ClinVar Miner

List of variants reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by New York Genome Center

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 474
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271 0.00086
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227 0.00048
NM_002139.4(RBMX):c.997G>T (p.Asp333Tyr) rs148934011 0.00031
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile) rs147447659 0.00029
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00028
NM_001371986.1(UNC80):c.9877G>A (p.Glu3293Lys) rs199783352 0.00023
NM_003070.5(SMARCA2):c.2348+8A>C rs771019219 0.00020
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00020
NM_003922.4(HERC1):c.577A>G (p.Ile193Val) rs768690717 0.00019
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile) rs140414666 0.00015
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu) rs142516047 0.00012
NM_001365999.1(SZT2):c.9388C>T (p.Arg3130Trp) rs773708821 0.00011
NM_001393530.1(MATN4):c.1688-7C>A rs200891394 0.00011
NM_138927.4(SON):c.3785C>T (p.Thr1262Ile) rs144772325 0.00011
NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln) rs374546223 0.00009
NM_003073.5(SMARCB1):c.628+1487A>G rs185591492 0.00009
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463 0.00009
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met) rs398124331 0.00009
NM_001365999.1(SZT2):c.3187G>T (p.Val1063Leu) rs369627050 0.00008
NM_005993.5(TBCD):c.2693C>T (p.Thr898Ile) rs375374940 0.00008
NM_013275.6(ANKRD11):c.1360G>A (p.Val454Met) rs149569330 0.00008
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys) rs201150987 0.00007
NM_001365999.1(SZT2):c.7514G>A (p.Arg2505His) rs374896394 0.00006
NM_001367561.1(DOCK7):c.692G>A (p.Arg231His) rs757667036 0.00006
NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln) rs372361502 0.00006
NM_006015.6(ARID1A):c.5731A>G (p.Met1911Val) rs755338885 0.00006
NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys) rs146209687 0.00006
NM_013275.6(ANKRD11):c.5315C>T (p.Ser1772Leu) rs776119333 0.00006
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_001080517.3(SETD5):c.3319G>A (p.Val1107Ile) rs764498622 0.00005
NM_001365999.1(SZT2):c.3788G>A (p.Arg1263Gln) rs149633993 0.00005
NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser) rs544407449 0.00005
NM_003482.4(KMT2D):c.2798-7C>T rs1161537279 0.00005
NM_003922.4(HERC1):c.-26-25134A>G rs964673768 0.00005
NM_007118.4(TRIO):c.8120G>A (p.Arg2707Gln) rs768858988 0.00005
NM_013275.6(ANKRD11):c.4259T>C (p.Ile1420Thr) rs142828350 0.00005
NM_030632.3(ASXL3):c.5309G>A (p.Gly1770Glu) rs776403744 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg) rs777466386 0.00004
NM_001197104.2(KMT2A):c.6632G>A (p.Arg2211Gln) rs140529566 0.00004
NM_001330288.2(SMARCC2):c.2716-3del rs778570250 0.00004
NM_001365999.1(SZT2):c.7582C>T (p.Arg2528Cys) rs139028803 0.00004
NM_001371986.1(UNC80):c.1910A>G (p.His637Arg) rs188667729 0.00004
NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr) rs1001497433 0.00004
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr) rs767232021 0.00004
NM_003482.4(KMT2D):c.14519G>A (p.Gly4840Glu) rs1054025123 0.00004
NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser) rs1324674144 0.00004
NM_003922.4(HERC1):c.9869A>G (p.Gln3290Arg) rs200023211 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_005862.3(STAG1):c.1189G>C (p.Val397Leu) rs201846240 0.00004
NM_005862.3(STAG1):c.3104T>C (p.Met1035Thr) rs199902670 0.00004
NM_006662.3(SRCAP):c.1073A>G (p.Asp358Gly) rs778737366 0.00004
NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln) rs375163006 0.00004
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg) rs1210016465 0.00004
NM_018026.4(PACS1):c.2281C>A (p.Pro761Thr) rs578033982 0.00004
NM_024757.5(EHMT1):c.3532G>A (p.Asp1178Asn) rs371824384 0.00004
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn) rs371073215 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys) rs774677234 0.00004
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr) rs200889338 0.00003
NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val) rs746338306 0.00003
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg) rs1263635747 0.00003
NM_003036.4(SKI):c.1817C>T (p.Thr606Met) rs753862105 0.00003
NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met) rs146164750 0.00003
NM_003070.5(SMARCA2):c.880G>A (p.Ala294Thr) rs1007969036 0.00003
NM_003482.4(KMT2D):c.8366+6G>T rs749728191 0.00003
NM_006015.6(ARID1A):c.4564G>A (p.Ala1522Thr) rs199776442 0.00003
NM_007129.5(ZIC2):c.1361C>T (p.Ser454Phe) rs969318004 0.00003
NM_014141.6(CNTNAP2):c.102A>C (p.Lys34Asn) rs779436784 0.00003
NM_014795.4(ZEB2):c.-9C>T rs730881183 0.00003
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser) rs760985201 0.00003
NM_030632.3(ASXL3):c.4054A>G (p.Asn1352Asp) rs765815936 0.00003
NM_030665.4(RAI1):c.817C>T (p.Arg273Cys) rs758637644 0.00003
NM_152564.5(VPS13B):c.1888G>A (p.Ala630Thr) rs768721417 0.00003
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val) rs578203757 0.00003
NM_170606.3(KMT2C):c.6604C>A (p.Pro2202Thr) rs760297553 0.00003
NM_170606.3(KMT2C):c.8369T>C (p.Val2790Ala) rs771525847 0.00003
NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys) rs151310492 0.00002
NM_000381.4(MID1):c.1298C>T (p.Ser433Leu) rs780880323 0.00002
NM_001080517.3(SETD5):c.1213C>T (p.His405Tyr) rs758782896 0.00002
NM_001080517.3(SETD5):c.2855C>T (p.Pro952Leu) rs1475256332 0.00002
NM_001197104.2(KMT2A):c.2405C>G (p.Ser802Cys) rs782623689 0.00002
NM_001197104.2(KMT2A):c.9379C>T (p.Pro3127Ser) rs1461830365 0.00002
NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs) rs752788954 0.00002
NM_001330288.2(SMARCC2):c.3592G>A (p.Ala1198Thr) rs772189962 0.00002
NM_001365999.1(SZT2):c.9941A>G (p.Lys3314Arg) rs758380489 0.00002
NM_001374353.1(GLI2):c.1906-4G>A rs373446304 0.00002
NM_003076.5(SMARCD1):c.566C>G (p.Thr189Ser) rs762741274 0.00002
NM_003108.4(SOX11):c.538G>A (p.Ala180Thr) rs1297634063 0.00002
NM_003108.4(SOX11):c.701A>G (p.Glu234Gly) rs751660162 0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) rs370689343 0.00002
NM_005360.5(MAF):c.743C>A (p.Pro248Gln) rs764041224 0.00002
NM_005862.3(STAG1):c.395-8T>C rs746224826 0.00002
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) rs1295137307 0.00002
NM_006015.6(ARID1A):c.4388G>A (p.Arg1463His) rs752827461 0.00002
NM_006662.3(SRCAP):c.7744C>G (p.Pro2582Ala) rs1226947726 0.00002
NM_013275.6(ANKRD11):c.2860G>A (p.Ala954Thr) rs745768322 0.00002
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln) rs372896387 0.00002
NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val) rs368975225 0.00002
NM_030665.4(RAI1):c.458C>T (p.Pro153Leu) rs1468262694 0.00002
NM_030665.4(RAI1):c.5225G>T (p.Gly1742Val) rs558768145 0.00002
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu) rs763353781 0.00002
NM_170606.3(KMT2C):c.10564A>G (p.Ile3522Val) rs571653303 0.00002
NM_170606.3(KMT2C):c.6896A>G (p.Tyr2299Cys) rs587778494 0.00002
NM_170606.3(KMT2C):c.8471C>T (p.Thr2824Met) rs780982767 0.00002
NM_170606.3(KMT2C):c.9973A>T (p.Ser3325Cys) rs778808532 0.00002
NM_000264.5(PTCH1):c.2560+6A>G rs1414242958 0.00001
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser) rs548852837 0.00001
NM_001080517.3(SETD5):c.1592G>A (p.Arg531Gln) rs1257894154 0.00001
NM_001080517.3(SETD5):c.3362G>A (p.Arg1121Gln) rs753829449 0.00001
NM_001080517.3(SETD5):c.4103C>T (p.Thr1368Ile) rs781208584 0.00001
NM_001083962.2(TCF4):c.*10A>G rs1599336148 0.00001
NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser) rs761104318 0.00001
NM_001145358.2(SIN3A):c.3614G>A (p.Arg1205His) rs747873220 0.00001
NM_001197104.2(KMT2A):c.2929G>A (p.Gly977Ser) rs782439084 0.00001
NM_001330288.2(SMARCC2):c.3098C>A (p.Ala1033Asp) rs776778840 0.00001
NM_001365999.1(SZT2):c.4034C>A (p.Ala1345Glu) rs1026710468 0.00001
NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile) rs745970630 0.00001
NM_001365999.1(SZT2):c.9892C>T (p.Arg3298Cys) rs764177776 0.00001
NM_001374353.1(GLI2):c.1183-54C>T rs1682377263 0.00001
NM_001374353.1(GLI2):c.4466A>G (p.Glu1489Gly) rs754008467 0.00001
NM_001374828.1(ARID1B):c.5602G>A (p.Glu1868Lys) rs528801298 0.00001
NM_001375380.1(EBF3):c.1351A>G (p.Thr451Ala) rs1850109343 0.00001
NM_001379403.1(WDR26):c.1916G>A (p.Arg639Gln) rs760399308 0.00001
NM_001394372.1(BICRA):c.2404C>T (p.Arg802Cys) rs1327727725 0.00001
NM_001394372.1(BICRA):c.4565C>T (p.Ser1522Leu) rs1186261410 0.00001
NM_001429.4(EP300):c.3884C>G (p.Ser1295Cys) rs772897576 0.00001
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met) rs757412819 0.00001
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu) rs587778683 0.00001
NM_003073.5(SMARCB1):c.1118+6C>G rs200675113 0.00001
NM_003108.4(SOX11):c.727C>G (p.Pro243Ala) rs771639613 0.00001
NM_003244.4(TGIF1):c.16+1829G>A rs764152878 0.00001
NM_003482.4(KMT2D):c.12605A>C (p.Gln4202Pro) rs1276517318 0.00001
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe) rs750774484 0.00001
NM_003482.4(KMT2D):c.13346T>A (p.Leu4449His) rs757710580 0.00001
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe) rs771209224 0.00001
NM_003482.4(KMT2D):c.15707A>G (p.Asn5236Ser) rs1458393564 0.00001
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His) rs745599611 0.00001
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser) rs976882824 0.00001
NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His) rs1266718915 0.00001
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn) rs779260688 0.00001
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg) rs587778458 0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe) rs758685548 0.00001
NM_003922.4(HERC1):c.11078C>T (p.Thr3693Ile) rs755353533 0.00001
NM_004187.5(KDM5C):c.4523C>T (p.Pro1508Leu) rs1556832305 0.00001
NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met) rs2050571775 0.00001
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys) rs773159964 0.00001
NM_004958.4(MTOR):c.4597A>G (p.Thr1533Ala) rs1250124959 0.00001
NM_005445.4(SMC3):c.1580A>G (p.His527Arg) rs756254563 0.00001
NM_006245.4(PPP2R5D):c.1303A>G (p.Ile435Val) rs755300874 0.00001
NM_006245.4(PPP2R5D):c.1609G>A (p.Glu537Lys) rs1410172198 0.00001
NM_006245.4(PPP2R5D):c.394G>A (p.Val132Met) rs1437337804 0.00001
NM_006268.5(DPF2):c.900C>T (p.Arg300=) rs775695232 0.00001
NM_006280.3(SSR4):c.194C>T (p.Ala65Val) rs781822476 0.00001
NM_006662.3(SRCAP):c.5282G>C (p.Gly1761Ala) rs767130314 0.00001
NM_007118.4(TRIO):c.53C>G (p.Ala18Gly) rs1429556466 0.00001
NM_007118.4(TRIO):c.7250G>A (p.Ser2417Asn) rs927883781 0.00001
NM_007118.4(TRIO):c.8686C>A (p.Leu2896Met) rs1422150009 0.00001
NM_007363.5(NONO):c.107C>T (p.Pro36Leu) rs750695677 0.00001
NM_013275.6(ANKRD11):c.1286C>T (p.Ser429Leu) rs370109948 0.00001
NM_013275.6(ANKRD11):c.4217A>T (p.Tyr1406Phe) rs943784682 0.00001
NM_013275.6(ANKRD11):c.4471G>A (p.Glu1491Lys) rs1296165234 0.00001
NM_013275.6(ANKRD11):c.6226C>T (p.Pro2076Ser) rs1314385190 0.00001
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210 0.00001
NM_014423.4(AFF4):c.1589G>T (p.Gly530Val) rs1411633307 0.00001
NM_014423.4(AFF4):c.2015A>G (p.Asn672Ser) rs959176441 0.00001
NM_015100.4(POGZ):c.163A>G (p.Ile55Val) rs768095572 0.00001
NM_015100.4(POGZ):c.2275G>A (p.Glu759Lys) rs749648996 0.00001
NM_015100.4(POGZ):c.3848A>G (p.Gln1283Arg) rs765820329 0.00001
NM_015330.6(SPECC1L):c.2486G>A (p.Arg829Lys) rs2041009697 0.00001
NM_015335.5(MED13L):c.1609A>G (p.Ser537Gly) rs1332032276 0.00001
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg) rs781324695 0.00001
NM_015335.5(MED13L):c.5294A>G (p.Gln1765Arg) rs369933421 0.00001
NM_015570.4(AUTS2):c.142C>T (p.Leu48Phe) rs1475544687 0.00001
NM_015570.4(AUTS2):c.1673C>T (p.Thr558Met) rs552275264 0.00001
NM_015570.4(AUTS2):c.1852G>A (p.Ala618Thr) rs1203289728 0.00001
NM_017934.7(PHIP):c.842G>A (p.Gly281Asp) rs372699478 0.00001
NM_018026.4(PACS1):c.1992C>T (p.Leu664=) rs780838334 0.00001
NM_018026.4(PACS1):c.65G>A (p.Gly22Glu) rs1857288713 0.00001
NM_020699.4(GATAD2B):c.1661C>G (p.Ala554Gly) rs749141299 0.00001
NM_022552.5(DNMT3A):c.113G>A (p.Arg38His) rs369618387 0.00001
NM_024665.7(TBL1XR1):c.444G>A (p.Met148Ile) rs1339329131 0.00001
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) rs1064796750 0.00001
NM_030632.3(ASXL3):c.1898A>T (p.Gln633Leu) rs373530168 0.00001
NM_030632.3(ASXL3):c.4439C>T (p.Thr1480Met) rs747561057 0.00001
NM_030632.3(ASXL3):c.4465G>C (p.Val1489Leu) rs576992025 0.00001
NM_030665.4(RAI1):c.226G>A (p.Asp76Asn) rs936181213 0.00001
NM_030665.4(RAI1):c.4114G>A (p.Gly1372Arg) rs149839441 0.00001
NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser) rs794727522 0.00001
NM_030665.4(RAI1):c.514C>T (p.His172Tyr) rs143161740 0.00001
NM_052867.4(NALCN):c.3587A>C (p.Asn1196Thr) rs781040583 0.00001
NM_052867.4(NALCN):c.4892G>A (p.Ser1631Asn) rs920545999 0.00001
NM_052867.4(NALCN):c.5138G>A (p.Gly1713Asp) rs2031085413 0.00001
NM_078480.3(PUF60):c.239A>G (p.Lys80Arg) rs1411433335 0.00001
NM_133433.4(NIPBL):c.-79-11559C>T rs1436464402 0.00001
NM_138927.4(SON):c.4179G>T (p.Glu1393Asp) rs769227177 0.00001
NM_138927.4(SON):c.961A>C (p.Ser321Arg) rs752432317 0.00001
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln) rs913075497 0.00001
NM_152564.5(VPS13B):c.11205C>G (p.Ile3735Met) rs1359351082 0.00001
NM_152564.5(VPS13B):c.2180A>G (p.His727Arg) rs1436936380 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00001
NM_170606.3(KMT2C):c.10207C>T (p.Arg3403Cys) rs201762858 0.00001
NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe) rs762380795 0.00001
NM_170606.3(KMT2C):c.13354C>A (p.Leu4452Ile) rs1259070282 0.00001
NM_170606.3(KMT2C):c.508A>G (p.Lys170Glu) rs200182945 0.00001
NM_170606.3(KMT2C):c.5512C>T (p.Pro1838Ser) rs776192339 0.00001
NM_170606.3(KMT2C):c.7841G>T (p.Gly2614Val) rs767634921 0.00001
NM_170606.3(KMT2C):c.9989C>G (p.Pro3330Arg) rs545625106 0.00001
NM_183381.3(RNF13):c.1045A>G (p.Thr349Ala) rs972002974 0.00001
NM_183381.3(RNF13):c.613A>G (p.Lys205Glu) rs771241791 0.00001
NC_000007.14:g.152175569_152524553dup
NC_000022.11:g.23774226_23859697dup
NM_000264.5(PTCH1):c.2561-3T>C rs2136690024
NM_000381.4(MID1):c.1679A>G (p.Lys560Arg) rs1057520313
NM_000381.4(MID1):c.1913_1936inv (p.Cys638_Lys646delinsLeuPheHisThrValLysValGlyGln)
NM_001031689.3(PLAA):c.481C>T (p.Pro161Ser) rs778429815
NM_001079872.2(CUL4B):c.1651T>A (p.Ser551Thr) rs2147328768
NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=)
NM_001080517.3(SETD5):c.1711G>T (p.Val571Phe) rs768631076
NM_001080517.3(SETD5):c.3011C>T (p.Pro1004Leu) rs1335595318
NM_001080517.3(SETD5):c.3341G>T (p.Gly1114Val) rs201189533
NM_001080517.3(SETD5):c.719G>A (p.Ser240Asn) rs756127804
NM_001081550.2(THOC2):c.4519+3A>G rs2046785257
NM_001083603.3(PTCH1):c.4del (p.Glu2fs) rs752765582
NM_001083962.2(TCF4):c.549+23042C>T rs2147664454
NM_001101.5(ACTB):c.802+8G>C rs2128241257
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001145358.2(SIN3A):c.1051C>T (p.Pro351Ser) rs2073605317
NM_001145358.2(SIN3A):c.1373A>G (p.His458Arg) rs768415150
NM_001145358.2(SIN3A):c.212C>T (p.Ser71Phe) rs2073861256
NM_001145358.2(SIN3A):c.2485G>C (p.Gly829Arg) rs2073227641
NM_001145358.2(SIN3A):c.3346C>T (p.Arg1116Cys) rs760200525
NM_001145358.2(SIN3A):c.3591G>A (p.Gln1197=) rs2141368447
NM_001197104.2(KMT2A):c.10549G>A (p.Gly3517Ser) rs2134413643
NM_001197104.2(KMT2A):c.130C>A (p.Pro44Thr) rs1437526128
NM_001197104.2(KMT2A):c.226G>T (p.Gly76Trp) rs1949190966
NM_001197104.2(KMT2A):c.2797C>T (p.Arg933Trp) rs782407414
NM_001197104.2(KMT2A):c.2986T>C (p.Ser996Pro) rs1949992868
NM_001197104.2(KMT2A):c.4433G>A (p.Arg1478His) rs1555041629
NM_001197104.2(KMT2A):c.6518C>T (p.Pro2173Leu) rs2134384180
NM_001270.4(CHD1):c.3337G>A (p.Gly1113Arg) rs1749765020
NM_001270.4(CHD1):c.3998A>G (p.Lys1333Arg) rs1749202438
NM_001270.4(CHD1):c.4850C>G (p.Ser1617Ter) rs2112436440
NM_001270.4(CHD1):c.4976G>C (p.Arg1659Thr) rs2112435759
NM_001270.4(CHD1):c.735_738delinsGGAT (p.Asp245_Glu246delinsGluAsp) rs2112522658
NM_001282531.3(ADNP):c.3045_3047del (p.Lys1016del) rs761350619
NM_001291415.2(KDM6A):c.1613A>G (p.Asn538Ser) rs2147985031
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala) rs760601613
NM_001330288.2(SMARCC2):c.111+2T>C rs892217209
NM_001330288.2(SMARCC2):c.1142-1G>C rs1875550324
NM_001330288.2(SMARCC2):c.158T>C (p.Val53Ala) rs1877434002
NM_001330288.2(SMARCC2):c.3058G>C (p.Ala1020Pro) rs762674487
NM_001330288.2(SMARCC2):c.3092G>A (p.Ser1031Asn) rs1872594253
NM_001347721.2(DYRK1A):c.962C>T (p.Pro321Leu) rs2053148979
NM_001360.3(DHCR7):c.626+1013G>A
NM_001365999.1(SZT2):c.*1719del rs776828656
NM_001365999.1(SZT2):c.3784C>T (p.Pro1262Ser) rs2153933426
NM_001365999.1(SZT2):c.9799C>T (p.Arg3267Trp) rs538720577
NM_001367561.1(DOCK7):c.389+2061A>G rs2149688351
NM_001371986.1(UNC80):c.9934C>A (p.Leu3312Met) rs2125036339
NM_001374353.1(GLI2):c.198G>A (p.Met66Ile) rs2104869716
NM_001374353.1(GLI2):c.3810A>C (p.Glu1270Asp) rs2105094470
NM_001374828.1(ARID1B):c.1051TCCGCC[1] (p.351SA[1]) rs1562376911
NM_001374828.1(ARID1B):c.1132T>G (p.Cys378Gly) rs2114986662
NM_001374828.1(ARID1B):c.1942C>T (p.Arg648Trp) rs143370913
NM_001374828.1(ARID1B):c.2069C>T (p.Pro690Leu) rs779239519
NM_001374828.1(ARID1B):c.2899G>A (p.Gly967Arg) rs1554226059
NM_001374828.1(ARID1B):c.3179T>A (p.Met1060Lys) rs2128290781
NM_001374828.1(ARID1B):c.4573G>A (p.Glu1525Lys) rs1554235555
NM_001374828.1(ARID1B):c.7004G>T (p.Arg2335Leu) rs146468586
NM_001379403.1(WDR26):c.1355C>T (p.Thr452Met) rs532004418
NM_001394372.1(BICRA):c.2370C>G (p.His790Gln) rs2123605781
NM_001429.4(EP300):c.2960C>T (p.Pro987Leu) rs2145740050
NM_001429.4(EP300):c.301G>A (p.Gly101Ser) rs762557708
NM_001429.4(EP300):c.3893T>G (p.Leu1298Arg) rs2145762737
NM_001429.4(EP300):c.7225A>C (p.Ser2409Arg) rs748325077
NM_002397.5(MEF2C):c.-142-25787T>G rs2153377579
NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr) rs1440750558
NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg) rs2100925789
NM_003036.4(SKI):c.623C>T (p.Ala208Val) rs1276237576
NM_003070.5(SMARCA2):c.3763-1230G>C rs1453505894
NM_003070.5(SMARCA2):c.4696G>C (p.Val1566Leu) rs1827870545
NM_003072.5(SMARCA4):c.3383-36C>T rs2146595699
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.4732G>C (p.Glu1578Gln) rs1555795999
NM_003073.5(SMARCB1):c.1118+4C>G rs374197835
NM_003079.5(SMARCE1):c.370-10T>C rs763801620
NM_003107.3(SOX4):c.149G>C (p.Ser50Thr) rs749184422
NM_003107.3(SOX4):c.322_323insA (p.Phe108fs) rs1763101563
NM_003107.3(SOX4):c.499_500insCGG (p.His166_Gly167insAla) rs542004893
NM_003108.4(SOX11):c.1153G>A (p.Ala385Thr) rs2103277224
NM_003403.5(YY1):c.202G>A (p.Ala68Thr) rs1246486173
NM_003403.5(YY1):c.608A>G (p.Lys203Arg) rs1890700748
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val) rs1943073751
NM_003482.4(KMT2D):c.12673C>G (p.Leu4225Val) rs949941431
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala) rs772169265
NM_003482.4(KMT2D):c.3734C>G (p.Ser1245Cys) rs2120641688
NM_003482.4(KMT2D):c.3898A>G (p.Ile1300Val) rs2120638267
NM_003482.4(KMT2D):c.4163G>A (p.Arg1388Gln) rs202217665
NM_003482.4(KMT2D):c.7484C>T (p.Pro2495Leu) rs2120525921
NM_003482.4(KMT2D):c.7777C>A (p.Pro2593Thr) rs2120520690
NM_003482.4(KMT2D):c.8102G>A (p.Arg2701Gln) rs1943386777
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser) rs1291730464
NM_003620.4(PPM1D):c.267C>G (p.Ser89Arg) rs900654745
NM_003801.4(GPAA1):c.1051G>C (p.Glu351Gln) rs2129945017
NM_004187.5(KDM5C):c.2674G>A (p.Ala892Thr) rs2146839898
NM_004187.5(KDM5C):c.3758C>T (p.Pro1253Leu) rs2146821316
NM_004187.5(KDM5C):c.865A>G (p.Lys289Glu) rs782081983
NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp) rs2051340680
NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly) rs2145532453
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_004380.3(CREBBP):c.1941+8G>A rs761673254
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn) rs2052155279
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup) rs2151307787
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser) rs2151303211
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu) rs781438241
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu) rs1239213391
NM_004456.5(EZH2):c.1579C>A (p.Pro527Thr) rs2129470135
NM_004958.4(MTOR):c.4360C>T (p.His1454Tyr) rs2100568346
NM_004958.4(MTOR):c.6210dup (p.Asn2071Ter) rs2100406692
NM_004958.4(MTOR):c.6962C>G (p.Thr2321Ser) rs1642202172
NM_004985.5(KRAS):c.58A>G (p.Thr20Ala) rs2135806003
NM_005120.3(MED12):c.4413G>A (p.Lys1471=) rs2092320033
NM_005343.4(HRAS):c.-54+3G>A
NM_005360.5(MAF):c.487G>C (p.Val163Leu) rs1913845255
NM_005360.5(MAF):c.860T>G (p.Ile287Ser)
NM_005445.4(SMC3):c.2783G>A (p.Arg928Gln) rs2134752688
NM_005862.3(STAG1):c.1056A>T (p.Lys352Asn) rs2107814357
NM_005862.3(STAG1):c.2196+4167T>G rs2107715024
NM_005862.3(STAG1):c.298-8776C>T rs1190662692
NM_005862.3(STAG1):c.676+5379A>G rs2107894849
NM_006015.6(ARID1A):c.1126C>T (p.Arg376Trp) rs1018092020
NM_006015.6(ARID1A):c.1517C>G (p.Ser506Cys) rs2124788689
NM_006015.6(ARID1A):c.2194C>A (p.Gln732Lys) rs1292150071
NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu) rs1285265984
NM_006015.6(ARID1A):c.269G>C (p.Ser90Thr) rs2124741075
NM_006015.6(ARID1A):c.2852G>A (p.Gly951Asp) rs2081039231
NM_006015.6(ARID1A):c.5702G>A (p.Gly1901Glu) rs2124141958
NM_006015.6(ARID1A):c.764C>T (p.Ser255Phe) rs1240590332
NM_006265.3(RAD21):c.1143G>C (p.Trp381Cys) rs2130462808
NM_006565.4(CTCF):c.203C>G (p.Pro68Arg) rs752391941
NM_006565.4(CTCF):c.529A>G (p.Thr177Ala) rs1430339540
NM_006662.3(SRCAP):c.3179T>G (p.Leu1060Arg) rs2053005047
NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu) rs2150932891
NM_006766.5(KAT6A):c.2696A>G (p.Tyr899Cys) rs745933378
NM_006766.5(KAT6A):c.3775A>G (p.Asn1259Asp) rs1240578716
NM_007118.4(TRIO):c.2046+6G>T rs1741451308
NM_007118.4(TRIO):c.4978C>A (p.Leu1660Met) rs2152389359
NM_007118.4(TRIO):c.7001G>C (p.Ser2334Thr) rs375274497
NM_007118.4(TRIO):c.8019+6T>G rs2126677662
NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys) rs2132074046
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015
NM_012330.4(KAT6B):c.622-53842A>G rs2132837198
NM_013275.6(ANKRD11):c.-145+15205C>T rs2057211213
NM_013275.6(ANKRD11):c.-145+4A>T rs895163510
NM_013275.6(ANKRD11):c.-60+48691C>T
NM_013275.6(ANKRD11):c.1056C>G (p.Asp352Glu) rs149211555
NM_013275.6(ANKRD11):c.1357A>G (p.Lys453Glu) rs2151764903
NM_013275.6(ANKRD11):c.227-269A>G rs2151799587
NM_013275.6(ANKRD11):c.3653A>C (p.Lys1218Thr) rs2151753979
NM_013275.6(ANKRD11):c.3725C>T (p.Ala1242Val)
NM_013275.6(ANKRD11):c.4265T>G (p.Leu1422Trp) rs2151750772
NM_013275.6(ANKRD11):c.4928C>A (p.Pro1643Gln) rs147690079
NM_013275.6(ANKRD11):c.5681C>G (p.Pro1894Arg) rs760261187
NM_013275.6(ANKRD11):c.6043T>C (p.Tyr2015His) rs1395480845
NM_013275.6(ANKRD11):c.7114C>T (p.Arg2372Cys) rs1192971319
NM_014141.6(CNTNAP2):c.2384-4637del rs2116601181
NM_014141.6(CNTNAP2):c.3076G>A (p.Ala1026Thr) rs796052382
NM_014423.4(AFF4):c.1520_1521delinsAT (p.Arg507His)
NM_014423.4(AFF4):c.2144T>C (p.Ile715Thr) rs755145233
NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)
NM_014423.4(AFF4):c.437G>T (p.Ser146Ile) rs758814088
NM_014795.4(ZEB2):c.3574G>C (p.Asp1192His) rs1703125939
NM_014795.4(ZEB2):c.916G>A (p.Gly306Ser) rs113893117
NM_015100.4(POGZ):c.2197G>A (p.Val733Ile) rs541476793
NM_015100.4(POGZ):c.2576_2599del (p.Gly859_His866del) rs1653635853
NM_015330.6(SPECC1L):c.2067_2071delinsTTGAAC (p.Ile690_Phe691delinsTer) rs2040777042
NM_015335.5(MED13L):c.3032A>G (p.Asp1011Gly) rs1878087235
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr) rs1363042572
NM_015335.5(MED13L):c.4618G>A (p.Ala1540Thr) rs2137275405
NM_015335.5(MED13L):c.4745C>A (p.Ser1582Tyr) rs748040838
NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val) rs1272594944
NM_015338.6(ASXL1):c.2029C>T (p.Pro677Ser) rs2145361163
NM_015338.6(ASXL1):c.3915T>G (p.Phe1305Leu) rs2145389443
NM_015338.6(ASXL1):c.4624_4626TAA[1] (p.Ter1542_Ter(1542_?)(?)) rs2145398075
NM_015443.4(KANSL1):c.1075A>G (p.Ser359Gly) rs1309097254
NM_015443.4(KANSL1):c.2420G>C (p.Ser807Thr) rs1317184946
NM_015570.4(AUTS2):c.1132G>C (p.Val378Leu) rs771546186
NM_015570.4(AUTS2):c.1712T>C (p.Val571Ala) rs2129557711
NM_015570.4(AUTS2):c.3008C>T (p.Ser1003Leu) rs543645962
NM_015570.4(AUTS2):c.310-100635A>G rs1451461572
NM_015570.4(AUTS2):c.310-148390G>C rs1787711433
NM_015570.4(AUTS2):c.624+2202A>G rs2129573053
NM_015570.4(AUTS2):c.701C>T (p.Ala234Val) rs1328605193
NM_016284.5(CNOT1):c.-175+5G>A rs1015293911
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp) rs1841460217
NM_016628.5(WAC):c.275-22319G>T rs2132485043
NM_017934.7(PHIP):c.1525-8T>C
NM_017934.7(PHIP):c.2201+2092G>A rs1769538513
NM_017934.7(PHIP):c.2748G>C (p.Lys916Asn)
NM_017934.7(PHIP):c.3526A>T (p.Met1176Leu)
NM_018026.4(PACS1):c.104AGC[9] (p.Gln38_Gln40dup) rs749515977
NM_018026.4(PACS1):c.2089G>C (p.Glu697Gln)
NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn) rs751638632
NM_018486.3(HDAC8):c.738-1619G>A rs2148050178
NM_019023.5(PRMT7):c.-218-3C>G
NM_019023.5(PRMT7):c.1651-8G>A
NM_019023.5(PRMT7):c.1652G>A (p.Arg551His)
NM_019023.5(PRMT7):c.2029G>A (p.Asp677Asn)
NM_019023.5(PRMT7):c.254C>A (p.Ala85Glu)
NM_019023.5(PRMT7):c.542A>G (p.Tyr181Cys)
NM_020699.4(GATAD2B):c.1621G>T (p.Val541Leu) rs1324892287
NM_022552.5(DNMT3A):c.2062C>T (p.Arg688Cys) rs1484795800
NM_024665.7(TBL1XR1):c.40A>G (p.Arg14Gly) rs1718965342
NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu) rs869312936
NM_024757.5(EHMT1):c.216C>A (p.His72Gln) rs374930132
NM_030632.3(ASXL3):c.1381A>G (p.Ser461Gly)
NM_030632.3(ASXL3):c.2992G>A (p.Glu998Lys) rs2145417570
NM_030632.3(ASXL3):c.6335T>A (p.Leu2112Ter) rs2145435948
NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp) rs2143002559
NM_030665.4(RAI1):c.3649C>T (p.Arg1217Trp) rs898986244
NM_031263.4(HNRNPK):c.1183C>T (p.Pro395Ser) rs771289643
NM_031263.4(HNRNPK):c.1359C>G (p.Asn453Lys) rs2133014344
NM_052867.4(NALCN):c.3209A>G (p.Asn1070Ser) rs1277065548
NM_078480.3(PUF60):c.668G>A (p.Arg223Gln) rs1317244394
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr) rs546539357
NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro) rs1178033980
NM_133433.4(NIPBL):c.5115T>C (p.His1705=) rs2149696602
NM_138425.4(C12orf57):c.155_166del (p.Gln52_Leu55del) rs782305725
NM_138927.4(SON):c.1096A>G (p.Lys366Glu) rs772141202
NM_152564.5(VPS13B):c.-30+5G>A
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu) rs770999005
NM_152564.5(VPS13B):c.1595G>T (p.Arg532Leu)
NM_152564.5(VPS13B):c.1657A>G (p.Thr553Ala) rs2132580942
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.2258A>G (p.Tyr753Cys)
NM_152564.5(VPS13B):c.2522A>G (p.Lys841Arg) rs1376390404
NM_152564.5(VPS13B):c.5220+20875C>A
NM_152564.5(VPS13B):c.5221-24871G>T rs944094510
NM_152564.5(VPS13B):c.5520G>T (p.Lys1840Asn) rs2133931905
NM_152564.5(VPS13B):c.6529C>T (p.Arg2177Cys) rs756143690
NM_152564.5(VPS13B):c.7050+2243A>G
NM_152564.5(VPS13B):c.7334G>C (p.Cys2445Ser)
NM_152564.5(VPS13B):c.7941+6T>C
NM_152564.5(VPS13B):c.8254G>C (p.Glu2752Gln)
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg) rs781004616
NM_170606.3(KMT2C):c.13513A>G (p.Met4505Val) rs1338474545
NM_170606.3(KMT2C):c.14329C>T (p.Arg4777Trp)
NM_170606.3(KMT2C):c.1665G>T (p.Met555Ile) rs552470432
NM_170606.3(KMT2C):c.1876G>A (p.Glu626Lys) rs2095513181
NM_170606.3(KMT2C):c.2074G>A (p.Val692Ile) rs2095510300
NM_170606.3(KMT2C):c.2388G>C (p.Met796Ile) rs2129163898
NM_170606.3(KMT2C):c.4766T>C (p.Ile1589Thr) rs985359158
NM_170606.3(KMT2C):c.4852T>C (p.Ser1618Pro) rs2129124726
NM_170606.3(KMT2C):c.7775A>G (p.Asn2592Ser) rs1294128108
NM_178012.5(TUBB2B):c.1223T>C (p.Phe408Ser) rs2113818887
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.