NODAL[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1454811.	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 GRCh37: Chr10:43180754-75475666 GRCh38: Chr10:42685306-73715908	LOC101928994, LOC102724323, LOC102724593, LOC102724719, LOC105378269, LOC105378305, LOC105378311, LOC105378577, LOC106736614, LOC107001062, LOC107832851, LOC107984236, LOC108178982, LOC110121478, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111365158, LOC111365196, LOC111818966, LOC111818967, LOC111946237, LOC111946238, LOC111946239, LOC111946240, LOC111946243, LOC111946244, LOC111946247, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC112268068, LOC113939916, LOC114827857, LOC116216113, LOC116216114, LOC120807611, LOC121366050, LOC121366051, LOC121366052, LOC121366053, LOC121366054, LOC121366055, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121811730, LOC121815939, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC124403944, LOC124403945, LOC124403946, LOC124403948, LOC124403949, LOC124403950, LOC124403951, LOC124403952, LOC124403953, LOC124403954, LOC124403955, LOC124403956, LOC124403957, LOC124403958, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC126860919, LOC126860920, LOC126860921, LOC126860922, LOC126860923, LOC126860924, LOC126860925, LOC126860926, LOC126860927, LOC126860928, LOC126860929, LOC126860930, LOC126860931, LOC126860932, LOC126860933, LOC126860934, LOC126860935, LOC126860936, LOC126860937, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC283028, LOC283045, LRRC18, LRRC20, LRRTM3, MACROH2A2, MAPK8, MARCHF8, MBL2, MCS+9.7, MCU, MICU1, MIR1254-1, MIR1296, MIR3156-1, MIR3924, MIR4294, MIR4676, MIR5100, MIR548F1, MIR605, MIR7151, MIR7152, MRLN, MRPS16, MSMB, MSS51, MTRNR2L5, MYOZ1, MYPN, NCOA4, NEUROG3, NODAL, NPFFR1, NPY4R, NPY4R2, NRBF2, NUDT13, OGDHL, OIT3, OR13A1, P4HA1, PALD1, PARG, PBLD, PCBD1, PCDH15, PGBD3, PHYHIPL, PLA2G12B, PPA1, PPP3CB, PPP3CB-AS1, PRF1, PRKG1, PRKG1-AS1, PSAP, PTPN20, RASGEF1A, RASSF4, RBP3, REEP3, RET, RHOBTB1, RTKN2, RUFY2, SAR1A, SGMS1, SGMS1-AS1, SGPL1, SIRT1, SLC16A9, SLC18A3, SLC25A16, SLC29A3, SNORA11F, SNORA74C-1, SNORA74C-2, SNORD3J, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, SYT15, SYT15-AS1, SYT15B, TACR2, TBATA, TET1, TFAM, TIMM23, TIMM23B, TIMM23B-AGAP6, TMEM26, TMEM26-AS1, TMEM273, TMEM72, TMEM72-AS1, TRS-TGA1-1, TSPAN15, TYSND1, UBE2D1, UNC5B, UNC5B-AS1, USP54, VPS26A, VSIR, VSTM4, WASHC2A, WASHC2C, WDFY4, ZFAND4, ZNF22, ZNF22-AS1, ZNF239, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF365, ZNF485, ZNF487, ZNF488, ZWINT, A1CF, ADAMTS14, ADO, AGAP10, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALOX5, ANAPC16, ANK3, ANK3-DT, ANTXRL, ANXA7, ANXA8, ANXA8L1, ARHGAP22, ARHGAP22-IT1, ARID5B, ASAH2, ASAH2B, ASCC1, ATOH7, BICC1, BMS1, C10orf105, C10orf53, C10orf71, C10orf71-AS1, CABCOCO1, CCAR1, CCDC6, CCEPR, CDH23, CDH23-AS1, CDK1, CFAP70, CHAT, CHST3, CISD1, COL13A1, CSGALNACT2, CSGALNACT2-DT, CSTF2T, CTNNA3, CXCL12, DDIT4, DDX21, DDX50, DEPP1, DKK1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DRGX, ECD, EGR2, EIF4EBP2, ERCC6, ERCC6-PGBD3, FAM13C, FAM149B1, FAM170B, FAM170B-AS1, FAM241B, FAM245B, FAM25C, FAM25E, FAM25G, FRMPD2, FXYD4, GDF10, GDF2, GPRIN2, HERC4, HK1, HKDC1, HNRNPF, HNRNPH3, IPMK, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KIFBP, LINC00619, LINC00840, LINC00841, LINC00842, LINC00844, LINC00845, LINC01264, LINC01515, LINC01518, LINC01553, LINC02621, LINC02622, LINC02623, LINC02632, LINC02636, LINC02637, LINC02651, LINC02658, LINC02659, LINC02671, LINC02672, LINC02881, LINC03029, LNCAROD, LOC101928961		See cases	Pathogenic (Sep 30, 2010)	no assertion criteria provided
Select item 1489452.	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 GRCh37: Chr10:52489127-88906961 GRCh38: Chr10:50729367-87147204	LOC126860964, LOC126860965, LOC126860966, LOC126860967, LOC126860968, LOC126860969, LOC126860970, LOC126860971, LOC126860972, LOC126860973, LOC126860974, LOC126860975, LOC126860976, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC128462378, LOC128462379, LOC128462381, LOC128462387, LOC128462388, LOC128462389, LOC128462390, LOC128462391, LOC128462398, LOC128462399, LOC128462400, LOC128462401, LOC128462402, LOC128462403, LOC128462404, LOC128462405, LOC128462406, LOC128462407, LOC283045, LOC642361, LOC729815, LRIT1, LRIT2, LRMDA, LRRC20, LRRTM3, MACROH2A2, MAT1A, MBL2, MCU, MICU1, MIR1254-1, MIR1296, MIR346, MIR3924, MIR4676, MIR548F1, MIR605, MIR606, MIR7151, MIR7152, MMRN2, MRLN, MRPS16, MSS51, MTRNR2L5, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NRBF2, NRG3, NRG3-AS1, NUDT13, NUTM2B, NUTM2B-AS1, NUTM2E, OIT3, OPN4, P4HA1, PALD1, PBLD, PCBD1, PCDH15, PHYHIPL, PLA2G12B, PLAC9, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PPP3CB-AS1, PRF1, PRKG1, PRKG1-AS1, PRXL2A, PSAP, REEP3, RGR, RHOBTB1, RPS24, RTKN2, RUFY2, SAMD8, SAR1A, SEC24C, SFTPA1, SFTPA2, SFTPD, SGPL1, SH2D4B, SHLD2, SIRT1, SLC16A9, SLC25A16, SLC29A3, SNCG, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TFAM, TMEM254, TMEM254-AS1, TMEM26, TMEM26-AS1, TRS-TGA1-1, TSPAN14, TSPAN14-AS1, TSPAN15, TYSND1, UBE2D1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, WAPL, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF365, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1, ZWINT, A1CF, ADAMTS14, ADIRF, ADIRF-AS1, ADK, ADO, AGAP11, AGAP5, AIFM2, ANAPC16, ANK3, ANK3-DT, ANXA11, ANXA7, AP3M1, ARID5B, ASAH2B, ASCC1, ATOH7, BICC1, BMPR1A, C10orf105, C10orf55, CABCOCO1, CAMK2G, CCAR1, CCDC6, CCEPR, CCSER2, CDH23, CDH23-AS1, CDHR1, CDK1, CERNA2, CFAP70, CHCHD1, CHST3, CISD1, COL13A1, COMTD1, CSTF2T, CTNNA3, DDIT4, DDX21, DDX50, DKK1, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, DYDC1, DYDC2, ECD, EGR2, EIF4EBP2, EIF5AL1, FAM13C, FAM149B1, FAM241B, FAM25A, FUT11, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, HERC4, HK1, HKDC1, HNRNPH3, IPMK, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KAT6B, KCNMA1, KCNMA1-AS1, KCNMA1-AS2, KCNMA1-AS3, KIFBP, LDB3, LINC00595, LINC00844, LINC00845, LINC00856, LINC00857, LINC00858, LINC01515, LINC01519, LINC01520, LINC01553, LINC02621, LINC02622, LINC02636, LINC02647, LINC02650, LINC02651, LINC02655, LINC02671, LINC02672, LINC02679, LNCAROD, LOC100130698, LOC100131132, LOC101928961, LOC101928994, LOC101929165, LOC101929234, LOC101929662, LOC102723439, LOC102723703, LOC102724719, LOC105378305, LOC105378311, LOC105378367, LOC105378396, LOC107832851, LOC107984236, LOC108178982, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121486, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946247, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC111982876, LOC111982877, LOC111982878, LOC112268068, LOC113939917, LOC116216113, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121366063, LOC121366064, LOC121366065, LOC121366066, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815939, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC121815950, LOC121815951, LOC121815952, LOC121815953, LOC124403956, LOC124403957, LOC124403958, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC124416845, LOC124416846, LOC124416847, LOC124416848, LOC124416849, LOC124416850, LOC124416851, LOC124416852, LOC124416853, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860934, LOC126860935, LOC126860936, LOC126860937, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LOC126860963		See cases	Pathogenic (Dec 16, 2011)	no assertion criteria provided
Select item 587263.	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 GRCh37: Chr10:60196226-76174974 GRCh38: Chr10:58436466-74415216	ADAMTS14, ADK, ADO, AGAP5, AIFM2, ANAPC16, ANK3, ANK3-DT, ANXA7, AP3M1, ARID5B, ASCC1, ATOH7, BICC1, C10orf105, C10orf55, CABCOCO1, CAMK2G, CCAR1, CCDC6, CCEPR, CDH23, CDH23-AS1, CDK1, CFAP70, CHCHD1, CHST3, COL13A1, CTNNA3, DDIT4, DDX21, DDX50, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, ECD, EGR2, EIF4EBP2, FAM13C, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KIFBP, LINC00844, LINC00845, LINC01515, LINC01553, LINC02621, LINC02622, LINC02636, LINC02651, LINC02671, LOC101928961, LOC101928994, LOC107832851, LOC107984236, LOC108178982, LOC110121485, LOC111365158, LOC111365196, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC116216113, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC283045, LRRC20, LRRTM3, MACROH2A2, MCU, MICU1, MIR1254-1, MIR1296, MIR4676, MIR7151, MIR7152, MRLN, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NRBF2, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PHYHIPL, PLA2G12B, PLAU, PPA1, PPP3CB, PPP3CB-AS1, PRF1, PSAP, REEP3, RHOBTB1, RTKN2, RUFY2, SAR1A, SEC24C, SGPL1, SIRT1, SLC16A9, SLC25A16, SLC29A3, SNORA11F, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TMEM26, TMEM26-AS1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VPS26A, VSIR, ZNF365, ZSWIM8, ZSWIM8-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1474774.	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 GRCh37: Chr10:65162339-77055857 GRCh38: Chr10:63402579-75296099	ADAMTS14, ADK, AGAP5, AIFM2, ANAPC16, ANXA7, AP3M1, ASCC1, ATOH7, C10orf105, C10orf55, CAMK2G, CCAR1, CDH23, CDH23-AS1, CFAP70, CHCHD1, CHST3, COL13A1, COMTD1, CTNNA3, DDIT4, DDX21, DDX50, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, ECD, EIF4EBP2, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KAT6B, KIFBP, LINC01515, LINC02622, LINC02636, LINC02651, LINC02671, LOC101928961, LOC101928994, LOC101929165, LOC102723439, LOC107832851, LOC108178982, LOC110120903, LOC110121366, LOC110121382, LOC110121485, LOC111365158, LOC111365196, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LRRC20, LRRTM3, MACROH2A2, MCU, MICU1, MIR1254-1, MIR4676, MIR7151, MIR7152, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PLA2G12B, PLAU, PPA1, PPP3CB, PPP3CB-AS1, PRF1, PSAP, REEP3, RUFY2, SAMD8, SAR1A, SEC24C, SGPL1, SIRT1, SLC25A16, SLC29A3, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, ZNF503, ZSWIM8, ZSWIM8-AS1		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 1461155.	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 GRCh37: Chr10:68956325-81181813 GRCh38: Chr10:67196567-79422057	ADAMTS14, ADK, AGAP5, AIFM2, ANAPC16, ANXA7, AP3M1, ASCC1, ATOH7, C10orf105, C10orf55, CAMK2G, CCAR1, CDH23, CDH23-AS1, CFAP70, CHCHD1, CHST3, COL13A1, COMTD1, CTNNA3, DDIT4, DDX21, DDX50, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, ECD, EIF4EBP2, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, KAT6B, KCNMA1, KCNMA1-AS1, KCNMA1-AS2, KCNMA1-AS3, KIFBP, LINC00595, LINC00856, LINC02622, LINC02636, LINC02651, LOC100131132, LOC101928994, LOC101929165, LOC101929234, LOC102723439, LOC105378367, LOC107832851, LOC108178982, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC113939917, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121366063, LOC121366064, LOC121366065, LOC121366066, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC121815950, LOC121815951, LOC121815952, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC124416845, LOC124416846, LOC124416847, LOC124416848, LOC124416849, LOC124416850, LOC124416851, LOC124416852, LOC124416853, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LOC126860963, LOC126860964, LOC126860965, LOC126860966, LOC126860967, LOC126860968, LOC126860969, LOC126860970, LOC126860971, LOC126860972, LOC126860973, LOC126860974, LOC126860975, LOC126860976, LOC128462378, LOC128462379, LOC128462381, LOC128462387, LOC128462388, LOC128462389, LOC128462390, LOC128462398, LOC128462399, LOC128462400, LOC128462401, LOC128462402, LOC128462403, LOC128462404, LOC128462405, LOC128462406, LOC128462407, LRMDA, LRRC20, MACROH2A2, MCU, MICU1, MIR1254-1, MIR4676, MIR606, MIR7151, MIR7152, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PLA2G12B, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PPP3CB-AS1, PRF1, PSAP, RPS24, RUFY2, SAMD8, SAR1A, SEC24C, SGPL1, SIRT1, SLC25A16, SLC29A3, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 574366.	GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3 GRCh37: Chr10:71795924-72282420 GRCh38: Chr10:70036168-70522664	AIFM2, EIF4EBP2, LOC111365196, LOC111982866, LOC120807611, LOC121366058, LOC121366059, LOC121815944, LOC124403975, LOC124403976, LRRC20, MACROH2A2, NODAL, NPFFR1, PALD1, PPA1, SAR1A, TYSND1		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 3002847.	NM_018055.5(NODAL):c.*887C>T GRCh37: Chr10:72191805 GRCh38: Chr10:70432049	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3002858.	NM_018055.5(NODAL):c.*886G>A GRCh37: Chr10:72191806 GRCh38: Chr10:70432050	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 3002869.	NM_018055.5(NODAL):c.*836G>C GRCh37: Chr10:72191856 GRCh38: Chr10:70432100	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87935010.	NM_018055.5(NODAL):c.*829T>G GRCh37: Chr10:72191863 GRCh38: Chr10:70432107	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87935111.	NM_018055.5(NODAL):c.*820G>C GRCh37: Chr10:72191872 GRCh38: Chr10:70432116	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30028712.	NM_018055.5(NODAL):c.*747dup GRCh37: Chr10:72191944-72191945 GRCh38: Chr10:70432188-70432189	NODAL		Visceral heterotaxy, Holoprosencephaly sequence	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30028813.	NM_018055.5(NODAL):c.*740T>C GRCh37: Chr10:72191952 GRCh38: Chr10:70432196	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87971314.	NM_018055.5(NODAL):c.*729A>G GRCh37: Chr10:72191963 GRCh38: Chr10:70432207	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30028915.	NM_018055.5(NODAL):c.*722G>C GRCh37: Chr10:72191970 GRCh38: Chr10:70432214	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30029016.	NM_018055.5(NODAL):c.*678G>A GRCh37: Chr10:72192014 GRCh38: Chr10:70432258	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30029117.	NM_018055.5(NODAL):c.*677C>T GRCh37: Chr10:72192015 GRCh38: Chr10:70432259	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30029218.	NM_018055.5(NODAL):c.*676C>T GRCh37: Chr10:72192016 GRCh38: Chr10:70432260	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30029319.	NM_018055.5(NODAL):c.*480G>A GRCh37: Chr10:72192212 GRCh38: Chr10:70432456	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30029420.	NM_018055.5(NODAL):c.*479C>T GRCh37: Chr10:72192213 GRCh38: Chr10:70432457	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30029521.	NM_018055.5(NODAL):c.*404T>C GRCh37: Chr10:72192288 GRCh38: Chr10:70432532	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87880122.	NM_018055.5(NODAL):c.*360A>G GRCh37: Chr10:72192332 GRCh38: Chr10:70432576	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30029623.	NM_018055.5(NODAL):c.*356G>A GRCh37: Chr10:72192336 GRCh38: Chr10:70432580	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87880224.	NM_018055.5(NODAL):c.*329A>C GRCh37: Chr10:72192363 GRCh38: Chr10:70432607	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87938625.	NM_018055.5(NODAL):c.*328G>A GRCh37: Chr10:72192364 GRCh38: Chr10:70432608	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87938726.	NM_018055.5(NODAL):c.*125A>C GRCh37: Chr10:72192567 GRCh38: Chr10:70432811	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30029727.	NM_018055.5(NODAL):c.*121C>A GRCh37: Chr10:72192571 GRCh38: Chr10:70432815	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30029828.	NM_018055.5(NODAL):c.*62A>T GRCh37: Chr10:72192630 GRCh38: Chr10:70432874	NODAL		Holoprosencephaly sequence, not provided, Heterotaxy, visceral, 5, autosomal	Benign/Likely benign (Nov 9, 2019)	criteria provided, multiple submitters, no conflicts
Select item 180356129.	NM_018055.5(NODAL):c.1033G>A (p.Gly345Arg) GRCh37: Chr10:72192703 GRCh38: Chr10:70432947	NODAL	G212R, G345R	not provided	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 128510730.	NM_018055.5(NODAL):c.1021G>A (p.Val341Met) GRCh37: Chr10:72192715 GRCh38: Chr10:70432959	NODAL	V208M, V341M	not provided	Uncertain significance	no assertion criteria provided
Select item 69871031.	NM_018055.5(NODAL):c.1020C>T (p.Ile340=) GRCh37: Chr10:72192716 GRCh38: Chr10:70432960	NODAL		not provided	Likely benign (Dec 26, 2018)	criteria provided, single submitter
Select item 205779732.	NM_018055.5(NODAL):c.1012G>C (p.Asp338His) GRCh37: Chr10:72192724 GRCh38: Chr10:70432968	NODAL	D205H, D338H	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 129764533.	NM_018055.5(NODAL):c.986G>A (p.Gly329Asp) GRCh37: Chr10:72192750 GRCh38: Chr10:70432994	NODAL	G196D, G329D	not provided	Uncertain significance	no assertion criteria provided
Select item 69748134.	NM_018055.5(NODAL):c.972G>A (p.Leu324=) GRCh37: Chr10:72192764 GRCh38: Chr10:70433008	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 30029935.	NM_018055.5(NODAL):c.963G>A (p.Leu321=) GRCh37: Chr10:72192773 GRCh38: Chr10:70433017	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 146847136.	NM_018055.5(NODAL):c.959C>T (p.Pro320Leu) GRCh37: Chr10:72192777 GRCh38: Chr10:70433021	NODAL	P320L, P187L	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 69934337.	NM_018055.5(NODAL):c.945A>G (p.Pro315=) GRCh37: Chr10:72192791 GRCh38: Chr10:70433035	NODAL		not provided	Likely benign (Jul 16, 2018)	criteria provided, single submitter
Select item 102808138.	NM_018055.5(NODAL):c.926C>T (p.Pro309Leu) GRCh37: Chr10:72192810 GRCh38: Chr10:70433054	NODAL	P176L, P309L	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jul 31, 2019)	criteria provided, single submitter
Select item 69719739.	NM_018055.5(NODAL):c.924C>T (p.Val308=) GRCh37: Chr10:72192812 GRCh38: Chr10:70433056	NODAL		Heterotaxy, visceral, 5, autosomal	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 69700140.	NM_018055.5(NODAL):c.916C>T (p.His306Tyr) GRCh37: Chr10:72192820 GRCh38: Chr10:70433064	NODAL	H306Y, H173Y	Heterotaxy, visceral, 5, autosomal	Likely benign (Aug 18, 2020)	criteria provided, single submitter
Select item 171447841.	NM_018055.5(NODAL):c.914C>T (p.Pro305Leu) GRCh37: Chr10:72192822 GRCh38: Chr10:70433066	NODAL	P172L, P305L	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 9588342.	NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) GRCh37: Chr10:72192832 GRCh38: Chr10:70433076	NODAL	R302C, R169C	not provided, not specified, Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 130306243.	NM_018055.5(NODAL):c.892-1G>C GRCh37: Chr10:72192845 GRCh38: Chr10:70433089	NODAL		not provided	Uncertain significance (Oct 27, 2020)	criteria provided, single submitter
Select item 122916644.	NM_018055.5(NODAL):c.892-265A>T GRCh37: Chr10:72193109 GRCh38: Chr10:70433353	NODAL		not provided	Benign (Aug 6, 2019)	criteria provided, single submitter
Select item 120123845.	NM_018055.5(NODAL):c.892-265del GRCh37: Chr10:72193109 GRCh38: Chr10:70433353	NODAL		not provided	Likely benign (Nov 9, 2019)	criteria provided, single submitter
Select item 205857946.	NM_018055.5(NODAL):c.891+19G>C GRCh37: Chr10:72195023 GRCh38: Chr10:70435267	NODAL		Heterotaxy, visceral, 5, autosomal	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 57125447.	NM_018055.5(NODAL):c.891+2T>A GRCh37: Chr10:72195040 GRCh38: Chr10:70435284	NODAL		Heterotaxy, visceral, 5, autosomal	Likely pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 24124548.	NM_018055.5(NODAL):c.891+1G>A GRCh37: Chr10:72195041 GRCh38: Chr10:70435285	NODAL		Heterotaxy, visceral, 5, autosomal	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 194234249.	NM_018055.5(NODAL):c.870G>A (p.Pro290_Thr291=) GRCh37: Chr10:72195063 GRCh38: Chr10:70435307	NODAL		Heterotaxy, visceral, 5, autosomal	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 47304850.	NM_018055.5(NODAL):c.870G>T (p.Pro290=) GRCh37: Chr10:72195063 GRCh38: Chr10:70435307	NODAL		Heterotaxy, visceral, 5, autosomal	Likely benign (Aug 7, 2017)	criteria provided, single submitter
Select item 142339051.	NM_018055.5(NODAL):c.869C>T (p.Pro290Leu) GRCh37: Chr10:72195064 GRCh38: Chr10:70435308	NODAL	P157L, P290L	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Nov 28, 2021)	criteria provided, single submitter
Select item 217330652.	NM_018055.5(NODAL):c.835G>A (p.Glu279Lys) GRCh37: Chr10:72195098 GRCh38: Chr10:70435342	NODAL	E279K, E146K	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 42310353.	NM_018055.5(NODAL):c.824G>A (p.Arg275His) GRCh37: Chr10:72195109 GRCh38: Chr10:70435353	NODAL	R275H, R142H	not provided, Visceral heterotaxy	Likely pathogenic (Oct 9, 2017)	criteria provided, multiple submitters, no conflicts
Select item 97864654.	NM_018055.5(NODAL):c.823C>T (p.Arg275Cys) GRCh37: Chr10:72195110 GRCh38: Chr10:70435354	NODAL	R142C, R275C	Heart, malformation of	Pathogenic (Oct 16, 2019)	criteria provided, single submitter
Select item 87782155.	NM_018055.5(NODAL):c.819C>G (p.Ala273=) GRCh37: Chr10:72195114 GRCh38: Chr10:70435358	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 101395356.	NM_018055.5(NODAL):c.817G>A (p.Ala273Thr) GRCh37: Chr10:72195116 GRCh38: Chr10:70435360	NODAL	A140T, A273T	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 116543957.	NM_018055.5(NODAL):c.816C>T (p.Asn272=) GRCh37: Chr10:72195117 GRCh38: Chr10:70435361	NODAL		Heterotaxy, visceral, 5, autosomal	Benign (Jun 13, 2022)	criteria provided, single submitter
Select item 131531658.	NM_018055.5(NODAL):c.778G>C (p.Gly260Arg) GRCh37: Chr10:72195155 GRCh38: Chr10:70435399	NODAL	G127R, G260R	not provided	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 826959.	NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) GRCh37: Chr10:72195155 GRCh38: Chr10:70435399	NODAL	G260R, G127R	Inborn genetic diseases, not provided, Visceral heterotaxy, Heterotaxy, visceral, 5, autosomal	Conflicting interpretations of pathogenicity (Mar 16, 2023)	criteria provided, conflicting interpretations
Select item 47304760.	NM_018055.5(NODAL):c.759G>A (p.Gln253=) GRCh37: Chr10:72195174 GRCh38: Chr10:70435418	NODAL		Heterotaxy, visceral, 5, autosomal	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 41838861.	NM_018055.5(NODAL):c.742C>T (p.Arg248Trp) GRCh37: Chr10:72195191 GRCh38: Chr10:70435435	NODAL	R248W, R115W	not provided	Uncertain significance (Feb 17, 2017)	criteria provided, single submitter
Select item 167800162.	NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer) GRCh37: Chr10:72195210-72195233 GRCh38: Chr10:70435454-70435477	NODAL		not provided	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 54554363.	NM_018055.5(NODAL):c.700_707del (p.Arg234fs) GRCh37: Chr10:72195226-72195233 GRCh38: Chr10:70435470-70435477	NODAL	R101fs, R234fs	Heterotaxy, visceral, 5, autosomal	Likely pathogenic (May 28, 2018)	no assertion criteria provided
Select item 87782264.	NM_018055.5(NODAL):c.702G>A (p.Arg234=) GRCh37: Chr10:72195231 GRCh38: Chr10:70435475	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 66058365.	NM_018055.5(NODAL):c.679C>G (p.Leu227Val) GRCh37: Chr10:72195254 GRCh38: Chr10:70435498	NODAL	L94V, L227V	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 56729266.	NM_018055.5(NODAL):c.673G>A (p.Gly225Arg) GRCh37: Chr10:72195260 GRCh38: Chr10:70435504	NODAL	G225R, G92R	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 69917167.	NM_018055.5(NODAL):c.672G>A (p.Glu224=) GRCh37: Chr10:72195261 GRCh38: Chr10:70435505	NODAL		Heterotaxy, visceral, 5, autosomal	Likely benign (Jul 29, 2020)	criteria provided, single submitter
Select item 87782368.	NM_018055.5(NODAL):c.670G>A (p.Glu224Lys) GRCh37: Chr10:72195263 GRCh38: Chr10:70435507	NODAL	E224K, E91K	Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 21589969.	NM_018055.5(NODAL):c.662G>A (p.Arg221Gln) GRCh37: Chr10:72195271 GRCh38: Chr10:70435515	NODAL	R221Q, R88Q	Heterotaxy, visceral, 5, autosomal, not provided	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 84131870.	NM_018055.5(NODAL):c.661C>T (p.Arg221Trp) GRCh37: Chr10:72195272 GRCh38: Chr10:70435516	NODAL	R88W, R221W	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 70327271.	NM_018055.5(NODAL):c.661C>A (p.Arg221=) GRCh37: Chr10:72195272 GRCh38: Chr10:70435516	NODAL		Heterotaxy, visceral, 5, autosomal	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 40744672.	NM_018055.5(NODAL):c.658T>C (p.Trp220Arg) GRCh37: Chr10:72195275 GRCh38: Chr10:70435519	NODAL	W220R, W87R	Heterotaxy, visceral, 5, autosomal, Inborn genetic diseases	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26099273.	NM_018055.5(NODAL):c.607G>A (p.Glu203Lys) GRCh37: Chr10:72195326 GRCh38: Chr10:70435570	NODAL	E203K, E70K	Holoprosencephaly sequence, not specified, Heterotaxy, visceral, 5, autosomal	Benign/Likely benign (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 226263574.	NM_018055.5(NODAL):c.602C>T (p.Ser201Leu) GRCh37: Chr10:72195331 GRCh38: Chr10:70435575	NODAL	S201L, S68L	Inborn genetic diseases	Uncertain significance (Nov 30, 2021)	criteria provided, single submitter
Select item 30030075.	NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr) GRCh37: Chr10:72195340 GRCh38: Chr10:70435584	NODAL	S198Y, S65Y	Inborn genetic diseases, Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98636076.	NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter) GRCh37: Chr10:72195342 GRCh38: Chr10:70435586	NODAL	Y197, Y64	Heterotaxy, visceral, 5, autosomal	Pathogenic (Aug 21, 2019)	criteria provided, single submitter
Select item 26099177.	NM_018055.5(NODAL):c.588C>G (p.Leu196=) GRCh37: Chr10:72195345 GRCh38: Chr10:70435589	NODAL		not specified, Heterotaxy, visceral, 5, autosomal, not provided, Holoprosencephaly sequence	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128518278.	NM_018055.5(NODAL):c.586C>T (p.Leu196Phe) GRCh37: Chr10:72195347 GRCh38: Chr10:70435591	NODAL	L196F, L63F	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 79099179.	NM_018055.5(NODAL):c.561G>A (p.Pro187=) GRCh37: Chr10:72195372 GRCh38: Chr10:70435616	NODAL		not provided	Likely benign (Jul 7, 2018)	criteria provided, single submitter
Select item 69039980.	NM_018055.5(NODAL):c.555dup (p.Thr186fs) GRCh37: Chr10:72195377-72195378 GRCh38: Chr10:70435621-70435622	NODAL	T186fs, T53fs	Congenitally corrected transposition of the great arteries	Uncertain significance	criteria provided, single submitter
Select item 106999281.	NM_018055.5(NODAL):c.555del (p.Thr186fs) GRCh37: Chr10:72195378 GRCh38: Chr10:70435622	NODAL	T186fs, T53fs	Heterotaxy, visceral, 5, autosomal	Pathogenic (Sep 21, 2020)	criteria provided, single submitter
Select item 87798582.	NM_018055.5(NODAL):c.555C>A (p.Pro185=) GRCh37: Chr10:72195378 GRCh38: Chr10:70435622	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30030183.	NM_018055.5(NODAL):c.550C>T (p.Pro184Ser) GRCh37: Chr10:72195383 GRCh38: Chr10:70435627	NODAL	P184S, P51S	Inborn genetic diseases, Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 826884.	NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) GRCh37: Chr10:72195385 GRCh38: Chr10:70435629	NODAL	R183Q, R50Q	not provided, Heterotaxy, visceral, 5, autosomal	Conflicting interpretations of pathogenicity (Nov 16, 2021)	criteria provided, conflicting interpretations
Select item 229003385.	NM_018055.5(NODAL):c.547C>T (p.Arg183Trp) GRCh37: Chr10:72195386 GRCh38: Chr10:70435630	NODAL	R183W, R50W	Inborn genetic diseases	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 113530286.	NM_018055.5(NODAL):c.545C>T (p.Pro182Leu) GRCh37: Chr10:72195388 GRCh38: Chr10:70435632	NODAL	P182L, P49L	Heterotaxy, visceral, 5, autosomal	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 26099087.	NM_018055.5(NODAL):c.531T>C (p.Ala177=) GRCh37: Chr10:72195402 GRCh38: Chr10:70435646	NODAL		not specified, Heterotaxy, visceral, 5, autosomal	Likely benign (Dec 26, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69764688.	NM_018055.5(NODAL):c.518T>C (p.Met173Thr) GRCh37: Chr10:72195415 GRCh38: Chr10:70435659	NODAL	M173T, M40T	not provided	Benign (Jun 21, 2018)	criteria provided, single submitter
Select item 30030289.	NM_018055.5(NODAL):c.514C>G (p.Gln172Glu) GRCh37: Chr10:72195419 GRCh38: Chr10:70435663	NODAL	Q172E, Q39E	Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87945090.	NM_018055.5(NODAL):c.512A>T (p.Lys171Met) GRCh37: Chr10:72195421 GRCh38: Chr10:70435665	NODAL	K171M, K38M	Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9588291.	NM_018055.5(NODAL):c.494A>G (p.His165Arg) GRCh37: Chr10:72195439 GRCh38: Chr10:70435683	NODAL	H165R, H32R	not specified, not provided, Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70450792.	NM_018055.5(NODAL):c.473C>T (p.Pro158Leu) GRCh37: Chr10:72195460 GRCh38: Chr10:70435704	NODAL	P25L, P158L	not provided, Heterotaxy, visceral, 5, autosomal	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 87945193.	NM_018055.5(NODAL):c.467C>T (p.Thr156Ile) GRCh37: Chr10:72195466 GRCh38: Chr10:70435710	NODAL	T23I, T156I	Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 66361994.	NM_018055.5(NODAL):c.446del (p.Gly149fs) GRCh37: Chr10:72195487 GRCh38: Chr10:70435731	NODAL	G149fs, G16fs	Heterotaxy, visceral, 5, autosomal	Pathogenic (Aug 3, 2018)	criteria provided, single submitter
Select item 148060695.	NM_018055.5(NODAL):c.419C>T (p.Thr140Ile) GRCh37: Chr10:72195514 GRCh38: Chr10:70435758	NODAL	T140I, T7I	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 30030396.	NM_018055.5(NODAL):c.417C>T (p.Val139=) GRCh37: Chr10:72195516 GRCh38: Chr10:70435760	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 243438597.	NM_018055.5(NODAL):c.404A>G (p.Asp135Gly) GRCh37: Chr10:72195529 GRCh38: Chr10:70435773	NODAL	D135G, D2G	Heterotaxy, visceral, 5, autosomal	Uncertain significance (Sep 4, 2020)	criteria provided, single submitter
Select item 224379898.	NM_018055.5(NODAL):c.401T>A (p.Met134Lys) GRCh37: Chr10:72195532 GRCh38: Chr10:70435776	NODAL	M1K, M134K	Inborn genetic diseases	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 54554599.	NM_018055.5(NODAL):c.397C>T (p.Gln133Ter) GRCh37: Chr10:72195536 GRCh38: Chr10:70435780	NODAL	Q133*	Heterotaxy, visceral, 5, autosomal	Pathogenic (Nov 20, 2021)	criteria provided, single submitter
Select item 300304100.	NM_018055.5(NODAL):c.393G>C (p.Arg131=) GRCh37: Chr10:72195540 GRCh38: Chr10:70435784	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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