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Items: 1 to 100 of 259

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:149825831-180236332
GRCh38:
Chr1:149854269-180267197
ABL2, ACKR1, ADAM15, ADAM15-EFNA4, 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, BCAN-AS2, BGLAP, BLZF1, BNIPL, BOLA1, BRINP2, C1orf105, C1orf220, C1orf226, C1orf43, C1orf54, C1orf56, 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, EFNA4-EFNA3, ENSA, ENTREP3, ETV3, ETV3L, F11R, F5, FALEC, FAM163A, FAM20B, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FIRRM, FLAD1, FLG, FLG-AS1, FLG2, FLJ23867, FMO1, FMO2, FMO3, FMO4, GABPB2, GAS5, GAS5-AS1, GATAD2B, GBA1, 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, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCE7A, LELP1, LENEP, LHX4, LINC00302, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01527, LINC01645, LINC01657, LINC01675, LINC01681, LINC01704, LINC01741, LINC02772, LINC02819, LINC02988, LINGO4, LMNA, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100131107, LOC100505918, LOC100506023, LOC101928009, LOC101928034, LOC101928120, LOC101928177, LOC101928372, LOC101928565, LOC101928596, 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, LOC121725054, LOC121725055, LOC121725056, LOC121725058, LOC121725059, LOC121725060, LOC121725061, LOC121725062, LOC121725063, LOC121725064, LOC122128421, LOC122128422, LOC122128423, LOC122128424, LOC122128425, LOC122128426, LOC122128427, LOC122128428, LOC122128429, LOC122128430, LOC122128431, LOC122128432, LOC122128433, LOC122128434, LOC122128435, LOC122128436, LOC122128437, LOC122128438, LOC122128439, LOC122128440, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC122128447, LOC122128448, LOC122128449, LOC122128450, LOC122128451, LOC122128452, LOC122128453, LOC122128454, LOC122128455, LOC122128456, LOC122128457, LOC122128458, LOC122128459, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC125312414, LOC126805855, LOC126805856, LOC126805857, LOC126805858, LOC126805859, LOC126805860, LOC126805861, LOC126805862, LOC126805863, LOC126805864, LOC126805865, LOC126805866, LOC126805867, LOC126805868, LOC126805869, LOC126805870, LOC126805871, LOC126805872, LOC126805873, LOC126805874, LOC126805875, LOC126805876, LOC126805877, LOC126805878, LOC126805879, LOC126805880, LOC126805881, LOC126805882, LOC126805883, LOC126805884, LOC126805885, LOC126805886, LOC126805887, LOC126805888, LOC126805889, LOC126805890, LOC126805891, LOC126805892, LOC126805893, LOC126805894, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC126805929, LOC126805930, LOC126805931, LOC126805932, LOC126805933, LOC126805934, LOC126805935, LOC126805936, LOC126805937, LOC126805938, LOC127814295, LOC128071543, LOC128772199, LOC128772200, LOC128772201, LOC128772202, LOC128772203, LOC128772204, LOC128772205, LOC128772206, LOC128772207, LOC128772208, LOC128772209, LOC128772210, LOC128772211, LOC128772212, LOC128772213, LOC128772214, LOC128772215, LOC128772216, LOC128772217, LOC128772218, LOC128772219, LOC128772220, LOC128772221, LOC128772222, LOC128772223, LOC128772224, LOC128772225, LOC128772226, LOC128772227, LOC128772228, LOC128772229, LOC128772230, LOC128772231, LOC128779115, LOC128781584, LOC128822934, 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, SMIM42, 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, SPRR5, 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 provided
2.
GRCh37:
Chr1:154538977-157593874
GRCh38:
Chr1:154566501-157624084
MSTO1, MTX1, MUC1, NAXE, NES, NTRK1, PAQR6, PBXIP1, PEAR1, PKLR, PMF1, PMF1-BGLAP, PMVK, PRCC, PYGO2, RAB25, RHBG, RIT1, RUSC1, RUSC1-AS1, RXFP4, SCAMP3, SCARNA26A, SCARNA26B, SCARNA4, SEMA4A, SH2D2A, SHC1, SLC25A44, SLC50A1, SMG5, SNORA80E, SSR2, SYT11, THBS3, THBS3-AS1, TMEM79, TRIM46, TSACC, TTC24, UBQLN4, VHLL, YY1AP1, ZBTB7B, ADAM15, ADAM15-EFNA4, ADAR, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ASH1L, ASH1L-AS1, BCAN, BCAN-AS1, BCAN-AS2, BGLAP, CCT3, CHRNB2, CKS1B, CLK2, CRABP2, DAP3, DCST1, DCST1-AS1, DCST2, DPM3, EFNA1, EFNA3, EFNA4, EFNA4-EFNA3, ENTREP3, ETV3, ETV3L, FCRL4, FCRL5, FDPS, FLAD1, GBA1, GLMP, GON4L, GPATCH4, HAPLN2, HCN3, HDGF, INSRR, IQGAP3, ISG20L2, KCNN3, KHDC4, KRTCAP2, LAMTOR2, LENEP, LINC02772, LMNA, LOC101928120, LOC101928177, LOC106627981, LOC106627982, LOC110013312, LOC110121221, LOC110121262, LOC111828496, LOC112577495, LOC115801448, LOC115801449, LOC120893161, LOC120893162, LOC120893163, LOC121725059, LOC122128435, LOC122128436, LOC122128437, LOC122128438, LOC122128439, LOC122128440, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC122128447, LOC122128448, LOC122128449, LOC122128450, LOC126805874, LOC126805875, LOC126805876, LOC126805877, LOC126805878, LOC126805879, LOC126805880, LOC126805881, LOC126805882, LOC128772231, LRRC71, MEF2D, METTL25B, MEX3A, MIR4258, MIR555, MIR6738, MIR765, MIR9-1, MIR9-1HG, MIR92B, MRPL24
See casesPathogenic
(Mar 19, 2013)		no assertion criteria provided
3.
GRCh37:
Chr1:155804210-156403997
GRCh38:
Chr1:155834419-156434205
ARHGEF2, ARHGEF2-AS2, BGLAP, CCT3, GLMP, GON4L, KHDC4, LAMTOR2, LMNA, LOC110013312, LOC110121262, LOC111828496, LOC115801448, LOC120893162, LOC121725059, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC126805876, LOC126805877, MEX3A, MIR6738, MIR9-1, MIR9-1HG, PAQR6, PMF1, PMF1-BGLAP, RAB25, RHBG, RIT1, RXFP4, SCARNA4, SEMA4A, SLC25A44, SMG5, SNORA80E, SSR2, SYT11, TMEM79, TSACC, UBQLN4, VHLL
See casesUncertain significance
(Oct 24, 2012)		no assertion criteria provided
4.
GRCh37:
Chr1:155870169-156108907
GRCh38:
Chr1:155900378-156139116
SSR2, UBQLN4, ARHGEF2, ARHGEF2-AS2, KHDC4, LAMTOR2, LMNA, LOC110121262, LOC120893162, LOC121725059, LOC122128442, LOC122128443, LOC122128444, LOC126805876, LOC126805877, MEX3A, MIR6738, RAB25, RIT1, RXFP4, SCARNA4, SNORA80E
Charcot-Marie-Tooth disease type 2Uncertain significance
(Nov 2, 2018)		criteria provided, single submitter
5.
GRCh37:
Chr1:155870170
GRCh38:
Chr1:155900379
RIT1not providedLikely benign
(Feb 9, 2023)		criteria provided, single submitter
6.
GRCh37:
Chr1:155870171-155870175
GRCh38:
Chr1:155900380-155900384
RIT1not specifiedUncertain significance
(Apr 26, 2021)		criteria provided, single submitter
7.
GRCh37:
Chr1:155870189
GRCh38:
Chr1:155900398
RIT1S181*, S217*, S234*Noonan syndrome 8Uncertain significance
(Jun 21, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr1:155870190-155870191
GRCh38:
Chr1:155900399-155900400
RIT1not specifiedUncertain significance
(Apr 20, 2020)		criteria provided, single submitter
9.
GRCh37:
Chr1:155870190
GRCh38:
Chr1:155900399
RIT1S217fs, S234fs, S181fsNoonan syndrome 8Uncertain significance
(May 1, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr1:155870192-155870195
GRCh38:
Chr1:155900401-155900404
RIT1K215fs, K232fs, K179fsCardiovascular phenotype, Noonan syndrome 8, not provided
Conflicting interpretations of pathogenicity
(Mar 2, 2023)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr1:155870193
GRCh38:
Chr1:155900402
RIT1D233N, D180N, D216NCardiovascular phenotype, Noonan syndrome 8Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:155870194
GRCh38:
Chr1:155900403
RIT1D180fs, D233fs, D216fsNoonan syndrome 8Uncertain significance
(Oct 30, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr1:155870200
GRCh38:
Chr1:155900409
RIT1Noonan syndrome 8, not specifiedLikely benign
(Jul 2, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:155870204
GRCh38:
Chr1:155900413
RIT1R176Q, R212Q, R229QNoonan syndrome and Noonan-related syndrome, Noonan syndrome 8, Cardiovascular phenotype
Uncertain significance
(Jul 29, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:155870205
GRCh38:
Chr1:155900414
RIT1R212W, R176W, R229WNoonan syndrome 8, not specified, Noonan syndrome and Noonan-related syndrome,
not provided, Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Sep 28, 2022)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr1:155870221
GRCh38:
Chr1:155900430
RIT1R206S, R170S, R223SNoonan syndrome 8Uncertain significance
(Mar 8, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr1:155870222
GRCh38:
Chr1:155900431
RIT1R223T, R170T, R206TNoonan syndrome 8Uncertain significance
(Oct 9, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr1:155870224
GRCh38:
Chr1:155900433
RIT1K205N, K169N, K222NCardiovascular phenotypeUncertain significance
(Oct 2, 2019)		criteria provided, single submitter
19.
GRCh37:
Chr1:155870230
GRCh38:
Chr1:155900439
RIT1Cardiovascular phenotype, Noonan syndrome 8Likely benign
(May 1, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:155870232
GRCh38:
Chr1:155900441
RIT1V167I, V203I, V220INoonan syndrome 8Uncertain significance
(Apr 11, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr1:155870235
GRCh38:
Chr1:155900444
RIT1S202C, S219C, S166Cnot specifiedUncertain significance
(Nov 13, 2015)		criteria provided, single submitter
22.
GRCh37:
Chr1:155870236
GRCh38:
Chr1:155900445
RIT1Noonan syndrome 8Likely benign
(Jun 19, 2019)		criteria provided, single submitter
23.
GRCh37:
Chr1:155870237
GRCh38:
Chr1:155900446
RIT1N218S, N201S, N165SNoonan syndrome 8, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Jun 6, 2022)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr1:155870241
GRCh38:
Chr1:155900450
RIT1K164Q, K200Q, K217QNoonan syndrome 8Uncertain significance
(Jul 12, 2022)		criteria provided, single submitter
25.
GRCh37:
Chr1:155870245
GRCh38:
Chr1:155900454
RIT1not provided, Cardiovascular phenotype, Noonan syndrome 8
Likely benign
(Dec 12, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:155870250
GRCh38:
Chr1:155900459
RIT1S161P, S197P, S214Pnot specified, Noonan syndrome 8Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:155870251
GRCh38:
Chr1:155900460
RIT1K160N, K196N, K213NCardiovascular phenotypeUncertain significance
(Jan 7, 2020)		criteria provided, single submitter
28.
GRCh37:
Chr1:155870252
GRCh38:
Chr1:155900461
RIT1K160T, K196T, K213TNoonan syndrome 8Uncertain significance
(Sep 23, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr1:155870264
GRCh38:
Chr1:155900473
RIT1A192V, A156V, A209VNoonan syndrome 8, not providedUncertain significance
(Jul 27, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:155870266
GRCh38:
Chr1:155900475
RIT1Cardiovascular phenotypeLikely benign
(Aug 24, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr1:155870267
GRCh38:
Chr1:155900476
RIT1L208Q, L155Q, L191QNoonan syndrome 8Uncertain significance
(Jul 23, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr1:155870269
GRCh38:
Chr1:155900478
RIT1Noonan syndrome 8Likely benign
(Aug 7, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr1:155870273
GRCh38:
Chr1:155900482
RIT1A189V, A153V, A206VNoonan syndrome 8Uncertain significance
(Mar 16, 2022)		criteria provided, single submitter
34.
GRCh37:
Chr1:155870275
GRCh38:
Chr1:155900484
RIT1Noonan syndrome 8Likely benign
(Apr 6, 2021)		criteria provided, single submitter
35.
GRCh37:
Chr1:155870280
GRCh38:
Chr1:155900489
RIT1K151Q, K187Q, K204QNoonan syndrome 8Uncertain significance
(Aug 10, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr1:155870287
GRCh38:
Chr1:155900496
RIT1Noonan syndrome 8Likely benign
(Oct 13, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr1:155870288
GRCh38:
Chr1:155900497
RIT1R184M, R201M, R148Mnot providedUncertain significance
(Mar 5, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr1:155870289
GRCh38:
Chr1:155900498
RIT1R148G, R184G, R201GNoonan syndrome 8Uncertain significance
(Apr 25, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr1:155870291
GRCh38:
Chr1:155900500
RIT1R183H, R200H, R147HNoonan syndrome 8Uncertain significance
(Nov 11, 2021)		criteria provided, single submitter
40.
GRCh37:
Chr1:155870292
GRCh38:
Chr1:155900501
RIT1R183G, R147G, R200Gnot providedUncertain significance
(Jan 12, 2017)		criteria provided, single submitter
41.
GRCh37:
Chr1:155870293
GRCh38:
Chr1:155900502
RIT1I146M, I182M, I199Mnot provided, Noonan syndrome 8Uncertain significance
(Feb 28, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:155870299
GRCh38:
Chr1:155900508
RIT1Noonan syndrome 8, Cardiovascular phenotypeLikely benign
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:155870300
GRCh38:
Chr1:155900509
RIT1R180Q, R197Q, R144QNoonan syndrome 8, not specified, Inborn genetic diseases
Uncertain significance
(Apr 22, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:155870301
GRCh38:
Chr1:155900510
RIT1R180W, R197W, R144WCardiovascular phenotypeUncertain significance
(Nov 5, 2021)		criteria provided, single submitter
45.
GRCh37:
Chr1:155870304
GRCh38:
Chr1:155900513
RIT1V143I, V179I, V196INoonan syndrome 8, Cardiovascular phenotypeUncertain significance
(Oct 10, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:155870307
GRCh38:
Chr1:155900516
RIT1L178V, L142V, L195Vnot specified, Cardiovascular phenotype, Noonan syndrome 8
Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:155870308
GRCh38:
Chr1:155900517
RIT1Noonan syndrome 8Likely benign
(Jul 29, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr1:155870323
GRCh38:
Chr1:155900532
RIT1Cardiovascular phenotype, Noonan syndrome 8Likely benign
(May 8, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:155870328
GRCh38:
Chr1:155900537
RIT1I135V, I171V, I188Vnot providedUncertain significance
(Jun 13, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr1:155870329
GRCh38:
Chr1:155900538
RIT1Noonan syndrome 8Likely benign
(Jun 8, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr1:155870331
GRCh38:
Chr1:155900540
RIT1Y170H, Y134H, Y187Hnot providedUncertain significance
(Mar 13, 2017)		criteria provided, single submitter
52.
GRCh37:
Chr1:155870333
GRCh38:
Chr1:155900542
RIT1Y133C, Y169C, Y186Cnot specified, Noonan syndrome 8Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:155870336
GRCh38:
Chr1:155900545
RIT1R185H, R132H, R168HNoonan syndrome 8Uncertain significance
(Jun 28, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr1:155870339
GRCh38:
Chr1:155900548
RIT1Y167C, Y131C, Y184CNoonan syndrome 8Uncertain significance
(Jun 20, 2022)		criteria provided, single submitter
55.
GRCh37:
Chr1:155870341
GRCh38:
Chr1:155900550
RIT1Cardiovascular phenotype, not provided, Noonan syndrome 8
Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:155870347
GRCh38:
Chr1:155900556
RIT1Noonan syndrome 8Likely benign
(Aug 14, 2021)		criteria provided, single submitter
57.
GRCh37:
Chr1:155870348
GRCh38:
Chr1:155900557
RIT1S128C, S164C, S181CNoonan syndrome 8Uncertain significance
(Jul 8, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr1:155870350
GRCh38:
Chr1:155900559
RIT1Noonan syndrome 8Likely benign
(Sep 1, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr1:155870351
GRCh38:
Chr1:155900560
RIT1T127I, T163I, T180INoonan syndrome and Noonan-related syndromeUncertain significance
(Jun 21, 2021)		criteria provided, single submitter
60.
GRCh37:
Chr1:155870378
GRCh38:
Chr1:155900587
RIT1R154Q, R118Q, R171Qnot provided, Cardiovascular phenotype, Noonan syndrome 8
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr1:155870398
GRCh38:
Chr1:155900607
RIT1Cardiovascular phenotype, Noonan syndrome 8Likely benign
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:155870414
GRCh38:
Chr1:155900623
RIT1Noonan syndrome 8Likely benign
(Oct 14, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr1:155870416
GRCh38:
Chr1:155900625
RIT1not specified, Noonan syndrome 8, not provided
Benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:155870425
GRCh38:
Chr1:155900634
RIT1Noonan syndrome 8Likely benign
(Aug 22, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr1:155870427
GRCh38:
Chr1:155900636
RIT1Noonan syndrome 8Likely benign
(Jul 29, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr1:155870427
GRCh38:
Chr1:155900636
RIT1Noonan syndrome 8Likely benign
(Oct 20, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr1:155873924
GRCh38:
Chr1:155904133
RIT1not providedLikely benign
(Jul 7, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr1:155873952
GRCh38:
Chr1:155904161
RIT1not providedLikely benign
(Jul 7, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr1:155873960
GRCh38:
Chr1:155904169
RIT1not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr1:155874082
GRCh38:
Chr1:155904291
RIT1Noonan syndrome 8Likely benign
(Jan 6, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr1:155874087
GRCh38:
Chr1:155904296
RIT1Noonan syndrome 8Likely benign
(Jul 14, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr1:155874093
GRCh38:
Chr1:155904302
RIT1Noonan syndrome 8Likely benign
(Apr 8, 2022)		criteria provided, single submitter
73.
GRCh37:
Chr1:155874108
GRCh38:
Chr1:155904317
RIT1Cardiovascular phenotype, Noonan syndrome 8Likely benign
(Oct 29, 2021)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:155874118
GRCh38:
Chr1:155904327
RIT1L155R, L102R, L138RNoonan syndrome 8Uncertain significance
(Jul 19, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr1:155874123
GRCh38:
Chr1:155904332
RIT1Cardiovascular phenotypeLikely benign
(Mar 7, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr1:155874130
GRCh38:
Chr1:155904339
RIT1N98S, N151S, N134SNoonan syndrome 8Uncertain significance
(Jul 2, 2022)		criteria provided, single submitter
77.
GRCh37:
Chr1:155874138
GRCh38:
Chr1:155904347
RIT1Cardiovascular phenotype, not specified, Noonan syndrome 8
Likely benign
(Feb 20, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:155874140
GRCh38:
Chr1:155904349
RIT1L95I, L131I, L148IInborn genetic diseasesUncertain significance
(Nov 7, 2022)		criteria provided, single submitter
79.
GRCh37:
Chr1:155874144
GRCh38:
Chr1:155904353
RIT1Noonan syndrome 8Likely benign
(Mar 29, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr1:155874150
GRCh38:
Chr1:155904359
RIT1not specified, Noonan syndrome 8Likely benign
(Nov 21, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr1:155874150
GRCh38:
Chr1:155904359
RIT1Cardiovascular phenotype, Noonan syndrome 8Likely benign
(Jun 14, 2021)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:155874152
GRCh38:
Chr1:155904361
RIT1T91A, T144A, T127ANoonan syndrome 8Uncertain significance
(Apr 20, 2022)		criteria provided, single submitter
83.
GRCh37:
Chr1:155874155
GRCh38:
Chr1:155904364
RIT1D126N, D143N, D90NNoonan syndrome 8Uncertain significance
(Nov 1, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr1:155874156
GRCh38:
Chr1:155904365
RIT1Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, Noonan syndrome 8,
not specified, not provided		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:155874157
GRCh38:
Chr1:155904366
RIT1D125G, D89G, D142GNoonan syndrome 8Uncertain significance
(Jun 15, 2022)		criteria provided, single submitter
86.
GRCh37:
Chr1:155874158
GRCh38:
Chr1:155904367
RIT1D125N, D142N, D89NCardiovascular phenotypeUncertain significance
(Aug 22, 2021)		criteria provided, single submitter
87.
GRCh37:
Chr1:155874163
GRCh38:
Chr1:155904372
RIT1R123H, R140H, R87HNoonan syndrome 8, not providedConflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr1:155874164
GRCh38:
Chr1:155904373
RIT1R87C, R123C, R140CInborn genetic diseases, Cardiovascular phenotype, Noonan syndrome 8
Uncertain significance
(Oct 15, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:155874166
GRCh38:
Chr1:155904375
RIT1R122L, R139L, R86LNoonan syndrome and Noonan-related syndrome, Noonan syndrome 8, Megalencephaly-capillary malformation-polymicrogyria syndrome,
Noonan syndrome 8, not provided		Conflicting interpretations of pathogenicity
(Feb 8, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr1:155874167
GRCh38:
Chr1:155904376
RIT1Cardiovascular phenotypeLikely benign
(Jul 8, 2021)		criteria provided, single submitter
91.
GRCh37:
Chr1:155874172
GRCh38:
Chr1:155904381
RIT1R120L, R137L, R84LCardiovascular phenotypeUncertain significance
(Feb 25, 2019)		criteria provided, single submitter
92.
GRCh37:
Chr1:155874172
GRCh38:
Chr1:155904381
RIT1R120Q, R137Q, R84QCardiovascular phenotype, Noonan syndrome 8Uncertain significance
(Jun 19, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:155874173
GRCh38:
Chr1:155904382
RIT1R120G, R137G, R84Gnot specifiedUncertain significance
(May 19, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr1:155874175
GRCh38:
Chr1:155904384
RIT1Y119C, Y136C, Y83CCardiovascular phenotypeUncertain significance
(Sep 16, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr1:155874180
GRCh38:
Chr1:155904389
RIT1Noonan syndrome 8Likely benign
(May 25, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr1:155874190
GRCh38:
Chr1:155904399
RIT1F114Y, F131Y, F78YNoonan syndrome and Noonan-related syndrome, Noonan syndrome 8, Cardiovascular phenotype
Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:155874191
GRCh38:
Chr1:155904400
RIT1F114L, F131L, F78LNoonan syndrome 8Uncertain significance
(Sep 3, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr1:155874193
GRCh38:
Chr1:155904402
RIT1E77V, E113V, E130VNoonan syndrome 8Uncertain significance
(May 4, 2022)		criteria provided, single submitter
99.
GRCh37:
Chr1:155874196
GRCh38:
Chr1:155904405
RIT1R112H, R76H, R129HNoonan syndrome 8, Inborn genetic diseasesUncertain significance
(Jul 4, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:155874197
GRCh38:
Chr1:155904406
RIT1R112C, R129C, R76CNoonan syndrome 8Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
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