ClinVar Miner

List of variants studied for isolated congenital growth hormone deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 520
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_000061.3(BTK):c.954T>C (p.Ser318=) rs5991926 0.01964
NM_000061.3(BTK):c.531T>C (p.Pro177=) rs148358153 0.00738
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_000061.3(BTK):c.1698G>A (p.Pro566=) rs3208812 0.00044
NM_000061.3(BTK):c.707G>A (p.Arg236Gln) rs147036606 0.00036
NM_000061.3(BTK):c.1701A>G (p.Glu567=) rs146681416 0.00032
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) rs144079566 0.00029
NM_000061.3(BTK):c.1909-9T>C rs782702231 0.00029
NM_000061.3(BTK):c.625G>T (p.Ala209Ser) rs138352992 0.00028
NM_000061.3(BTK):c.1140A>G (p.Gln380=) rs782184877 0.00018
NM_000061.3(BTK):c.1239T>C (p.Phe413=) rs150990075 0.00014
NM_000061.3(BTK):c.1566+18T>C rs367698178 0.00012
NM_000061.3(BTK):c.390C>T (p.Asn130=) rs150917517 0.00012
NM_000061.3(BTK):c.1104A>G (p.Gly368=) rs781940603 0.00011
NM_000061.3(BTK):c.895-10G>A rs370812397 0.00010
NM_000061.3(BTK):c.1977C>T (p.Ser659=) rs782047787 0.00007
NM_000061.3(BTK):c.1590C>T (p.Asn530=) rs375450527 0.00006
NM_000061.3(BTK):c.720A>C (p.Glu240Asp) rs141590686 0.00006
NM_000061.3(BTK):c.1103-11C>G rs782217532 0.00005
NM_000061.3(BTK):c.1750+10T>C rs374131821 0.00005
NM_000061.3(BTK):c.1276G>A (p.Asp426Asn) rs782813365 0.00004
NM_000061.3(BTK):c.573G>A (p.Thr191=) rs146707427 0.00004
NM_000061.3(BTK):c.894+3A>G rs781949555 0.00004
NM_000061.3(BTK):c.1358C>T (p.Ser453Phe) rs782457670 0.00003
NM_000061.3(BTK):c.1350-17C>A rs563329397 0.00002
NM_000061.3(BTK):c.363G>A (p.Arg121=) rs781811193 0.00002
NM_000061.3(BTK):c.482A>C (p.Asn161Thr) rs371085740 0.00002
NM_000061.3(BTK):c.520+13A>G rs201408619 0.00002
NM_000061.3(BTK):c.63A>G (p.Ser21=) rs781799902 0.00002
NM_000061.3(BTK):c.100G>A (p.Val34Met) rs141488935 0.00001
NM_000061.3(BTK):c.1155T>C (p.Pro385=) rs782654519 0.00001
NM_000061.3(BTK):c.1176C>T (p.Tyr392=) rs782429199 0.00001
NM_000061.3(BTK):c.1328T>C (p.Ile443Thr) rs782133950 0.00001
NM_000061.3(BTK):c.1392C>T (p.Cys464=) rs373846453 0.00001
NM_000061.3(BTK):c.142-8C>T rs782365356 0.00001
NM_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
NM_000061.3(BTK):c.1482G>A (p.Gln494=) rs1555977817 0.00001
NM_000061.3(BTK):c.1697C>T (p.Pro566Leu) rs1057521814 0.00001
NM_000061.3(BTK):c.1737C>T (p.Asp579=) rs377324584 0.00001
NM_000061.3(BTK):c.1791A>G (p.Pro597=) rs1340458277 0.00001
NM_000061.3(BTK):c.1800A>G (p.Arg600=) rs1926357397 0.00001
NM_000061.3(BTK):c.1831G>T (p.Ala611Ser) rs1555977331 0.00001
NM_000061.3(BTK):c.189T>C (p.Cys63=) rs782683829 0.00001
NM_000061.3(BTK):c.240+7A>C rs782299012 0.00001
NM_000061.3(BTK):c.303C>T (p.Pro101=) rs1383556662 0.00001
NM_000061.3(BTK):c.309+17C>T rs1555980312 0.00001
NM_000061.3(BTK):c.310-7G>A rs781841095 0.00001
NM_000061.3(BTK):c.367C>T (p.Arg123Trp) rs1926975244 0.00001
NM_000061.3(BTK):c.391+19A>T rs1555980038 0.00001
NM_000061.3(BTK):c.520+16G>A rs782819971 0.00001
NM_000061.3(BTK):c.577G>C (p.Glu193Gln) rs1555978783 0.00001
NM_000061.3(BTK):c.580G>A (p.Glu194Lys) rs1555978779 0.00001
NM_000061.3(BTK):c.609G>A (p.Pro203=) rs781964043 0.00001
NM_000061.3(BTK):c.6C>T (p.Ala2=) rs372818780 0.00001
NM_000061.3(BTK):c.736G>C (p.Glu246Gln) rs1468544899 0.00001
NM_000061.3(BTK):c.7G>A (p.Ala3Thr) rs368549990 0.00001
NM_000061.3(BTK):c.852A>G (p.Lys284=) rs1057515724 0.00001
NM_000061.3(BTK):c.894+15A>C rs377652560 0.00001
NM_000061.3(BTK):c.974+7G>A rs1555978188 0.00001
NC_000023.10:g.(?_100603501)_(100608996_?)del
NC_000023.10:g.(?_100604853)_(100609705_?)del
NC_000023.10:g.(?_100604873)_(100604964_?)del
NC_000023.10:g.(?_100604873)_(100630272_?)dup
NC_000023.10:g.(?_100604873)_(100667593_?)del
NC_000023.10:g.(?_100608162)_(100615763_?)del
NC_000023.10:g.(?_100611020)_(100615763_?)del
NC_000023.10:g.(?_100614261)_(100615763_?)del
NC_000023.10:g.(?_100617141)_(100662891_?)dup
NC_000023.10:g.(?_100624966)_(100641212_?)del
NC_000023.10:g.(?_100629415)_(100630272_?)del
NC_000023.10:g.(?_99551275)_(101097764_?)dup
NC_000023.11:g.(?_101353174)_(101358716_?)dup
NC_000023.11:g.(?_101362153)_(101362709_?)dup
NC_000023.11:g.101353342_101353352del
NC_000023.11:g.101353352dup
NC_000023.11:g.101358697del
NM_000061.3(BTK):c.-31+1G>A rs1927600989
NM_000061.3(BTK):c.-31+6T>C
NM_000061.3(BTK):c.100G>C (p.Val34Leu)
NM_000061.3(BTK):c.1011T>C (p.Cys337=)
NM_000061.3(BTK):c.1018C>T (p.Pro340Ser)
NM_000061.3(BTK):c.1039G>C (p.Ala347Pro) rs1603006298
NM_000061.3(BTK):c.1053T>C (p.Leu351=)
NM_000061.3(BTK):c.1064T>C (p.Ile355Thr) rs1057517709
NM_000061.3(BTK):c.1069G>A (p.Glu357Lys) rs1555978130
NM_000061.3(BTK):c.1076T>C (p.Ile359Thr)
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys) rs28935478
NM_000061.3(BTK):c.1083C>T (p.Tyr361=) rs1410917239
NM_000061.3(BTK):c.1085A>G (p.His362Arg) rs2147429797
NM_000061.3(BTK):c.1093A>T (p.Asn365Tyr) rs2147429790
NM_000061.3(BTK):c.1102+13G>A
NM_000061.3(BTK):c.1102+20G>A
NM_000061.3(BTK):c.1102+7A>G
NM_000061.3(BTK):c.1102G>T (p.Gly368Ter) rs2147429777
NM_000061.3(BTK):c.1103-17CT[4]
NM_000061.3(BTK):c.1103-23_1103-20del
NM_000061.3(BTK):c.1103-2A>G rs1603005659
NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter) rs128621197
NM_000061.3(BTK):c.1132T>C (p.Ser378Pro)
NM_000061.3(BTK):c.1135C>T (p.Gln379Ter)
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.3(BTK):c.1144A>G (p.Lys382Glu)
NM_000061.3(BTK):c.1171G>T (p.Gly391Ter)
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter) rs782429199
NM_000061.3(BTK):c.1177+7C>T
NM_000061.3(BTK):c.1177+8C>T
NM_000061.3(BTK):c.1178-12C>T
NM_000061.3(BTK):c.1178-17C>G
NM_000061.3(BTK):c.1178-8A>T
NM_000061.3(BTK):c.1178-9T>C
NM_000061.3(BTK):c.1197A>G (p.Pro399=)
NM_000061.3(BTK):c.119A>G (p.Tyr40Cys) rs1555980875
NM_000061.3(BTK):c.1207A>C (p.Thr403Pro)
NM_000061.3(BTK):c.1229C>T (p.Thr410Ile) rs1603005179
NM_000061.3(BTK):c.1239T>G (p.Phe413Leu)
NM_000061.3(BTK):c.1245A>T (p.Val415=) rs2147428320
NM_000061.3(BTK):c.1249A>T (p.Lys417Ter) rs1926503277
NM_000061.3(BTK):c.1262G>A (p.Trp421Ter) rs1603005139
NM_000061.3(BTK):c.1266A>G (p.Arg422=)
NM_000061.3(BTK):c.1272G>A (p.Gln424=)
NM_000061.3(BTK):c.1272G>T (p.Gln424His)
NM_000061.3(BTK):c.1275C>T (p.Tyr425=)
NM_000061.3(BTK):c.1278_1291del (p.Val427fs)
NM_000061.3(BTK):c.1279_1280delinsAA (p.Val427Lys)
NM_000061.3(BTK):c.1282G>C (p.Ala428Pro)
NM_000061.3(BTK):c.1284C>T (p.Ala428=)
NM_000061.3(BTK):c.1300_1909-813del
NM_000061.3(BTK):c.1317A>G (p.Glu439=)
NM_000061.3(BTK):c.1321G>T (p.Glu441Ter) rs1603005073
NM_000061.3(BTK):c.1349+11G>C
NM_000061.3(BTK):c.1349+18C>T
NM_000061.3(BTK):c.1349+1G>A rs2147428155
NM_000061.3(BTK):c.1349+20C>T
NM_000061.3(BTK):c.1349+2dup rs2147428153
NM_000061.3(BTK):c.1349+6T>G
NM_000061.3(BTK):c.1349+7T>G
NM_000061.3(BTK):c.1350-1G>A rs1926477495
NM_000061.3(BTK):c.1350-4G>A
NM_000061.3(BTK):c.1350-6C>T rs1926477882
NM_000061.3(BTK):c.1350-9T>C
NM_000061.3(BTK):c.1361A>C (p.His454Pro)
NM_000061.3(BTK):c.1361A>G (p.His454Arg)
NM_000061.3(BTK):c.1361A>T (p.His454Leu)
NM_000061.3(BTK):c.1365G>A (p.Glu455=)
NM_000061.3(BTK):c.1377G>A (p.Gln459=)
NM_000061.3(BTK):c.1378T>C (p.Leu460=)
NM_000061.3(BTK):c.1379T>A (p.Leu460Ter) rs2147427562
NM_000061.3(BTK):c.1386C>T (p.Gly462=)
NM_000061.3(BTK):c.1387G>A (p.Val463Ile)
NM_000061.3(BTK):c.138dup (p.Gly47fs) rs2147448137
NM_000061.3(BTK):c.1391G>T (p.Cys464Phe) rs2147427522
NM_000061.3(BTK):c.1399C>T (p.Gln467Ter) rs2147427505
NM_000061.3(BTK):c.141+12G>A
NM_000061.3(BTK):c.141+13A>G
NM_000061.3(BTK):c.141+16A>G
NM_000061.3(BTK):c.141+19A>C
NM_000061.3(BTK):c.141+1G>C
NM_000061.3(BTK):c.1416C>T (p.Ile472=)
NM_000061.3(BTK):c.1418T>A (p.Ile473Asn) rs1926475663
NM_000061.3(BTK):c.142-12T>A
NM_000061.3(BTK):c.142-12T>C
NM_000061.3(BTK):c.142-16T>A
NM_000061.3(BTK):c.142-4T>C
NM_000061.3(BTK):c.142-5del
NM_000061.3(BTK):c.1420dup (p.Thr474fs) rs2147427470
NM_000061.3(BTK):c.1431G>A (p.Met477Ile)
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) rs1057519826
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000061.3(BTK):c.1445T>C (p.Leu482Pro) rs1926474231
NM_000061.3(BTK):c.1458G>A (p.Leu486=)
NM_000061.3(BTK):c.1468C>T (p.Arg490Cys)
NM_000061.3(BTK):c.1469G>A (p.Arg490His) rs1926473502
NM_000061.3(BTK):c.1475G>C (p.Arg492Pro) rs782338603
NM_000061.3(BTK):c.1485T>C (p.Thr495=)
NM_000061.3(BTK):c.1487A>C (p.Gln496Pro) rs2147427327
NM_000061.3(BTK):c.1492C>G (p.Leu498Val) rs1555977807
NM_000061.3(BTK):c.1505G>A (p.Cys502Tyr) rs1313261352
NM_000061.3(BTK):c.150C>A (p.Gly50=)
NM_000061.3(BTK):c.1513G>T (p.Val505Phe) rs1603004514
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg) rs128621200
NM_000061.3(BTK):c.1517G>A (p.Cys506Tyr)
NM_000061.3(BTK):c.1524C>T (p.Ala508=)
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) rs1569291644
NM_000061.3(BTK):c.1535T>C (p.Leu512Pro) rs2147427255
NM_000061.3(BTK):c.1535T>G (p.Leu512Arg)
NM_000061.3(BTK):c.1536G>A (p.Leu512=)
NM_000061.3(BTK):c.1537del (p.Glu513fs)
NM_000061.3(BTK):c.1539G>A (p.Glu513=)
NM_000061.3(BTK):c.1546C>T (p.Gln516Ter) rs1603004481
NM_000061.3(BTK):c.1553T>G (p.Leu518Arg)
NM_000061.3(BTK):c.1556A>C (p.His519Pro)
NM_000061.3(BTK):c.1558C>G (p.Arg520Gly) rs128621201
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.3(BTK):c.1559G>T (p.Arg520Leu)
NM_000061.3(BTK):c.1563C>G (p.Asp521Glu) rs2147427209
NM_000061.3(BTK):c.1566+20G>A
NM_000061.3(BTK):c.1566+7C>T
NM_000061.3(BTK):c.1567-117_1604del rs2147425786
NM_000061.3(BTK):c.1567-12_1567-9del rs1569291244
NM_000061.3(BTK):c.1567-2A>C
NM_000061.3(BTK):c.1567-2A>G rs1555977598
NM_000061.3(BTK):c.1567-9G>T
NM_000061.3(BTK):c.1571C>T (p.Ala524Val)
NM_000061.3(BTK):c.1573C>G (p.Arg525Gly) rs886041149
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter) rs886041149
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.1575A>G (p.Arg525=)
NM_000061.3(BTK):c.1578C>A (p.Asn526Lys) rs1569291237
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.3(BTK):c.1591G>T (p.Asp531Tyr)
NM_000061.3(BTK):c.1602T>G (p.Val534=)
NM_000061.3(BTK):c.1606A>G (p.Lys536Glu) rs1603003195
NM_000061.3(BTK):c.1606A>T (p.Lys536Ter)
NM_000061.3(BTK):c.1610T>C (p.Val537Ala)
NM_000061.3(BTK):c.1624_1625insGCGCCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCCCCGGGCCCGAGGGCAACGAGCAGACCCCAGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAGTATCTGATTTCGGCC (p.Gly541_Leu542insArgAlaGlyGluArgArgProGlyGlySerGlyTrpArgSerGlyArgAlaProProGlyProArgAlaThrSerArgProGlnProXaaXaaXaaLysLysLysLysLysLysAsnLysValSerAspPheGly)
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro) rs128621203
NM_000061.3(BTK):c.1626G>T (p.Leu542=) rs2147425748
NM_000061.3(BTK):c.1630A>G (p.Arg544Gly)
NM_000061.3(BTK):c.1631+18A>T
NM_000061.3(BTK):c.1631+2T>C rs1926404536
NM_000061.3(BTK):c.1631+5G>C rs1926404279
NM_000061.3(BTK):c.1631+6T>G rs2147425735
NM_000061.3(BTK):c.1631G>A (p.Arg544Lys)
NM_000061.3(BTK):c.1632-11_1632-6del
NM_000061.3(BTK):c.1632-15C>T
NM_000061.3(BTK):c.1632-18G>A
NM_000061.3(BTK):c.1632-20A>C
NM_000061.3(BTK):c.1632-3C>A rs1926384033
NM_000061.3(BTK):c.1632G>T (p.Arg544Ser)
NM_000061.3(BTK):c.1633T>C (p.Tyr545His)
NM_000061.3(BTK):c.163T>C (p.Ser55Pro) rs1603019607
NM_000061.3(BTK):c.1641_1651del (p.Asp548fs) rs2147425053
NM_000061.3(BTK):c.1662A>C (p.Ser554=)
NM_000061.3(BTK):c.1664T>C (p.Val555Ala)
NM_000061.3(BTK):c.167T>C (p.Ile56Thr) rs1927146374
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.3(BTK):c.1688G>A (p.Trp563Ter) rs1555977474
NM_000061.3(BTK):c.1689G>A (p.Trp563Ter)
NM_000061.3(BTK):c.1692C>T (p.Ser564=)
NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)
NM_000061.3(BTK):c.1694dup (p.Pro566fs)
NM_000061.3(BTK):c.1696C>T (p.Pro566Ser) rs1603002421
NM_000061.3(BTK):c.1697C>G (p.Pro566Arg) rs1057521814
NM_000061.3(BTK):c.1713_1714dup (p.Ser572fs) rs1603002367
NM_000061.3(BTK):c.1720T>C (p.Phe574Leu) rs1926379592
NM_000061.3(BTK):c.1725C>A (p.Ser575Arg)
NM_000061.3(BTK):c.1730A>C (p.Lys577Thr) rs2147424863
NM_000061.3(BTK):c.1743G>A (p.Trp581Ter)
NM_000061.3(BTK):c.1743G>T (p.Trp581Cys) rs1603002341
NM_000061.3(BTK):c.1745C>T (p.Ala582Val)
NM_000061.3(BTK):c.1747T>G (p.Phe583Val) rs1926378381
NM_000061.3(BTK):c.1750+11A>G
NM_000061.3(BTK):c.1750+16T>A
NM_000061.3(BTK):c.1750+1G>A
NM_000061.3(BTK):c.1750+1G>T
NM_000061.3(BTK):c.1750+5G>A rs864321659
NM_000061.3(BTK):c.1751-16T>C
NM_000061.3(BTK):c.1751-17T>C
NM_000061.3(BTK):c.1751-18A>C
NM_000061.3(BTK):c.1751-18A>T
NM_000061.3(BTK):c.1751-1G>A
NM_000061.3(BTK):c.1751-1G>C rs1603001846
NM_000061.3(BTK):c.1751-1G>T
NM_000061.3(BTK):c.1751-2A>G
NM_000061.3(BTK):c.1751-8C>T
NM_000061.3(BTK):c.1751G>A (p.Gly584Glu) rs1926361058
NM_000061.3(BTK):c.1752G>C (p.Gly584=)
NM_000061.3(BTK):c.1759A>C (p.Met587Leu) rs1603001822
NM_000061.3(BTK):c.1761G>A (p.Met587Ile)
NM_000061.3(BTK):c.1762T>C (p.Trp588Arg)
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) rs1603001805
NM_000061.3(BTK):c.1763G>T (p.Trp588Leu) rs1603001805
NM_000061.3(BTK):c.1765G>T (p.Glu589Ter) rs1926358858
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del) rs1603019594
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1774T>C (p.Ser592Pro) rs1603001783
NM_000061.3(BTK):c.1775C>A (p.Ser592Tyr) rs1926358194
NM_000061.3(BTK):c.1778T>C (p.Leu593Pro) rs2147424197
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg) rs1555977339
NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)
NM_000061.3(BTK):c.1789C>T (p.Pro597Ser) rs868967798
NM_000061.3(BTK):c.1793A>G (p.Tyr598Cys)
NM_000061.3(BTK):c.1819G>A (p.Ala607Thr)
NM_000061.3(BTK):c.1822G>A (p.Glu608Lys)
NM_000061.3(BTK):c.1832C>A (p.Ala611Asp)
NM_000061.3(BTK):c.1833C>T (p.Ala611=)
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
NM_000061.3(BTK):c.1843C>T (p.Arg615Cys) rs1603001680
NM_000061.3(BTK):c.1844G>T (p.Arg615Leu) rs1901797830
NM_000061.3(BTK):c.1852A>C (p.Arg618=) rs1569290824
NM_000061.3(BTK):c.1864G>C (p.Ala622Pro) rs2147424035
NM_000061.3(BTK):c.1864del (p.Ala622fs)
NM_000061.3(BTK):c.1868C>T (p.Ser623Leu) rs1926354581
NM_000061.3(BTK):c.1881_1882del (p.Thr628fs)
NM_000061.3(BTK):c.1882A>T (p.Thr628Ser)
NM_000061.3(BTK):c.1884C>A (p.Thr628=)
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.188G>C (p.Cys63Ser)
NM_000061.3(BTK):c.1893C>G (p.Tyr631Ter)
NM_000061.3(BTK):c.1901G>C (p.Trp634Ser) rs1926352588
NM_000061.3(BTK):c.1908+18A>T
NM_000061.3(BTK):c.1908+1G>T rs2147423955
NM_000061.3(BTK):c.1908+2dup
NM_000061.3(BTK):c.1908+7G>T
NM_000061.3(BTK):c.1909-17T>G
NM_000061.3(BTK):c.1909-18C>T
NM_000061.3(BTK):c.1909-1G>A
NM_000061.3(BTK):c.1909-20T>C
NM_000061.3(BTK):c.1909-7G>A
NM_000061.3(BTK):c.1921C>T (p.Arg641Cys)
NM_000061.3(BTK):c.1922G>A (p.Arg641His) rs1926220192
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.1926del (p.Thr643fs)
NM_000061.3(BTK):c.1931T>C (p.Phe644Ser) rs2147419969
NM_000061.3(BTK):c.1932C>G (p.Phe644Leu) rs1926219727
NM_000061.3(BTK):c.1976_*10del (p.Ser659_Ter660delinsXaa)
NM_000061.3(BTK):c.215del (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.216T>G (p.Asn72Lys) rs1555980789
NM_000061.3(BTK):c.232C>T (p.Gln78Ter) rs1603019535
NM_000061.3(BTK):c.234G>A (p.Gln78=)
NM_000061.3(BTK):c.239C>T (p.Pro80Leu)
NM_000061.3(BTK):c.240+109C>A rs2147447393
NM_000061.3(BTK):c.240+12_240+24del
NM_000061.3(BTK):c.240+15A>G
NM_000061.3(BTK):c.240+17G>C
NM_000061.3(BTK):c.240+2dup
NM_000061.3(BTK):c.240+8G>A
NM_000061.3(BTK):c.240+9A>T
NM_000061.3(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.3(BTK):c.241-16dup rs1401131061
NM_000061.3(BTK):c.241-1G>C rs2147444958
NM_000061.3(BTK):c.241-3C>T
NM_000061.3(BTK):c.241-4A>G
NM_000061.3(BTK):c.241-5T>C rs2147444963
NM_000061.3(BTK):c.241-7A>G
NM_000061.3(BTK):c.258C>T (p.Ser86=)
NM_000061.3(BTK):c.26T>A (p.Ile9Asn)
NM_000061.3(BTK):c.270del (p.Glu90fs) rs1603017538
NM_000061.3(BTK):c.274del (p.Ile92fs)
NM_000061.3(BTK):c.278C>A (p.Ser93Ter) rs1569295678
NM_000061.3(BTK):c.279A>T (p.Ser93=)
NM_000061.3(BTK):c.282C>G (p.Ile94Met) rs2147444915
NM_000061.3(BTK):c.286G>T (p.Glu96Ter)
NM_000061.3(BTK):c.2T>C (p.Met1Thr) rs128620186
NM_000061.3(BTK):c.302C>T (p.Pro101Leu)
NM_000061.3(BTK):c.303C>G (p.Pro101=)
NM_000061.3(BTK):c.305T>C (p.Phe102Ser) rs2147444867
NM_000061.3(BTK):c.308A>C (p.Gln103Pro)
NM_000061.3(BTK):c.309+11T>C
NM_000061.3(BTK):c.309+13C>T
NM_000061.3(BTK):c.309+1G>A
NM_000061.3(BTK):c.309+8A>G
NM_000061.3(BTK):c.310-19T>A
NM_000061.3(BTK):c.310-1G>C rs864321662
NM_000061.3(BTK):c.310-20C>A
NM_000061.3(BTK):c.310-5C>T
NM_000061.3(BTK):c.310-8C>T
NM_000061.3(BTK):c.318T>C (p.Tyr106=)
NM_000061.3(BTK):c.319G>T (p.Asp107Tyr) rs1926977202
NM_000061.3(BTK):c.321T>C (p.Asp107=)
NM_000061.3(BTK):c.32T>C (p.Leu11Pro) rs1603020228
NM_000061.3(BTK):c.334T>C (p.Tyr112His) rs1926977049
NM_000061.3(BTK):c.336C>A (p.Tyr112Ter) rs1409835623
NM_000061.3(BTK):c.336C>G (p.Tyr112Ter) rs1409835623
NM_000061.3(BTK):c.336C>T (p.Tyr112=)
NM_000061.3(BTK):c.337G>A (p.Val113Ile) rs2147443453
NM_000061.3(BTK):c.344C>T (p.Ser115Phe)
NM_000061.3(BTK):c.345C>T (p.Ser115=) rs782476406
NM_000061.3(BTK):c.349A>C (p.Thr117Pro) rs782820524
NM_000061.3(BTK):c.355G>A (p.Glu119Lys)
NM_000061.3(BTK):c.355del (p.Glu119fs)
NM_000061.3(BTK):c.357A>G (p.Glu119=)
NM_000061.3(BTK):c.36G>A (p.Lys12=)
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.379del (p.Gln127fs)
NM_000061.3(BTK):c.37C>A (p.Arg13=)
NM_000061.3(BTK):c.391+1G>A rs2147443380
NM_000061.3(BTK):c.391G>A (p.Val131Ile)
NM_000061.3(BTK):c.392-8T>C
NM_000061.3(BTK):c.397C>A (p.Arg133=)
NM_000061.3(BTK):c.3G>A (p.Met1Ile) rs1927172387
NM_000061.3(BTK):c.402C>A (p.Tyr134Ter)
NM_000061.3(BTK):c.414G>T (p.Leu138=)
NM_000061.3(BTK):c.41C>T (p.Ser14Phe) rs1057520682
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.3(BTK):c.43del (p.Gln15fs)
NM_000061.3(BTK):c.441del (p.Phe146_Trp147insTer) rs1926711302
NM_000061.3(BTK):c.444C>A (p.Ile148=)
NM_000061.3(BTK):c.455A>G (p.Tyr152Cys)
NM_000061.3(BTK):c.456_457insACTT (p.Leu153fs)
NM_000061.3(BTK):c.457C>A (p.Leu153Ile)
NM_000061.3(BTK):c.460T>G (p.Cys154Gly)
NM_000061.3(BTK):c.465C>A (p.Cys155Ter) rs1926710166
NM_000061.3(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.3(BTK):c.493T>C (p.Cys165Arg) rs1603010344
NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)
NM_000061.3(BTK):c.496C>T (p.Gln166Ter) rs1926708861
NM_000061.3(BTK):c.502T>C (p.Leu168=)
NM_000061.3(BTK):c.513dup (p.Asn172fs)
NM_000061.3(BTK):c.516T>C (p.Asn172=)
NM_000061.3(BTK):c.518G>A (p.Gly173Glu)
NM_000061.3(BTK):c.520+15C>G
NM_000061.3(BTK):c.520+15C>T rs782697907
NM_000061.3(BTK):c.520+18T>C
NM_000061.3(BTK):c.520+19A>G
NM_000061.3(BTK):c.520+1G>A rs2147435832
NM_000061.3(BTK):c.521-11T>C rs1926696577
NM_000061.3(BTK):c.521-16G>C
NM_000061.3(BTK):c.521-1G>A rs1926696248
NM_000061.3(BTK):c.521-5T>C
NM_000061.3(BTK):c.521-5del
NM_000061.3(BTK):c.522C>T (p.Ser174=)
NM_000061.3(BTK):c.52A>G (p.Lys18Glu)
NM_000061.3(BTK):c.532G>A (p.Gly178Arg)
NM_000061.3(BTK):c.543C>T (p.His181=)
NM_000061.3(BTK):c.549_550del (p.Lys183fs)
NM_000061.3(BTK):c.557dup (p.Pro187fs) rs864321665
NM_000061.3(BTK):c.561T>C (p.Pro187=)
NM_000061.3(BTK):c.564del (p.Pro190fs) rs1603009890
NM_000061.3(BTK):c.573G>T (p.Thr191=)
NM_000061.3(BTK):c.576T>C (p.Pro192=)
NM_000061.3(BTK):c.586C>A (p.Gln196Lys)
NM_000061.3(BTK):c.588+14C>G
NM_000061.3(BTK):c.588+1G>A
NM_000061.3(BTK):c.588+1G>T rs1569293252
NM_000061.3(BTK):c.589-12C>T
NM_000061.3(BTK):c.589-13C>T
NM_000061.3(BTK):c.589-17T>C
NM_000061.3(BTK):c.589-4A>G
NM_000061.3(BTK):c.593T>C (p.Leu198Ser)
NM_000061.3(BTK):c.595A>T (p.Lys199Ter) rs2147433246
NM_000061.3(BTK):c.608C>T (p.Pro203Leu)
NM_000061.3(BTK):c.60A>G (p.Thr20=)
NM_000061.3(BTK):c.624A>C (p.Ala208=)
NM_000061.3(BTK):c.62C>A (p.Ser21Ter) rs2147448284
NM_000061.3(BTK):c.633C>T (p.Val211=)
NM_000061.3(BTK):c.639A>C (p.Thr213=)
NM_000061.3(BTK):c.655del (p.Val219fs) rs1569292810
NM_000061.3(BTK):c.679C>A (p.Pro227Thr)
NM_000061.3(BTK):c.680del (p.Pro227fs) rs1603008449
NM_000061.3(BTK):c.696T>C (p.Asp232=)
NM_000061.3(BTK):c.721dup (p.Tyr241fs) rs1603008381
NM_000061.3(BTK):c.754del (p.Trp252fs)
NM_000061.3(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.3(BTK):c.756G>A (p.Trp252Ter) rs1603008349
NM_000061.3(BTK):c.758G>A (p.Arg253Lys)
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.776+16C>T
NM_000061.3(BTK):c.777-16A>G
NM_000061.3(BTK):c.777-17C>A
NM_000061.3(BTK):c.777-1G>A rs1603007942
NM_000061.3(BTK):c.777-2A>G rs193922129
NM_000061.3(BTK):c.777-9C>G
NM_000061.3(BTK):c.778C>T (p.Gln260Ter)
NM_000061.3(BTK):c.77A>G (p.Lys26Arg) rs2147448262
NM_000061.3(BTK):c.804T>C (p.Tyr268=)
NM_000061.3(BTK):c.806del (p.Val269fs) rs1926614700
NM_000061.3(BTK):c.82C>T (p.Arg28Cys) rs1927168815
NM_000061.3(BTK):c.839+19G>A
NM_000061.3(BTK):c.839+1G>C rs1569292649
NM_000061.3(BTK):c.839+4_839+7del
NM_000061.3(BTK):c.839+5G>T
NM_000061.3(BTK):c.839+5_839+6insAGAAATGTATGAGTAAGGCTGACTGTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCATGTTGCTCACACAAAGCCTGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.83G>T (p.Arg28Leu) rs128620185
NM_000061.3(BTK):c.840-17G>T
NM_000061.3(BTK):c.840-1G>A rs193922131
NM_000061.3(BTK):c.840-3C>G
NM_000061.3(BTK):c.840-8C>T
NM_000061.3(BTK):c.846T>C (p.Tyr282=) rs1603007231
NM_000061.3(BTK):c.857T>C (p.Met286Thr)
NM_000061.3(BTK):c.861T>C (p.Thr287=)
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.3(BTK):c.863G>C (p.Arg288Pro)
NM_000061.3(BTK):c.867T>A (p.Ser289Arg) rs1926588297
NM_000061.3(BTK):c.872C>A (p.Ala291Asp)
NM_000061.3(BTK):c.879A>G (p.Gln293=)
NM_000061.3(BTK):c.884T>C (p.Leu295Pro) rs1926588125
NM_000061.3(BTK):c.885A>C (p.Leu295=) rs2041331171
NM_000061.3(BTK):c.889C>T (p.Gln297Ter)
NM_000061.3(BTK):c.892G>A (p.Glu298Lys)
NM_000061.3(BTK):c.894+2dup rs2147430924
NM_000061.3(BTK):c.894+7G>A rs886044875
NM_000061.3(BTK):c.894+9G>A
NM_000061.3(BTK):c.895-11C>T
NM_000061.3(BTK):c.895-13T>C
NM_000061.3(BTK):c.895-1G>T rs1926563964
NM_000061.3(BTK):c.895-2A>G rs193922132
NM_000061.3(BTK):c.895-2A>T
NM_000061.3(BTK):c.895-37_928del rs1926563302
NM_000061.3(BTK):c.895-7G>T
NM_000061.3(BTK):c.905G>T (p.Gly302Val)
NM_000061.3(BTK):c.907G>A (p.Gly303Ser)
NM_000061.3(BTK):c.908G>A (p.Gly303Asp)
NM_000061.3(BTK):c.911T>G (p.Phe304Cys)
NM_000061.3(BTK):c.917T>C (p.Val306Ala)
NM_000061.3(BTK):c.934G>C (p.Ala312Pro) rs1926563146
NM_000061.3(BTK):c.941A>G (p.Lys314Arg) rs1386621585
NM_000061.3(BTK):c.951_952del (p.Ser318fs)
NM_000061.3(BTK):c.953_956del (p.Ser318fs)
NM_000061.3(BTK):c.957_958del (p.Phe320fs)
NM_000061.3(BTK):c.974+17C>T
NM_000061.3(BTK):c.974+18A>G
NM_000061.3(BTK):c.974+1G>A
NM_000061.3(BTK):c.974+5G>C rs2147430161
NM_000061.3(BTK):c.975-19T>G
NM_000061.3(BTK):c.975-1G>T rs2147429973
NM_000061.3(BTK):c.975-4T>G
NM_000061.3(BTK):c.978C>A (p.Asp326Glu)
NM_000061.3(BTK):c.980C>T (p.Pro327Leu) rs1926556967
NM_000061.3(BTK):c.997C>T (p.His333Tyr)
NM_000061.3(BTK):c.998A>C (p.His333Pro)
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000061.3(BTK):c.99C>G (p.Thr33=)
NM_000061.3(BTK):c.99C>T (p.Thr33=)

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.