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Items: 93

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
CHATFamilial infantile myastheniaPathogenic
(Feb 13, 2001)
no assertion criteria provided
2.
GRCh37:
Chr10:50819343
GRCh38:
Chr10:49611297
CHAT, SLC18A3Myasthenic syndrome, congenital, 21, presynapticPathogenic
(Dec 6, 2016)
no assertion criteria provided
3.
GRCh37:
Chr10:50819978
GRCh38:
Chr10:49611932
CHAT, SLC18A3Myasthenic syndrome, congenital, 21, presynapticPathogenic
(Dec 6, 2016)
no assertion criteria provided
4.
GRCh37:
Chr10:50822192
GRCh38:
Chr10:49614146
CHATnot specifiedBenign
(Feb 1, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr10:50822219
GRCh38:
Chr10:49614173
CHATnot specifiedBenign
(Nov 23, 2015)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr10:50822226
GRCh38:
Chr10:49614180
CHATnot specifiedBenign
(Jun 3, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr10:50822260
GRCh38:
Chr10:49614214
CHATnot providedUncertain significance
(Aug 26, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr10:50822320
GRCh38:
Chr10:49614274
CHATFamilial infantile myastheniaPathogenic
(Mar 31, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr10:50822376
GRCh38:
Chr10:49614330
CHATnot specifiedBenign/Likely benign
(Dec 9, 2014)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr10:50822493
GRCh38:
Chr10:49614447
CHATnot specifiedLikely benigncriteria provided, single submitter
11.
GRCh37:
Chr10:50824117
GRCh38:
Chr10:49616071
CHATnot specifiedBenign
(Mar 28, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr10:50824588
GRCh38:
Chr10:49616542
CHATnot specifiedLikely benigncriteria provided, single submitter
13.
GRCh37:
Chr10:50824619
GRCh38:
Chr10:49616573
CHATnot specifiedBenign
(Aug 4, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr10:50824648
GRCh38:
Chr10:49616602
CHATnot specifiedLikely benign
(Nov 16, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr10:50827721
GRCh38:
Chr10:49619675
CHATnot specifiedBenigncriteria provided, single submitter
16.
GRCh37:
Chr10:50827789
GRCh38:
Chr10:49619743
CHATnot specified, not providedConflicting interpretations of pathogenicity
(Jun 27, 2017)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr10:50827801
GRCh38:
Chr10:49619755
CHATFamilial infantile myastheniaPathogenic
(Mar 31, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr10:50827821
GRCh38:
Chr10:49619775
CHATnot specifiedBenigncriteria provided, single submitter
19.
GRCh37:
Chr10:50828506
GRCh38:
Chr10:49620460
CHATnot specifiedLikely benigncriteria provided, single submitter
20.
GRCh37:
Chr10:50828566
GRCh38:
Chr10:49620520
CHATnot providedPathogenic
(Nov 23, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr10:50828581
GRCh38:
Chr10:49620535
CHATFamilial infantile myastheniaPathogenic/Likely pathogenic
(Aug 16, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr10:50828590
GRCh38:
Chr10:49620544
CHATFamilial infantile myastheniaPathogenic
(Feb 13, 2001)
no assertion criteria provided
23.
GRCh37:
Chr10:50828592
GRCh38:
Chr10:49620546
CHATFamilial infantile myastheniaPathogenic
(Feb 13, 2001)
no assertion criteria provided
24.
GRCh37:
Chr10:50828596
GRCh38:
Chr10:49620550
CHATFamilial infantile myastheniaLikely pathogenic
(Nov 12, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr10:50828626
GRCh38:
Chr10:49620580
CHATnot specifiedUncertain significance
(Jun 22, 2017)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr10:50830155
GRCh38:
Chr10:49622109
CHATnot specifiedBenign/Likely benigncriteria provided, single submitter
27.
GRCh37:
Chr10:50830171
GRCh38:
Chr10:49622125
CHATnot specifiedBenign/Likely benign
(Mar 28, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr10:50830189
GRCh38:
Chr10:49622143
CHATnot specifiedLikely benign
(Apr 19, 2016)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr10:50833493
GRCh38:
Chr10:49625447
CHATnot specifiedBenigncriteria provided, single submitter
30.
GRCh37:
Chr10:50833633
GRCh38:
Chr10:49625587
CHATnot specifiedUncertain significance
(Apr 20, 2015)
criteria provided, single submitter
31.
GRCh37:
Chr10:50833662
GRCh38:
Chr10:49625616
CHATnot specifiedLikely benigncriteria provided, single submitter
32.
GRCh37:
Chr10:50833669
GRCh38:
Chr10:49625623
CHATnot specifiedLikely benignno assertion criteria provided
33.
GRCh37:
Chr10:50833680
GRCh38:
Chr10:49625634
CHATFamilial infantile myasthenia, Congenital myasthenic syndromePathogenic
(Jul 14, 2016)
no assertion criteria provided
34.
GRCh37:
Chr10:50835727
GRCh38:
Chr10:49627681
CHATFamilial infantile myastheniaPathogenic
(May 1, 2003)
no assertion criteria provided
35.
GRCh37:
Chr10:50835807
GRCh38:
Chr10:49627761
CHATnot specifiedUncertain significance
(Oct 12, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr10:50835876
GRCh38:
Chr10:49627830
CHATnot specifiedBenigncriteria provided, single submitter
37.
GRCh37:
Chr10:50854561
GRCh38:
Chr10:49646515
CHATnot specifiedBenign
(Aug 15, 2013)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr10:50854570
GRCh38:
Chr10:49646524
CHATnot specifiedBenign
(Aug 15, 2013)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr10:50854574
GRCh38:
Chr10:49646528
CHATnot specifiedBenign
(Jul 29, 2015)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr10:50854637
GRCh38:
Chr10:49646591
CHATnot specifiedBenign/Likely benign
(Sep 20, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr10:50854667
GRCh38:
Chr10:49646621
CHATnot specifiedUncertain significance
(Aug 16, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr10:50854687
GRCh38:
Chr10:49646641
CHATnot specifiedUncertain significance
(Dec 8, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr10:50854697
GRCh38:
Chr10:49646651
CHATFamilial infantile myastheniaPathogenic
(Feb 13, 2001)
no assertion criteria provided
44.
GRCh37:
Chr10:50854736
GRCh38:
Chr10:49646690
CHATnot specifiedBenigncriteria provided, single submitter
45.
GRCh37:
Chr10:50854767
GRCh38:
Chr10:49646721
CHATnot specifiedBenigncriteria provided, single submitter
46.
GRCh37:
Chr10:50856592
GRCh38:
Chr10:49648546
CHATFamilial infantile myastheniaPathogenic
(Feb 13, 2001)
no assertion criteria provided
47.
GRCh37:
Chr10:50856643
GRCh38:
Chr10:49648597
CHATnot specifiedBenign/Likely benign
(Nov 23, 2014)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr10:50856652
GRCh38:
Chr10:49648606
CHATnot specifiedBenign
(Mar 28, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr10:50856653
GRCh38:
Chr10:49648607
CHATFamilial infantile myastheniaUncertain significance
(Jun 23, 2016)
no assertion criteria provided
50.
GRCh37:
Chr10:50857512
GRCh38:
Chr10:49649466
CHATnot specifiedLikely benigncriteria provided, single submitter
51.
GRCh37:
Chr10:50857615
GRCh38:
Chr10:49649569
CHATFamilial infantile myastheniaPathogenic
(Feb 13, 2001)
no assertion criteria provided
52.
GRCh37:
Chr10:50857664
GRCh38:
Chr10:49649618
CHATFamilial infantile myastheniaPathogenic
(Feb 13, 2001)
no assertion criteria provided
53.
GRCh37:
Chr10:50859934
GRCh38:
Chr10:49651888
CHATFamilial infantile myastheniaPathogenic
(Feb 13, 2001)
no assertion criteria provided
54.
GRCh37:
Chr10:50860023
GRCh38:
Chr10:49651977
CHATnot specifiedLikely benigncriteria provided, single submitter
55.
GRCh37:
Chr10:50863147
GRCh38:
Chr10:49655101
CHATnot specifiedBenign
(Mar 28, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr10:50863174
GRCh38:
Chr10:49655128
CHATnot specifiedUncertain significance
(Dec 9, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr10:50863180
GRCh38:
Chr10:49655134
CHATnot specifiedBenign
(Aug 15, 2013)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr10:50863185
GRCh38:
Chr10:49655139
CHATFamilial infantile myastheniaPathogenic
(Feb 13, 2001)
no assertion criteria provided
59.
GRCh37:
Chr10:50863188
GRCh38:
Chr10:49655142
CHATnot specified, not providedBenign/Likely benign
(Jun 16, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr10:50863277
GRCh38:
Chr10:49655231
CHATnot specifiedUncertain significance
(Nov 17, 2014)
criteria provided, single submitter
61.
GRCh37:
Chr10:50863478
GRCh38:
Chr10:49655432
CHATnot specifiedUncertain significance
(Jun 4, 2015)
criteria provided, single submitter
62.
GRCh37:
Chr10:50870682
GRCh38:
Chr10:49662636
CHATnot providedLikely pathogenic
(Aug 29, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr10:50870734
GRCh38:
Chr10:49662688
CHATnot specifiedUncertain significance
(Jan 28, 2015)
criteria provided, single submitter
64.
GRCh37:
Chr10:50872912
GRCh38:
Chr10:49664866
CHATnot specifiedBenign/Likely benign
(Mar 9, 2015)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr10:50873022
GRCh38:
Chr10:49664976
CHATnot specifiedUncertain significance
(Nov 24, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr10:50873023
GRCh38:
Chr10:49664977
CHATnot specifiedLikely benigncriteria provided, single submitter
67.
GRCh37:
Chr10:50873067
GRCh38:
Chr10:49665021
CHATnot specifiedUncertain significance
(Jun 21, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr10:46210750-51753095
See casesUncertain significanceno assertion criteria provided
69.
GRCh37:
Chr10:49392896-52372011
See casesLikely pathogenicno assertion criteria provided
70.
GRCh37:
Chr10:46224446-51594991
See casesPathogenicno assertion criteria provided
71.
GRCh37:
Chr10:93297-135378918
ACADSB, ACTA2, ADAM8, ADARB2, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, ATP5C1, BMI1, BMPR1A, BNIP3, CACNB2, CALML3, CAMK2G, CASP7, ENTPD1, CDK1, CHAT, AKR1C4, CHUK, ABCC2, COL13A1, COL17A1, KLF6, MAP3K8, COX15, CPN1, CREM, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, AKR1C1, AKR1C2, DMBT1, DNA2, TRDMT1, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GAD2, GATA3, GDF2, GDF10, GDI2, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IDI1, IFIT2, IFIT1, IFIT3, IL2RA, IL15RA, INPP5A, ITGB1, ITIH2, KCNMA1, KIF5B, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PFKFB3, PFKP, PGAM1, PHYH, PIP4K2A, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKCQ, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, RSU1, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, SVIL, TACR2, TAF5, TCF7L2, ZEB1, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, VIM, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33A, ZNF33B, ZNF37A, STAM, MLLT10, CUBN, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, FZD8, UTF1, CUL2, PARG, NDST2, LIPF, ITGA8, PRPF18, AKR1C3, EIF3A, GBF1, NRP1, LDB1, CDC123, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, HACD1, LGI1, NOLC1, DLG5, PTER, NMT2, GSTO1, CHST3, BAG3, VPS26A, MINPP1, SPAG6, KIF20B, SEC24C, SH3PXD2A, FAM53B, USP6NL, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, ABI1, FRAT1, PPIF, ACTR1A, OPTN, NET1, SMNDC1, NPM3, MICU1, NEBL, PITRM1, GLRX3, RPP30, RPP38, DPYSL4, TACC2, SORBS1, ERLIN1, CELF2, LBX1, NRG3, MGEA5, YME1L1, ZMYND11, TUBGCP2, PRDX3, ADIRF, VAX1, C10orf10, ATE1, POLR3A, ZWINT, LDB3, NUDT5, SEC23IP, ECD, RAB11FIP2, CPEB3, ANKRD26, INPP5F, WDR37, ZNF365, MSRB2, SEPHS1, RAB18, DKK1, KIN, NT5C2, DIP2C, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, ABRAXAS2, LARP4B, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, COMMD3, KAT6B, TSPAN15, GTPBP4, PDSS1, IFIT5, BAMBI, DPCD, SEC31B, NUDT13, UPF2, 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, HSPA14, PLCE1, DUSP13, WAC, CHST15, SUFU, ACSL5, CALML5, PANK1, FXYD4, MYO3A, CCSER2, APBB1IP, ANKRD16, EXOC6, FAM35A, DDIT4, CCNJ, MARCH5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, FAM208B, CCDC186, CRTAC1, ARMC4, MTPAP, CEP55, SEC61A2, LRRC20, CWF19L1, OLAH, SLC29A3, RNLS, PI4K2A, MCM10, CSGALNACT2, H2AFY2, DHTKD1, HIF1AN, RUFY2, FRMD4A, WDR11, SLF2, CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, KIAA1217, PARD3, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, PRTFDC1, ENTPD7, CAMK1D, ZMIZ1, ZNF248, AS3MT, GPR158, STAMBPL1, ARHGAP21, JCAD, GPAM, SHTN1, FAM160B1, WDFY4, SFMBT2, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A, CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, DNAJC1, NOC3L, IKZF5, DCLRE1C, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, C10orf76, SUV39H2, CCDC7, ECHDC3, ASB13, HPS6, MMRN2, MFSD13A, TUBAL3, MCMBP, THNSL1, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, MINDY3, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, EPC1, TNKS2, ITIH5, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, AKR1E2, FAM107B, CCDC3, MARVELD1, SYT15, TAF3, RASSF4, LRMDA, PCGF6, ARID5B, LOXL4, ZDHHC16, FAM213A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, LYZL1, AFAP1L2, PLA2G12B, MYPN, PYROXD2, USMG5, ZNF503, AIFM2, ADO, FBXO18, ATAD1, PLXDC2, MASTL, ARHGAP19, RBM17, KNDC1, ITPRIP, MCU, ANKRD30A, ACBD5, IDI2, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, ARHGAP12, OPN4, HOGA1, UCN3, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, LYZL2, AGAP11, GSTO2, SFR1, CALHM3, CLRN3, ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, MPP7, FRMPD2, VTI1A, DYDC1, EIF5AL1, HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, C10orf128, FUT11, OIT3, C10orf91, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, C10orf107, TMEM26, ZCCHC24, ENKUR, ARMC3, UNC5B, STOX1, FAM241B, TYSND1, ZNF25, GJD4, CCNY, RTKN2, TBATA, ATOH7, OTUD1, ZNF438, SLC16A9, FAM13C, MARCH8, C10orf25, ZNF485, RASGEF1A, REEP3, JMJD1C, UCMA, C10orf111, FAM171A1, SLC39A12, NSUN6, ARL5B, BEND7, IPMK, WASHC2C, EBF3, PROSER2, CALHM1, CASC2, PTF1A, TCERG1L, C10orf67, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, MKX, C10orf126, FAM149B1, FFAR4, KCNK18, ST8SIA6, DUPD1, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, EBLN1, TUBB8, LRRTM3, PTCHD3, NHLRC2, CCDC172, C10orf113, SKIDA1, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, C1QL3, NKX1-2, CASC10, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, FAM45A, MIR107, ACBD7, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, CDNF, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, FAM196A, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, MEIG1, ANXA8, AGAP7P, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, CALML3-AS1, FAM25G, ADIRF-AS1, KLLN, PRINS, TIMM23, MTRNR2L7, MIR1915, FAS-AS1, MTRNR2L5, COMMD3-BMI1, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520
See casesPathogenicno assertion criteria provided
72.
GRCh37:
Chr10:46491169-51081560
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr10:46242057-51595050
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr10:42607635-69160433
GRCh38:
Chr10:42112187-67400675
See casesPathogenic
(Aug 20, 2012)
no assertion criteria provided
75.
GRCh37:
Chr10:46205690-51330432
GRCh38:
Chr10:45710242-49929364
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
76.
GRCh37:
Chr10:46966533-51795569
GRCh38:
Chr10:45931517-50035809
See casesUncertain significance
(Mar 18, 2014)
no assertion criteria provided
77.
GRCh37:
Chr10:46476965-51724915
GRCh38:
Chr10:45788078-50066466
See casesUncertain significance
(Dec 4, 2012)
no assertion criteria provided
78.
GRCh37:
Chr10:49002272-52458983
GRCh38:
Chr10:45999930-49937908
See casesLikely pathogenic
(Oct 24, 2012)
no assertion criteria provided
79.
GRCh37:
Chr10:46491169-51664079
GRCh38:
Chr10:45931517-49929364
See casesLikely pathogenic
(Aug 13, 2012)
no assertion criteria provided
80.
GRCh37:
Chr10:49002272-51330432
GRCh38:
Chr10:45931517-49929364
See casesLikely pathogenic
(Dec 16, 2011)
no assertion criteria provided
81.
GRCh37:
Chr10:46476965-51724915
GRCh38:
Chr10:45810008-50066466
See casesLikely pathogenic
(Jan 13, 2012)
no assertion criteria provided
82.
GRCh37:
Chr10:49299274-51187662
GRCh38:
Chr10:48084228-49929364
See casesUncertain significance
(Feb 18, 2011)
no assertion criteria provided
83.
GRCh37:
Chr10:50317458-50826916
GRCh38:
Chr10:49109413-49618870
See casesUncertain significance
(Oct 20, 2010)
no assertion criteria provided
84.
GRCh37:
Chr10:46205696-51724915
GRCh38:
Chr10:45710248-50021141
See casesPathogenic
(Oct 30, 2010)
no assertion criteria provided
85.
GRCh37:
Chr10:43180754-75475666
GRCh38:
Chr10:42685306-73715908
ALOX5, ANK3, ANXA7, CDK1, CHAT, COL13A1, DNA2, EGR2, EIF4EBP2, ERCC6, GDF2, GDF10, HK1, HNRNPF, HNRNPH3, MBL2, MSMB, NODAL, P4HA1, PCBD1, PPA1, PPP3CB, NPY4R, PRF1, SRGN, PRKG1, MAPK8, PSAP, RBP3, RET, CXCL12, SLC18A3, SUPV3L1, TACR2, TFAM, UBE2D1, ZNF22, ZNF32, CCDC6, NCOA4, SLC25A16, ZNF239, PARG, SGPL1, DDX21, CHST3, VPS26A, GPRIN2, BMS1, SPOCK2, RHOBTB1, MICU1, C10orf10, ZWINT, ECD, ZNF365, DKK1, DNAJC9, CSTF2T, SIRT1, TSPAN15, NUDT13, HERC4, PTPN20, KIF1BP, PALD1, CTNNA3, A1CF, NRBF2, NEUROG3, ASCC1, MRPS16, FXYD4, DDIT4, DNAJB12, LRRC20, SLC29A3, CSGALNACT2, H2AFY2, RUFY2, CCAR1, OGDHL, CISD1, DNAJC12, ASAH2, SAR1A, WDFY4, ARHGAP22, MYOZ1, CDH23, PBLD, NPFFR1, VSIR, PCDH15, DDX50, OR13A1, SYNPO2L, BICC1, HKDC1, TET1, SYT15, RASSF4, ARID5B, PHYHIPL, PLA2G12B, MYPN, AIFM2, ADO, JMJD1C-AS1, MCU, ZFAND4, C10orf71, MSS51, CFAP70, ZNF488, AGAP4, ANAPC16, ADAMTS14, FRMPD2, USP54, FAM170B, C10orf128, OIT3, ANTXRL, VSTM4, CABCOCO1, TMEM26, UNC5B, STOX1, FAM241B, TYSND1, RTKN2, TBATA, ATOH7, SLC16A9, FAM13C, MARCH8, C10orf25, TMEM72-AS1, ZNF485, RASGEF1A, REEP3, JMJD1C, IPMK, WASHC2C, SGMS1, PGBD3, C10orf53, LINC01553, LOC283028, LINC00841, LOC283045, FAM149B1, LRRTM3, WASHC2A, C10orf105, AGAP6, ZNF32-AS1, ZNF32-AS3, ZNF32-AS2, DNAJC9-AS1, LINC00619, LRRC18, AGAP9, ZNF487, TMEM72, FAM25E, LINC00842, FAM25C, DRGX, ANXA8, AGAP7P, ASAH2B, SNORD98, MIR605, ANXA8L1, AGAP10, UNC5B-AS1, AGAP5, C10orf142, FAM25G, TRS-TGA1-1, TIMM23, MIR1296, MIR548F1, MIR1254-1, MIR4294, MIR3156-1, MTRNR2L5, MIR3924, FAM170B-AS1, C10orf71-AS1, LINC00840, PRKG1-AS1, LINC00844, MRLN, LINC00845, MIR4676, TIMM23B, MIR5100, NPY4R2, ERCC6-PGBD3, LINC01468, TMEM26-AS1, LOC101928887, LINC01515, LOC101928961, LOC101928994, PPP3CB-AS1, LINC01518, LOC101929445, MIR7152, MIR7151, CDH23-AS1, LOC102724264, LOC102724323, LOC102724593, LOC102724719, LINC01264, SGMS1-AS1, LOC105378269, LOC105378292, LOC105378311, LOC105378330, LOC105378349, LOC105378577, CCEPR, LOC107001062
See casesPathogenic
(Sep 30, 2010)
no assertion criteria provided
86.
GRCh37:
Chr10:42890649-52636819
GRCh38:
Chr10:42395201-50877059
See casesPathogenic
(Sep 30, 2010)
no assertion criteria provided
87.
GRCh37:
Chr10:46491169-51594991
GRCh38:
Chr10:45931517-49929364
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
88.
GRCh37:
Chr10:43379742-54025077
GRCh38:
Chr10:42884294-52265317
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
89.
GRCh37:
Chr10:49430980-52415071
GRCh38:
Chr10:45931517-50655311
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
90.
GRCh37:
Chr10:49390075-52518989
GRCh38:
Chr10:45999930-49937908
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
91.
GRCh37:
Chr10:46205690-51911085
GRCh38:
Chr10:45710242-50151325
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
92.
GRCh37:
Chr10:49381674-51028871
GRCh38:
Chr10:48173631-49920071
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
93.
GRCh37:
Chr10:49201519-52415071
GRCh38:
Chr10:45999930-49937908
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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