U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 75

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Dec 16, 2011)
no assertion criteria provided
2.
GRCh37:
Chr10:81251577-81557993
GRCh38:
Chr10:79491821-79798351
NUTM2B-AS1, LINC02679, EIF5AL1, NUTM2B, SFTPA1, LOC729815, SFTPA2See casesBenign
(Feb 6, 2013)
no assertion criteria provided
3.
GRCh37:
Chr10:81371421
GRCh38:
Chr10:79611665
SFTPA1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr10:81371607
GRCh38:
Chr10:79611851
SFTPA1N24T, N9Tnot specifiedLikely benign
(Dec 16, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr10:81371637
GRCh38:
Chr10:79611881
SFTPA1V19A, V34Anot specified, not providedBenign/Likely benign
(Jun 9, 2021)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr10:81371655
GRCh38:
Chr10:79611899
SFTPA1V40D, V25DInborn genetic diseasesUncertain significance
(Jun 22, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr10:81371672
GRCh38:
Chr10:79611916
SFTPA1G31R, G46Rnot specifiedUncertain significance
(Dec 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr10:81371680
GRCh38:
Chr10:79611924
SFTPA1not providedLikely benign
(May 15, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr10:81371698
GRCh38:
Chr10:79611942
SFTPA1not specifiedBenign
(Aug 12, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr10:81371716
GRCh38:
Chr10:79611960
SFTPA1D45E, D60Enot specifiedUncertain significance
(Jan 29, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr10:81371729
GRCh38:
Chr10:79611973
SFTPA1L50V, L65Vnot provided, not specifiedBenign/Likely benign
(Jun 9, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr10:81372080
GRCh38:
Chr10:79612324
SFTPA1P62L, P77Lnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
13.
GRCh37:
Chr10:81372081
GRCh38:
Chr10:79612325
SFTPA1not specifiedBenign
(Jun 13, 2013)
criteria provided, single submitter
14.
GRCh37:
Chr10:81372121
GRCh38:
Chr10:79612365
SFTPA1P76S, P91SInborn genetic diseasesUncertain significance
(Dec 19, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr10:81372166
GRCh38:
Chr10:79612410
SFTPA1P106A, P91A, P57A, P42Anot provided, not specifiedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr10:81372172
GRCh38:
Chr10:79612416
SFTPA1E108K, E59K, E44K, E93KInborn genetic diseasesUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr10:81372187
GRCh38:
Chr10:79612431
SFTPA1G113R, G49R, G64R, G98RProximal 16p11.2 microdeletion syndromeUncertain significance
(Jan 8, 2020)
criteria provided, single submitter
18.
GRCh37:
Chr10:81372232
GRCh38:
Chr10:79612476
SFTPA1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr10:81372445
GRCh38:
Chr10:79612689
SFTPA1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr10:81372502
GRCh38:
Chr10:79612746
SFTPA1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
21.
GRCh38:
Chr10:79612764-80230790
not providedUncertain significance
(Jun 30, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr10:81372661-81372663
GRCh38:
Chr10:79612905-79612907
SFTPA1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr10:81372687
GRCh38:
Chr10:79612931
SFTPA1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr10:81372708
GRCh38:
Chr10:79612952
SFTPA1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr10:81372712
GRCh38:
Chr10:79612956
SFTPA1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr10:81372994
GRCh38:
Chr10:79613238
SFTPA1not specified, not providedBenign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr10:81372996
GRCh38:
Chr10:79613240
SFTPA1R130I, R115I, R66I, R81IInborn genetic diseasesUncertain significance
(May 30, 2023)
criteria provided, single submitter
28.
GRCh37:
Chr10:81373182
GRCh38:
Chr10:79613426
SFTPA1not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr10:81373520
GRCh38:
Chr10:79613764
SFTPA1T84I, T133I, T148I, T99IInborn genetic diseasesUncertain significance
(Dec 28, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr10:81373521
GRCh38:
Chr10:79613765
SFTPA1not specifiedBenign
(Feb 21, 2013)
criteria provided, single submitter
31.
GRCh37:
Chr10:81373542
GRCh38:
Chr10:79613786
SFTPA1not providedLikely benign
(Jun 21, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr10:81373562
GRCh38:
Chr10:79613806
SFTPA1T98S, T113S, T147S, T162SInborn genetic diseasesUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr10:81373604
GRCh38:
Chr10:79613848
SFTPA1R161H, R176H, R112H, R127HInborn genetic diseases, Interstitial lung disease 1Conflicting interpretations of pathogenicity
(Apr 19, 2023)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr10:81373620
GRCh38:
Chr10:79613864
SFTPA1not providedLikely benign
(Apr 10, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr10:81373642
GRCh38:
Chr10:79613886
SFTPA1I140V, I125V, I189V, I174VInborn genetic diseasesUncertain significance
(May 18, 2023)
criteria provided, single submitter
36.
GRCh37:
Chr10:81373654
GRCh38:
Chr10:79613898
SFTPA1V178M, V129M, V144M, V193MInterstitial lung disease 1Pathogenic
(Nov 19, 2021)
no assertion criteria provided
37.
GRCh37:
Chr10:81373664
GRCh38:
Chr10:79613908
SFTPA1Y132F, Y147F, Y196F, Y181FInborn genetic diseasesUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr10:81373674
GRCh38:
Chr10:79613918
SFTPA1not specified, not providedBenign
(Nov 12, 2018)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr10:81373699
GRCh38:
Chr10:79613943
SFTPA1P193S, P208S, P144S, P159Snot specifiedUncertain significance
(Sep 18, 2013)
criteria provided, single submitter
40.
GRCh37:
Chr10:81373728
GRCh38:
Chr10:79613972
SFTPA1not provided, not specifiedBenign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr10:81373743
GRCh38:
Chr10:79613987
SFTPA1N222K, N158K, N173K, N207KInborn genetic diseasesUncertain significance
(Dec 17, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr10:81373744
GRCh38:
Chr10:79613988
SFTPA1Y208H, Y159H, Y174H, Y223HInterstitial lung disease 1Pathogenic
(Nov 19, 2021)
no assertion criteria provided
43.
GRCh37:
Chr10:81373748
GRCh38:
Chr10:79613992
SFTPA1T209N, T224N, T160N, T175Nnot specifiedUncertain significance
(Oct 10, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr10:81373752
GRCh38:
Chr10:79613996
SFTPA1N210K, N225K, N161K, N176Knot specified, not providedLikely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr10:81373753
GRCh38:
Chr10:79613997
SFTPA1W211R, W162R, W177R, W226RInterstitial lung disease 1Pathogenic
(Nov 18, 2021)
no assertion criteria provided
46.
GRCh37:
Chr10:81373755
GRCh38:
Chr10:79613999
SFTPA1W162C, W177C, W211C, W226CInterstitial lung disease 1Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr10:81373759
GRCh38:
Chr10:79614003
SFTPA1R164*, R179*, R213*, R228*not specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr10:81373768
GRCh38:
Chr10:79614012
SFTPA1P216A, P231A, P167A, P182Anot specifiedUncertain significance
(Sep 2, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr10:81373770
GRCh38:
Chr10:79614014
SFTPA1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr10:81373771
GRCh38:
Chr10:79614015
SFTPA1A217T, A232T, A168T, A183Tnot specifiedUncertain significance
(Nov 11, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr10:81373777
GRCh38:
Chr10:79614021
SFTPA1R219W, R234W, R185W, R170Wnot provided, not specifiedBenign
(Nov 12, 2018)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr10:81373778
GRCh38:
Chr10:79614022
SFTPA1R170L, R185L, R219L, R234LInterstitial lung disease 2Uncertain significance
(Aug 1, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:81373789
GRCh38:
Chr10:79614033
SFTPA1Q238K, Q223K, Q189K, Q174Knot providedUncertain significance
(Jun 1, 2012)
no assertion criteria provided
54.
GRCh37:
Chr10:81373795
GRCh38:
Chr10:79614039
SFTPA1V225M, V176M, V191M, V240MInterstitial lung disease 1Pathogenic
(Nov 18, 2021)
no assertion criteria provided
55.
GRCh37:
Chr10:81373799
GRCh38:
Chr10:79614043
SFTPA1E226G, E241G, E177G, E192Gnot specifiedUncertain significance
(Sep 2, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr10:81373846
GRCh38:
Chr10:79614090
SFTPA1R242*, 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
57.
GRCh37:
Chr10:81373847
GRCh38:
Chr10:79614091
SFTPA1R193Q, R208Q, R242Q, R257Qnot providedUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr10:81374082
GRCh38:
Chr10:79614326
SFTPA1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr10:81374083
GRCh38:
Chr10:79614327
SFTPA1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr10:81374118
GRCh38:
Chr10:79614362
SFTPA1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
61.
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 10qPathogenicno assertion criteria provided
62.
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 syndromePathogenicno assertion criteria provided
63.
GRCh37:
Chr10:81297993-81422572
SFTPA1, SFTPA2not specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr10:81013486-81409192
EIF5AL1, PPIF, SFTPA1, SFTPA2, ZCCHC24, ZMIZ1not providedUncertain significance
(Jan 20, 2021)
no assertion criteria provided
65.
GRCh37:
Chr10:81028088-82059110
not providedUncertain significance
(Jul 9, 2019)
no assertion criteria provided
66.
GRCh37:
Chr10:81297993-81422572
SFTPA1, SFTPA2not providedUncertain significance
(Jan 12, 2018)
no assertion criteria provided
67.
GRCh37:
Chr10:81297994-81422268
SFTPA1, SFTPA2not providedUncertain significance
(Dec 14, 2017)
no assertion criteria provided
68.
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 providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
69.
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 providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
70.
GRCh37:
Chr10:69040366-93194993
not providedPathogenic
(Sep 6, 2018)
no assertion criteria provided
71.
GRCh37:
Chr10:79808669-84008729
not providedUncertain significance
(Jan 10, 2018)
no assertion criteria provided
72.
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 responsedrug response
(Nov 27, 2017)
no assertion criteria provided
73.
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 casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
74.
GRCh37:
Chr10:100027-135427143