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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:149825831-180236332
GRCh38:
Chr1:149854269-180267197
ABL2, ACKR1, ADAM15, ADAMTS4, ADAMTSL4, ADAMTSL4-AS1, ADAMTSL4-AS2, ADAR, ADCY10, AIM2, ALDH9A1, ANGPTL1, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, AQP10, ARHGAP30, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ARNT, ASH1L, ASH1L-AS1, ASTN1, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, ATP8B2, AXDND1, B4GALT3, BCAN, BCAN-AS1, BGLAP, BLZF1, BNIPL, BOLA1, BRINP2, C1orf105, C1orf112, C1orf220, C1orf226, C1orf43, C1orf54, C1orf56, C1orf68, C2CD4D, C2CD4D-AS1, CA14, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CCT3, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CDC42SE1, CELF3, CENPL, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLEC20A, CLK2, COP1, COPA, CRABP2, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CRYZL2P-SEC16B, CTSK, CTSS, CTXND2, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST1-AS1, DCST2, DDR2, DEDD, DENND4B, DNM3, DNM3-IT1, DNM3OS, DPM3, DPT, DUSP12, DUSP23, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ETV3, ETV3L, F11R, F5, FALEC, FAM163A, FAM189B, FAM20B, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FLAD1, FLG, FLG-AS1, FLG2, FLJ23867, FMO1, FMO2, FMO3, FMO4, GABPB2, GAS5, GAS5-AS1, GATAD2B, GBA, GLMP, GOLPH3L, GON4L, GORAB, GORAB-AS1, GPA33, GPATCH4, GPR161, GPR52, H2AC20, H2AC21, H2BC21, H4C15, HAPLN2, HAX1, HCN3, HDGF, HORMAD1, HRNR, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, IL6R, IL6R-AS1, ILDR2, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITLN1, ITLN2, IVL, JTB, KCNJ10, KCNJ9, KCNN3, KHDC4, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LHX4, LINC00302, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01527, LINC01645, LINC01657, LINC01675, LINC01681, LINC01704, LINC01741, LINC02772, LINC02819, LINGO4, LMNA, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100131107, LOC100505918, LOC100506023, LOC101928009, LOC101928034, LOC101928120, LOC101928177, LOC101928372, LOC101928565, LOC101928596, LOC105371433, LOC105371458, LOC106627981, LOC106627982, LOC107880064, LOC108251792, LOC108254671, LOC108281190, LOC110013312, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC110121221, LOC110121262, LOC111464988, LOC111556138, LOC111828496, LOC112543491, LOC112577492, LOC112577493, LOC112577494, LOC112577495, LOC112577503, LOC112577506, LOC112577507, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC113939980, LOC115801442, LOC115801443, LOC115801444, LOC115801445, LOC115801446, LOC115801447, LOC115801448, LOC115801449, LOC115801450, LOC115801451, LOC115801452, LOC115801453, LOC115801454, LOC115801455, LOC115801456, LOC120766158, LOC120893159, LOC120893160, LOC120893161, LOC120893162, LOC120893163, LOC120893164, LOC120893165, LOC120893166, LOC120893168, LOC729867, LORICRIN, LRRC52, LRRC52-AS1, LRRC71, LY9, LYSMD1, MAEL, MCL1, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MGST3, MINDY1, MIR12116, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR190B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4257, MIR4258, MIR4259, MIR4424, MIR4654, MIR488, MIR5187, MIR554, MIR555, MIR556, MIR557, MIR5698, MIR6737, MIR6738, MIR6878, MIR765, MIR8083, MIR9-1, MIR9-1HG, MIR921, MIR92B, MLLT11, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPL24, MRPL9, MRPS14, MRPS21, MSTO1, MTMR11, MTX1, MUC1, MYOC, MYOCOS, NAXE, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NES, NHLH1, NIT1, NME7, NOS1AP, NPHS2, NPR1, NR1I3, NTMT2, NTRK1, NUF2, NUP210L, OAZ3, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PAPPA2, PAQR6, PBX1, PBX1-AS1, PBXIP1, PCP4L1, PEA15, PEAR1, PEX19, PFDN2, PGLYRP3, PGLYRP4, PI4KB, PIGC, PIGM, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POU2F1, PPOX, PRCC, PRDX6, PRDX6-AS1, PRPF3, PRR9, PRRC2C, PRRX1, PRUNE1, PSMB4, PSMD4, PYDC5, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RCSD1, RFX5, RFX5-AS1, RGS4, RGS5, RGS5-AS1, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, RXRG, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCARNA26A, SCARNA26B, SCARNA3, SCARNA4, SCNM1, SCYL3, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHE, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SLC9C2, SMCP, SMG5, SNAPIN, SNHG28, SNORA103, SNORA58B, SNORA80E, SNORD13C, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SNX27, SOAT1, SPATA46, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPTA1, SSR2, STYXL2, SUCO, SV2A, SYT11, TADA1, TAGLN2, TARS2, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TDRKH-AS1, TEX35, TEX50, THBS3, THBS3-AS1, THEM4, THEM5, TIPRL, TMCO1, TMCO1-AS1, TMEM79, TMOD4, TNFAIP8L2, TNFAIP8L2-SCNM1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TPM3, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRIM46, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TRX-CAT1-1, TSACC, TSTD1, TTC24, TUFT1, UAP1, UBAP2L, UBE2Q1, UBE2Q1-AS1, UBQLN4, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VHLL, VPS45, VPS72, VSIG8, XCL1, XCL2, YY1AP1, ZBTB37, ZBTB7B, ZNF687, ZNF687-AS1
See casesPathogenic
(Jul 16, 2013)
no assertion criteria providedVCV000155448
2.
GRCh37:
Chr1:154538977-157593874
GRCh38:
Chr1:154566501-157624084
See casesPathogenic
(Mar 19, 2013)
no assertion criteria providedVCV000151159
3.
GRCh37:
Chr1:156785356
GRCh38:
Chr1:156815564
NTRK1, SH2D2Anot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000667736
4.
GRCh37:
Chr1:156785545
GRCh38:
Chr1:156815753
NTRK1, SH2D2Anot providedBenign
(Mar 26, 2020)
criteria provided, single submitterVCV001221990
5.
GRCh37:
Chr1:156785617
GRCh38:
Chr1:156815825
NTRK1, SH2D2Anot specified, Hereditary insensitivity to pain with anhidrosisBenign
(Jul 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000380853
6.
GRCh37:
Chr1:156785733
GRCh38:
Chr1:156815941
NTRK1, SH2D2Anot providedLikely benign
(Oct 25, 2018)
criteria provided, single submitterVCV001200010
7.
GRCh37:
Chr1:156785763
GRCh38:
Chr1:156815971
NTRK1, SH2D2Anot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV001225268
8.
GRCh37:
Chr1:156785771
GRCh38:
Chr1:156815979
NTRK1, SH2D2Anot provided, Hereditary insensitivity to pain with anhidrosisBenign
(Jul 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000667767
9.
GRCh37:
Chr1:156785779
GRCh38:
Chr1:156815987
SH2D2A, NTRK1Hereditary insensitivity to pain with anhidrosis, not providedBenign
(Jul 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000667768
10.
GRCh37:
Chr1:156785810
GRCh38:
Chr1:156816018
SH2D2A, NTRK1not providedLikely benign
(Apr 1, 2021)
criteria provided, single submitterVCV001176211
11.
GRCh37:
Chr1:156785837
GRCh38:
Chr1:156816045
SH2D2A, NTRK1not providedLikely benign
(Jun 1, 2021)
criteria provided, single submitterVCV001176836
12.
GRCh37:
Chr1:156810798
GRCh38:
Chr1:156841006
INSRR, NTRK1F1254SHereditary insensitivity to pain with anhidrosisUncertain significance
(May 28, 2019)
criteria provided, single submitterVCV000801559
13.
GRCh37:
Chr1:156810901
GRCh38:
Chr1:156841109
INSRR, NTRK1not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000775609
14.
GRCh37:
Chr1:156811310-156811311
GRCh38:
Chr1:156841518-156841519
NTRK1, INSRRV1180fsFamilial medullary thyroid carcinomaUncertain significance
(Jul 2, 2018)
criteria provided, single submitterVCV000584589
15.
GRCh37:
Chr1:156811471
GRCh38:
Chr1:156841679
INSRR, NTRK1not providedLikely benign
(Jun 15, 2018)
criteria provided, single submitterVCV000727965
16.
GRCh37:
Chr1:156811806
GRCh38:
Chr1:156842014
NTRK1, INSRRnot providedLikely benign
(May 19, 2019)
criteria provided, single submitterVCV001215621
17.
GRCh37:
Chr1:156811887
GRCh38:
Chr1:156842095
NTRK1, INSRRC8*Hereditary insensitivity to pain with anhidrosisUncertain significance
(Nov 13, 2017)
criteria provided, single submitterVCV000555070
18.
GRCh37:
Chr1:156811895
GRCh38:
Chr1:156842103
NTRK1, INSRRP11LHereditary insensitivity to pain with anhidrosis, Familial medullary thyroid carcinomaUncertain significance
(May 28, 2019)
criteria provided, single submitterVCV000584590
19.
GRCh37:
Chr1:156811896
GRCh38:
Chr1:156842104
NTRK1, INSRRHereditary insensitivity to pain with anhidrosisUncertain significance
(May 30, 2017)
criteria provided, single submitterVCV000552224
20.
GRCh37:
Chr1:156811900
GRCh38:
Chr1:156842108
NTRK1, INSRRV13fsFamilial medullary thyroid carcinomaUncertain significance
(Jul 2, 2018)
criteria provided, single submitterVCV000584591
21.
GRCh37:
Chr1:156811935
GRCh38:
Chr1:156842143
INSRR, NTRK1M1122Inot providedUncertain significance
(Nov 15, 2019)
criteria provided, single submitterVCV001310344
22.
GRCh37:
Chr1:156811982
GRCh38:
Chr1:156842190
INSRR, NTRK1A40E, A1107SFamilial medullary thyroid carcinoma, not providedUncertain significance
(Oct 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000584592
23.
GRCh37:
Chr1:156812036
GRCh38:
Chr1:156842244
NTRK1, INSRRnot providedLikely benign
(Jun 1, 2021)
criteria provided, single submitterVCV001176837
24.
GRCh37:
Chr1:156812145
GRCh38:
Chr1:156842353
NTRK1, INSRRnot providedLikely benign
(Aug 30, 2018)
criteria provided, single submitterVCV001187999
25.
GRCh37:
Chr1:156814014
GRCh38:
Chr1:156844222
NTRK1, INSRRnot providedLikely benign
(Jun 1, 2021)
criteria provided, single submitterVCV001176838
26.
GRCh37:
Chr1:156814027
GRCh38:
Chr1:156844235
INSRR, NTRK1P928LHereditary insensitivity to pain with anhidrosisBenign
(May 28, 2019)
criteria provided, single submitterVCV000801560
27.
GRCh37:
Chr1:156815016
GRCh38:
Chr1:156845224
INSRR, NTRK1not providedBenign
(Jul 23, 2018)
criteria provided, single submitterVCV000791814
28.
GRCh37:
Chr1:156815916
GRCh38:
Chr1:156846124
NTRK1, INSRRnot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000735501
29.
GRCh37:
Chr1:156816336
GRCh38:
Chr1:156846544
INSRR, NTRK1not providedLikely benign
(May 1, 2021)
criteria provided, single submitterVCV001176839
30.
GRCh37:
Chr1:156816461
GRCh38:
Chr1:156846669
NTRK1, INSRRR554CHereditary insensitivity to pain with anhidrosisLikely benign
(May 28, 2019)
criteria provided, single submitterVCV000801561
31.
GRCh37:
Chr1:156819201
GRCh38:
Chr1:156849409
NTRK1, INSRRnot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000731064
32.
GRCh37:
Chr1:156821198
GRCh38:
Chr1:156851406
NTRK1, INSRRnot providedBenign
(Jul 23, 2018)
criteria provided, single submitterVCV000712088
33.
GRCh37:
Chr1:156821786
GRCh38:
Chr1:156851994
NTRK1, INSRRR279Cnot providedLikely benign
(Jul 31, 2018)
criteria provided, single submitterVCV000736971
34.
GRCh37:
Chr1:156821846
GRCh38:
Chr1:156852054
INSRR, NTRK1not providedLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000722649
35.
GRCh37:
Chr1:156821885
GRCh38:
Chr1:156852093
INSRR, NTRK1C246RHereditary insensitivity to pain with anhidrosisLikely benign
(May 28, 2019)
criteria provided, single submitterVCV000801562
36.
GRCh37:
Chr1:156823775
GRCh38:
Chr1:156853983
INSRR, NTRK1R136Cnot providedUncertain significance
(Jun 1, 2021)
criteria provided, single submitterVCV001176840
37.
GRCh37:
Chr1:156823922
GRCh38:
Chr1:156854130
NTRK1, INSRRR87Cnot providedLikely benign
(Jun 15, 2018)
criteria provided, single submitterVCV000741418
38.
GRCh37:
Chr1:156830486
GRCh38:
Chr1:156860694
NTRK1not providedBenign
(Jan 6, 2019)
criteria provided, single submitterVCV001269629
39.
GRCh37:
Chr1:156830535
GRCh38:
Chr1:156860743
NTRK1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitterVCV001208641
40.
GRCh37:
Chr1:156830683
GRCh38:
Chr1:156860891
NTRK1not specifiedLikely benign
(Jun 6, 2016)
criteria provided, single submitterVCV000386756
41.
GRCh37:
Chr1:156830688
GRCh38:
Chr1:156860896
NTRK1not providedLikely benign
(Feb 5, 2021)
criteria provided, single submitterVCV000378305
42.
GRCh37:
Chr1:156830699
GRCh38:
Chr1:156860907
NTRK1not specifiedLikely benign
(Dec 26, 2017)
criteria provided, single submitterVCV000514261
43.
GRCh37:
Chr1:156830727
GRCh38:
Chr1:156860935
NTRK1M1LHereditary insensitivity to pain with anhidrosisPathogenic
(Nov 28, 2018)
criteria provided, single submitterVCV000931321
44.
GRCh37:
Chr1:156830733
GRCh38:
Chr1:156860941
NTRK1R3GHereditary insensitivity to pain with anhidrosisUncertain significance
(Apr 17, 2020)
no assertion criteria providedVCV000991730
45.
GRCh37:
Chr1:156830736
GRCh38:
Chr1:156860944
NTRK1G4SHereditary insensitivity to pain with anhidrosis, not providedConflicting interpretations of pathogenicity
(Dec 7, 2020)
criteria provided, conflicting interpretationsVCV000289495
46.
GRCh37:
Chr1:156830738
GRCh38:
Chr1:156860946
NTRK1Hereditary insensitivity to pain with anhidrosisUncertain significance
(Nov 28, 2017)
criteria provided, single submitterVCV000526726
47.
GRCh37:
Chr1:156830742
GRCh38:
Chr1:156860950
NTRK1R6WHereditary insensitivity to pain with anhidrosis, not specified, not provided
Conflicting interpretations of pathogenicity
(Sep 1, 2021)
criteria provided, conflicting interpretationsVCV000234386
48.
GRCh37:
Chr1:156830748
GRCh38:
Chr1:156860956
NTRK1G8RHereditary insensitivity to pain with anhidrosisUncertain significance
(Aug 14, 2019)
criteria provided, single submitterVCV000965318
49.
GRCh37:
Chr1:156830751
GRCh38:
Chr1:156860959
NTRK1Q9*Hereditary insensitivity to pain with anhidrosisPathogenic
(Aug 5, 2008)
no assertion criteria providedVCV000038360
50.
GRCh37:
Chr1:156830758
GRCh38:
Chr1:156860966
NTRK1G11AHereditary insensitivity to pain with anhidrosisUncertain significance
(Nov 5, 2019)
criteria provided, single submitterVCV000940376
51.
GRCh37:
Chr1:156830777
GRCh38:
Chr1:156860985
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Jan 3, 2020)
criteria provided, single submitterVCV001090558
52.
GRCh37:
Chr1:156830779
GRCh38:
Chr1:156860987
NTRK1G18EHereditary insensitivity to pain with anhidrosis, not specified, not provided
Conflicting interpretations of pathogenicity
(May 18, 2021)
criteria provided, conflicting interpretationsVCV000193129
53.
GRCh37:
Chr1:156830780
GRCh38:
Chr1:156860988
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Nov 10, 2019)
criteria provided, single submitterVCV001110659
54.
GRCh37:
Chr1:156830783
GRCh38:
Chr1:156860991
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Oct 13, 2020)
criteria provided, single submitterVCV001137336
55.
GRCh37:
Chr1:156830783
GRCh38:
Chr1:156860991
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Feb 24, 2020)
criteria provided, single submitterVCV001099216
56.
GRCh37:
Chr1:156830791
GRCh38:
Chr1:156860999
NTRK1L22QHereditary insensitivity to pain with anhidrosisUncertain significance
(Jun 14, 2019)
criteria provided, single submitterVCV000456622
57.
GRCh37:
Chr1:156830792
GRCh38:
Chr1:156861000
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Apr 18, 2019)
criteria provided, single submitterVCV001085124
58.
GRCh37:
Chr1:156830814
GRCh38:
Chr1:156861022
NTRK1S30PHereditary insensitivity to pain with anhidrosisUncertain significance
(Jul 26, 2019)
criteria provided, single submitterVCV000664786
59.
GRCh37:
Chr1:156830818
GRCh38:
Chr1:156861026
NTRK1A31Vnot providedUncertain significance
(Oct 20, 2020)
criteria provided, single submitterVCV001313367
60.
GRCh37:
Chr1:156830825
GRCh38:
Chr1:156861033
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Nov 3, 2020)
criteria provided, single submitterVCV001150114
61.
GRCh37:
Chr1:156830828
GRCh38:
Chr1:156861036
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Nov 22, 2019)
criteria provided, single submitterVCV001108594
62.
GRCh37:
Chr1:156830829
GRCh38:
Chr1:156861037
NTRK1P35SHereditary insensitivity to pain with anhidrosisUncertain significance
(Dec 13, 2019)
criteria provided, single submitterVCV000847162
63.
GRCh37:
Chr1:156830837
GRCh38:
Chr1:156861045
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Feb 5, 2020)
criteria provided, single submitterVCV001100749
64.
GRCh37:
Chr1:156830842
GRCh38:
Chr1:156861050
NTRK1A39DHereditary insensitivity to pain with anhidrosisUncertain significance
(Mar 6, 2020)
criteria provided, single submitterVCV000991731
65.
GRCh37:
Chr1:156830843
GRCh38:
Chr1:156861051
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Dec 23, 2019)
criteria provided, single submitterVCV001120409
66.
GRCh37:
Chr1:156830843
GRCh38:
Chr1:156861051
NTRK1not provided, Hereditary insensitivity to pain with anhidrosis, not specified
Likely benign
(Dec 4, 2020)
criteria provided, single submitterVCV000705137
67.
GRCh37:
Chr1:156830845-156830846
GRCh38:
Chr1:156861053-156861054
NTRK1C41fsnot providedLikely pathogenic
(May 15, 2017)
criteria provided, single submitterVCV000429790
68.
GRCh37:
Chr1:156830857
GRCh38:
Chr1:156861065
NTRK1G44DHereditary insensitivity to pain with anhidrosisUncertain significance
(Mar 13, 2019)
criteria provided, single submitterVCV000843966
69.
GRCh37:
Chr1:156830864
GRCh38:
Chr1:156861072
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Nov 14, 2020)
criteria provided, single submitterVCV000736602
70.
GRCh37:
Chr1:156830866
GRCh38:
Chr1:156861074
NTRK1G47AHereditary insensitivity to pain with anhidrosisUncertain significance
(Jun 28, 2019)
criteria provided, single submitterVCV000526732
71.
GRCh37:
Chr1:156830874
GRCh38:
Chr1:156861082
NTRK1C50RHereditary insensitivity to pain with anhidrosisUncertain significance
(Feb 26, 2019)
criteria provided, single submitterVCV000841835
72.
GRCh37:
Chr1:156830878
GRCh38:
Chr1:156861086
NTRK1T51IHereditary insensitivity to pain with anhidrosisUncertain significance
(Dec 17, 2018)
criteria provided, single submitterVCV000642171
73.
GRCh37:
Chr1:156830883
GRCh38:
Chr1:156861091
NTRK1D53NHereditary insensitivity to pain with anhidrosisUncertain significance
(May 13, 2019)
criteria provided, single submitterVCV000661248
74.
GRCh37:
Chr1:156830883
GRCh38:
Chr1:156861091
NTRK1D53HHereditary insensitivity to pain with anhidrosis, not providedConflicting interpretations of pathogenicity
(Apr 1, 2021)
criteria provided, conflicting interpretationsVCV000292871
75.
GRCh37:
Chr1:156830890
GRCh38:
Chr1:156861098
NTRK1A55DHereditary insensitivity to pain with anhidrosisUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV000936750
76.
GRCh37:
Chr1:156830909
GRCh38:
Chr1:156861117
NTRK1Hereditary insensitivity to pain with anhidrosis, not providedLikely benign
(Jun 1, 2018)
criteria provided, single submitterVCV000762815
77.
GRCh37:
Chr1:156830911
GRCh38:
Chr1:156861119
NTRK1L62Pnot provided, Hereditary insensitivity to pain with anhidrosisUncertain significance
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000573468
78.
GRCh37:
Chr1:156830912
GRCh38:
Chr1:156861120
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Apr 1, 2019)
criteria provided, single submitterVCV001094442
79.
GRCh37:
Chr1:156830915
GRCh38:
Chr1:156861123
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Jul 16, 2020)
criteria provided, single submitterVCV001092947
80.
GRCh37:
Chr1:156830919
GRCh38:
Chr1:156861127
NTRK1A65THereditary insensitivity to pain with anhidrosisUncertain significance
(Dec 28, 2019)
criteria provided, single submitterVCV000859767
81.
GRCh37:
Chr1:156830923
GRCh38:
Chr1:156861131
NTRK1E66GHereditary insensitivity to pain with anhidrosisUncertain significance
(Jul 10, 2020)
criteria provided, single submitterVCV000963081
82.
GRCh37:
Chr1:156830927
GRCh38:
Chr1:156861135
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Mar 18, 2020)
criteria provided, single submitterVCV001145573
83.
GRCh37:
Chr1:156830928
GRCh38:
Chr1:156861136
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV001111320
84.
GRCh37:
Chr1:156830928
GRCh38:
Chr1:156861136
NTRK1L68VHereditary insensitivity to pain with anhidrosisUncertain significance
(Mar 14, 2018)
criteria provided, single submitterVCV000578718
85.
GRCh37:
Chr1:156830933-156830934
GRCh38:
Chr1:156861141-156861142
NTRK1E70fsHereditary insensitivity to pain with anhidrosisPathogenic
(Mar 1, 2009)
no assertion criteria providedVCV000029920
86.
GRCh37:
Chr1:156830948
GRCh38:
Chr1:156861156
NTRK1not provided, Hereditary insensitivity to pain with anhidrosis, not specified
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000292872
87.
GRCh37:
Chr1:156831045
GRCh38:
Chr1:156861253
NTRK1not providedLikely benign
(Feb 16, 2019)
criteria provided, single submitterVCV001195247
88.
GRCh37:
Chr1:156831061-156831091
GRCh38:
Chr1:156861269-156861299
NTRK1not providedBenign
(Nov 28, 2018)
criteria provided, single submitterVCV001249089
89.
GRCh37:
Chr1:156831094
GRCh38:
Chr1:156861302
NTRK1not providedBenign
(Jan 6, 2019)
criteria provided, single submitterVCV001246925
90.
GRCh37:
Chr1:156831175
GRCh38:
Chr1:156861383
NTRK1not providedLikely benign
(Aug 7, 2018)
criteria provided, single submitterVCV001203315
91.
GRCh37:
Chr1:156833913
GRCh38:
Chr1:156864121
NTRK1not providedBenign
(Jun 16, 2018)
criteria provided, single submitterVCV000677592
92.
GRCh37:
Chr1:156834137
GRCh38:
Chr1:156864345
NTRK1not provided, Hereditary insensitivity to pain with anhidrosisLikely benign
(Feb 27, 2018)
criteria provided, single submitterVCV000750061
93.
GRCh37:
Chr1:156834138
GRCh38:
Chr1:156864346
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000748339
94.
GRCh37:
Chr1:156834140
GRCh38:
Chr1:156864348
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Jun 30, 2020)
criteria provided, single submitterVCV001130140
95.
GRCh37:
Chr1:156834141
GRCh38:
Chr1:156864349
NTRK1Hereditary insensitivity to pain with anhidrosisConflicting interpretations of pathogenicity
(Aug 20, 2020)
criteria provided, conflicting interpretationsVCV000875599
96.
GRCh37:
Chr1:156834143
GRCh38:
Chr1:156864351
NTRK1not providedLikely pathogenic
(Jan 29, 2020)
criteria provided, single submitterVCV001191075
97.
GRCh37:
Chr1:156834152
GRCh38:
Chr1:156864360
NTRK1Hereditary insensitivity to pain with anhidrosisLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV000705708
98.
GRCh37:
Chr1:156834157-156834158
GRCh38:
Chr1:156864365-156864366
NTRK1Q47fs, Q77fsHereditary insensitivity to pain with anhidrosisPathogenic
(Jan 12, 2019)
criteria provided, single submitterVCV000862988
99.
GRCh37:
Chr1:156834161-156834169
GRCh38:
Chr1:156864369-156864377
NTRK1Hereditary insensitivity to pain with anhidrosisUncertain significance
(Aug 4, 2019)
criteria provided, single submitterVCV000938108
100.
GRCh37:
Chr1:156834162
GRCh38:
Chr1:156864370
NTRK1Q47*, Q77*Hereditary insensitivity to pain with anhidrosisPathogenic
(Aug 14, 2020)
criteria provided, single submitterVCV001072190
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