| - GRCh37:
- Chr10:52489127-88906961
- GRCh38:
- Chr10:50729367-87147204
| 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, LOC129390170, LOC129390171, LOC129390172, LOC129390173, LOC129390174, LOC129390175, LOC129390176, LOC129390177, LOC129390178, LOC129390179, LOC129390180, LOC129390181, LOC129390182, LOC129390183, LOC129390184, LOC129390185, LOC129390186, LOC129390187, LOC129390188, LOC129390189, LOC129390190, LOC129390191, LOC129390192, LOC129390193, LOC129390194, LOC129390195, LOC129390196, LOC129390197, LOC129390198, LOC129390199, LOC129390200, LOC129390201, LOC129390202, LOC129390203, LOC129390204, LOC129390205, LOC129390206, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, LOC130003835, LOC130003836, LOC130003837, LOC130003838, LOC130003839, LOC130003840, LOC130003841, LOC130003842, LOC130003843, LOC130003844, LOC130003845, LOC130003846, LOC130003847, LOC130003848, LOC130003849, LOC130003850, LOC130003851, LOC130003852, LOC130003853, LOC130003854, LOC130003855, LOC130003856, LOC130003857, LOC130003858, LOC130003859, LOC130003860, LOC130003861, LOC130003862, LOC130003863, LOC130003864, LOC130003865, LOC130003866, LOC130003867, LOC130003868, LOC130003869, LOC130003870, LOC130003871, LOC130003872, LOC130003873, LOC130003874, LOC130003875, LOC130003876, LOC130003877, LOC130003878, LOC130003879, LOC130003880, LOC130003881, LOC130003882, LOC130003883, LOC130003884, LOC130003885, LOC130003886, LOC130003887, LOC130003888, LOC130003889, LOC130003890, LOC130003891, LOC130003892, LOC130003893, LOC130003894, LOC130003895, LOC130003896, LOC130003897, LOC130003898, LOC130003899, LOC130003900, LOC130003901, LOC130003902, LOC130003903, LOC130003904, LOC130003905, LOC130003906, LOC130003907, LOC130003908, LOC130003909, LOC130003910, LOC130003911, LOC130003912, LOC130003913, LOC130003914, LOC130003915, LOC130003916, LOC130003917, LOC130003918, LOC130003919, LOC130003920, LOC130003921, LOC130003922, LOC130003923, LOC130003924, LOC130003925, LOC130003926, LOC130003927, LOC130003928, LOC130003929, LOC130003930, LOC130003931, LOC130003932, LOC130003933, LOC130003934, LOC130003935, LOC130003936, LOC130003937, LOC130003938, LOC130003939, LOC130003940, LOC130003941, LOC130003942, LOC130003943, LOC130003944, LOC130003945, LOC130003946, LOC130003947, LOC130003948, LOC130003949, LOC130003950, LOC130003951, LOC130003952, LOC130003953, LOC130003954, LOC130003955, LOC130003956, LOC130003957, LOC130003958, LOC130003959, LOC130003960, LOC130003961, LOC130003962, LOC130003963, LOC130003964, LOC130003965, LOC130003966, LOC130003967, LOC130003968, LOC130003969, LOC130003970, LOC130003971, LOC130003972, LOC130003973, LOC130003974, LOC130003975, LOC130003976, LOC130003977, LOC130003978, LOC130003979, LOC130003980, LOC130003981, LOC130003982, LOC130003983, LOC130003984, LOC130003985, LOC130003986, LOC130003987, LOC130003988, LOC130003989, LOC130003990, LOC130003991, LOC130003992, LOC130003993, LOC130003994, LOC130003995, LOC130003996, LOC130003997, LOC130003998, LOC130003999, LOC130004000, LOC130004001, LOC130004002, LOC130004003, LOC130004004, LOC130004005, LOC130004006, LOC130004007, LOC130004008, LOC130004009, LOC130004010, LOC130004011, LOC130004012, LOC130004013, LOC130004014, LOC130004015, LOC130004016, LOC130004017, LOC130004018, LOC130004019, LOC130004020, LOC130004021, LOC130004022, LOC130004023, LOC130004024, LOC130004025, LOC130004026, LOC130004027, LOC130004028, LOC130004029, LOC130004030, LOC130004031, LOC130004032, LOC130004033, LOC130004034, LOC130004035, LOC130004036, LOC130004037, LOC130004038, LOC130004039, LOC130004040, LOC130004041, LOC130004042, LOC130004043, LOC130004044, LOC130004045, LOC130004046, LOC130004047, LOC130004048, LOC130004049, LOC130004050, LOC130004051, LOC130004052, LOC130004053, LOC130004054, LOC130004055, LOC130004056, LOC130004057, LOC130004058, LOC130004059, LOC130004060, LOC130004061, LOC130004062, LOC130004063, LOC130004064, LOC130004065, LOC130004066, LOC130004067, LOC130004068, LOC130004069, LOC130004070, LOC130004071, LOC130004072, LOC130004073, LOC130004074, LOC130004075, LOC130004076, LOC130004077, LOC130004078, LOC130004079, LOC130004080, LOC130004081, LOC130004082, LOC130004083, LOC130004084, LOC130004085, LOC130004086, LOC130004087, LOC130004088, LOC130004089, LOC130004090, LOC130004091, LOC130004092, LOC130004093, LOC130004094, LOC130004095, LOC130004096, LOC130004097, LOC130004098, LOC130004099, LOC130004100, LOC130004101, LOC130004102, LOC130004103, LOC130004104, LOC130004105, LOC130004106, LOC130004107, LOC130004108, LOC130004109, LOC130004110, LOC130004111, LOC130004112, LOC130004113, LOC130004114, LOC130004115, LOC130004116, LOC130004117, LOC130004118, LOC130004119, LOC130004120, LOC130004121, LOC130004122, LOC130004123, LOC130004124, LOC130004125, LOC130004126, LOC130004127, LOC130004128, LOC130004129, LOC130004130, LOC130004131, LOC130004132, LOC130004133, LOC130004134, LOC130004135, LOC130004136, LOC130004137, LOC130004138, LOC130004139, LOC130004140, LOC130004141, LOC130004142, LOC130004143, LOC130004144, LOC130004145, LOC130004146, LOC130004147, LOC130004148, LOC130004149, LOC130004150, LOC130004151, LOC130004152, LOC130004153, LOC130004154, LOC130004155, LOC130004156, LOC130004157, LOC130004158, LOC130004159, LOC130004160, LOC130004161, LOC130004162, LOC130004163, LOC130004164, LOC130004165, LOC130004166, LOC130004167, LOC130004168, LOC130004169, LOC130004170, LOC130004171, LOC130004172, LOC130004173, LOC130004174, LOC130004175, LOC130004176, LOC130004177, LOC130004178, LOC130004179, LOC130004180, LOC130004181, LOC130004182, LOC130004183, LOC130004184, LOC130004185, LOC130004186, LOC130004187, LOC130004188, LOC130004189, LOC130004190, LOC130004191, LOC130004192, LOC130004193, LOC130004194, LOC130004195, LOC130004196, LOC130004197, LOC130004198, LOC130004199, LOC130004200, LOC130004201, LOC130004202, LOC130004203, LOC130004204, LOC130004205, LOC130004206, LOC130004207, LOC130004208, LOC130004209, LOC130004210, LOC130004211, LOC130004212, LOC130004213, LOC130004214, LOC130004215, LOC130004216, LOC130004217, LOC130004218, LOC130004219, LOC130004220, LOC130004221, LOC130004222, LOC130004223, LOC130004224, LOC130004225, LOC130004226, LOC130004227, LOC130004228, LOC130004229, LOC130004230, LOC130004231, LOC130004232, LOC130004233, LOC130004234, LOC130004235, LOC130004236, LOC130004237, LOC130004238, LOC130004239, LOC130004240, LOC130004241, LOC130004242, LOC130004243, LOC130004244, LOC130004245, LOC130004246, LOC130004247, LOC130004248, LOC130004249, LOC130004250, LOC130004251, LOC130004252, LOC130004253, LOC130004254, LOC130004255, LOC130004256, LOC132089791, 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, DDIT4-AS1, 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, LOC132089793, LOC132089794, LOC132089795, LOC132089796, LOC132089797, LOC132089798, LOC132089799, LOC132089801, LOC132089804, LOC132089805, LOC132089806, LOC132089807, LOC132089808, LOC132089809, LOC132089810, LOC132089811, LOC132089812, LOC132089813, LOC132089814, LOC132089815, LOC132089816, LOC132089817, LOC132089818, LOC132089819, LOC132089820, LOC132089821, LOC132089822, LOC132089823, LOC132089824, LOC132089825, LOC132089826, LOC132089827, LOC132089828, LOC132089829, LOC132089830, LOC132089831, LOC132089832, LOC132089833, LOC132089834, LOC132089835, LOC132089836, LOC132089837, LOC132089838, LOC132089839, LOC132089840, LOC132089841, LOC132089842, LOC132089843, LOC132089844, LOC132089845, LOC132089846, LOC132089847, LOC132089849, LOC132089850, LOC132089851, LOC132089852, LOC132089853, LOC132089854, LOC132089855, LOC132089856, LOC132089857, LOC132089858, LOC132089859, LOC132089860, LOC132089862, LOC132089863, LOC132089864, LOC132089865, LOC132089866, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090811, LOC132090812, LOC132090813, LOC132090814, LOC132090815, LOC132090816, LOC132090817, LOC132090818, LOC132090819, LOC132090820, LOC132090821, LOC132090822, LOC132090823, LOC132090824, LOC132211101, LOC132211102, 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, WAPL-DT, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF365, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1, ZWINT | | See cases | Pathogenic (Dec 16, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr10:81251577-81557993
- GRCh38:
- Chr10:79491821-79798351
| NUTM2B-AS1, LINC02679, EIF5AL1, NUTM2B, SFTPA1, LOC729815, SFTPA2 | | See cases | Benign (Feb 6, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr10:81371421
- GRCh38:
- Chr10:79611665
| SFTPA1 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81371607
- GRCh38:
- Chr10:79611851
| SFTPA1 | N24T, N9T | not specified | Likely benign (Dec 16, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81371637
- GRCh38:
- Chr10:79611881
| SFTPA1 | V19A, V34A | not specified, not provided | Benign/Likely benign (Jun 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:81371655
- GRCh38:
- Chr10:79611899
| SFTPA1 | V40D, V25D | Inborn genetic diseases | Uncertain significance (Jun 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81371672
- GRCh38:
- Chr10:79611916
| SFTPA1 | G31R, G46R | not specified | Uncertain significance (Dec 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81371680
- GRCh38:
- Chr10:79611924
| SFTPA1 | | not provided | Likely benign (May 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81371698
- GRCh38:
- Chr10:79611942
| SFTPA1 | | not specified | Benign (Aug 12, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81371716
- GRCh38:
- Chr10:79611960
| SFTPA1 | D45E, D60E | not specified | Uncertain significance (Jan 29, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81371729
- GRCh38:
- Chr10:79611973
| SFTPA1 | L50V, L65V | not provided, not specified | Benign/Likely benign (Jun 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:81372080
- GRCh38:
- Chr10:79612324
| SFTPA1 | P62L, P77L | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372081
- GRCh38:
- Chr10:79612325
| SFTPA1 | | not specified | Benign (Jun 13, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372121
- GRCh38:
- Chr10:79612365
| SFTPA1 | P76S, P91S | Inborn genetic diseases | Uncertain significance (Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372166
- GRCh38:
- Chr10:79612410
| SFTPA1 | P106A, P91A, P57A, P42A | not provided, not specified | Benign (Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:81372172
- GRCh38:
- Chr10:79612416
| SFTPA1 | E108K, E59K, E44K, E93K | Inborn genetic diseases | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372187
- GRCh38:
- Chr10:79612431
| SFTPA1 | G113R, G49R, G64R, G98R | Proximal 16p11.2 microdeletion syndrome | Uncertain significance (Jan 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372232
- GRCh38:
- Chr10:79612476
| SFTPA1 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372445
- GRCh38:
- Chr10:79612689
| SFTPA1 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372502
- GRCh38:
- Chr10:79612746
| SFTPA1 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh38:
- Chr10:79612764-80230790
| LOC130004183, LOC130004184, LOC130004185, LOC642361, NUTM2B, NUTM2B-AS1, NUTM2E, LOC130004186, PLAC9, SFTPA1, SFTPD, TMEM254, TMEM254-AS1, LOC130004187, LOC130004188, ANXA11, LINC00857, LINC02679, LOC126860977, LOC126860978, LOC126860979 | | not provided | Uncertain significance (Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372661-81372663
- GRCh38:
- Chr10:79612905-79612907
| SFTPA1 | | not provided | Benign (Jun 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372687
- GRCh38:
- Chr10:79612931
| SFTPA1 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372708
- GRCh38:
- Chr10:79612952
| SFTPA1 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372712
- GRCh38:
- Chr10:79612956
| SFTPA1 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81372994
- GRCh38:
- Chr10:79613238
| SFTPA1 | | not specified, not provided | Benign/Likely benign (Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:81372996
- GRCh38:
- Chr10:79613240
| SFTPA1 | R130I, R115I, R66I, R81I | Inborn genetic diseases | Uncertain significance (May 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373182
- GRCh38:
- Chr10:79613426
| SFTPA1 | | not provided | Benign (Jun 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373520
- GRCh38:
- Chr10:79613764
| SFTPA1 | T84I, T133I, T148I, T99I | Inborn genetic diseases | Uncertain significance (Dec 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373521
- GRCh38:
- Chr10:79613765
| SFTPA1 | | not specified | Benign (Feb 21, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373542
- GRCh38:
- Chr10:79613786
| SFTPA1 | | not provided | Likely benign (Jun 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373562
- GRCh38:
- Chr10:79613806
| SFTPA1 | T98S, T113S, T147S, T162S | Inborn genetic diseases | Uncertain significance (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373604
- GRCh38:
- Chr10:79613848
| SFTPA1 | R161H, R176H, R112H, R127H | Inborn genetic diseases, Interstitial lung disease 1 | Conflicting interpretations of pathogenicity (Apr 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:81373620
- GRCh38:
- Chr10:79613864
| SFTPA1 | | not provided | Likely benign (Apr 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373642
- GRCh38:
- Chr10:79613886
| SFTPA1 | I140V, I125V, I189V, I174V | Inborn genetic diseases | Uncertain significance (May 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373654
- GRCh38:
- Chr10:79613898
| SFTPA1 | V178M, V129M, V144M, V193M | Interstitial lung disease 1 | Pathogenic (Nov 19, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr10:81373664
- GRCh38:
- Chr10:79613908
| SFTPA1 | Y132F, Y147F, Y196F, Y181F | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373674
- GRCh38:
- Chr10:79613918
| SFTPA1 | | not specified, not provided | Benign (Nov 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:81373699
- GRCh38:
- Chr10:79613943
| SFTPA1 | P193S, P208S, P144S, P159S | not specified | Uncertain significance (Sep 18, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373728
- GRCh38:
- Chr10:79613972
| SFTPA1 | | not provided, not specified | Benign/Likely benign (Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:81373743
- GRCh38:
- Chr10:79613987
| SFTPA1 | N222K, N158K, N173K, N207K | Inborn genetic diseases | Uncertain significance (Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373744
- GRCh38:
- Chr10:79613988
| SFTPA1 | Y208H, Y159H, Y174H, Y223H | Interstitial lung disease 1 | Pathogenic (Nov 19, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr10:81373748
- GRCh38:
- Chr10:79613992
| SFTPA1 | T209N, T224N, T160N, T175N | not specified | Uncertain significance (Oct 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373752
- GRCh38:
- Chr10:79613996
| SFTPA1 | N210K, N225K, N161K, N176K | not specified, not provided | Likely benign (Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:81373753
- GRCh38:
- Chr10:79613997
| SFTPA1 | W211R, W162R, W177R, W226R | Interstitial lung disease 1 | Pathogenic (Nov 18, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr10:81373755
- GRCh38:
- Chr10:79613999
| SFTPA1 | W162C, W177C, W211C, W226C | Interstitial lung disease 1 | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373759
- GRCh38:
- Chr10:79614003
| SFTPA1 | R164*, R179*, R213*, R228* | not specified | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373768
- GRCh38:
- Chr10:79614012
| SFTPA1 | P216A, P231A, P167A, P182A | not specified | Uncertain significance (Sep 2, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373770
- GRCh38:
- Chr10:79614014
| SFTPA1 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373771
- GRCh38:
- Chr10:79614015
| SFTPA1 | A217T, A232T, A168T, A183T | not specified | Uncertain significance (Nov 11, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373777
- GRCh38:
- Chr10:79614021
| SFTPA1 | R219W, R234W, R185W, R170W | not provided, not specified | Benign (Nov 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:81373778
- GRCh38:
- Chr10:79614022
| SFTPA1 | R170L, R185L, R219L, R234L | Interstitial lung disease 2 | Uncertain significance (Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373789
- GRCh38:
- Chr10:79614033
| SFTPA1 | Q238K, Q223K, Q189K, Q174K | not provided | Uncertain significance (Jun 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr10:81373795
- GRCh38:
- Chr10:79614039
| SFTPA1 | V225M, V176M, V191M, V240M | Interstitial lung disease 1 | Pathogenic (Nov 18, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr10:81373799
- GRCh38:
- Chr10:79614043
| SFTPA1 | E226G, E241G, E177G, E192G | not specified | Uncertain significance (Sep 2, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373846
- GRCh38:
- Chr10:79614090
| SFTPA1 | R242*, R257*, R193*, R208* | Respiratory distress associated with prematurity, Interstitial lung disease 1, not specified
| Uncertain significance (Jul 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:81373847
- GRCh38:
- Chr10:79614091
| SFTPA1 | R193Q, R208Q, R242Q, R257Q | not provided | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81374082
- GRCh38:
- Chr10:79614326
| SFTPA1 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81374083
- GRCh38:
- Chr10:79614327
| SFTPA1 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81374118
- GRCh38:
- Chr10:79614362
| SFTPA1 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:11138692-135427143
| MTG1, NPS, PDCD4, PDE6C, PDLIM1, OGDHL, OIT3, OLAH, OPALIN, MTPAP, MYO3A, MYOF, MYOZ1, MYPN, MXI1, MTRNR2L5, MTRNR2L7, NPY4R, NRAP, NRBF2, OGA, MBL2, MCM10, MCMBP, MCU, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDSS1, PDZD7, PDZD8, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPMIP5, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT, A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASCC1, ATAD1, ATE1, ATOH7, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf120, C10orf126, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GBF1, GDF10, GDF2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KLLN, KNDC1, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8 | | Distal trisomy 10q | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:12829206-135427143
| A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASCC1, ATAD1, ATE1, ATOH7, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf120, C10orf126, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDH23, CDHR1, CDK1, CDNF, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHX32, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GBF1, GDF10, GDF2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KLLN, KNDC1, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKG1, PRLHR, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEMA4G, SEPHS1, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPMIP5, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UNC5B, UROS, USP54, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT | | Distal 10q deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:81297993-81422572
| SFTPA1, SFTPA2 | | not specified | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81013486-81409192
| EIF5AL1, PPIF, SFTPA1, SFTPA2, ZCCHC24, ZMIZ1 | | not provided | Uncertain significance (Jan 20, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr10:81028088-82059110
| NUTM2B, ANXA11, PPIF, SFTPA2, MAT1A, EIF5AL1, SFTPA1, SFTPD, ZCCHC24, PLAC9, TMEM254, ZMIZ1 | | not provided | Uncertain significance (Jul 9, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr10:81297993-81422572
| SFTPA1, SFTPA2 | | not provided | Uncertain significance (Jan 12, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr10:81297994-81422268
| SFTPA1, SFTPA2 | | not provided | Uncertain significance (Dec 14, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr10:98087-135477883
| A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADARB2, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASB13, ASCC1, ATAD1, ATE1, ATOH7, ATP5F1C, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf113, C10orf12, C10orf120, C10orf126, C10orf131, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf82, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALML3, CALML3-AS1, CALML5, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBH1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRG2B, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GATA3, GBF1, GDF10, GDF2, GDI2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, GTPBP4, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IDI1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, IL15RA, IL2RA, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITIH2, ITIH5, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KIN, KLF6, KLLN, KNDC1, LARP4B, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC100131132, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PFKFB3, PFKP, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKCQ, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM17, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF3, TAF5, TASOR2, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBAL3, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UCN3, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WDR37, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZMYND11, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr10:73232-135524321
| PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKCQ, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM17, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF3, TAF5, TASOR2, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBAL3, TUBB8, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UCN3, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WDR37, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZMYND11, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT, A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADARB2, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASB13, ASCC1, ATAD1, ATE1, ATOH7, ATP5F1C, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf113, C10orf12, C10orf120, C10orf126, C10orf131, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf82, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALML3, CALML3-AS1, CALML5, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBH1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRG2B, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GATA3, GBF1, GDF10, GDF2, GDI2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, GTPBP4, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IDI1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, IL15RA, IL2RA, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITIH2, ITIH5, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KIN, KLF6, KLLN, KNDC1, LARP4B, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC100131132, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PFKFB3, PFKP, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr10:69040366-93194993
| ACTA2, ADAMTS14, ADIRF, ADIRF-AS1, ADK, AGAP11, AGAP5, AIFM2, ANAPC16, ANKRD1, ANKRD22, ANXA11, ANXA7, AP3M1, ASCC1, ATAD1, ATOH7, BMPR1A, C10orf105, C10orf55, CAMK2G, CCAR1, CCSER2, CDH23, CDHR1, CFAP70, CH25H, CHCHD1, CHST3, COL13A1, COMTD1, CTNNA3, DDIT4, DDX21, DDX50, DLG5, DNA2, DNAJB12, DNAJC12, DNAJC9, DUSP13B, DUSP29, DYDC1, DYDC2, ECD, EIF4EBP2, EIF5AL1, FAM149B1, FAM241B, FAM25A, FAS, FAS-AS1, FUT11, GHITM, GLUD1, GPR15LG, GRID1, HECTD2, HERC4, HK1, HKDC1, HNRNPH3, HTR7, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, KAT6B, KCNMA1, KIF20B, KIFBP, KLLN, LDB3, LINC01520, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC100131132, LOC101929662, LRIT1, LRIT2, LRMDA, LRRC20, MACROH2A2, MAT1A, MCU, MICU1, MINPP1, MIR107, MIR346, MMRN2, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NEUROG3, NODAL, NPFFR1, NRG3, NUDT13, NUTM2A, NUTM2B, OIT3, OPN4, P4HA1, PALD1, PANK1, PAPSS2, PBLD, PCBD1, PCGF5, PLA2G12B, PLAC9, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PRF1, PRXL2A, PSAP, PTEN, RGR, RNLS, RPP30, RPS24, RUFY2, SAMD8, SAR1A, SEC24C, SFTPA1, SFTPA2, SFTPD, SGPL1, SH2D4B, SHLD2, SIRT1, SLC16A12, SLC25A16, SLC29A3, SNCG, SPOCK2, SRGN, STAMBPL1, STOX1, SUPV3L1, SYNPO2L, TACR2, TBATA, TET1, TMEM254, TSPAN14, TSPAN15, TYSND1, UNC5B, USP54, VCL, VDAC2, VPS26A, VSIR, WAPL, ZCCHC24, ZMIZ1, ZNF503, ZSWIM8 | | not provided | Pathogenic (Sep 6, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr10:79808669-84008729
| MAT1A, DYDC1, ZCCHC24, ANXA11, RPS24, ZMIZ1, TSPAN14, PPIF, PRXL2A, NUTM2B, PLAC9, SFTPA2, TMEM254, DYDC2, EIF5AL1, NRG3, SFTPA1, SFTPD, SH2D4B | | not provided | Uncertain significance (Jan 10, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr10:42347406-135534747
| COX15, CPEB3, FAM204A, FAM241B, HOGA1, HPS1, CPN1, FAM24A, FAM24B, HPS6, HPSE2, MAPK8, OPN4, OR13A1, RASGEF1A, TCERG1L-AS1, TCF7L2, ZNF485, ZNF488, ZSWIM8, ZRANB1, ZNF503, ZWINT, ZNF511, ZNF518A, TECTB, TET1, TEX36, TFAM, TIAL1, TIMM23, TLL2, TCTN3, TDRD1, TMEM273, TMEM72, TNKS2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, SFR1, SFRP5, SFTPA1, REEP3, SCD, RASSF4, RBM20, RBP3, SEC23IP, SEC24C, SFTPA2, RBP4, SEC31B, SEMA4G, PDLIM1, PDZD7, PDZD8, PGAM1, P4HA1, PALD1, PGBD3, PANK1, PAOX, PAPSS2, PARG, PDCD11, PDCD4, PDE6C, MIR146B, MARCHF5, MFSD13A, MGMT, MICU1, MINPP1, MIR107, MARCHF8, MARVELD1, MAT1A, MBL2, MCMBP, MCU, HSPA12A, IFIT1, IFIT1B, IFIT2, IFIT3, INA, INPP5A, IFIT5, IKZF5, INPP5F, INSYN2A, HTR7, HTRA1, IDE, FGFR2, FHIP2A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FGF8, FGFBP3, FOXI2, FRA10AC1, FAM25A, CYP2C8, CYP2C9, CTBP2, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2E1, CPXM2, CRTAC1, CSGALNACT2, CSTF2T, C10orf55, C10orf62, C10orf12, C10orf120, C10orf105, C10orf131, C10orf53, BTAF1, BTBD16, BTRC, BUB3, C10orf71, C10orf82, C10orf88, C10orf90, C10orf95, CABCOCO1, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC6, CCNJ, CCSER2, CDH23, CDHR1, CDK1, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMTD1, CTNNA3, CUEDC2, CUTC, CUZD1, CWF19L1, CXCL12, DCLRE1A, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHX32, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, ECD, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENO4, ENTPD1, ENTPD7, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM13C, FAM149B1, FAM170B, FAS, FAS-AS1, FBXL15, FBXW4, FFAR4, FRAT1, FRAT2, FRG2B, FRMPD2, FUOM, FUT11, FXYD4, GBF1, GDF10, GDF2, GFRA1, GHITM, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, HABP2, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, IPMK, ITPRIP, JAKMIP3, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIF11, KIF20B, KIFBP, KLLN, KNDC1, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC100131132, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LZTS2, MACROH2A2, MIR346, MKI67, MMP21, MMRN2, MMS19, MORN4, MRPL43, MRPS16, MSMB, MSS51, MTG1, MTRNR2L5, MXI1, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NSMCE4A, NT5C2, NUDT13, NUTM2A, NUTM2B, OAT, OGA, OGDHL, OIT3, OPALIN, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PHYHIPL, PI4K2A, PIK3AP1, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRKG1, PRLHR, PRXL2A, PSAP, PSD, PSTK, PTEN, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPS24, RRP12, RTKN2, RUFY2, SAMD8, SAR1A, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPOCK2, SPRN, SRGN, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UNC5B, UROS, USP54, UTF1, VAX1, VCL, VDAC2, VENTX, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WNT8B, XPNPEP1, ZCCHC24, ZDHHC16, ZDHHC6, ZFAND4, ZFYVE27, ZMIZ1, ZNF22, ZNF22-AS1, ZNF239, ZNF32, ZNF33B, ZNF365, A1CF, ABCC2, ABLIM1, ABRAXAS2, ACADSB, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD2, ANKRD22, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, ARHGAP19, ARHGAP22, ARID5B, ARL3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASCC1, ATAD1, ATE1, ATOH7, ATP5MK, ATRNL1, AVPI1, BAG3, BBIP1, BCCIP, BICC1, BLNK, BLOC1S2, BMPR1A, BMS1, BNIP3, BORCS7 | | Poly (ADP-Ribose) polymerase inhibitor response | drug response (Nov 27, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr10:100027-135427143
| A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADARB2, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASB13, ASCC1, ATAD1, ATE1, ATOH7, ATP5F1C, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf113, C10orf12, C10orf120, C10orf126, C10orf131, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf82, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALML3, CALML3-AS1, CALML5, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBH1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GATA3, GBF1, GDF10, GDF2, GDI2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, GTPBP4, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IDI1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, IL15RA, IL2RA, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITIH2, ITIH5, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KIN, KLF6, KLLN, KNDC1, LARP4B, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC100131132, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PFKFB3, PFKP, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKCQ, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM17, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF3, TAF5, TASOR2, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBAL3, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UCN3, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WDR37, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZMYND11, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT | | See cases | Pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr10:100027-135427143
| NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PFKFB3, PFKP, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKCQ, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM17, RBM20, RBP3, RBP4, REEP3, |