCGF6, ARID5B, LOXL4, ZDHHC16, PRXL2A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, AFAP1L2, PLA2G12B, MYPN, PYROXD2, ATP5MD, ZNF503, AIFM2, ADO, ATAD1, ARHGAP19, KNDC1, ITPRIP, MCU, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, OPN4, HOGA1, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, AGAP11, GSTO2, SFR1, CALHM3, CLRN3, ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, FRMPD2, VTI1A, DYDC1, EIF5AL1, HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, TMEM273, FUT11, OIT3, C10orf91, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, CABCOCO1, TMEM26, ZCCHC24, UNC5B, STOX1, FAM241B, TYSND1, RTKN2, TBATA, ATOH7, SLC16A9, FAM13C, MARCH8, C10orf25, ZNF485, RASGEF1A, REEP3, JMJD1C, IPMK, WASHC2C, EBF3, CALHM1, CASC2, TCERG1L, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, FAM149B1, FFAR4, KCNK18, DUPD1, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, LRRTM3, NHLRC2, CCDC172, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, NKX1-2, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, FAM45A, MIR107, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, FRG2B, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, INSYN2, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, ANXA8, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, FAM25G, ADIRF-AS1, KLLN, TIMM23, FAS-AS1, MTRNR2L5, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520
PARP Inhibitor responsedrug response
(Nov 27, 2017)
no assertion criteria provided
5.
GRCh37:
Chr10:43572473-43572477
GRCh38:
Chr10:43077025-43077029
RET, LOC106736614Multiple endocrine neoplasia, type 2aUncertain significance
(Aug 18, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr10:43572507
GRCh38:
Chr10:43077059
RET, LOC106736614Pheochromocytoma, Renal adysplasia, Multiple endocrine neoplasia,
Hirschsprung Disease, Dominant
Benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr10:43572511
GRCh38:
Chr10:43077063
RET, LOC106736614Pheochromocytoma, Renal adysplasia, Multiple endocrine neoplasia,
Hirschsprung Disease, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr10:43572520
GRCh38:
Chr10:43077072
RET, LOC106736614Pheochromocytoma, Renal adysplasia, Multiple endocrine neoplasia,
Hirschsprung Disease, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr10:43572549
GRCh38:
Chr10:43077101
RET, LOC106736614Pheochromocytoma, Renal adysplasia, Multiple endocrine neoplasia,
Hirschsprung Disease, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr10:43572575
GRCh38:
Chr10:43077127
RET, LOC106736614Pheochromocytoma, Renal adysplasia, Multiple endocrine neoplasia,
Hirschsprung Disease, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr10:43572670
GRCh38:
Chr10:43077222
RET, LOC106736614Multiple endocrine neoplasia, type 2Uncertain significance
(Jul 10, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr10:43572705
GRCh38:
Chr10:43077257
RET, LOC106736614not specified, Hereditary cancer-predisposing syndromeUncertain significance
(Dec 7, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr10:43572713
GRCh38:
Chr10:43077265
RET, LOC106736614Hereditary cancer-predisposing syndromeUncertain significance
(Aug 1, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr10:43572724
GRCh38:
Chr10:43077276
RET, LOC106736614Multiple endocrine neoplasia, type 2Likely benign
(Jul 28, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr10:43572726
GRCh38:
Chr10:43077278
RET, LOC106736614Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndromeUncertain significance
(Apr 9, 2018)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr10:43572736
GRCh38:
Chr10:43077288
RET, LOC106736614Multiple endocrine neoplasia, type 2Likely benign
(Nov 26, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr10:43572737
GRCh38:
Chr10:43077289
RET, LOC106736614Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndromeUncertain significance
(Jun 21, 2018)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr10:43572737
GRCh38:
Chr10:43077289
RET, LOC106736614Multiple endocrine neoplasia, type 2Likely benign
(Nov 30, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr10:43572737
GRCh38:
Chr10:43077289
RET, LOC106736614Multiple endocrine neoplasia, type 2Uncertain significance
(Jun 11, 2014)
no assertion criteria provided
20.
GRCh37:
Chr10:43572749-43572757
GRCh38:
Chr10:43077301-43077309
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Mar 8, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr10:43572751
GRCh38:
Chr10:43077303
RETnot provided, Hereditary cancer-predisposing syndromeLikely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr10:43572752
GRCh38:
Chr10:43077304
RETMultiple endocrine neoplasia, type 2Likely benign
(Mar 24, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr10:43572753
GRCh38:
Chr10:43077305
RETMultiple endocrine neoplasia, type 2Uncertain significance
(May 9, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr10:43572756-43572764
GRCh38:
Chr10:43077308-43077316
RETMultiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2, not specified
Uncertain significance
(Jul 2, 2018)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr10:43572762-43572764
GRCh38:
Chr10:43077314-43077316
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Oct 12, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr10:43572763-43572771
GRCh38:
Chr10:43077315-43077323
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Feb 26, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr10:43572764
GRCh38:
Chr10:43077316
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Aug 21, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr10:43572765-43572767
GRCh38:
Chr10:43077317-43077319
RETMultiple endocrine neoplasia, type 2, not specifiedUncertain significance
(Dec 29, 2017)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr10:43572774
GRCh38:
Chr10:43077326
RETHereditary cancer-predisposing syndromeUncertain significance
(May 23, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr10:43572788
GRCh38:
Chr10:43077340
RETMultiple endocrine neoplasia, type 2Likely benign
(Nov 22, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr10:43572789
GRCh38:
Chr10:43077341
RETMultiple endocrine neoplasia, type 2Likely benign
(Dec 15, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr10:43581980
GRCh38:
Chr10:43086532
RET, MCS+9.7, LOC110121502not specifiedBenign
(May 5, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr10:43582056
GRCh38:
Chr10:43086608
RET, MCS+9.7, LOC110121502Hirschsprung disease 1, Hirschsprung disease, not specified
Benign, risk factor
(Dec 6, 2017)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr10:43582057
GRCh38:
Chr10:43086609
RET, MCS+9.7, LOC110121502Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2aLikely benign
(May 19, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr10:43595902
GRCh38:
Chr10:43100454
RETMultiple endocrine neoplasia, type 2Likely benign
(May 1, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr10:43595909
GRCh38:
Chr10:43100461
RETMultiple endocrine neoplasia, type 2Uncertain significance
(May 9, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr10:43595912
GRCh38:
Chr10:43100464
RETMultiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndromeLikely benign
(Nov 17, 2017)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr10:43595914
GRCh38:
Chr10:43100466
RETMultiple endocrine neoplasia, type 2Likely benign
(May 2, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr10:43595928
GRCh38:
Chr10:43100480
RETHirschsprung disease 1, Hirschsprung diseaseLikely pathogenic, risk factor
(Jul 29, 2014)
no assertion criteria provided
40.
GRCh37:
Chr10:43595929
GRCh38:
Chr10:43100481
RETMultiple endocrine neoplasia, type 2Likely benign
(Sep 25, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr10:43595942
GRCh38:
Chr10:43100494
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Jul 18, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr10:43595967
GRCh38:
Chr10:43100519
RETHereditary cancer-predisposing syndromeUncertain significance
(May 30, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr10:43595967
GRCh38:
Chr10:43100519
RETMultiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2, not specified,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Aug 1, 2018)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr10:43595968
GRCh38:
Chr10:43100520
RETnot specifiedBenign
(Mar 23, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr10:43595968
GRCh38:
Chr10:43100520
RETHirschsprung disease 1, Multiple endocrine neoplasia, type 2, not specified,
not provided
Benign
(Jan 16, 2018)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr10:43595972
GRCh38:
Chr10:43100524
RETMultiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2Uncertain significance
(Dec 13, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr10:43595977
GRCh38:
Chr10:43100529
RETMultiple endocrine neoplasia, type 2Likely benign
(Dec 14, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr10:43595980
GRCh38:
Chr10:43100532
RETMultiple endocrine neoplasia, type 2Likely benign
(Oct 10, 2017)
criteria provided, single submitter
49.
GRCh37:
Chr10:43595989
GRCh38:
Chr10:43100541
RETMultiple endocrine neoplasia, type 2Likely benign
(Jun 16, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr10:43595990
GRCh38:
Chr10:43100542
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Apr 18, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr10:43595992
GRCh38:
Chr10:43100544
RETMultiple endocrine neoplasia, type 2Likely benign
(May 25, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr10:43595999
GRCh38:
Chr10:43100551
RETMultiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2, Hirschsprung disease,
not specified, not provided, Hereditary cancer-predisposing syndrome,
Multiple endocrine neoplasia
Benign/Likely benign
(Jan 3, 2018)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr10:43596002
GRCh38:
Chr10:43100554
RETHereditary cancer-predisposing syndromeUncertain significance
(Jan 5, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr10:43596003
GRCh38:
Chr10:43100555
RETMultiple endocrine neoplasia, type 2, not provided, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Jul 10, 2017)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr10:43596008
GRCh38:
Chr10:43100560
RETMultiple endocrine neoplasia, type 2, not specifiedUncertain significance
(May 8, 2018)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr10:43596009
GRCh38:
Chr10:43100561
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Mar 10, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr10:43596010
GRCh38:
Chr10:43100562
RETMultiple endocrine neoplasia, type 2Likely benign
(Nov 16, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr10:43596011
GRCh38:
Chr10:43100563
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Dec 21, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr10:43596015
GRCh38:
Chr10:43100567
RETHereditary cancer-predisposing syndromeUncertain significance
(Aug 1, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr10:43596022
GRCh38:
Chr10:43100574
RETMultiple endocrine neoplasia, type 2Likely benign
(Mar 14, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr10:43596024
GRCh38:
Chr10:43100576
RETHirschsprung disease 1risk factor
(Jan 27, 1994)
no assertion criteria provided
62.
GRCh37:
Chr10:43596032
GRCh38:
Chr10:43100584
RETMultiple endocrine neoplasia, type 2Uncertain significance
(May 7, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr10:43596033
GRCh38:
Chr10:43100585
RETPheochromocytoma, Renal adysplasia, Multiple endocrine neoplasia, type 2,
not specified, not provided, Hereditary cancer-predisposing syndrome,
Multiple endocrine neoplasia, Hirschsprung Disease, Dominant
Conflicting interpretations of pathogenicity
(Jan 8, 2018)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr10:43596037
GRCh38:
Chr10:43100589
RETMultiple endocrine neoplasia, type 2Likely benign
(Mar 28, 2017)
criteria provided, single submitter
65.
GRCh37:
Chr10:43596052
GRCh38:
Chr10:43100604
RETMultiple endocrine neoplasia, type 2Likely benign
(Jul 6, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr10:43596053
GRCh38:
Chr10:43100605
RETPheochromocytoma, Renal adysplasia, Multiple endocrine neoplasia, type 2,
Multiple endocrine neoplasia, Hirschsprung Disease, Dominant
Uncertain significance
(Jun 19, 2017)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr10:43596057
GRCh38:
Chr10:43100609
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Jun 25, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr10:43596058
GRCh38:
Chr10:43100610
RETMultiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2,
not specified, Hereditary cancer-predisposing syndrome
Benign/Likely benign
(Nov 30, 2017)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr10:43596063
GRCh38:
Chr10:43100615
RETMultiple endocrine neoplasia, type 2Uncertain significance
(May 23, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr10:43596068
GRCh38:
Chr10:43100620
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Apr 3, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr10:43596069
GRCh38:
Chr10:43100621
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Jun 28, 2017)
criteria provided, single submitter
72.
GRCh37:
Chr10:43596070
GRCh38:
Chr10:43100622
RETMultiple endocrine neoplasia, type 2Likely benign
(Oct 11, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr10:43596082
GRCh38:
Chr10:43100634
RETMultiple endocrine neoplasia, type 2Likely benign
(Sep 26, 2017)
criteria provided, single submitter
74.
GRCh37:
Chr10:43596095
GRCh38:
Chr10:43100647
RETMultiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Jul 2, 2018)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr10:43596099
GRCh38:
Chr10:43100651
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Mar 22, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr10:43596103
GRCh38:
Chr10:43100655
RETMultiple endocrine neoplasia, type 2Likely benign
(Nov 21, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr10:43596109
GRCh38:
Chr10:43100661
RETnot specifiedUncertain significance
(Nov 16, 2015)
criteria provided, single submitter
78.
GRCh37:
Chr10:43596128
GRCh38:
Chr10:43100680
RETHereditary cancer-predisposing syndromeUncertain significance
(Jan 6, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr10:43596129
GRCh38:
Chr10:43100681
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Feb 19, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr10:43596132
GRCh38:
Chr10:43100684
RETHereditary cancer-predisposing syndromeUncertain significance
(Apr 18, 2017)
criteria provided, single submitter
81.
GRCh37:
Chr10:43596137
GRCh38:
Chr10:43100689
RETMultiple endocrine neoplasia, type 2, not specified, not provided,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Jun 13, 2018)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr10:43596141
GRCh38:
Chr10:43100693
RETMultiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2
Uncertain significance
(Oct 18, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr10:43596155
GRCh38:
Chr10:43100707
RETMultiple endocrine neoplasia, type 2Likely benign
(Oct 18, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr10:43596162
GRCh38:
Chr10:43100714
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Mar 5, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr10:43596167
GRCh38:
Chr10:43100719
RETPheochromocytoma, Renal adysplasia, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia,
Hirschsprung Disease, Dominant
Uncertain significance
(May 22, 2018)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr10:43596168
GRCh38:
Chr10:43100720
RETMultiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Jan 11, 2018)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr10:43596179
GRCh38:
Chr10:43100731
RETPheochromocytoma, Renal adysplasia, not specified,
Multiple endocrine neoplasia, Hirschsprung Disease, Dominant
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr10:43596181
GRCh38:
Chr10:43100733
RETMultiple endocrine neoplasia, type 2a, not providedLikely benign
(Jan 3, 2018)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr10:43596182
GRCh38:
Chr10:43100734
RETMultiple endocrine neoplasia, type 2b, Pheochromocytoma, Renal adysplasia,
Multiple endocrine neoplasia, type 2a, not specified, Multiple endocrine neoplasia,
Hirschsprung Disease, Dominant
Benign/Likely benign
(Dec 26, 2017)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr10:43596199
GRCh38:
Chr10:43100751
RETMultiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2aLikely benign
(Jun 3, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr10:43596204
GRCh38:
Chr10:43100756
RETMultiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2aLikely benign
(Sep 7, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr10:43597792
GRCh38:
Chr10:43102344
RETnot providedUncertain significance
(Dec 22, 2017)
criteria provided, single submitter
93.
GRCh37:
Chr10:43597793
GRCh38:
Chr10:43102345
RETCongenital central hypoventilation, Hirschsprung disease 1, Multiple endocrine neoplasia, type 2,
not specified, Hereditary cancer-predisposing syndrome
Benign
(Jan 4, 2018)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr10:43597794
GRCh38:
Chr10:43102346
RETMultiple endocrine neoplasia, type 2Likely benign
(Jul 6, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr10:43597802
GRCh38:
Chr10:43102354
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Dec 8, 2017)
criteria provided, single submitter
96.
GRCh37:
Chr10:43597803
GRCh38:
Chr10:43102355
RETMultiple endocrine neoplasia, type 2Likely benign
(May 30, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr10:43597813
GRCh38:
Chr10:43102365
RETnot specified, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Nov 14, 2016)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr10:43597827
GRCh38:
Chr10:43102379
RETPheochromocytoma, Renal adysplasia, Multiple endocrine neoplasia, type 2,
not specified, not provided, Hereditary cancer-predisposing syndrome,
Multiple endocrine neoplasia, Hirschsprung Disease, Dominant
Benign/Likely benign
(Jan 23, 2018)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:43597846
GRCh38:
Chr10:43102398
RETHereditary cancer-predisposing syndromeUncertain significance
(Aug 16, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr10:43597849
GRCh38:
Chr10:43102401
RETMultiple endocrine neoplasia, type 2Uncertain significance
(May 21, 2018)
criteria provided, single submitter
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