4838[geneid] - 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	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, 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, LINC02916, LINC03029, LNCAROD, LOC101928961, LOC101928994, LOC102724323, LOC102724593, LOC102724719, LOC105378269, LOC105378289, LOC105378305, LOC105378311, LOC105378328, 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, 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		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	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, LOC101928961, LOC101928994, LOC101929165, LOC101929234, LOC101929662, LOC102723439, LOC102724719, LOC105378305, LOC105378311, LOC105378328, 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, 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, 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		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, LOC105378328, 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, 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		Holoprosencephaly sequence, Visceral heterotaxy	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		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	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		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	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 244400430.	NM_018055.5(NODAL):c.1021G>T (p.Val341Leu) GRCh37: Chr10:72192715 GRCh38: Chr10:70432959	NODAL	V208L, V341L	congenital heart defects	Uncertain significance (Mar 8, 2023)	no assertion criteria provided
Select item 128510731.	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 69871032.	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 205779733.	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 129764534.	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 69748135.	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 30029936.	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 146847137.	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 69934338.	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 102808139.	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 69719740.	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 69700141.	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 171447842.	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 9588343.	NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) GRCh37: Chr10:72192832 GRCh38: Chr10:70433076	NODAL	R302C, R169C	not specified, not provided, Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 244668344.	NM_018055.5(NODAL):c.895C>A (p.Leu299Met) GRCh37: Chr10:72192841 GRCh38: Chr10:70433085	NODAL	L166M, L299M	not provided	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 130306245.	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 122916646.	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 120123847.	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 205857948.	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 57125449.	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 24124550.	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 194234251.	NM_018055.5(NODAL):c.870G>A (p.Pro290=) GRCh37: Chr10:72195063 GRCh38: Chr10:70435307	NODAL		Heterotaxy, visceral, 5, autosomal	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 47304852.	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 142339053.	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 217330654.	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 42310355.	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 97864656.	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 87782157.	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 101395358.	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 116543959.	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 131531660.	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 826961.	NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) GRCh37: Chr10:72195155 GRCh38: Chr10:70435399	NODAL	G260R, G127R	not provided, Inborn genetic diseases, Visceral heterotaxy, Heterotaxy, visceral, 5, autosomal	Conflicting interpretations of pathogenicity (Mar 16, 2023)	criteria provided, conflicting interpretations
Select item 47304762.	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 41838863.	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 167800164.	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 54554365.	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 87782266.	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 66058367.	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 56729268.	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 69917169.	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 87782370.	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 21589971.	NM_018055.5(NODAL):c.662G>A (p.Arg221Gln) GRCh37: Chr10:72195271 GRCh38: Chr10:70435515	NODAL	R221Q, R88Q	Heterotaxy, visceral, 5, autosomal	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 84131872.	NM_018055.5(NODAL):c.661C>T (p.Arg221Trp) GRCh37: Chr10:72195272 GRCh38: Chr10:70435516	NODAL	R88W, R221W	Inborn genetic diseases, Heterotaxy, visceral, 5, autosomal	Uncertain significance (May 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 70327273.	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 40744674.	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 26099275.	NM_018055.5(NODAL):c.607G>A (p.Glu203Lys) GRCh37: Chr10:72195326 GRCh38: Chr10:70435570	NODAL	E203K, E70K	Heterotaxy, visceral, 5, autosomal, not specified, Holoprosencephaly sequence	Benign/Likely benign (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 226263576.	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 30030077.	NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr) GRCh37: Chr10:72195340 GRCh38: Chr10:70435584	NODAL	S198Y, S65Y	Heterotaxy, visceral, 5, autosomal, Inborn genetic diseases, Holoprosencephaly sequence	Uncertain significance (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98636078.	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 26099179.	NM_018055.5(NODAL):c.588C>G (p.Leu196=) GRCh37: Chr10:72195345 GRCh38: Chr10:70435589	NODAL		not provided, Heterotaxy, visceral, 5, autosomal, not specified, Holoprosencephaly sequence	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128518280.	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 79099181.	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 69039982.	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 106999283.	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 87798584.	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 30030185.	NM_018055.5(NODAL):c.550C>T (p.Pro184Ser) GRCh37: Chr10:72195383 GRCh38: Chr10:70435627	NODAL	P184S, P51S	Heterotaxy, visceral, 5, autosomal, Inborn genetic diseases, Holoprosencephaly sequence	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 826886.	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 229003387.	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 113530288.	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 26099089.	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 69764690.	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 30030291.	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 87945092.	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 9588293.	NM_018055.5(NODAL):c.494A>G (p.His165Arg) GRCh37: Chr10:72195439 GRCh38: Chr10:70435683	NODAL	H165R, H32R	not provided, Heterotaxy, visceral, 5, autosomal, not specified, Holoprosencephaly sequence	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70450794.	NM_018055.5(NODAL):c.473C>T (p.Pro158Leu) GRCh37: Chr10:72195460 GRCh38: Chr10:70435704	NODAL	P25L, P158L	Heterotaxy, visceral, 5, autosomal	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 87945195.	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 66361996.	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 148060697.	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 30030398.	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 243438599.	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 2243798100.	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

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