| SPTB, BETA-IV DOMAIN |
variation |
not specified [RCV000013677] |
Chr14:14q22-q23.2 |
pathogenic|benign |
| SPTB, BETA-IV DOMAIN |
variation |
not specified [RCV000013678] |
Chr14:14q22-q23.2 |
pathogenic|benign |
| NM_001355436.2(SPTB):c.6269+3G>T |
single nucleotide variant |
Elliptocytosis 3 [RCV000013680] |
Chr14:64767300 [GRCh38]
Chr14:65234018 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.6135_6136dup (p.Lys2046fs) |
microsatellite |
Elliptocytosis 3 [RCV000013682] |
Chr14:64767745..64767746 [GRCh38]
Chr14:65234463..65234464 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.6177del (p.Ser2060fs) |
deletion |
Elliptocytosis 3 [RCV000013683] |
Chr14:64767705 [GRCh38]
Chr14:65234423 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NG_016202.2:g.(105169_105646)_(109769_110365)del |
deletion |
Hereditary spherocytosis type 2 [RCV000013689] |
Chr14:14q22-q23.2 |
pathogenic |
| NM_001355436.2(SPTB):c.1912del (p.Arg638fs) |
deletion |
Hereditary spherocytosis type 2 [RCV000013694] |
Chr14:64793751 [GRCh38]
Chr14:65260469 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4292G>A (p.Arg1431Gln) |
single nucleotide variant |
not provided [RCV001507840] |
Chr14:64779906 [GRCh38]
Chr14:65246624 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1331_1338del (p.Leu444fs) |
deletion |
Hereditary spherocytosis type 2 [RCV000655907] |
Chr14:64796560..64796567 [GRCh38]
Chr14:65263278..65263285 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr) |
single nucleotide variant |
Familial hemolytic anemia [RCV000655915] |
Chr14:64766800 [GRCh38]
Chr14:65233518 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro) |
single nucleotide variant |
Elliptocytosis 3 [RCV000013679]|not provided [RCV001781257] |
Chr14:64767725 [GRCh38]
Chr14:65234443 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.604T>C (p.Trp202Arg) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV000013684] |
Chr14:64801797 [GRCh38]
Chr14:65268515 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.6053C>G (p.Ala2018Gly) |
single nucleotide variant |
Elliptocytosis 3 [RCV000013687]|Pyropoikilocytosis, hereditary [RCV000013686] |
Chr14:64767829 [GRCh38]
Chr14:65234547 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) |
single nucleotide variant |
Elliptocytosis 3 [RCV000013688]|Hereditary spherocytosis type 2 [RCV001004906]|not provided [RCV002513020] |
Chr14:64767827 [GRCh38]
Chr14:65234545 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) |
single nucleotide variant |
ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL [RCV000013691]|Hereditary spherocytosis type 2 [RCV001004904]|not provided [RCV003129752] |
Chr14:64767808 [GRCh38]
Chr14:65234526 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro) |
single nucleotide variant |
Elliptocytosis 3 [RCV000013692] |
Chr14:64767691 [GRCh38]
Chr14:65234409 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1A>G (p.Met1Val) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV000013693]|not provided [RCV001781258]|not specified [RCV001000731] |
Chr14:64823094 [GRCh38]
Chr14:65289812 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV000013696]|not provided [RCV001508363] |
Chr14:64772867 [GRCh38]
Chr14:65239585 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001024858.2(SPTB):c.5937+31C>T |
single nucleotide variant |
Lung cancer [RCV000098992] |
Chr14:64769559 [GRCh38]
Chr14:65236277 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1 |
copy number loss |
See cases [RCV000050892] |
Chr14:59917051..66750803 [GRCh38]
Chr14:60383769..67217521 [GRCh37]
Chr14:59453522..66287274 [NCBI36]
Chr14:14q23.1-23.3 |
pathogenic |
| GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 |
copy number loss |
See cases [RCV000051521] |
Chr14:57041036..67208231 [GRCh38]
Chr14:57507754..67674948 [GRCh37]
Chr14:56577507..66744701 [NCBI36]
Chr14:14q22.3-23.3 |
pathogenic |
| NM_001024858.2(SPTB):c.2079G>A (p.Leu693=) |
single nucleotide variant |
Malignant melanoma [RCV000070573] |
Chr14:64793584 [GRCh38]
Chr14:65260302 [GRCh37]
Chr14:64330055 [NCBI36]
Chr14:14q23.3 |
not provided |
| NM_001024858.2(SPTB):c.1632G>A (p.Met544Ile) |
single nucleotide variant |
Malignant melanoma [RCV000070574] |
Chr14:64795349 [GRCh38]
Chr14:65262067 [GRCh37]
Chr14:64331820 [NCBI36]
Chr14:14q23.3 |
not provided |
| NM_001024858.2(SPTB):c.775G>A (p.Glu259Lys) |
single nucleotide variant |
Malignant melanoma [RCV000070575] |
Chr14:64800857 [GRCh38]
Chr14:65267575 [GRCh37]
Chr14:64337328 [NCBI36]
Chr14:14q23.3 |
not provided |
| NM_001024858.2(SPTB):c.471C>T (p.Phe157=) |
single nucleotide variant |
Malignant melanoma [RCV000070576] |
Chr14:64803610 [GRCh38]
Chr14:65270328 [GRCh37]
Chr14:64340081 [NCBI36]
Chr14:14q23.3 |
not provided |
| NM_001024858.2(SPTB):c.465C>T (p.Leu155=) |
single nucleotide variant |
Malignant melanoma [RCV000070577] |
Chr14:64803616 [GRCh38]
Chr14:65270334 [GRCh37]
Chr14:64340087 [NCBI36]
Chr14:14q23.3 |
not provided |
| NM_001355436.2(SPTB):c.1342G>A (p.Asp448Asn) |
single nucleotide variant |
Elliptocytosis [RCV000287358]|Spherocytosis, Dominant [RCV000340064] |
Chr14:64795639 [GRCh38]
Chr14:65262357 [GRCh37]
Chr14:64332110 [NCBI36]
Chr14:14q23.3 |
uncertain significance|not provided |
| NM_001024858.2(SPTB):c.192G>A (p.Val64=) |
single nucleotide variant |
Malignant melanoma [RCV000062780] |
Chr14:64805047 [GRCh38]
Chr14:65271765 [GRCh37]
Chr14:64341518 [NCBI36]
Chr14:14q23.3 |
not provided |
| NM_015549.1(PLEKHG3):c.2915C>T (p.Ser972Leu) |
single nucleotide variant |
Malignant melanoma [RCV000062778] |
Chr14:64743126 [GRCh38]
Chr14:65209844 [GRCh37]
Chr14:64279597 [NCBI36]
Chr14:14q23.3 |
not provided |
| NM_001355436.2(SPTB):c.5799-3C>A |
single nucleotide variant |
not provided [RCV001812392] |
Chr14:64769731 [GRCh38]
Chr14:65236449 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1 |
copy number loss |
See cases [RCV000138250] |
Chr14:62252700..65753416 [GRCh38]
Chr14:62719418..66220134 [GRCh37]
Chr14:61789171..65289887 [NCBI36]
Chr14:14q23.2-23.3 |
pathogenic |
| GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33 |
pathogenic |
| NM_001355436.2(SPTB):c.1795+1G>A |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV000169630]|not provided [RCV001781529] |
Chr14:64794466 [GRCh38]
Chr14:65261184 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter) |
single nucleotide variant |
Hereditary spherocytosis [RCV000766108] |
Chr14:64782493 [GRCh38]
Chr14:65249211 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4175A>G (p.Asn1392Ser) |
single nucleotide variant |
not provided [RCV001507842] |
Chr14:64782381 [GRCh38]
Chr14:65249099 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val) |
single nucleotide variant |
not provided [RCV000756712] |
Chr14:64784248 [GRCh38]
Chr14:65250966 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.2290C>T (p.Arg764Trp) |
single nucleotide variant |
not provided [RCV000756713] |
Chr14:64793373 [GRCh38]
Chr14:65260091 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His) |
single nucleotide variant |
not provided [RCV000756714] |
Chr14:64769114 [GRCh38]
Chr14:65235832 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln) |
single nucleotide variant |
not provided [RCV000756716] |
Chr14:64805084 [GRCh38]
Chr14:65271802 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5486G>A (p.Ser1829Asn) |
single nucleotide variant |
not provided [RCV000756717] |
Chr14:64772647 [GRCh38]
Chr14:65239365 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr) |
single nucleotide variant |
not provided [RCV000756718] |
Chr14:64769672 [GRCh38]
Chr14:65236390 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) |
single nucleotide variant |
Elliptocytosis [RCV000352346]|Hereditary spherocytosis type 2 [RCV001808674]|Spherocytosis, Dominant [RCV000278626]|not provided [RCV001707580]|not specified [RCV000248499] |
Chr14:64793509 [GRCh38]
Chr14:65260227 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.2060G>A (p.Arg687His) |
single nucleotide variant |
Elliptocytosis [RCV000267682]|Spherocytosis, Dominant [RCV000304071]|not provided [RCV001812689]|not specified [RCV000243750] |
Chr14:64793603 [GRCh38]
Chr14:65260321 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) |
single nucleotide variant |
Elliptocytosis [RCV000370587]|Hereditary spherocytosis type 2 [RCV001808676]|Spherocytosis, Dominant [RCV000276049]|not provided [RCV001539178]|not specified [RCV000251016] |
Chr14:64786514 [GRCh38]
Chr14:65253232 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.408C>T (p.His136=) |
single nucleotide variant |
Elliptocytosis [RCV000262323]|Spherocytosis, Dominant [RCV000319838]|not provided [RCV001812692]|not specified [RCV000251080] |
Chr14:64803673 [GRCh38]
Chr14:65270391 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.2781G>A (p.Gln927=) |
single nucleotide variant |
not provided [RCV002518586]|not specified [RCV000243877] |
Chr14:64791742 [GRCh38]
Chr14:65258460 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) |
single nucleotide variant |
Elliptocytosis [RCV000352735]|Hereditary spherocytosis type 2 [RCV001808678]|Spherocytosis, Dominant [RCV000406879]|not provided [RCV001689811]|not specified [RCV000243924] |
Chr14:64779244 [GRCh38]
Chr14:65245962 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4003-12T>C |
single nucleotide variant |
Elliptocytosis [RCV000408247]|Spherocytosis, Dominant [RCV000347404]|not provided [RCV001812691]|not specified [RCV000246377] |
Chr14:64782565 [GRCh38]
Chr14:65249283 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) |
single nucleotide variant |
Elliptocytosis [RCV000321827]|Spherocytosis, Dominant [RCV000378711]|not provided [RCV001812697]|not specified [RCV000246394] |
Chr14:64775149 [GRCh38]
Chr14:65241867 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4143C>T (p.Ser1381=) |
single nucleotide variant |
not provided [RCV002518588]|not specified [RCV000246452] |
Chr14:64782413 [GRCh38]
Chr14:65249131 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.2562C>T (p.Phe854=) |
single nucleotide variant |
Elliptocytosis [RCV000309807]|Spherocytosis, Dominant [RCV000273363]|not provided [RCV001812690]|not specified [RCV000253681] |
Chr14:64793101 [GRCh38]
Chr14:65259819 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.300+7T>C |
single nucleotide variant |
Elliptocytosis [RCV000332167]|Hereditary spherocytosis type 2 [RCV001808675]|Spherocytosis, Dominant [RCV000389049]|not provided [RCV001618400]|not specified [RCV000253794] |
Chr14:64804932 [GRCh38]
Chr14:65271650 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) |
single nucleotide variant |
Elliptocytosis [RCV000372015]|Spherocytosis, Dominant [RCV000317379]|not provided [RCV001812693]|not specified [RCV000241653] |
Chr14:64782435 [GRCh38]
Chr14:65249153 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4564-4G>A |
single nucleotide variant |
Elliptocytosis [RCV000358293]|Spherocytosis, Dominant [RCV000301124]|not provided [RCV001723844]|not specified [RCV000244040] |
Chr14:64775407 [GRCh38]
Chr14:65242125 [GRCh37]
Chr14:14q23.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001355436.2(SPTB):c.2937C>T (p.Ser979=) |
single nucleotide variant |
not specified [RCV000249042] |
Chr14:64787028 [GRCh38]
Chr14:65253746 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) |
single nucleotide variant |
Elliptocytosis [RCV000368699]|Hereditary spherocytosis type 2 [RCV001808672]|Spherocytosis, Dominant [RCV000271794]|not provided [RCV001610597]|not specified [RCV000251470] |
Chr14:64796629 [GRCh38]
Chr14:65263347 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile) |
single nucleotide variant |
Elliptocytosis [RCV000295049]|Spherocytosis, Dominant [RCV000389341]|not provided [RCV001812688]|not specified [RCV000251527] |
Chr14:64793825 [GRCh38]
Chr14:65260543 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) |
single nucleotide variant |
Elliptocytosis [RCV000306018]|Spherocytosis, Dominant [RCV000360695]|not provided [RCV001707581]|not specified [RCV000241782] |
Chr14:64782334 [GRCh38]
Chr14:65249052 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.177C>T (p.Thr59=) |
single nucleotide variant |
Elliptocytosis [RCV000304940]|Spherocytosis, Dominant [RCV000343468]|not provided [RCV001682995]|not specified [RCV000246783] |
Chr14:64805062 [GRCh38]
Chr14:65271780 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4618A>C (p.Arg1540=) |
single nucleotide variant |
not provided [RCV001726074]|not specified [RCV000249198] |
Chr14:64775349 [GRCh38]
Chr14:65242067 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) |
single nucleotide variant |
Elliptocytosis [RCV000297147]|Hereditary spherocytosis type 2 [RCV001808681]|Spherocytosis, Dominant [RCV000405536]|not provided [RCV001753716]|not specified [RCV000253980] |
Chr14:64775326 [GRCh38]
Chr14:65242044 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.6023-8C>T |
single nucleotide variant |
Elliptocytosis [RCV000260752]|Spherocytosis, Dominant [RCV000299613]|not provided [RCV001812701]|not specified [RCV000241964] |
Chr14:64767867 [GRCh38]
Chr14:65234585 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) |
single nucleotide variant |
Elliptocytosis [RCV000402460]|Spherocytosis, Dominant [RCV000347628]|not provided [RCV001812695]|not specified [RCV000249313] |
Chr14:64775215 [GRCh38]
Chr14:65241933 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) |
single nucleotide variant |
Elliptocytosis [RCV000309698]|Hereditary spherocytosis type 2 [RCV001808677]|Spherocytosis, Dominant [RCV000390547]|not provided [RCV001610598]|not specified [RCV000251719] |
Chr14:64779905 [GRCh38]
Chr14:65246623 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.360C>T (p.Leu120=) |
single nucleotide variant |
not specified [RCV000254148] |
Chr14:64803721 [GRCh38]
Chr14:65270439 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.474+13G>A |
single nucleotide variant |
not specified [RCV000244561] |
Chr14:64803594 [GRCh38]
Chr14:65270312 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=) |
single nucleotide variant |
Elliptocytosis [RCV000364275]|Spherocytosis, Dominant [RCV000269778]|not provided [RCV001812694]|not specified [RCV000246967] |
Chr14:64782320 [GRCh38]
Chr14:65249038 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) |
single nucleotide variant |
Elliptocytosis [RCV000387410]|Hereditary spherocytosis type 2 [RCV001808679]|Spherocytosis, Dominant [RCV000295488]|not provided [RCV001640503]|not specified [RCV000247080] |
Chr14:64779238 [GRCh38]
Chr14:65245956 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.6483C>A (p.Ser2161Arg) |
single nucleotide variant |
not specified [RCV000242243] |
Chr14:64753656 [GRCh38]
Chr14:65220374 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.666T>C (p.Phe222=) |
single nucleotide variant |
Elliptocytosis [RCV000312623]|Spherocytosis, Dominant [RCV000346394]|not provided [RCV001812703]|not specified [RCV000247242] |
Chr14:64801382 [GRCh38]
Chr14:65268100 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) |
single nucleotide variant |
Elliptocytosis [RCV000317563]|Hereditary spherocytosis type 2 [RCV001808682]|Spherocytosis, Dominant [RCV000259957]|not provided [RCV001799647]|not specified [RCV000249707] |
Chr14:64774510 [GRCh38]
Chr14:65241228 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) |
single nucleotide variant |
Elliptocytosis [RCV000382354]|Spherocytosis, Dominant [RCV000289779]|not provided [RCV001812696]|not specified [RCV000254525] |
Chr14:64775188 [GRCh38]
Chr14:65241906 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.6891G>A (p.Ala2297=) |
single nucleotide variant |
not provided [RCV001812704]|not specified [RCV000252207] |
Chr14:64749402 [GRCh38]
Chr14:65216120 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4563+12G>C |
single nucleotide variant |
Elliptocytosis [RCV000380340]|Hereditary spherocytosis type 2 [RCV001808680]|Spherocytosis, Dominant [RCV000269519]|not provided [RCV001651144]|not specified [RCV000252246] |
Chr14:64779145 [GRCh38]
Chr14:65245863 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.876+5A>G |
single nucleotide variant |
Elliptocytosis [RCV000334353]|Hereditary spherocytosis type 2 [RCV001808683]|Spherocytosis, Dominant [RCV000281698]|not provided [RCV001812705]|not specified [RCV000242579] |
Chr14:64800751 [GRCh38]
Chr14:65267469 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.5799-7C>T |
single nucleotide variant |
Elliptocytosis [RCV000385714]|Spherocytosis, Dominant [RCV000347558]|not provided [RCV001812699]|not specified [RCV000245048] |
Chr14:64769735 [GRCh38]
Chr14:65236453 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) |
single nucleotide variant |
Elliptocytosis [RCV000321241]|Spherocytosis, Dominant [RCV000266118]|not provided [RCV001533862]|not specified [RCV000250003] |
Chr14:64782348 [GRCh38]
Chr14:65249066 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) |
single nucleotide variant |
Elliptocytosis [RCV000356674]|Spherocytosis, Dominant [RCV000264319]|not provided [RCV001812700]|not specified [RCV000250010] |
Chr14:64769113 [GRCh38]
Chr14:65235831 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.6132G>A (p.Val2044=) |
single nucleotide variant |
not specified [RCV000245354] |
Chr14:64767750 [GRCh38]
Chr14:65234468 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6269+13C>T |
single nucleotide variant |
Elliptocytosis [RCV000346615]|Spherocytosis, Dominant [RCV000289372]|not provided [RCV001812702]|not specified [RCV000250300] |
Chr14:64767290 [GRCh38]
Chr14:65234008 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) |
single nucleotide variant |
Elliptocytosis [RCV000338831]|Hereditary spherocytosis type 2 [RCV001808673]|Spherocytosis, Dominant [RCV000391473]|not provided [RCV001640502]|not specified [RCV000243276] |
Chr14:64796582 [GRCh38]
Chr14:65263300 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) |
single nucleotide variant |
Elliptocytosis [RCV000337365]|Spherocytosis, Dominant [RCV000390805]|not provided [RCV001812698]|not specified [RCV000253047] |
Chr14:64772598 [GRCh38]
Chr14:65239316 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=) |
single nucleotide variant |
Elliptocytosis [RCV000283554]|Spherocytosis, Dominant [RCV000338562]|not provided [RCV002518587]|not specified [RCV000245868] |
Chr14:64786950 [GRCh38]
Chr14:65253668 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=) |
single nucleotide variant |
Elliptocytosis [RCV000281513]|Spherocytosis, Dominant [RCV000338864]|not provided [RCV002056404] |
Chr14:64772856 [GRCh38]
Chr14:65239574 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.2250C>T (p.Gly750=) |
single nucleotide variant |
Elliptocytosis [RCV000377001]|Spherocytosis, Dominant [RCV000282630]|not provided [RCV003565404] |
Chr14:64793413 [GRCh38]
Chr14:65260131 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.1577C>T (p.Thr526Ile) |
single nucleotide variant |
Elliptocytosis [RCV000403028]|SPTB-related condition [RCV003940220]|Spherocytosis, Dominant [RCV000300035] |
Chr14:64795404 [GRCh38]
Chr14:65262122 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.4564-7G>A |
single nucleotide variant |
Elliptocytosis [RCV000265771]|Spherocytosis, Dominant [RCV000323146] |
Chr14:64775410 [GRCh38]
Chr14:65242128 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser) |
single nucleotide variant |
Elliptocytosis [RCV000375251]|Hereditary spherocytosis type 2 [RCV003338569]|SPTB-related condition [RCV003910181]|Spherocytosis, Dominant [RCV000283035]|not provided [RCV003546516] |
Chr14:64775130 [GRCh38]
Chr14:65241848 [GRCh37]
Chr14:14q23.3 |
benign|uncertain significance |
| NM_001355436.2(SPTB):c.5255C>G (p.Ala1752Gly) |
single nucleotide variant |
Elliptocytosis [RCV000284990]|Spherocytosis, Dominant [RCV000391797] |
Chr14:64772878 [GRCh38]
Chr14:65239596 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.414T>C (p.Ile138=) |
single nucleotide variant |
Elliptocytosis [RCV000359327]|Spherocytosis, Dominant [RCV000302256]|not provided [RCV003409490] |
Chr14:64803667 [GRCh38]
Chr14:65270385 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) |
single nucleotide variant |
Elliptocytosis 3 [RCV001329811]|Elliptocytosis [RCV000303487]|Spherocytosis, Dominant [RCV000358248]|not provided [RCV001812815] |
Chr14:64795375 [GRCh38]
Chr14:65262093 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.96T>C (p.Asn32=) |
single nucleotide variant |
Elliptocytosis [RCV000408095]|Spherocytosis, Dominant [RCV000303586]|not provided [RCV002056407] |
Chr14:64822999 [GRCh38]
Chr14:65289717 [GRCh37]
Chr14:14q23.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.2303G>A (p.Gly768Asp) |
single nucleotide variant |
Elliptocytosis [RCV000267188]|Spherocytosis, Dominant [RCV000322302]|not provided [RCV001812812] |
Chr14:64793360 [GRCh38]
Chr14:65260078 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.609G>A (p.Lys203=) |
single nucleotide variant |
Elliptocytosis [RCV000268079]|Spherocytosis, Dominant [RCV000360454]|not provided [RCV001812819] |
Chr14:64801792 [GRCh38]
Chr14:65268510 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=) |
single nucleotide variant |
Elliptocytosis [RCV000378211]|Spherocytosis, Dominant [RCV000286123]|not provided [RCV002522311] |
Chr14:64766747 [GRCh38]
Chr14:65233465 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.3780C>T (p.Asn1260=) |
single nucleotide variant |
Elliptocytosis [RCV000405949]|Spherocytosis, Dominant [RCV000303974]|not provided [RCV003546517] |
Chr14:64785612 [GRCh38]
Chr14:65252330 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln) |
single nucleotide variant |
Elliptocytosis 3 [RCV001329815]|Elliptocytosis [RCV000325444]|Spherocytosis, Dominant [RCV000268024]|not provided [RCV001812808] |
Chr14:64769612 [GRCh38]
Chr14:65236330 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.4782C>T (p.Asp1594=) |
single nucleotide variant |
Elliptocytosis [RCV000286692]|Spherocytosis, Dominant [RCV000344056] |
Chr14:64775185 [GRCh38]
Chr14:65241903 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3103C>T (p.Arg1035Trp) |
single nucleotide variant |
Elliptocytosis [RCV000286900]|Spherocytosis, Dominant [RCV000381318]|not provided [RCV002261045] |
Chr14:64786862 [GRCh38]
Chr14:65253580 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.4563+11C>T |
single nucleotide variant |
Elliptocytosis [RCV000326786]|Spherocytosis, Dominant [RCV000383759] |
Chr14:64779146 [GRCh38]
Chr14:65245864 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His) |
single nucleotide variant |
Elliptocytosis [RCV000403325]|Spherocytosis, Dominant [RCV000349988]|not provided [RCV003137916] |
Chr14:64767336 [GRCh38]
Chr14:65234054 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3855+7C>A |
single nucleotide variant |
Elliptocytosis [RCV000288968]|Spherocytosis, Dominant [RCV000343976] |
Chr14:64785530 [GRCh38]
Chr14:65252248 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.996C>T (p.Asn332=) |
single nucleotide variant |
Elliptocytosis [RCV000270118]|Spherocytosis, Dominant [RCV000322815]|not provided [RCV001812818] |
Chr14:64799815 [GRCh38]
Chr14:65266533 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=) |
single nucleotide variant |
Elliptocytosis [RCV000362894]|SPTB-related condition [RCV003930343]|Spherocytosis, Dominant [RCV000270638]|not provided [RCV003565403] |
Chr14:64772670 [GRCh38]
Chr14:65239388 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.2441G>A (p.Arg814Gln) |
single nucleotide variant |
Elliptocytosis [RCV000270879]|Inborn genetic diseases [RCV002520910]|Spherocytosis, Dominant [RCV000365504] |
Chr14:64793222 [GRCh38]
Chr14:65259940 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1504C>T (p.Arg502Cys) |
single nucleotide variant |
Elliptocytosis [RCV000330884]|Spherocytosis, Dominant [RCV000273442]|not provided [RCV003137920]|not specified [RCV001002601] |
Chr14:64795477 [GRCh38]
Chr14:65262195 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys) |
single nucleotide variant |
Elliptocytosis [RCV000290321]|Inborn genetic diseases [RCV002522312]|Spherocytosis, Dominant [RCV000381850]|not provided [RCV001812809] |
Chr14:64769717 [GRCh38]
Chr14:65236435 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.1048G>A (p.Val350Met) |
single nucleotide variant |
Elliptocytosis [RCV000329227]|Spherocytosis, Dominant [RCV000362952]|not provided [RCV003488528] |
Chr14:64799763 [GRCh38]
Chr14:65266481 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.3311C>G (p.Ala1104Gly) |
single nucleotide variant |
Elliptocytosis [RCV000290473]|Spherocytosis, Dominant [RCV000326706]|not provided [RCV003765825] |
Chr14:64786654 [GRCh38]
Chr14:65253372 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.221G>A (p.Arg74His) |
single nucleotide variant |
Elliptocytosis [RCV000290958]|Inborn genetic diseases [RCV003243069]|SPTB-related condition [RCV003972337]|Spherocytosis, Dominant [RCV000383070]|not provided [RCV003480596] |
Chr14:64805018 [GRCh38]
Chr14:65271736 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1493G>A (p.Arg498His) |
single nucleotide variant |
Elliptocytosis [RCV000382998]|Pyropoikilocytosis, hereditary [RCV001329810]|SPTB-related condition [RCV003910182]|Spherocytosis, Dominant [RCV000291040]|not provided [RCV002261046] |
Chr14:64795488 [GRCh38]
Chr14:65262206 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6345+321A>G |
single nucleotide variant |
Elliptocytosis [RCV000310634]|Spherocytosis, Dominant [RCV000365346] |
Chr14:64766405 [GRCh38]
Chr14:65233123 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.5439C>T (p.Ile1813=) |
single nucleotide variant |
Elliptocytosis [RCV000274337]|Spherocytosis, Dominant [RCV000331736] |
Chr14:64772694 [GRCh38]
Chr14:65239412 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val) |
single nucleotide variant |
Elliptocytosis [RCV000349127]|SPTB-related condition [RCV003930344]|Spherocytosis, Dominant [RCV000291893]|not provided [RCV002056405] |
Chr14:64779209 [GRCh38]
Chr14:65245927 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001355436.2(SPTB):c.228C>G (p.Thr76=) |
single nucleotide variant |
Elliptocytosis [RCV000349599]|Spherocytosis, Dominant [RCV000292283]|not provided [RCV003736708] |
Chr14:64805011 [GRCh38]
Chr14:65271729 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.345T>C (p.Asn115=) |
single nucleotide variant |
Elliptocytosis [RCV000260673]|Spherocytosis, Dominant [RCV000372245]|not provided [RCV001812820] |
Chr14:64803736 [GRCh38]
Chr14:65270454 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His) |
single nucleotide variant |
Elliptocytosis [RCV000260948]|SPTB-related condition [RCV003930345]|Spherocytosis, Dominant [RCV000316138]|not provided [RCV001507849] |
Chr14:64786486 [GRCh38]
Chr14:65253204 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.1866G>A (p.Leu622=) |
single nucleotide variant |
Elliptocytosis [RCV000260866]|Spherocytosis, Dominant [RCV000316040] |
Chr14:64793797 [GRCh38]
Chr14:65260515 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6345+251G>A |
single nucleotide variant |
Elliptocytosis [RCV000371404]|Spherocytosis, Dominant [RCV000276822] |
Chr14:64766475 [GRCh38]
Chr14:65233193 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6345+317G>A |
single nucleotide variant |
Elliptocytosis [RCV000311935]|Spherocytosis, Dominant [RCV000275578] |
Chr14:64766409 [GRCh38]
Chr14:65233127 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) |
single nucleotide variant |
Elliptocytosis [RCV000292952]|Spherocytosis, Dominant [RCV000387164]|not provided [RCV001507844] |
Chr14:64782481 [GRCh38]
Chr14:65249199 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.5775G>T (p.Gln1925His) |
single nucleotide variant |
Elliptocytosis [RCV000293689]|Spherocytosis, Dominant [RCV000350974] |
Chr14:64770908 [GRCh38]
Chr14:65237626 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.-23G>A |
single nucleotide variant |
Elliptocytosis [RCV000276326]|Spherocytosis, Dominant [RCV000333712] |
Chr14:64823117 [GRCh38]
Chr14:65289835 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.807T>C (p.Tyr269=) |
single nucleotide variant |
Elliptocytosis [RCV000294979]|Spherocytosis, Dominant [RCV000393095]|not provided [RCV002056406] |
Chr14:64800825 [GRCh38]
Chr14:65267543 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.5554-3C>T |
single nucleotide variant |
Elliptocytosis [RCV000405893]|Spherocytosis, Dominant [RCV000278398]|not provided [RCV000974284] |
Chr14:64771132 [GRCh38]
Chr14:65237850 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4076G>A (p.Arg1359Gln) |
single nucleotide variant |
Elliptocytosis [RCV000296462]|Spherocytosis, Dominant [RCV000332747]|not provided [RCV003137917] |
Chr14:64782480 [GRCh38]
Chr14:65249198 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5319C>T (p.Asp1773=) |
single nucleotide variant |
Elliptocytosis [RCV000296704]|Spherocytosis, Dominant [RCV000388695]|not provided [RCV003765824] |
Chr14:64772814 [GRCh38]
Chr14:65239532 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.18G>C (p.Glu6Asp) |
single nucleotide variant |
Elliptocytosis [RCV000297871]|Spherocytosis, Dominant [RCV000355095] |
Chr14:64823077 [GRCh38]
Chr14:65289795 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln) |
single nucleotide variant |
Elliptocytosis [RCV000369811]|Spherocytosis, Dominant [RCV000298689]|not provided [RCV001812817] |
Chr14:64796595 [GRCh38]
Chr14:65263313 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.2979C>G (p.Ile993Met) |
single nucleotide variant |
Elliptocytosis [RCV000404059]|Spherocytosis, Dominant [RCV000298942]|not provided [RCV003137918] |
Chr14:64786986 [GRCh38]
Chr14:65253704 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.947C>T (p.Thr316Ile) |
single nucleotide variant |
Elliptocytosis [RCV000282927]|Hereditary spherocytosis type 2 [RCV003338570]|Spherocytosis, Dominant [RCV000379719]|not provided [RCV003480595] |
Chr14:64799864 [GRCh38]
Chr14:65266582 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1707G>A (p.Lys569=) |
single nucleotide variant |
Elliptocytosis [RCV000342983]|Spherocytosis, Dominant [RCV000406610]|not provided [RCV001812814] |
Chr14:64794555 [GRCh38]
Chr14:65261273 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.6345+162G>C |
single nucleotide variant |
Elliptocytosis [RCV000321275]|Spherocytosis, Dominant [RCV000263821] |
Chr14:64766564 [GRCh38]
Chr14:65233282 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) |
single nucleotide variant |
Elliptocytosis 3 [RCV001329812]|Elliptocytosis [RCV000356316]|Spherocytosis, Dominant [RCV000263879]|not provided [RCV001753775] |
Chr14:64823069 [GRCh38]
Chr14:65289787 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.1328G>A (p.Arg443His) |
single nucleotide variant |
Elliptocytosis [RCV000391465]|Spherocytosis, Dominant [RCV000281463]|not provided [RCV003137921] |
Chr14:64796570 [GRCh38]
Chr14:65263288 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3091G>T (p.Asp1031Tyr) |
single nucleotide variant |
Elliptocytosis [RCV000392924]|Spherocytosis, Dominant [RCV000342059] |
Chr14:64786874 [GRCh38]
Chr14:65253592 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5928C>G (p.Ala1976=) |
single nucleotide variant |
Elliptocytosis [RCV000321880]|Spherocytosis, Dominant [RCV000378804] |
Chr14:64769599 [GRCh38]
Chr14:65236317 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.204G>A (p.Leu68=) |
single nucleotide variant |
Elliptocytosis [RCV000343687]|Spherocytosis, Dominant [RCV000408063]|not provided [RCV001812821] |
Chr14:64805035 [GRCh38]
Chr14:65271753 [GRCh37]
Chr14:14q23.3 |
benign|uncertain significance |
| NM_001355436.2(SPTB):c.1561C>T (p.Arg521Cys) |
single nucleotide variant |
Elliptocytosis [RCV000354950]|Inborn genetic diseases [RCV002522315]|Spherocytosis, Dominant [RCV000260602] |
Chr14:64795420 [GRCh38]
Chr14:65262138 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2116C>T (p.Arg706Cys) |
single nucleotide variant |
Elliptocytosis [RCV000403276]|Spherocytosis, Dominant [RCV000349076]|not provided [RCV001859879] |
Chr14:64793547 [GRCh38]
Chr14:65260265 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5467G>A (p.Asp1823Asn) |
single nucleotide variant |
Elliptocytosis [RCV000305906]|Inborn genetic diseases [RCV002520908]|Spherocytosis, Dominant [RCV000397120]|not provided [RCV001508362]|not specified [RCV000507342] |
Chr14:64772666 [GRCh38]
Chr14:65239384 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr) |
single nucleotide variant |
Elliptocytosis [RCV000306950]|Spherocytosis, Dominant [RCV000408007]|not provided [RCV002520911] |
Chr14:64794497 [GRCh38]
Chr14:65261215 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.646C>T (p.Arg216Trp) |
single nucleotide variant |
Elliptocytosis [RCV000403154]|Spherocytosis, Dominant [RCV000306714] |
Chr14:64801755 [GRCh38]
Chr14:65268473 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4606G>C (p.Asp1536His) |
single nucleotide variant |
Elliptocytosis [RCV000354478]|Spherocytosis, Dominant [RCV000261981] |
Chr14:64775361 [GRCh38]
Chr14:65242079 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4176C>T (p.Asn1392=) |
single nucleotide variant |
Elliptocytosis [RCV000262233]|Spherocytosis, Dominant [RCV000357121] |
Chr14:64782380 [GRCh38]
Chr14:65249098 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5456A>T (p.Glu1819Val) |
single nucleotide variant |
Elliptocytosis [RCV000328227]|Inborn genetic diseases [RCV002522313]|Spherocytosis, Dominant [RCV000366566] |
Chr14:64772677 [GRCh38]
Chr14:65239395 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2108T>C (p.Met703Thr) |
single nucleotide variant |
Elliptocytosis [RCV000307726]|Spherocytosis, Dominant [RCV000362442] |
Chr14:64793555 [GRCh38]
Chr14:65260273 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.773C>T (p.Thr258Met) |
single nucleotide variant |
Elliptocytosis [RCV000352235]|Inborn genetic diseases [RCV002520912]|Spherocytosis, Dominant [RCV000406739] |
Chr14:64800859 [GRCh38]
Chr14:65267577 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6270-8_6270-6dup |
duplication |
Elliptocytosis [RCV000343306]|Spherocytosis, Dominant [RCV000381597]|not provided [RCV000892598] |
Chr14:64766806..64766807 [GRCh38]
Chr14:65233524..65233525 [GRCh37]
Chr14:14q23.3 |
benign|uncertain significance |
| NM_001355436.2(SPTB):c.2005C>T (p.Leu669=) |
single nucleotide variant |
Elliptocytosis [RCV000264053]|Spherocytosis, Dominant [RCV000358816] |
Chr14:64793658 [GRCh38]
Chr14:65260376 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4973+12C>T |
single nucleotide variant |
Elliptocytosis [RCV000275113]|Spherocytosis, Dominant [RCV000367573] |
Chr14:64774385 [GRCh38]
Chr14:65241103 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln) |
single nucleotide variant |
Elliptocytosis [RCV000331133]|Spherocytosis, Dominant [RCV000385687]|not provided [RCV001812810] |
Chr14:64786540 [GRCh38]
Chr14:65253258 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.1512C>T (p.Asp504=) |
single nucleotide variant |
Elliptocytosis [RCV000370402]|Spherocytosis, Dominant [RCV000332118]|not provided [RCV001812816] |
Chr14:64795469 [GRCh38]
Chr14:65262187 [GRCh37]
Chr14:14q23.3 |
benign|uncertain significance |
| NM_001355436.2(SPTB):c.2934G>A (p.Glu978=) |
single nucleotide variant |
Elliptocytosis [RCV000353842]|Spherocytosis, Dominant [RCV000404281]|not provided [RCV001812811] |
Chr14:64787031 [GRCh38]
Chr14:65253749 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=) |
single nucleotide variant |
Elliptocytosis [RCV000310519]|Spherocytosis, Dominant [RCV000406158]|not provided [RCV001508364] |
Chr14:64773346 [GRCh38]
Chr14:65240064 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.1286G>A (p.Arg429Gln) |
single nucleotide variant |
Elliptocytosis [RCV000405894]|Spherocytosis, Dominant [RCV000311567] |
Chr14:64796612 [GRCh38]
Chr14:65263330 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4973+4C>T |
single nucleotide variant |
Elliptocytosis [RCV000332778]|Spherocytosis, Dominant [RCV000371053]|not provided [RCV000899188] |
Chr14:64774393 [GRCh38]
Chr14:65241111 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.4651G>T (p.Asp1551Tyr) |
single nucleotide variant |
Elliptocytosis [RCV000351040]|Spherocytosis, Dominant [RCV000312530] |
Chr14:64775316 [GRCh38]
Chr14:65242034 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2149C>T (p.Arg717Cys) |
single nucleotide variant |
Elliptocytosis [RCV000393004]|Spherocytosis, Dominant [RCV000312823]|not provided [RCV003137919] |
Chr14:64793514 [GRCh38]
Chr14:65260232 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2656G>T (p.Val886Leu) |
single nucleotide variant |
Elliptocytosis [RCV000313348]|Spherocytosis, Dominant [RCV000368002]|not provided [RCV002520909] |
Chr14:64793007 [GRCh38]
Chr14:65259725 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.3624G>A (p.Arg1208=) |
single nucleotide variant |
Elliptocytosis [RCV000402899]|Spherocytosis, Dominant [RCV000358711]|not provided [RCV003698762] |
Chr14:64785889 [GRCh38]
Chr14:65252607 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.2188G>A (p.Asp730Asn) |
single nucleotide variant |
Elliptocytosis [RCV000337297]|Spherocytosis, Dominant [RCV000373232] |
Chr14:64793475 [GRCh38]
Chr14:65260193 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=) |
single nucleotide variant |
Elliptocytosis [RCV000315204]|Spherocytosis, Dominant [RCV000353639]|not provided [RCV001726110] |
Chr14:64767708 [GRCh38]
Chr14:65234426 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.5294C>T (p.Ala1765Val) |
single nucleotide variant |
Elliptocytosis [RCV000316717]|Spherocytosis, Dominant [RCV000373712] |
Chr14:64772839 [GRCh38]
Chr14:65239557 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) |
single nucleotide variant |
Elliptocytosis 3 [RCV001329814]|SPTB-related condition [RCV003947824]|not provided [RCV001091049] |
Chr14:64771032 [GRCh38]
Chr14:65237750 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.1896A>G (p.Gln632=) |
single nucleotide variant |
Elliptocytosis [RCV000373801]|Spherocytosis, Dominant [RCV000319100]|not provided [RCV001812813] |
Chr14:64793767 [GRCh38]
Chr14:65260485 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002283991] |
Chr14:64786883 [GRCh38]
Chr14:65253601 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV000490389] |
Chr14:64772678 [GRCh38]
Chr14:65239396 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1870A>G (p.Asn624Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003245139] |
Chr14:64793793 [GRCh38]
Chr14:65260511 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003314501] |
Chr14:64769103 [GRCh38]
Chr14:65235821 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5530G>C (p.Glu1844Gln) |
single nucleotide variant |
Elliptocytosis [RCV000359511]|Spherocytosis, Dominant [RCV000302354] |
Chr14:64772603 [GRCh38]
Chr14:65239321 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1795+9A>C |
single nucleotide variant |
Elliptocytosis [RCV000346321]|Spherocytosis, Dominant [RCV000291453] |
Chr14:64794458 [GRCh38]
Chr14:65261176 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6345+203C>T |
single nucleotide variant |
Elliptocytosis [RCV000374916]|Spherocytosis, Dominant [RCV000315627] |
Chr14:64766523 [GRCh38]
Chr14:65233241 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1796G>A (p.Gly599Glu) |
single nucleotide variant |
Elliptocytosis [RCV000349718]|Spherocytosis, Dominant [RCV000385612] |
Chr14:64793867 [GRCh38]
Chr14:65260585 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5112G>T (p.Gln1704His) |
single nucleotide variant |
Elliptocytosis [RCV000364199]|Spherocytosis, Dominant [RCV000307239] |
Chr14:64773286 [GRCh38]
Chr14:65240004 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.940C>G (p.Leu314Val) |
single nucleotide variant |
Elliptocytosis [RCV000321491]|Spherocytosis, Dominant [RCV000373860] |
Chr14:64799871 [GRCh38]
Chr14:65266589 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6269+7G>T |
single nucleotide variant |
Elliptocytosis [RCV000403704]|Spherocytosis, Dominant [RCV000311750] |
Chr14:64767296 [GRCh38]
Chr14:65234014 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2419C>G (p.Gln807Glu) |
single nucleotide variant |
Elliptocytosis [RCV000326052]|Spherocytosis, Dominant [RCV000380614] |
Chr14:64793244 [GRCh38]
Chr14:65259962 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5181T>C (p.Leu1727=) |
single nucleotide variant |
Elliptocytosis [RCV000405791]|Spherocytosis, Dominant [RCV000342220] |
Chr14:64772952 [GRCh38]
Chr14:65239670 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3536A>G (p.Gln1179Arg) |
single nucleotide variant |
Elliptocytosis [RCV000300914]|Inborn genetic diseases [RCV002522314]|Spherocytosis, Dominant [RCV000355761] |
Chr14:64786429 [GRCh38]
Chr14:65253147 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1431G>A (p.Arg477=) |
single nucleotide variant |
Elliptocytosis [RCV000379371]|Spherocytosis, Dominant [RCV000327115]|not provided [RCV003736707] |
Chr14:64795550 [GRCh38]
Chr14:65262268 [GRCh37]
Chr14:14q23.3 |
benign|uncertain significance |
| NM_001355436.2(SPTB):c.4349G>T (p.Gly1450Val) |
single nucleotide variant |
Elliptocytosis [RCV000313273]|Spherocytosis, Dominant [RCV000349400] |
Chr14:64779849 [GRCh38]
Chr14:65246567 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4973+5G>A |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV000655910]|not provided [RCV001379964] |
Chr14:64774392 [GRCh38]
Chr14:65241110 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.6706C>A (p.Leu2236Met) |
single nucleotide variant |
Familial hemolytic anemia [RCV000655911] |
Chr14:64750051 [GRCh38]
Chr14:65216769 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV000655908]|SPTB-related condition [RCV003432719]|not provided [RCV003133483] |
Chr14:64801754 [GRCh38]
Chr14:65268472 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV000655909]|not provided [RCV001784220] |
Chr14:64787102 [GRCh38]
Chr14:65253820 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV000655914] |
Chr14:64771060 [GRCh38]
Chr14:65237778 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2197G>C (p.Ala733Pro) |
single nucleotide variant |
not provided [RCV000415846] |
Chr14:64793466 [GRCh38]
Chr14:65260184 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4058del (p.Lys1353fs) |
deletion |
not specified [RCV001000999] |
Chr14:64782498 [GRCh38]
Chr14:65249216 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) |
single nucleotide variant |
not provided [RCV001508726]|not specified [RCV000733349] |
Chr14:64787084 [GRCh38]
Chr14:65253802 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) |
single nucleotide variant |
SPTB-related condition [RCV003908052]|not provided [RCV000733351] |
Chr14:64773348 [GRCh38]
Chr14:65240066 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 |
copy number gain |
See cases [RCV000448557] |
Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| NM_001355436.2(SPTB):c.5287A>G (p.Ser1763Gly) |
single nucleotide variant |
not provided [RCV001811009] |
Chr14:64772846 [GRCh38]
Chr14:65239564 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5899G>A (p.Glu1967Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003254242] |
Chr14:64769628 [GRCh38]
Chr14:65236346 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6734T>C (p.Ile2245Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003255554] |
Chr14:64750023 [GRCh38]
Chr14:65216741 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6737C>T (p.Ala2246Val) |
single nucleotide variant |
Familial hemolytic anemia [RCV000655912] |
Chr14:64750020 [GRCh38]
Chr14:65216738 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1499C>T (p.Thr500Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003295206] |
Chr14:64795482 [GRCh38]
Chr14:65262200 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs) |
duplication |
Hereditary spherocytosis [RCV000626334] |
Chr14:64767686..64767687 [GRCh38]
Chr14:65234404..65234405 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5794_5798+6del |
deletion |
Hemolytic anemia [RCV000626665] |
Chr14:64770879..64770889 [GRCh38]
Chr14:65237597..65237607 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5771G>A (p.Arg1924Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003241937]|not provided [RCV003491355] |
Chr14:64770912 [GRCh38]
Chr14:65237630 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV000655913]|not provided [RCV001507847] |
Chr14:64784333 [GRCh38]
Chr14:65251051 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.6518G>C (p.Arg2173Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003296420]|SPTB-related condition [RCV003954083]|not provided [RCV003395744] |
Chr14:64753621 [GRCh38]
Chr14:65220339 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro) |
single nucleotide variant |
Hereditary spherocytosis [RCV000625738] |
Chr14:64767787 [GRCh38]
Chr14:65234505 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.6757A>C (p.Lys2253Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003239384] |
Chr14:64750000 [GRCh38]
Chr14:65216718 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys) |
single nucleotide variant |
SPTB-related condition [RCV003928149]|not provided [RCV000658697] |
Chr14:64753655 [GRCh38]
Chr14:65220373 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001807992] |
Chr14:64772687 [GRCh38]
Chr14:65239405 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4699G>C (p.Asp1567His) |
single nucleotide variant |
not provided [RCV002068749] |
Chr14:64775268 [GRCh38]
Chr14:65241986 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly) |
single nucleotide variant |
SPTB-related condition [RCV003953424]|not provided [RCV001507835] |
Chr14:64775297 [GRCh38]
Chr14:65242015 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| NM_001355436.2(SPTB):c.4003-265del |
deletion |
not provided [RCV001540599] |
Chr14:64782818 [GRCh38]
Chr14:65249536 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1933G>T (p.Glu645Ter) |
single nucleotide variant |
not provided [RCV001812455] |
Chr14:64793730 [GRCh38]
Chr14:65260448 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.-51-103T>C |
single nucleotide variant |
not provided [RCV001691650] |
Chr14:64823248 [GRCh38]
Chr14:65289966 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.3391C>T (p.Gln1131Ter) |
single nucleotide variant |
not provided [RCV001812371] |
Chr14:64786574 [GRCh38]
Chr14:65253292 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2858C>G (p.Ala953Gly) |
single nucleotide variant |
not provided [RCV001812415] |
Chr14:64787107 [GRCh38]
Chr14:65253825 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3106dup (p.Gln1036fs) |
duplication |
Hereditary spherocytosis type 2 [RCV001534599] |
Chr14:64786858..64786859 [GRCh38]
Chr14:65253576..65253577 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4842+1G>C |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001534601] |
Chr14:64775124 [GRCh38]
Chr14:65241842 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001534602]|not provided [RCV003120529] |
Chr14:64799787 [GRCh38]
Chr14:65266505 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2278C>T (p.Gln760Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001534603]|not provided [RCV001871646] |
Chr14:64793385 [GRCh38]
Chr14:65260103 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4474-42C>T |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001810286]|not provided [RCV001709428] |
Chr14:64779288 [GRCh38]
Chr14:65246006 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.2723A>G (p.Asn908Ser) |
single nucleotide variant |
not provided [RCV000761883] |
Chr14:64791800 [GRCh38]
Chr14:65258518 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.656T>C (p.Leu219Pro) |
single nucleotide variant |
not provided [RCV000761884] |
Chr14:64801392 [GRCh38]
Chr14:65268110 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.474+110del |
deletion |
not provided [RCV001669419] |
Chr14:64803497 [GRCh38]
Chr14:65270215 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.908T>C (p.Met303Thr) |
single nucleotide variant |
not provided [RCV003312284] |
Chr14:64799903 [GRCh38]
Chr14:65266621 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1183-160dup |
duplication |
not provided [RCV001665833] |
Chr14:64796872..64796873 [GRCh38]
Chr14:65263590..65263591 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.3784_3787del (p.Lys1262fs) |
deletion |
Hereditary spherocytosis type 2 [RCV000984331] |
Chr14:64785605..64785608 [GRCh38]
Chr14:65252323..65252326 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1492C>T (p.Arg498Cys) |
single nucleotide variant |
SPTB-related condition [RCV003898268]|not provided [RCV001812278] |
Chr14:64795489 [GRCh38]
Chr14:65262207 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6483C>T (p.Ser2161=) |
single nucleotide variant |
not provided [RCV001726478] |
Chr14:64753656 [GRCh38]
Chr14:65220374 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.6866A>C (p.Glu2289Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003243930] |
Chr14:64749427 [GRCh38]
Chr14:65216145 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5000_5001insGCCC (p.Val1668fs) |
insertion |
not provided [RCV001091050] |
Chr14:64773397..64773398 [GRCh38]
Chr14:65240115..65240116 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5090G>A (p.Arg1697Gln) |
single nucleotide variant |
not specified [RCV001001746] |
Chr14:64773308 [GRCh38]
Chr14:65240026 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3128G>A (p.Trp1043Ter) |
single nucleotide variant |
not provided [RCV003141926]|not specified [RCV001002152] |
Chr14:64786837 [GRCh38]
Chr14:65253555 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5668G>A (p.Asp1890Asn) |
single nucleotide variant |
not specified [RCV001002645] |
Chr14:64771015 [GRCh38]
Chr14:65237733 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4615C>T (p.Gln1539Ter) |
single nucleotide variant |
not provided [RCV003480288] |
Chr14:64775352 [GRCh38]
Chr14:65242070 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1625_1632dup (p.Asp545fs) |
duplication |
not provided [RCV003480298] |
Chr14:64795348..64795349 [GRCh38]
Chr14:65262066..65262067 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3538G>A (p.Ala1180Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003251394]|not provided [RCV003491352] |
Chr14:64786427 [GRCh38]
Chr14:65253145 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1341+272C>G |
single nucleotide variant |
not provided [RCV001612045] |
Chr14:64796285 [GRCh38]
Chr14:65263003 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.3855+185del |
deletion |
not provided [RCV001635973] |
Chr14:64785352 [GRCh38]
Chr14:65252070 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.2647del (p.Leu883fs) |
deletion |
Hereditary spherocytosis type 2 [RCV001534604] |
Chr14:64793016 [GRCh38]
Chr14:65259734 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.475-276T>C |
single nucleotide variant |
not provided [RCV001598108] |
Chr14:64802593 [GRCh38]
Chr14:65269311 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4346del (p.Gly1449fs) |
deletion |
not provided [RCV002284336] |
Chr14:64779852 [GRCh38]
Chr14:65246570 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2805-129del |
deletion |
not provided [RCV001688885] |
Chr14:64787289 [GRCh38]
Chr14:65254007 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4373dup (p.Arg1459fs) |
duplication |
not provided [RCV002284335] |
Chr14:64779824..64779825 [GRCh38]
Chr14:65246542..65246543 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5218G>A (p.Gly1740Arg) |
single nucleotide variant |
not provided [RCV002284794] |
Chr14:64772915 [GRCh38]
Chr14:65239633 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.567-166T>C |
single nucleotide variant |
not provided [RCV001620668] |
Chr14:64802000 [GRCh38]
Chr14:65268718 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4002+209T>C |
single nucleotide variant |
not provided [RCV001677076] |
Chr14:64784038 [GRCh38]
Chr14:65250756 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4474-217A>G |
single nucleotide variant |
not provided [RCV001687907] |
Chr14:64779463 [GRCh38]
Chr14:65246181 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.3188T>C (p.Leu1063Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002901148] |
Chr14:64786777 [GRCh38]
Chr14:65253495 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6142A>C (p.Ile2048Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002836689] |
Chr14:64767740 [GRCh38]
Chr14:65234458 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2749_2750del (p.Ser917fs) |
microsatellite |
Hereditary spherocytosis type 2 [RCV003108004]|not provided [RCV003134416] |
Chr14:64791773..64791774 [GRCh38]
Chr14:65258491..65258492 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.836A>C (p.Lys279Thr) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001563673] |
Chr14:64800796 [GRCh38]
Chr14:65267514 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2163_2164dup (p.Ser722fs) |
microsatellite |
Hereditary spherocytosis [RCV003234638] |
Chr14:64793498..64793499 [GRCh38]
Chr14:65260216..65260217 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5059dup (p.Glu1687fs) |
duplication |
Hereditary spherocytosis type 2 [RCV002464045] |
Chr14:64773338..64773339 [GRCh38]
Chr14:65240056..65240057 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.6369T>G (p.Pro2123=) |
single nucleotide variant |
not provided [RCV000995190] |
Chr14:64753770 [GRCh38]
Chr14:65220488 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del) |
microsatellite |
Elliptocytosis 3 [RCV002489493]|not provided [RCV000995191] |
Chr14:64753783..64753785 [GRCh38]
Chr14:65220501..65220503 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002249601]|not provided [RCV000995192] |
Chr14:64785834 [GRCh38]
Chr14:65252552 [GRCh37]
Chr14:14q23.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.652G>A (p.Asp218Asn) |
single nucleotide variant |
not provided [RCV003480082] |
Chr14:64801396 [GRCh38]
Chr14:65268114 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.648-36_648-17del |
deletion |
not provided [RCV003480083] |
Chr14:64801417..64801436 [GRCh38]
Chr14:65268135..65268154 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.203T>C (p.Leu68Pro) |
single nucleotide variant |
not provided [RCV002465965] |
Chr14:64805036 [GRCh38]
Chr14:65271754 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.951G>A (p.Trp317Ter) |
single nucleotide variant |
not provided [RCV002465972] |
Chr14:64799860 [GRCh38]
Chr14:65266578 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4266+296A>G |
single nucleotide variant |
not provided [RCV001657042] |
Chr14:64781994 [GRCh38]
Chr14:65248712 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4564-158C>G |
single nucleotide variant |
not provided [RCV001608398] |
Chr14:64775561 [GRCh38]
Chr14:65242279 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4002+26T>C |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001810184]|not provided [RCV001656096] |
Chr14:64784221 [GRCh38]
Chr14:65250939 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.-51-115T>C |
single nucleotide variant |
not provided [RCV001696164] |
Chr14:64823260 [GRCh38]
Chr14:65289978 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.300+255G>A |
single nucleotide variant |
not provided [RCV001656126] |
Chr14:64804684 [GRCh38]
Chr14:65271402 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.764-24dup |
duplication |
not provided [RCV001540392] |
Chr14:64800891..64800892 [GRCh38]
Chr14:65267609..65267610 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4473+131C>G |
single nucleotide variant |
not provided [RCV001678304] |
Chr14:64779594 [GRCh38]
Chr14:65246312 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4003-328C>T |
single nucleotide variant |
not provided [RCV001677269] |
Chr14:64782881 [GRCh38]
Chr14:65249599 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4474-178A>G |
single nucleotide variant |
not provided [RCV001658621] |
Chr14:64779424 [GRCh38]
Chr14:65246142 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.901_903del (p.Glu301del) |
deletion |
not specified [RCV001000873] |
Chr14:64799908..64799910 [GRCh38]
Chr14:65266626..65266628 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys) |
single nucleotide variant |
Elliptocytosis 3 [RCV001089553] |
Chr14:64767841 [GRCh38]
Chr14:65234559 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4453C>T (p.Arg1485Trp) |
single nucleotide variant |
not specified [RCV001001225] |
Chr14:64779745 [GRCh38]
Chr14:65246463 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6061G>C (p.Ala2021Pro) |
single nucleotide variant |
not provided [RCV001811591] |
Chr14:64767821 [GRCh38]
Chr14:65234539 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001257426]|not provided [RCV001811601]|not specified [RCV002249612] |
Chr14:64793144 [GRCh38]
Chr14:65259862 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.1791G>A (p.Gly597=) |
single nucleotide variant |
not specified [RCV001002401] |
Chr14:64794471 [GRCh38]
Chr14:65261189 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.6313T>G (p.Ser2105Ala) |
single nucleotide variant |
not specified [RCV001002502] |
Chr14:64766758 [GRCh38]
Chr14:65233476 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4002+137G>A |
single nucleotide variant |
not provided [RCV001650008] |
Chr14:64784110 [GRCh38]
Chr14:65250828 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.1342-68G>T |
single nucleotide variant |
not provided [RCV001609851] |
Chr14:64795707 [GRCh38]
Chr14:65262425 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4473+216G>T |
single nucleotide variant |
not provided [RCV001685196] |
Chr14:64779509 [GRCh38]
Chr14:65246227 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.2804+152_2804+153del |
deletion |
not provided [RCV001708012] |
Chr14:64791566..64791567 [GRCh38]
Chr14:65258284..65258285 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4474-47T>C |
single nucleotide variant |
not provided [RCV001691483] |
Chr14:64779293 [GRCh38]
Chr14:65246011 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.474+301T>C |
single nucleotide variant |
not provided [RCV001649425] |
Chr14:64803306 [GRCh38]
Chr14:65270024 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4473+93T>C |
single nucleotide variant |
not provided [RCV001695756] |
Chr14:64779632 [GRCh38]
Chr14:65246350 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002290981]|not provided [RCV001784539]|not specified [RCV001002577] |
Chr14:64779931 [GRCh38]
Chr14:65246649 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.154C>T (p.Arg52Trp) |
single nucleotide variant |
not provided [RCV001027528] |
Chr14:64805085 [GRCh38]
Chr14:65271803 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001089997] |
Chr14:64767763 [GRCh38]
Chr14:65234481 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1182+3A>G |
single nucleotide variant |
not provided [RCV003141925]|not specified [RCV001002144] |
Chr14:64797726 [GRCh38]
Chr14:65264444 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.155G>T (p.Arg52Leu) |
single nucleotide variant |
not provided [RCV003490005]|not specified [RCV001002390] |
Chr14:64805084 [GRCh38]
Chr14:65271802 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1122A>C (p.Arg374Ser) |
single nucleotide variant |
not specified [RCV001000816] |
Chr14:64797789 [GRCh38]
Chr14:65264507 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3409C>A (p.Leu1137Met) |
single nucleotide variant |
not specified [RCV001002421] |
Chr14:64786556 [GRCh38]
Chr14:65253274 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001262268]|not provided [RCV001812264] |
Chr14:64803668 [GRCh38]
Chr14:65270386 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3 |
copy number gain |
not provided [RCV001259780] |
Chr14:61409856..65742610 [GRCh37]
Chr14:14q23.1-23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.6173C>T (p.Thr2058Met) |
single nucleotide variant |
not provided [RCV001290762] |
Chr14:64767709 [GRCh38]
Chr14:65234427 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2804G>A (p.Arg935Lys) |
single nucleotide variant |
not provided [RCV001765507] |
Chr14:64791719 [GRCh38]
Chr14:65258437 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1342-7G>A |
single nucleotide variant |
not provided [RCV001812990] |
Chr14:64795646 [GRCh38]
Chr14:65262364 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6193T>G (p.Phe2065Val) |
single nucleotide variant |
not provided [RCV001810627] |
Chr14:64767689 [GRCh38]
Chr14:65234407 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4474-17C>T |
single nucleotide variant |
Elliptocytosis 3 [RCV002493512]|not provided [RCV001810597] |
Chr14:64779263 [GRCh38]
Chr14:65245981 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.5994G>A (p.Trp1998Ter) |
single nucleotide variant |
not provided [RCV002284334] |
Chr14:64769062 [GRCh38]
Chr14:65235780 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp) |
single nucleotide variant |
not provided [RCV001812430] |
Chr14:64803638 [GRCh38]
Chr14:65270356 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter) |
single nucleotide variant |
not provided [RCV001508365] |
Chr14:64775232 [GRCh38]
Chr14:65241950 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu) |
single nucleotide variant |
Elliptocytosis 3 [RCV001329813]|Hereditary spherocytosis type 2 [RCV002290996]|not provided [RCV003481074] |
Chr14:64782451 [GRCh38]
Chr14:65249169 [GRCh37]
Chr14:14q23.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.3029G>A (p.Arg1010His) |
single nucleotide variant |
not provided [RCV001810654] |
Chr14:64786936 [GRCh38]
Chr14:65253654 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.648-49G>A |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001807800] |
Chr14:64801449 [GRCh38]
Chr14:65268167 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4473+133T>C |
single nucleotide variant |
not provided [RCV001537548] |
Chr14:64779592 [GRCh38]
Chr14:65246310 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.3010G>A (p.Val1004Met) |
single nucleotide variant |
not provided [RCV001812280] |
Chr14:64786955 [GRCh38]
Chr14:65253673 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val) |
single nucleotide variant |
Hereditary spherocytosis [RCV001787287] |
Chr14:64779200 [GRCh38]
Chr14:65245918 [GRCh37]
Chr14:14q23.3 |
not provided |
| NM_001355436.2(SPTB):c.774G>A (p.Thr258=) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001329817]|not provided [RCV002261340] |
Chr14:64800858 [GRCh38]
Chr14:65267576 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.1767dup (p.Ala590fs) |
duplication |
none provided [RCV001287492] |
Chr14:64794494..64794495 [GRCh38]
Chr14:65261212..65261213 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.301-18G>A |
single nucleotide variant |
not provided [RCV001812289] |
Chr14:64803798 [GRCh38]
Chr14:65270516 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser) |
single nucleotide variant |
Elliptocytosis 3 [RCV001336807]|not provided [RCV001810559] |
Chr14:64800761 [GRCh38]
Chr14:65267479 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6846C>T (p.Gly2282=) |
single nucleotide variant |
SPTB-related condition [RCV003945961]|not provided [RCV001810577] |
Chr14:64749447 [GRCh38]
Chr14:65216165 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4891C>T (p.Arg1631Cys) |
single nucleotide variant |
not provided [RCV001810679] |
Chr14:64774479 [GRCh38]
Chr14:65241197 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2539del (p.Ala847fs) |
deletion |
not provided [RCV001290763] |
Chr14:64793124 [GRCh38]
Chr14:65259842 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2431G>A (p.Glu811Lys) |
single nucleotide variant |
not provided [RCV001356684] |
Chr14:64793232 [GRCh38]
Chr14:65259950 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5650G>A (p.Ala1884Thr) |
single nucleotide variant |
not provided [RCV001297481] |
Chr14:64771033 [GRCh38]
Chr14:65237751 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5124A>G (p.Glu1708=) |
single nucleotide variant |
not provided [RCV001311016] |
Chr14:64773274 [GRCh38]
Chr14:65239992 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly) |
single nucleotide variant |
Elliptocytosis 3 [RCV001329816] |
Chr14:64767701 [GRCh38]
Chr14:65234419 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter) |
single nucleotide variant |
SPTB-related condition [RCV003908497]|not provided [RCV001812372] |
Chr14:64805031 [GRCh38]
Chr14:65271749 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.5267G>T (p.Arg1756Leu) |
single nucleotide variant |
not provided [RCV001813118] |
Chr14:64772866 [GRCh38]
Chr14:65239584 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4767C>G (p.Tyr1589Ter) |
single nucleotide variant |
not provided [RCV001813125] |
Chr14:64775200 [GRCh38]
Chr14:65241918 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5185C>G (p.Arg1729Gly) |
single nucleotide variant |
not provided [RCV001812432] |
Chr14:64772948 [GRCh38]
Chr14:65239666 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4273G>A (p.Glu1425Lys) |
single nucleotide variant |
not provided [RCV001812506] |
Chr14:64779925 [GRCh38]
Chr14:65246643 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys) |
single nucleotide variant |
not provided [RCV001812968] |
Chr14:64799829 [GRCh38]
Chr14:65266547 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.6499G>A (p.Ala2167Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003166624]|not provided [RCV001810662] |
Chr14:64753640 [GRCh38]
Chr14:65220358 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.6399T>C (p.Gly2133=) |
single nucleotide variant |
not provided [RCV001810711] |
Chr14:64753740 [GRCh38]
Chr14:65220458 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4474-1G>A |
single nucleotide variant |
not provided [RCV001507837] |
Chr14:64779247 [GRCh38]
Chr14:65245965 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3016G>A (p.Ala1006Thr) |
single nucleotide variant |
not provided [RCV001507850] |
Chr14:64786949 [GRCh38]
Chr14:65253667 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.566+1G>A |
single nucleotide variant |
not provided [RCV001311358] |
Chr14:64802225 [GRCh38]
Chr14:65268943 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001308147.2(PLEKHG3):c.*5777G>A |
single nucleotide variant |
not provided [RCV001508354] |
Chr14:64749480 [GRCh38]
Chr14:65216198 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5692C>T (p.Gln1898Ter) |
single nucleotide variant |
not provided [RCV001508361] |
Chr14:64770991 [GRCh38]
Chr14:65237709 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001534600]|not provided [RCV001507846] |
Chr14:64784313 [GRCh38]
Chr14:65251031 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.1027G>A (p.Ala343Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002567996]|not provided [RCV001508733] |
Chr14:64799784 [GRCh38]
Chr14:65266502 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.325C>T (p.Arg109Cys) |
single nucleotide variant |
not provided [RCV001508737] |
Chr14:64803756 [GRCh38]
Chr14:65270474 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6865G>A (p.Glu2289Lys) |
single nucleotide variant |
not provided [RCV001508353] |
Chr14:64749428 [GRCh38]
Chr14:65216146 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003333161]|SPTB-related condition [RCV003399263]|not provided [RCV001508357] |
Chr14:64767814 [GRCh38]
Chr14:65234532 [GRCh37]
Chr14:14q23.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.742dup (p.Ile248fs) |
duplication |
not provided [RCV001508734] |
Chr14:64801305..64801306 [GRCh38]
Chr14:65268023..65268024 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.724G>T (p.Glu242Ter) |
single nucleotide variant |
not provided [RCV001508735] |
Chr14:64801324 [GRCh38]
Chr14:65268042 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.542T>A (p.Leu181Ter) |
single nucleotide variant |
not provided [RCV001508736] |
Chr14:64802250 [GRCh38]
Chr14:65268968 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 |
copy number gain |
14q22.2q24.3 duplication [RCV001506967] |
Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln) |
single nucleotide variant |
Elliptocytosis 3 [RCV002250866]|not provided [RCV003130697] |
Chr14:64767349 [GRCh38]
Chr14:65234067 [GRCh37]
Chr14:14q23.3 |
likely pathogenic|uncertain significance |
| NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter) |
single nucleotide variant |
not provided [RCV001507841] |
Chr14:64779907 [GRCh38]
Chr14:65246625 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.3838del (p.Leu1280fs) |
deletion |
not provided [RCV001507848] |
Chr14:64785554 [GRCh38]
Chr14:65252272 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.6017G>T (p.Arg2006Leu) |
single nucleotide variant |
not provided [RCV001508359] |
Chr14:64769039 [GRCh38]
Chr14:65235757 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3980_3983delinsCCAGAGAACATGAA (p.Gly1327fs) |
indel |
not provided [RCV001449915] |
Chr14:64784266..64784269 [GRCh38]
Chr14:65250984..65250987 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.6392C>T (p.Pro2131Leu) |
single nucleotide variant |
not provided [RCV001508355] |
Chr14:64753747 [GRCh38]
Chr14:65220465 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6070T>A (p.Trp2024Arg) |
single nucleotide variant |
not provided [RCV001508356] |
Chr14:64767812 [GRCh38]
Chr14:65234530 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4564-9T>G |
single nucleotide variant |
not provided [RCV001507836] |
Chr14:64775412 [GRCh38]
Chr14:65242130 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4385A>G (p.Asp1462Gly) |
single nucleotide variant |
not provided [RCV001507838] |
Chr14:64779813 [GRCh38]
Chr14:65246531 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4355C>T (p.Ala1452Val) |
single nucleotide variant |
not provided [RCV001507839] |
Chr14:64779843 [GRCh38]
Chr14:65246561 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4117C>G (p.Gln1373Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002564216]|not provided [RCV001507843] |
Chr14:64782439 [GRCh38]
Chr14:65249157 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4002+23G>A |
single nucleotide variant |
not provided [RCV001507845] |
Chr14:64784224 [GRCh38]
Chr14:65250942 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1912C>T (p.Arg638Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003326582]|not provided [RCV001508729] |
Chr14:64793751 [GRCh38]
Chr14:65260469 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1342-10G>A |
single nucleotide variant |
not provided [RCV001508731] |
Chr14:64795649 [GRCh38]
Chr14:65262367 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2912C>T (p.Thr971Met) |
single nucleotide variant |
not provided [RCV001508725] |
Chr14:64787053 [GRCh38]
Chr14:65253771 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5750C>T (p.Ser1917Phe) |
single nucleotide variant |
SPTB-related condition [RCV003931037]|not provided [RCV001508360] |
Chr14:64770933 [GRCh38]
Chr14:65237651 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.1396dup (p.Ala466fs) |
duplication |
not provided [RCV001508730] |
Chr14:64795584..64795585 [GRCh38]
Chr14:65262302..65262303 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1153G>A (p.Asp385Asn) |
single nucleotide variant |
not provided [RCV001508732] |
Chr14:64797758 [GRCh38]
Chr14:65264476 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4474-76C>T |
single nucleotide variant |
not provided [RCV001714237] |
Chr14:64779322 [GRCh38]
Chr14:65246040 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.6025C>T (p.Leu2009=) |
single nucleotide variant |
not provided [RCV001508358] |
Chr14:64767857 [GRCh38]
Chr14:65234575 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2480G>A (p.Arg827Gln) |
single nucleotide variant |
SPTB-related condition [RCV003940885]|not provided [RCV001508727] |
Chr14:64793183 [GRCh38]
Chr14:65259901 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.1932G>A (p.Trp644Ter) |
single nucleotide variant |
not provided [RCV001508728] |
Chr14:64793731 [GRCh38]
Chr14:65260449 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.220C>T (p.Arg74Cys) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003339660]|not provided [RCV001508738] |
Chr14:64805019 [GRCh38]
Chr14:65271737 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.40C>T (p.Pro14Ser) |
single nucleotide variant |
SPTB-related condition [RCV003968521]|not provided [RCV001726916] |
Chr14:64823055 [GRCh38]
Chr14:65289773 [GRCh37]
Chr14:14q23.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.4033C>T (p.Gln1345Ter) |
single nucleotide variant |
not provided [RCV001783803] |
Chr14:64782523 [GRCh38]
Chr14:65249241 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1249C>T (p.Gln417Ter) |
single nucleotide variant |
not provided [RCV001783804] |
Chr14:64796649 [GRCh38]
Chr14:65263367 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.6224A>G (p.Glu2075Gly) |
single nucleotide variant |
not provided [RCV001783806] |
Chr14:64767348 [GRCh38]
Chr14:65234066 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.4399del (p.Pro1466_Leu1467insTer) |
deletion |
not provided [RCV001783812] |
Chr14:64779799 [GRCh38]
Chr14:65246517 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1801C>T (p.Gln601Ter) |
single nucleotide variant |
not provided [RCV001783814] |
Chr14:64793862 [GRCh38]
Chr14:65260580 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2952dup (p.Arg985fs) |
duplication |
not provided [RCV001783809] |
Chr14:64787012..64787013 [GRCh38]
Chr14:65253730..65253731 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.136_137insT (p.Lys46fs) |
insertion |
not provided [RCV001783811] |
Chr14:64822958..64822959 [GRCh38]
Chr14:65289676..65289677 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.648-2A>G |
single nucleotide variant |
not provided [RCV001783815] |
Chr14:64801402 [GRCh38]
Chr14:65268120 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5422G>A (p.Glu1808Lys) |
single nucleotide variant |
not provided [RCV001774273] |
Chr14:64772711 [GRCh38]
Chr14:65239429 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3 |
copy number gain |
See cases [RCV002285053] |
Chr14:64016496..65834490 [GRCh37]
Chr14:14q23.2-23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3203A>G (p.Gln1068Arg) |
single nucleotide variant |
not provided [RCV001768521] |
Chr14:64786762 [GRCh38]
Chr14:65253480 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3935G>A (p.Trp1312Ter) |
single nucleotide variant |
not provided [RCV001783813] |
Chr14:64784314 [GRCh38]
Chr14:65251032 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4921A>G (p.Lys1641Glu) |
single nucleotide variant |
not provided [RCV001763509] |
Chr14:64774449 [GRCh38]
Chr14:65241167 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4892G>A (p.Arg1631His) |
single nucleotide variant |
not provided [RCV001757833] |
Chr14:64774478 [GRCh38]
Chr14:65241196 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3791del (p.Gln1264fs) |
deletion |
not provided [RCV001783805] |
Chr14:64785601 [GRCh38]
Chr14:65252319 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4540C>T (p.Gln1514Ter) |
single nucleotide variant |
not provided [RCV001783807] |
Chr14:64779180 [GRCh38]
Chr14:65245898 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1972dup (p.Gln658fs) |
duplication |
not provided [RCV001783808] |
Chr14:64793690..64793691 [GRCh38]
Chr14:65260408..65260409 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5243_5244insAA (p.Asp1748fs) |
insertion |
not provided [RCV001783810] |
Chr14:64772889..64772890 [GRCh38]
Chr14:65239607..65239608 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4305G>T (p.Leu1435=) |
single nucleotide variant |
not provided [RCV001811695] |
Chr14:64779893 [GRCh38]
Chr14:65246611 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6220-16C>A |
single nucleotide variant |
not provided [RCV001811790] |
Chr14:64767368 [GRCh38]
Chr14:65234086 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.281dup (p.Leu95fs) |
duplication |
not provided [RCV001812571] |
Chr14:64804957..64804958 [GRCh38]
Chr14:65271675..65271676 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5494G>T (p.Glu1832Ter) |
single nucleotide variant |
not provided [RCV001812594] |
Chr14:64772639 [GRCh38]
Chr14:65239357 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2500del (p.Val834fs) |
deletion |
not provided [RCV001816142] |
Chr14:64793163 [GRCh38]
Chr14:65259881 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4574A>G (p.Asn1525Ser) |
single nucleotide variant |
not provided [RCV001810807] |
Chr14:64775393 [GRCh38]
Chr14:65242111 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1261G>C (p.Glu421Gln) |
single nucleotide variant |
not provided [RCV001811721] |
Chr14:64796637 [GRCh38]
Chr14:65263355 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2435A>C (p.Glu812Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002541364]|not provided [RCV001811853] |
Chr14:64793228 [GRCh38]
Chr14:65259946 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.6346-13dup |
duplication |
SPTB-related condition [RCV003931340]|not provided [RCV001811877] |
Chr14:64753805..64753806 [GRCh38]
Chr14:65220523..65220524 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.5279C>T (p.Ala1760Val) |
single nucleotide variant |
not provided [RCV001811932] |
Chr14:64772854 [GRCh38]
Chr14:65239572 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001355436.2(SPTB):c.1530G>A (p.Trp510Ter) |
single nucleotide variant |
not provided [RCV001812536] |
Chr14:64795451 [GRCh38]
Chr14:65262169 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.6345+19T>A |
single nucleotide variant |
not provided [RCV001812545] |
Chr14:64766707 [GRCh38]
Chr14:65233425 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001355436.2(SPTB):c.5036C>T (p.Ala1679Val) |
single nucleotide variant |
not provided [RCV001812552] |
Chr14:64773362 [GRCh38]
Chr14:65240080 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5863C>T (p.Arg1955Trp) |
single nucleotide variant |
not provided [RCV001812580] |
Chr14:64769664 [GRCh38]
Chr14:65236382 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4147C>A (p.Leu1383Met) |
single nucleotide variant |
not provided [RCV001812617] |
Chr14:64782409 [GRCh38]
Chr14:65249127 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5528_5535del (p.Arg1843fs) |
deletion |
not provided [RCV001811893] |
Chr14:64772598..64772605 [GRCh38]
Chr14:65239316..65239323 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.300+23C>T |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001807801] |
Chr14:64804916 [GRCh38]
Chr14:65271634 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.3395C>T (p.Thr1132Met) |
single nucleotide variant |
not provided [RCV001810792] |
Chr14:64786570 [GRCh38]
Chr14:65253288 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5737C>T (p.Arg1913Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003247027]|not provided [RCV001810773] |
Chr14:64770946 [GRCh38]
Chr14:65237664 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5726T>C (p.Phe1909Ser) |
single nucleotide variant |
not provided [RCV001810799] |
Chr14:64770957 [GRCh38]
Chr14:65237675 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2804+15G>A |
single nucleotide variant |
not provided [RCV001810785] |
Chr14:64791704 [GRCh38]
Chr14:65258422 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.5222C>T (p.Ala1741Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002542342]|not provided [RCV001811929] |
Chr14:64772911 [GRCh38]
Chr14:65239629 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1773C>G (p.Thr591=) |
single nucleotide variant |
not provided [RCV001811919] |
Chr14:64794489 [GRCh38]
Chr14:65261207 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.6045G>A (p.Ser2015=) |
single nucleotide variant |
not provided [RCV001811698] |
Chr14:64767837 [GRCh38]
Chr14:65234555 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.475-3C>G |
single nucleotide variant |
not provided [RCV001811757] |
Chr14:64802320 [GRCh38]
Chr14:65269038 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1182+2T>C |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001805745] |
Chr14:64797727 [GRCh38]
Chr14:65264445 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs) |
microsatellite |
not provided [RCV001811777] |
Chr14:64767762..64767763 [GRCh38]
Chr14:65234480..65234481 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.1182_1182+9del |
deletion |
not provided [RCV001811800] |
Chr14:64797720..64797729 [GRCh38]
Chr14:65264438..65264447 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4407_4410del (p.Lys1471fs) |
deletion |
not provided [RCV001811866] |
Chr14:64779788..64779791 [GRCh38]
Chr14:65246506..65246509 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3622C>T (p.Arg1208Trp) |
single nucleotide variant |
not provided [RCV001811914] |
Chr14:64785891 [GRCh38]
Chr14:65252609 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3747G>A (p.Val1249=) |
single nucleotide variant |
not provided [RCV001811887] |
Chr14:64785766 [GRCh38]
Chr14:65252484 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6361A>G (p.Thr2121Ala) |
single nucleotide variant |
not provided [RCV001811939] |
Chr14:64753778 [GRCh38]
Chr14:65220496 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.566+5_566+6del |
deletion |
not provided [RCV002045771] |
Chr14:64802220..64802221 [GRCh38]
Chr14:65268938..65268939 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5329G>T (p.Glu1777Ter) |
single nucleotide variant |
not provided [RCV001912032] |
Chr14:64772804 [GRCh38]
Chr14:65239522 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3818_3832delinsGT (p.Asn1273fs) |
indel |
Elliptocytosis 3 [RCV001824279] |
Chr14:64785560..64785574 [GRCh38]
Chr14:65252278..65252292 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NC_000014.8:g.(?_64746679)_(66975329_?)del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002007295] |
Chr14:64746679..66975329 [GRCh37]
Chr14:14q23.2-23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3850C>T (p.Gln1284Ter) |
single nucleotide variant |
not provided [RCV001871333] |
Chr14:64785542 [GRCh38]
Chr14:65252260 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.543GTG[1] (p.Trp182del) |
microsatellite |
not provided [RCV002044492] |
Chr14:64802244..64802246 [GRCh38]
Chr14:65268962..65268964 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3877A>T (p.Lys1293Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV001822889] |
Chr14:64784372 [GRCh38]
Chr14:65251090 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2782_2783dup (p.Gln929fs) |
duplication |
not provided [RCV002007347] |
Chr14:64791739..64791740 [GRCh38]
Chr14:65258457..65258458 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2881G>C (p.Val961Leu) |
single nucleotide variant |
SPTB-related condition [RCV003407969]|not provided [RCV001938760] |
Chr14:64787084 [GRCh38]
Chr14:65253802 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5038G>T (p.Glu1680Ter) |
single nucleotide variant |
not provided [RCV001941949] |
Chr14:64773360 [GRCh38]
Chr14:65240078 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1510del (p.Asp504fs) |
deletion |
not provided [RCV001982294] |
Chr14:64795471 [GRCh38]
Chr14:65262189 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5898C>T (p.Gly1966=) |
single nucleotide variant |
not provided [RCV001888240] |
Chr14:64769629 [GRCh38]
Chr14:65236347 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.2274G>A (p.Trp758Ter) |
single nucleotide variant |
not provided [RCV001930371] |
Chr14:64793389 [GRCh38]
Chr14:65260107 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2143G>A (p.Glu715Lys) |
single nucleotide variant |
not provided [RCV001870160] |
Chr14:64793520 [GRCh38]
Chr14:65260238 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.404C>A (p.Ser135Tyr) |
single nucleotide variant |
not provided [RCV001870385] |
Chr14:64803677 [GRCh38]
Chr14:65270395 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291006]|SPTB-related condition [RCV003948842]|not provided [RCV001994865] |
Chr14:64774497 [GRCh38]
Chr14:65241215 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.629C>A (p.Ala210Asp) |
single nucleotide variant |
not provided [RCV001875244] |
Chr14:64801772 [GRCh38]
Chr14:65268490 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NC_000014.8:g.(?_65270305)_(65271828_?)del |
deletion |
not provided [RCV001972422] |
Chr14:65270305..65271828 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.301-17C>T |
single nucleotide variant |
not provided [RCV002090556] |
Chr14:64803797 [GRCh38]
Chr14:65270515 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3764+9G>A |
single nucleotide variant |
Elliptocytosis 3 [RCV002505888]|not provided [RCV002227305] |
Chr14:64785740 [GRCh38]
Chr14:65252458 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.5738G>A (p.Arg1913His) |
single nucleotide variant |
Inborn genetic diseases [RCV003089045]|not provided [RCV002191880] |
Chr14:64770945 [GRCh38]
Chr14:65237663 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.877-19T>G |
single nucleotide variant |
not provided [RCV002106759] |
Chr14:64799953 [GRCh38]
Chr14:65266671 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.870C>T (p.Val290=) |
single nucleotide variant |
not provided [RCV002196348] |
Chr14:64800762 [GRCh38]
Chr14:65267480 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.183G>A (p.Thr61=) |
single nucleotide variant |
not provided [RCV002131501] |
Chr14:64805056 [GRCh38]
Chr14:65271774 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4973+8del |
deletion |
not provided [RCV002115900] |
Chr14:64774389 [GRCh38]
Chr14:65241107 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.5553+15dup |
duplication |
not provided [RCV002194537] |
Chr14:64772564..64772565 [GRCh38]
Chr14:65239282..65239283 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.2670C>T (p.Phe890=) |
single nucleotide variant |
not provided [RCV002175316] |
Chr14:64791853 [GRCh38]
Chr14:65258571 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2368G>T (p.Glu790Ter) |
single nucleotide variant |
not provided [RCV002222315] |
Chr14:64793295 [GRCh38]
Chr14:65260013 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5944G>A (p.Glu1982Lys) |
single nucleotide variant |
not provided [RCV002135527] |
Chr14:64769112 [GRCh38]
Chr14:65235830 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.1023G>T (p.Leu341=) |
single nucleotide variant |
not provided [RCV002136484] |
Chr14:64799788 [GRCh38]
Chr14:65266506 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.102C>T (p.Asn34=) |
single nucleotide variant |
not provided [RCV002144346] |
Chr14:64822993 [GRCh38]
Chr14:65289711 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.2639T>A (p.Leu880Gln) |
single nucleotide variant |
not provided [RCV002103282] |
Chr14:64793024 [GRCh38]
Chr14:65259742 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2059C>T (p.Arg687Cys) |
single nucleotide variant |
not provided [RCV003120261] |
Chr14:64793604 [GRCh38]
Chr14:65260322 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4934G>A (p.Ser1645Asn) |
single nucleotide variant |
not provided [RCV003120273] |
Chr14:64774436 [GRCh38]
Chr14:65241154 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001308147.2(PLEKHG3):c.*5935G>C |
single nucleotide variant |
not provided [RCV003120290] |
Chr14:64749638 [GRCh38]
Chr14:65216356 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3778A>T (p.Asn1260Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003269542]|not provided [RCV003120303] |
Chr14:64785614 [GRCh38]
Chr14:65252332 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.1796-1G>C |
single nucleotide variant |
not provided [RCV003120310] |
Chr14:64793868 [GRCh38]
Chr14:65260586 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2175G>A (p.Trp725Ter) |
single nucleotide variant |
not provided [RCV003120314] |
Chr14:64793488 [GRCh38]
Chr14:65260206 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2805-5G>A |
single nucleotide variant |
not provided [RCV003120327] |
Chr14:64787165 [GRCh38]
Chr14:65253883 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.1342-11C>T |
single nucleotide variant |
not provided [RCV003120330] |
Chr14:64795650 [GRCh38]
Chr14:65262368 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.1004C>T (p.Thr335Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003269543]|not provided [RCV003120348] |
Chr14:64799807 [GRCh38]
Chr14:65266525 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.3764+8C>T |
single nucleotide variant |
Elliptocytosis 3 [RCV002244084] |
Chr14:64785741 [GRCh38]
Chr14:65252459 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5941del (p.Arg1981fs) |
deletion |
not provided [RCV002227349] |
Chr14:64769115 [GRCh38]
Chr14:65235833 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5680G>A (p.Gly1894Arg) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002279887] |
Chr14:64771003 [GRCh38]
Chr14:65237721 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.301-22G>A |
single nucleotide variant |
not provided [RCV002261487] |
Chr14:64803802 [GRCh38]
Chr14:65270520 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6396_6398dup (p.Gly2133_Gln2134insGly) |
duplication |
not provided [RCV002261970] |
Chr14:64753740..64753741 [GRCh38]
Chr14:65220458..65220459 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5652G>A (p.Ala1884=) |
single nucleotide variant |
not provided [RCV002261972] |
Chr14:64771031 [GRCh38]
Chr14:65237749 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.6059_6060del (p.Val2020fs) |
microsatellite |
Hereditary spherocytosis type 2 [RCV002291035] |
Chr14:64767822..64767823 [GRCh38]
Chr14:65234540..65234541 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3351C>A (p.Tyr1117Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291040] |
Chr14:64786614 [GRCh38]
Chr14:65253332 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.85G>T (p.Glu29Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291049]|not provided [RCV003688951] |
Chr14:64823010 [GRCh38]
Chr14:65289728 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4969G>T (p.Glu1657Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291053] |
Chr14:64774401 [GRCh38]
Chr14:65241119 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1591C>T (p.Gln531Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291055] |
Chr14:64795390 [GRCh38]
Chr14:65262108 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2521C>T (p.Gln841Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291056] |
Chr14:64793142 [GRCh38]
Chr14:65259860 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.146C>T (p.Ala49Val) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291032] |
Chr14:64822949 [GRCh38]
Chr14:65289667 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.493C>T (p.Gln165Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291034] |
Chr14:64802299 [GRCh38]
Chr14:65269017 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2423del (p.Gly808fs) |
deletion |
Hereditary spherocytosis type 2 [RCV002291037] |
Chr14:64793240 [GRCh38]
Chr14:65259958 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2092del (p.Gln698fs) |
deletion |
Hereditary spherocytosis type 2 [RCV002291039] |
Chr14:64793571 [GRCh38]
Chr14:65260289 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5737dup (p.Arg1913fs) |
duplication |
Hereditary spherocytosis type 2 [RCV002291045] |
Chr14:64770945..64770946 [GRCh38]
Chr14:65237663..65237664 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2165C>A (p.Ser722Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291051] |
Chr14:64793498 [GRCh38]
Chr14:65260216 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.151G>T (p.Glu51Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291059] |
Chr14:64805088 [GRCh38]
Chr14:65271806 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1908del (p.Lys637fs) |
deletion |
Hereditary spherocytosis type 2 [RCV002283735] |
Chr14:64793755 [GRCh38]
Chr14:65260473 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.6496C>G (p.Pro2166Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003101466]|SPTB-related condition [RCV003916417]|not provided [RCV002261969] |
Chr14:64753643 [GRCh38]
Chr14:65220361 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.6053C>A (p.Ala2018Asp) |
single nucleotide variant |
not provided [RCV002261971] |
Chr14:64767829 [GRCh38]
Chr14:65234547 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.430C>T (p.Arg144Cys) |
single nucleotide variant |
not provided [RCV002261486] |
Chr14:64803651 [GRCh38]
Chr14:65270369 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.238A>G (p.Lys80Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003365720]|not provided [RCV002261488] |
Chr14:64805001 [GRCh38]
Chr14:65271719 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5114G>A (p.Trp1705Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002287289] |
Chr14:64773284 [GRCh38]
Chr14:65240002 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5178+1G>A |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002290397] |
Chr14:64773219 [GRCh38]
Chr14:65239937 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5464G>T (p.Glu1822Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291036] |
Chr14:64772669 [GRCh38]
Chr14:65239387 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.472C>T (p.Gln158Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291038]|not provided [RCV003130693] |
Chr14:64803609 [GRCh38]
Chr14:65270327 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.6536_6537del (p.Val2179fs) |
microsatellite |
Hereditary spherocytosis type 2 [RCV002291042] |
Chr14:64753602..64753603 [GRCh38]
Chr14:65220320..65220321 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1630dup (p.Met544fs) |
duplication |
Hereditary spherocytosis type 2 [RCV002291044] |
Chr14:64795350..64795351 [GRCh38]
Chr14:65262068..65262069 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.999_1000del (p.Leu334fs) |
deletion |
Hereditary spherocytosis type 2 [RCV002291047] |
Chr14:64799811..64799812 [GRCh38]
Chr14:65266529..65266530 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3986_4001del (p.Leu1329fs) |
deletion |
Hereditary spherocytosis type 2 [RCV002291050] |
Chr14:64784248..64784263 [GRCh38]
Chr14:65250966..65250981 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5099del (p.Asp1700fs) |
deletion |
Hereditary spherocytosis type 2 [RCV002291052] |
Chr14:64773299 [GRCh38]
Chr14:65240017 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4942C>T (p.Gln1648Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291054] |
Chr14:64774428 [GRCh38]
Chr14:65241146 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3855+1G>A |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291057] |
Chr14:64785536 [GRCh38]
Chr14:65252254 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5788G>T (p.Glu1930Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291060] |
Chr14:64770895 [GRCh38]
Chr14:65237613 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.754G>A (p.Asp252Asn) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291103] |
Chr14:64801294 [GRCh38]
Chr14:65268012 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2239C>T (p.Gln747Ter) |
single nucleotide variant |
See cases [RCV002287648]|not provided [RCV003679091] |
Chr14:64793424 [GRCh38]
Chr14:65260142 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3841C>T (p.Gln1281Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291033] |
Chr14:64785551 [GRCh38]
Chr14:65252269 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.467G>C (p.Arg156Pro) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291041] |
Chr14:64803614 [GRCh38]
Chr14:65270332 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4368del (p.Ile1456fs) |
deletion |
Hereditary spherocytosis type 2 [RCV002291061] |
Chr14:64779830 [GRCh38]
Chr14:65246548 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 |
copy number gain |
See cases [RCV002286356] |
Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33 |
pathogenic |
| NM_001355436.2(SPTB):c.2659C>T (p.Gln887Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291043] |
Chr14:64793004 [GRCh38]
Chr14:65259722 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4417C>T (p.Gln1473Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002291046] |
Chr14:64779781 [GRCh38]
Chr14:65246499 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3478C>T (p.Arg1160Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003365719]|not provided [RCV002261484] |
Chr14:64786487 [GRCh38]
Chr14:65253205 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2458A>G (p.Thr820Ala) |
single nucleotide variant |
not provided [RCV002261485] |
Chr14:64793205 [GRCh38]
Chr14:65259923 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3855G>A (p.Glu1285=) |
single nucleotide variant |
not provided [RCV002261973] |
Chr14:64785537 [GRCh38]
Chr14:65252255 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.474+1G>A |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV002283831]|not provided [RCV003491068] |
Chr14:64803606 [GRCh38]
Chr14:65270324 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5734G>A (p.Ala1912Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003262707] |
Chr14:64770949 [GRCh38]
Chr14:65237667 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1740A>C (p.Gln580His) |
single nucleotide variant |
Inborn genetic diseases [RCV003287631] |
Chr14:64794522 [GRCh38]
Chr14:65261240 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3649A>G (p.Met1217Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002682455]|not provided [RCV003738303] |
Chr14:64785864 [GRCh38]
Chr14:65252582 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.173dup (p.Thr59fs) |
duplication |
not provided [RCV002465971] |
Chr14:64805065..64805066 [GRCh38]
Chr14:65271783..65271784 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.300+2T>C |
single nucleotide variant |
not provided [RCV003131647] |
Chr14:64804937 [GRCh38]
Chr14:65271655 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.439del (p.Leu147fs) |
deletion |
not provided [RCV003131653] |
Chr14:64803642 [GRCh38]
Chr14:65270360 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3731A>C (p.Lys1244Thr) |
single nucleotide variant |
not provided [RCV002304109] |
Chr14:64785782 [GRCh38]
Chr14:65252500 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5350G>A (p.Glu1784Lys) |
single nucleotide variant |
not provided [RCV002304840] |
Chr14:64772783 [GRCh38]
Chr14:65239501 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3800C>G (p.Ser1267Cys) |
single nucleotide variant |
not provided [RCV002301307] |
Chr14:64785592 [GRCh38]
Chr14:65252310 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1886G>A (p.Arg629Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002772984] |
Chr14:64793777 [GRCh38]
Chr14:65260495 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6037C>T (p.Gln2013Ter) |
single nucleotide variant |
not provided [RCV002903247] |
Chr14:64767845 [GRCh38]
Chr14:65234563 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.300+3A>G |
single nucleotide variant |
not provided [RCV002881197] |
Chr14:64804936 [GRCh38]
Chr14:65271654 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4805A>G (p.Glu1602Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002772252] |
Chr14:64775162 [GRCh38]
Chr14:65241880 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6559C>T (p.Arg2187Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002817005] |
Chr14:64753580 [GRCh38]
Chr14:65220298 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2142C>G (p.Ile714Met) |
single nucleotide variant |
not provided [RCV002904376] |
Chr14:64793521 [GRCh38]
Chr14:65260239 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.85G>A (p.Glu29Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002860728] |
Chr14:64823010 [GRCh38]
Chr14:65289728 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2186A>G (p.Lys729Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002883775] |
Chr14:64793477 [GRCh38]
Chr14:65260195 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.219C>A (p.Cys73Ter) |
single nucleotide variant |
not provided [RCV002819996] |
Chr14:64805020 [GRCh38]
Chr14:65271738 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5708C>T (p.Ala1903Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002902298]|not provided [RCV003111710] |
Chr14:64770975 [GRCh38]
Chr14:65237693 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4643C>T (p.Ala1548Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002992988] |
Chr14:64775324 [GRCh38]
Chr14:65242042 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2987A>G (p.Lys996Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002818386] |
Chr14:64786978 [GRCh38]
Chr14:65253696 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4268G>A (p.Arg1423Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002774425] |
Chr14:64779930 [GRCh38]
Chr14:65246648 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.189G>A (p.Trp63Ter) |
single nucleotide variant |
not provided [RCV002816415] |
Chr14:64805050 [GRCh38]
Chr14:65271768 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.6001C>T (p.Arg2001Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002753342] |
Chr14:64769055 [GRCh38]
Chr14:65235773 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3661C>T (p.Arg1221Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002683491] |
Chr14:64785852 [GRCh38]
Chr14:65252570 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5263G>A (p.Glu1755Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002683725] |
Chr14:64772870 [GRCh38]
Chr14:65239588 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6375C>A (p.Asn2125Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002793871] |
Chr14:64753764 [GRCh38]
Chr14:65220482 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1047C>T (p.Thr349=) |
single nucleotide variant |
not provided [RCV002971001] |
Chr14:64799764 [GRCh38]
Chr14:65266482 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2312del (p.Val771fs) |
deletion |
not provided [RCV002511781] |
Chr14:64793351 [GRCh38]
Chr14:65260069 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.6450G>T (p.Glu2150Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002991180] |
Chr14:64753689 [GRCh38]
Chr14:65220407 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2836C>T (p.Arg946Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002905345] |
Chr14:64787129 [GRCh38]
Chr14:65253847 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5255C>A (p.Ala1752Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002707806] |
Chr14:64772878 [GRCh38]
Chr14:65239596 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4550T>G (p.Met1517Arg) |
single nucleotide variant |
not provided [RCV002949374] |
Chr14:64779170 [GRCh38]
Chr14:65245888 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5178+18C>T |
single nucleotide variant |
not provided [RCV003002245] |
Chr14:64773202 [GRCh38]
Chr14:65239920 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2889C>A (p.Cys963Ter) |
single nucleotide variant |
not provided [RCV003055667] |
Chr14:64787076 [GRCh38]
Chr14:65253794 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.6017G>A (p.Arg2006His) |
single nucleotide variant |
Inborn genetic diseases [RCV002925945]|not provided [RCV003491286] |
Chr14:64769039 [GRCh38]
Chr14:65235757 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6880C>G (p.Arg2294Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002738418] |
Chr14:64749413 [GRCh38]
Chr14:65216131 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003388636]|Inborn genetic diseases [RCV002704937] |
Chr14:64795472 [GRCh38]
Chr14:65262190 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.929T>G (p.Leu310Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002737228] |
Chr14:64799882 [GRCh38]
Chr14:65266600 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3251T>C (p.Val1084Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002844235] |
Chr14:64786714 [GRCh38]
Chr14:65253432 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1350T>C (p.Phe450=) |
single nucleotide variant |
not provided [RCV002948574] |
Chr14:64795631 [GRCh38]
Chr14:65262349 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.2655C>T (p.Val885=) |
single nucleotide variant |
not provided [RCV003053299] |
Chr14:64793008 [GRCh38]
Chr14:65259726 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002976791]|not provided [RCV003140195] |
Chr14:64791827 [GRCh38]
Chr14:65258545 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.4479G>A (p.Trp1493Ter) |
single nucleotide variant |
not provided [RCV002999326] |
Chr14:64779241 [GRCh38]
Chr14:65245959 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3228G>T (p.Trp1076Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003080704]|not provided [RCV003080703] |
Chr14:64786737 [GRCh38]
Chr14:65253455 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3664G>T (p.Asp1222Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002949870] |
Chr14:64785849 [GRCh38]
Chr14:65252567 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5462C>T (p.Pro1821Leu) |
single nucleotide variant |
not provided [RCV002705385] |
Chr14:64772671 [GRCh38]
Chr14:65239389 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3709G>A (p.Glu1237Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002784339] |
Chr14:64785804 [GRCh38]
Chr14:65252522 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.197C>T (p.Ser66Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002738888] |
Chr14:64805042 [GRCh38]
Chr14:65271760 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3009C>T (p.Asp1003=) |
single nucleotide variant |
not provided [RCV002638212] |
Chr14:64786956 [GRCh38]
Chr14:65253674 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.1796-1G>A |
single nucleotide variant |
not provided [RCV002846928] |
Chr14:64793868 [GRCh38]
Chr14:65260586 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4369G>C (p.Glu1457Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002950609] |
Chr14:64779829 [GRCh38]
Chr14:65246547 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2805-1G>A |
single nucleotide variant |
not provided [RCV002867237] |
Chr14:64787161 [GRCh38]
Chr14:65253879 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2728G>A (p.Ala910Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002797649] |
Chr14:64791795 [GRCh38]
Chr14:65258513 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5689A>G (p.Thr1897Ala) |
single nucleotide variant |
not provided [RCV002913576] |
Chr14:64770994 [GRCh38]
Chr14:65237712 [GRCh37]
Chr14:14q23.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001355436.2(SPTB):c.1891G>T (p.Ala631Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002784338] |
Chr14:64793772 [GRCh38]
Chr14:65260490 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2839C>T (p.Arg947Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002660589] |
Chr14:64787126 [GRCh38]
Chr14:65253844 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4245T>A (p.Asn1415Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002802532] |
Chr14:64782311 [GRCh38]
Chr14:65249029 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4002+19C>T |
single nucleotide variant |
not provided [RCV002597386] |
Chr14:64784228 [GRCh38]
Chr14:65250946 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4164T>A (p.His1388Gln) |
single nucleotide variant |
not provided [RCV002700275] |
Chr14:64782392 [GRCh38]
Chr14:65249110 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1628G>A (p.Trp543Ter) |
single nucleotide variant |
not provided [RCV002508894] |
Chr14:64795353 [GRCh38]
Chr14:65262071 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3005G>A (p.Arg1002His) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003340656]|Inborn genetic diseases [RCV003004447] |
Chr14:64786960 [GRCh38]
Chr14:65253678 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2256G>A (p.Ala752=) |
single nucleotide variant |
SPTB-related condition [RCV003936504]|not provided [RCV003005171] |
Chr14:64793407 [GRCh38]
Chr14:65260125 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.4709G>A (p.Arg1570Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002917866]|not provided [RCV002917867] |
Chr14:64775258 [GRCh38]
Chr14:65241976 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.2951G>A (p.Gly984Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002849644] |
Chr14:64787014 [GRCh38]
Chr14:65253732 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1065-16T>G |
single nucleotide variant |
not provided [RCV002572219] |
Chr14:64797862 [GRCh38]
Chr14:65264580 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.320A>G (p.Lys107Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002929800]|not provided [RCV003491284] |
Chr14:64803761 [GRCh38]
Chr14:65270479 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1816C>T (p.Gln606Ter) |
single nucleotide variant |
not provided [RCV002642378] |
Chr14:64793847 [GRCh38]
Chr14:65260565 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4178del (p.Lys1393fs) |
deletion |
Hereditary spherocytosis type 2 [RCV002790007] |
Chr14:64782378 [GRCh38]
Chr14:65249096 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1658C>G (p.Ser553Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002697011] |
Chr14:64794604 [GRCh38]
Chr14:65261322 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2953C>T (p.Arg985Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002697915] |
Chr14:64787012 [GRCh38]
Chr14:65253730 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4955C>G (p.Ser1652Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002826835] |
Chr14:64774415 [GRCh38]
Chr14:65241133 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5138C>T (p.Ala1713Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002743025] |
Chr14:64773260 [GRCh38]
Chr14:65239978 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3071C>T (p.Ser1024Leu) |
single nucleotide variant |
not provided [RCV002572708] |
Chr14:64786894 [GRCh38]
Chr14:65253612 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2479C>T (p.Arg827Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002763839]|not provided [RCV003491312] |
Chr14:64793184 [GRCh38]
Chr14:65259902 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6010C>T (p.Arg2004Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002789182] |
Chr14:64769046 [GRCh38]
Chr14:65235764 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.422G>A (p.Gly141Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002719377] |
Chr14:64803659 [GRCh38]
Chr14:65270377 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3334G>A (p.Gly1112Arg) |
single nucleotide variant |
SPTB-related condition [RCV003926495]|not provided [RCV002900445] |
Chr14:64786631 [GRCh38]
Chr14:65253349 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.5173G>A (p.Val1725Met) |
single nucleotide variant |
not provided [RCV002967076] |
Chr14:64773225 [GRCh38]
Chr14:65239943 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3202C>A (p.Gln1068Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002934849] |
Chr14:64786763 [GRCh38]
Chr14:65253481 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.338T>C (p.Leu113Pro) |
single nucleotide variant |
not provided [RCV002967129] |
Chr14:64803743 [GRCh38]
Chr14:65270461 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.764-2A>G |
single nucleotide variant |
not provided [RCV003027127] |
Chr14:64800870 [GRCh38]
Chr14:65267588 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3712_3722del (p.Gly1238fs) |
deletion |
not provided [RCV002791770] |
Chr14:64785791..64785801 [GRCh38]
Chr14:65252509..65252519 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4453C>A (p.Arg1485=) |
single nucleotide variant |
not provided [RCV002647174] |
Chr14:64779745 [GRCh38]
Chr14:65246463 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1124C>T (p.Ala375Val) |
single nucleotide variant |
not provided [RCV002629222] |
Chr14:64797787 [GRCh38]
Chr14:65264505 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4497_4500dup (p.Ala1501fs) |
duplication |
not provided [RCV003046042] |
Chr14:64779219..64779220 [GRCh38]
Chr14:65245937..65245938 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3879G>A (p.Lys1293=) |
single nucleotide variant |
not provided [RCV002937843] |
Chr14:64784370 [GRCh38]
Chr14:65251088 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.925G>A (p.Gly309Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002703145]|not provided [RCV003561162] |
Chr14:64799886 [GRCh38]
Chr14:65266604 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.4595_4596insTCAACCCGGCC (p.Arg1533fs) |
insertion |
not provided [RCV003045374] |
Chr14:64775371..64775372 [GRCh38]
Chr14:65242089..65242090 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1979A>C (p.Tyr660Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002675108]|not provided [RCV003575024] |
Chr14:64793684 [GRCh38]
Chr14:65260402 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5402G>A (p.Arg1801His) |
single nucleotide variant |
not provided [RCV002600532] |
Chr14:64772731 [GRCh38]
Chr14:65239449 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3705_3706delinsGT (p.Ala1236Ser) |
indel |
not provided [RCV002791772] |
Chr14:64785807..64785808 [GRCh38]
Chr14:65252525..65252526 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1623C>T (p.Ile541=) |
single nucleotide variant |
not provided [RCV003011250] |
Chr14:64795358 [GRCh38]
Chr14:65262076 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2336G>A (p.Arg779Gln) |
single nucleotide variant |
not provided [RCV002599815] |
Chr14:64793327 [GRCh38]
Chr14:65260045 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1183-1G>A |
single nucleotide variant |
not provided [RCV003062637] |
Chr14:64796716 [GRCh38]
Chr14:65263434 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5453G>A (p.Arg1818His) |
single nucleotide variant |
Inborn genetic diseases [RCV002719515] |
Chr14:64772680 [GRCh38]
Chr14:65239398 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5937+7G>A |
single nucleotide variant |
not provided [RCV003087274] |
Chr14:64769583 [GRCh38]
Chr14:65236301 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1906T>A (p.Ser636Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002702723] |
Chr14:64793757 [GRCh38]
Chr14:65260475 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3088G>T (p.Glu1030Ter) |
single nucleotide variant |
not provided [RCV002807152] |
Chr14:64786877 [GRCh38]
Chr14:65253595 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3386A>G (p.Gln1129Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002604159]|not provided [RCV002630567] |
Chr14:64786579 [GRCh38]
Chr14:65253297 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4362G>A (p.Leu1454=) |
single nucleotide variant |
not provided [RCV003065831] |
Chr14:64779836 [GRCh38]
Chr14:65246554 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4127C>G (p.Ser1376Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002934739] |
Chr14:64782429 [GRCh38]
Chr14:65249147 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4842+8C>T |
single nucleotide variant |
not provided [RCV002630096] |
Chr14:64775117 [GRCh38]
Chr14:65241835 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.909G>A (p.Met303Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002657593]|not provided [RCV003111752] |
Chr14:64799902 [GRCh38]
Chr14:65266620 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2510C>T (p.Ala837Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002722505] |
Chr14:64793153 [GRCh38]
Chr14:65259871 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6002G>A (p.Arg2001His) |
single nucleotide variant |
Inborn genetic diseases [RCV002657570] |
Chr14:64769054 [GRCh38]
Chr14:65235772 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003152886] |
Chr14:64795516 [GRCh38]
Chr14:65262234 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5236C>T (p.Arg1746Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002587510]|not provided [RCV002587509] |
Chr14:64772897 [GRCh38]
Chr14:65239615 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1008C>T (p.Gly336=) |
single nucleotide variant |
SPTB-related condition [RCV003973702]|not provided [RCV002607359] |
Chr14:64799803 [GRCh38]
Chr14:65266521 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3392A>G (p.Gln1131Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002722271] |
Chr14:64786573 [GRCh38]
Chr14:65253291 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1342-13_1342-12delinsAA |
indel |
not provided [RCV002585947] |
Chr14:64795651..64795652 [GRCh38]
Chr14:65262369..65262370 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3382A>G (p.Ile1128Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002610116]|not provided [RCV002610115] |
Chr14:64786583 [GRCh38]
Chr14:65253301 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.2722A>G (p.Asn908Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002652662]|not provided [RCV003111641] |
Chr14:64791801 [GRCh38]
Chr14:65258519 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4449C>T (p.Ile1483=) |
single nucleotide variant |
not provided [RCV002944241] |
Chr14:64779749 [GRCh38]
Chr14:65246467 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3112C>T (p.His1038Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002652535]|not provided [RCV003140150] |
Chr14:64786853 [GRCh38]
Chr14:65253571 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.4156C>T (p.Gln1386Ter) |
single nucleotide variant |
not provided [RCV003132695] |
Chr14:64782400 [GRCh38]
Chr14:65249118 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5362_5363del (p.Thr1788fs) |
microsatellite |
not provided [RCV003132805] |
Chr14:64772770..64772771 [GRCh38]
Chr14:65239488..65239489 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3407_3408dup (p.Leu1137fs) |
duplication |
not provided [RCV003132733] |
Chr14:64786556..64786557 [GRCh38]
Chr14:65253274..65253275 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.782del (p.Pro261fs) |
deletion |
not provided [RCV003132739] |
Chr14:64800850 [GRCh38]
Chr14:65267568 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1702C>T (p.Gln568Ter) |
single nucleotide variant |
not provided [RCV003132713] |
Chr14:64794560 [GRCh38]
Chr14:65261278 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2064del (p.Leu689fs) |
deletion |
not provided [RCV003131636] |
Chr14:64793599 [GRCh38]
Chr14:65260317 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2805-2A>T |
single nucleotide variant |
not provided [RCV003132757] |
Chr14:64787162 [GRCh38]
Chr14:65253880 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1931G>A (p.Trp644Ter) |
single nucleotide variant |
not provided [RCV003132779] |
Chr14:64793732 [GRCh38]
Chr14:65260450 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.188G>A (p.Trp63Ter) |
single nucleotide variant |
not provided [RCV003132781] |
Chr14:64805051 [GRCh38]
Chr14:65271769 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.382_385dup (p.His129fs) |
duplication |
not provided [RCV003131641] |
Chr14:64803695..64803696 [GRCh38]
Chr14:65270413..65270414 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1342-1G>C |
single nucleotide variant |
not provided [RCV003132706] |
Chr14:64795640 [GRCh38]
Chr14:65262358 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5176del (p.Thr1726fs) |
deletion |
not provided [RCV003132703] |
Chr14:64773222 [GRCh38]
Chr14:65239940 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5856del (p.Ile1952fs) |
deletion |
not provided [RCV003132751] |
Chr14:64769671 [GRCh38]
Chr14:65236389 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.2351_2357del (p.Lys784fs) |
deletion |
not provided [RCV003132765] |
Chr14:64793306..64793312 [GRCh38]
Chr14:65260024..65260030 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5566C>T (p.Gln1856Ter) |
single nucleotide variant |
not provided [RCV003132763] |
Chr14:64771117 [GRCh38]
Chr14:65237835 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3790C>T (p.Gln1264Ter) |
single nucleotide variant |
not provided [RCV003132758] |
Chr14:64785602 [GRCh38]
Chr14:65252320 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.77del (p.Pro26fs) |
deletion |
not provided [RCV003132809] |
Chr14:64823018 [GRCh38]
Chr14:65289736 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3941del (p.Lys1314fs) |
deletion |
not provided [RCV003132764] |
Chr14:64784308 [GRCh38]
Chr14:65251026 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2515dup (p.Leu839fs) |
duplication |
not provided [RCV003132769] |
Chr14:64793147..64793148 [GRCh38]
Chr14:65259865..65259866 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3496C>T (p.Gln1166Ter) |
single nucleotide variant |
not provided [RCV003132722] |
Chr14:64786469 [GRCh38]
Chr14:65253187 [GRCh37]
Chr14:14q23.3 |
pathogenic|likely pathogenic |
| NM_001355436.2(SPTB):c.4201C>T (p.Gln1401Ter) |
single nucleotide variant |
not provided [RCV003132771] |
Chr14:64782355 [GRCh38]
Chr14:65249073 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.828C>A (p.Tyr276Ter) |
single nucleotide variant |
not provided [RCV003132774] |
Chr14:64800804 [GRCh38]
Chr14:65267522 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2804+1G>A |
single nucleotide variant |
not provided [RCV003131665] |
Chr14:64791718 [GRCh38]
Chr14:65258436 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1920G>A (p.Trp640Ter) |
single nucleotide variant |
not provided [RCV003131629] |
Chr14:64793743 [GRCh38]
Chr14:65260461 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1182+1G>A |
single nucleotide variant |
not provided [RCV003132736] |
Chr14:64797728 [GRCh38]
Chr14:65264446 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5850del (p.Glu1951fs) |
deletion |
not provided [RCV003132803] |
Chr14:64769677 [GRCh38]
Chr14:65236395 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.548G>A (p.Cys183Tyr) |
single nucleotide variant |
not provided [RCV003131633] |
Chr14:64802244 [GRCh38]
Chr14:65268962 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4924C>T (p.Gln1642Ter) |
single nucleotide variant |
not provided [RCV003131616] |
Chr14:64774446 [GRCh38]
Chr14:65241164 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.6071G>A (p.Trp2024Ter) |
single nucleotide variant |
not provided [RCV003131635] |
Chr14:64767811 [GRCh38]
Chr14:65234529 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3501C>A (p.Cys1167Ter) |
single nucleotide variant |
not provided [RCV003131652] |
Chr14:64786464 [GRCh38]
Chr14:65253182 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5000A>T (p.Gln1667Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003204113] |
Chr14:64773398 [GRCh38]
Chr14:65240116 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1237G>T (p.Glu413Ter) |
single nucleotide variant |
not provided [RCV003132801] |
Chr14:64796661 [GRCh38]
Chr14:65263379 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2831C>T (p.Ser944Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003212181] |
Chr14:64787134 [GRCh38]
Chr14:65253852 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5337G>A (p.Trp1779Ter) |
single nucleotide variant |
not provided [RCV003132791] |
Chr14:64772796 [GRCh38]
Chr14:65239514 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4716_4729del (p.Gly1575fs) |
deletion |
not provided [RCV003222804] |
Chr14:64775238..64775251 [GRCh38]
Chr14:65241956..65241969 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1121G>C (p.Arg374Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003206175] |
Chr14:64797790 [GRCh38]
Chr14:65264508 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4477T>A (p.Trp1493Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003181387] |
Chr14:64779243 [GRCh38]
Chr14:65245961 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5941C>G (p.Arg1981Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003202757] |
Chr14:64769115 [GRCh38]
Chr14:65235833 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.282G>A (p.Val94=) |
single nucleotide variant |
not provided [RCV003138740] |
Chr14:64804957 [GRCh38]
Chr14:65271675 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5227G>A (p.Gly1743Arg) |
single nucleotide variant |
not provided [RCV003138741] |
Chr14:64772906 [GRCh38]
Chr14:65239624 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1412C>T (p.Thr471Met) |
single nucleotide variant |
not provided [RCV003138742] |
Chr14:64795569 [GRCh38]
Chr14:65262287 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5233G>C (p.Glu1745Gln) |
single nucleotide variant |
not provided [RCV003138743] |
Chr14:64772900 [GRCh38]
Chr14:65239618 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4555A>C (p.Lys1519Gln) |
single nucleotide variant |
not provided [RCV003138744] |
Chr14:64779165 [GRCh38]
Chr14:65245883 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3763A>G (p.Arg1255Gly) |
single nucleotide variant |
not provided [RCV003138745] |
Chr14:64785750 [GRCh38]
Chr14:65252468 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2291G>A (p.Arg764Gln) |
single nucleotide variant |
not provided [RCV003138746] |
Chr14:64793372 [GRCh38]
Chr14:65260090 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4946G>A (p.Gly1649Asp) |
single nucleotide variant |
not provided [RCV003138747] |
Chr14:64774424 [GRCh38]
Chr14:65241142 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2407_2408delinsTG (p.Glu803Trp) |
indel |
not provided [RCV003138748] |
Chr14:64793255..64793256 [GRCh38]
Chr14:65259973..65259974 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.661G>A (p.Asp221Asn) |
single nucleotide variant |
not provided [RCV003138749] |
Chr14:64801387 [GRCh38]
Chr14:65268105 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1522C>T (p.Arg508Cys) |
single nucleotide variant |
not provided [RCV003138750] |
Chr14:64795459 [GRCh38]
Chr14:65262177 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3781G>A (p.Glu1261Lys) |
single nucleotide variant |
not provided [RCV003138751] |
Chr14:64785611 [GRCh38]
Chr14:65252329 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2387G>A (p.Arg796His) |
single nucleotide variant |
not provided [RCV003138752] |
Chr14:64793276 [GRCh38]
Chr14:65259994 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.5763C>G (p.Ser1921Arg) |
single nucleotide variant |
not provided [RCV003138753] |
Chr14:64770920 [GRCh38]
Chr14:65237638 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1729A>G (p.Ile577Val) |
single nucleotide variant |
not provided [RCV003138754] |
Chr14:64794533 [GRCh38]
Chr14:65261251 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6937G>A (p.Gly2313Ser) |
single nucleotide variant |
not provided [RCV003138755] |
Chr14:64749356 [GRCh38]
Chr14:65216074 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1832G>A (p.Arg611His) |
single nucleotide variant |
not provided [RCV003138756] |
Chr14:64793831 [GRCh38]
Chr14:65260549 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.190G>A (p.Val64Met) |
single nucleotide variant |
not provided [RCV003138757] |
Chr14:64805049 [GRCh38]
Chr14:65271767 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.610G>A (p.Asp204Asn) |
single nucleotide variant |
not provided [RCV003138758] |
Chr14:64801791 [GRCh38]
Chr14:65268509 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2176G>A (p.Asp726Asn) |
single nucleotide variant |
not provided [RCV003138759] |
Chr14:64793487 [GRCh38]
Chr14:65260205 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1277G>A (p.Arg426His) |
single nucleotide variant |
not provided [RCV003138760] |
Chr14:64796621 [GRCh38]
Chr14:65263339 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4564-3C>A |
single nucleotide variant |
not provided [RCV003138761] |
Chr14:64775406 [GRCh38]
Chr14:65242124 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5720G>A (p.Arg1907His) |
single nucleotide variant |
not provided [RCV003138762] |
Chr14:64770963 [GRCh38]
Chr14:65237681 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.65G>A (p.Arg22His) |
single nucleotide variant |
not provided [RCV003138763] |
Chr14:64823030 [GRCh38]
Chr14:65289748 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.5684G>A (p.Arg1895His) |
single nucleotide variant |
not provided [RCV003138764] |
Chr14:64770999 [GRCh38]
Chr14:65237717 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4278C>A (p.Asp1426Glu) |
single nucleotide variant |
not provided [RCV003138765] |
Chr14:64779920 [GRCh38]
Chr14:65246638 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5237G>A (p.Arg1746Gln) |
single nucleotide variant |
not provided [RCV003138766] |
Chr14:64772896 [GRCh38]
Chr14:65239614 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1378G>A (p.Ala460Thr) |
single nucleotide variant |
not provided [RCV003138767] |
Chr14:64795603 [GRCh38]
Chr14:65262321 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5101G>A (p.Asp1701Asn) |
single nucleotide variant |
not provided [RCV003138768] |
Chr14:64773297 [GRCh38]
Chr14:65240015 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4362G>C (p.Leu1454Phe) |
single nucleotide variant |
not provided [RCV003138769] |
Chr14:64779836 [GRCh38]
Chr14:65246554 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.636A>G (p.Ile212Met) |
single nucleotide variant |
not provided [RCV003138770] |
Chr14:64801765 [GRCh38]
Chr14:65268483 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4819G>A (p.Val1607Ile) |
single nucleotide variant |
not provided [RCV003138771] |
Chr14:64775148 [GRCh38]
Chr14:65241866 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1294G>A (p.Ala432Thr) |
single nucleotide variant |
not provided [RCV003138772] |
Chr14:64796604 [GRCh38]
Chr14:65263322 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2165C>T (p.Ser722Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003341544]|not provided [RCV003138773] |
Chr14:64793498 [GRCh38]
Chr14:65260216 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3017C>T (p.Ala1006Val) |
single nucleotide variant |
not provided [RCV003138774] |
Chr14:64786948 [GRCh38]
Chr14:65253666 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1327C>T (p.Arg443Cys) |
single nucleotide variant |
not provided [RCV003138775] |
Chr14:64796571 [GRCh38]
Chr14:65263289 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3764G>T (p.Arg1255Met) |
single nucleotide variant |
not provided [RCV003138776] |
Chr14:64785749 [GRCh38]
Chr14:65252467 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2974G>A (p.Ala992Thr) |
single nucleotide variant |
not provided [RCV003138777] |
Chr14:64786991 [GRCh38]
Chr14:65253709 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6269+6T>C |
single nucleotide variant |
not provided [RCV003138778] |
Chr14:64767297 [GRCh38]
Chr14:65234015 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4892G>T (p.Arg1631Leu) |
single nucleotide variant |
not provided [RCV003138779] |
Chr14:64774478 [GRCh38]
Chr14:65241196 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6748AAG[3] (p.Lys2253del) |
microsatellite |
not provided [RCV003138780] |
Chr14:64749998..64750000 [GRCh38]
Chr14:65216716..65216718 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.1523G>A (p.Arg508His) |
single nucleotide variant |
not provided [RCV003138781] |
Chr14:64795458 [GRCh38]
Chr14:65262176 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001355436.2(SPTB):c.6473C>A (p.Thr2158Lys) |
single nucleotide variant |
not provided [RCV003138782] |
Chr14:64753666 [GRCh38]
Chr14:65220384 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2030G>A (p.Arg677His) |
single nucleotide variant |
not provided [RCV003138783] |
Chr14:64793633 [GRCh38]
Chr14:65260351 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.559A>C (p.Thr187Pro) |
single nucleotide variant |
not provided [RCV003138784] |
Chr14:64802233 [GRCh38]
Chr14:65268951 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6503C>T (p.Thr2168Met) |
single nucleotide variant |
not provided [RCV003138785] |
Chr14:64753636 [GRCh38]
Chr14:65220354 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4376G>A (p.Arg1459Gln) |
single nucleotide variant |
not provided [RCV003138786] |
Chr14:64779822 [GRCh38]
Chr14:65246540 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.515C>T (p.Thr172Ile) |
single nucleotide variant |
not provided [RCV003138787] |
Chr14:64802277 [GRCh38]
Chr14:65268995 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1058C>T (p.Pro353Leu) |
single nucleotide variant |
not provided [RCV003138788] |
Chr14:64799753 [GRCh38]
Chr14:65266471 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6509C>T (p.Pro2170Leu) |
single nucleotide variant |
not provided [RCV003138789] |
Chr14:64753630 [GRCh38]
Chr14:65220348 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4736G>A (p.Arg1579Gln) |
single nucleotide variant |
not provided [RCV003138790] |
Chr14:64775231 [GRCh38]
Chr14:65241949 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1246C>T (p.Arg416Trp) |
single nucleotide variant |
not provided [RCV003138791] |
Chr14:64796652 [GRCh38]
Chr14:65263370 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1042C>T (p.Arg348Cys) |
single nucleotide variant |
not provided [RCV003138792] |
Chr14:64799769 [GRCh38]
Chr14:65266487 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5902del (p.Ser1968fs) |
deletion |
not provided [RCV003139133] |
Chr14:64769625 [GRCh38]
Chr14:65236343 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1324C>T (p.Gln442Ter) |
single nucleotide variant |
not provided [RCV003139138] |
Chr14:64796574 [GRCh38]
Chr14:65263292 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1064+1G>A |
single nucleotide variant |
not provided [RCV003139147] |
Chr14:64799746 [GRCh38]
Chr14:65266464 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1680G>T (p.Leu560Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003258424] |
Chr14:64794582 [GRCh38]
Chr14:65261300 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1341+1G>A |
single nucleotide variant |
not provided [RCV003132797] |
Chr14:64796556 [GRCh38]
Chr14:65263274 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5080C>T (p.Gln1694Ter) |
single nucleotide variant |
not provided [RCV003142631] |
Chr14:64773318 [GRCh38]
Chr14:65240036 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2926_2929del (p.Val976fs) |
deletion |
not provided [RCV003142634] |
Chr14:64787036..64787039 [GRCh38]
Chr14:65253754..65253757 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2566del (p.Glu856fs) |
deletion |
not provided [RCV003142636] |
Chr14:64793097 [GRCh38]
Chr14:65259815 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5938-1G>A |
single nucleotide variant |
not provided [RCV003142638] |
Chr14:64769119 [GRCh38]
Chr14:65235837 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.6565C>T (p.His2189Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003198023] |
Chr14:64753574 [GRCh38]
Chr14:65220292 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4220C>T (p.Pro1407Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003173918] |
Chr14:64782336 [GRCh38]
Chr14:65249054 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6518G>A (p.Arg2173Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003190294] |
Chr14:64753621 [GRCh38]
Chr14:65220339 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5482G>C (p.Ala1828Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003213140] |
Chr14:64772651 [GRCh38]
Chr14:65239369 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4176C>G (p.Asn1392Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003190631] |
Chr14:64782380 [GRCh38]
Chr14:65249098 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2593G>A (p.Gly865Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003190821] |
Chr14:64793070 [GRCh38]
Chr14:65259788 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5185C>T (p.Arg1729Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003217281]|not provided [RCV003481470] |
Chr14:64772948 [GRCh38]
Chr14:65239666 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3507del (p.Phe1170fs) |
deletion |
not provided [RCV003322541] |
Chr14:64786458 [GRCh38]
Chr14:65253176 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.134T>A (p.Ile45Lys) |
single nucleotide variant |
not specified [RCV003322542] |
Chr14:64822961 [GRCh38]
Chr14:65289679 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1820T>C (p.Val607Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003283261] |
Chr14:64793843 [GRCh38]
Chr14:65260561 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6235C>T (p.Arg2079Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003264389] |
Chr14:64767337 [GRCh38]
Chr14:65234055 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4895C>T (p.Ala1632Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003349723] |
Chr14:64774475 [GRCh38]
Chr14:65241193 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3343G>C (p.Asp1115His) |
single nucleotide variant |
Inborn genetic diseases [RCV003355103] |
Chr14:64786622 [GRCh38]
Chr14:65253340 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4002G>A (p.Ala1334=) |
single nucleotide variant |
not provided [RCV003393490] |
Chr14:64784247 [GRCh38]
Chr14:65250965 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2408A>G (p.Glu803Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003362126] |
Chr14:64793255 [GRCh38]
Chr14:65259973 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.716A>G (p.Asn239Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003386009] |
Chr14:64801332 [GRCh38]
Chr14:65268050 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3233C>T (p.Ser1078Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003366300]|SPTB-related condition [RCV003946498] |
Chr14:64786732 [GRCh38]
Chr14:65253450 [GRCh37]
Chr14:14q23.3 |
likely benign|uncertain significance |
| NM_001355436.2(SPTB):c.2401C>T (p.His801Tyr) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003448776] |
Chr14:64793262 [GRCh38]
Chr14:65259980 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3101A>G (p.Gln1034Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003364412] |
Chr14:64786864 [GRCh38]
Chr14:65253582 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1214G>A (p.Arg405Gln) |
single nucleotide variant |
not provided [RCV003482128] |
Chr14:64796684 [GRCh38]
Chr14:65263402 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.301-14del |
deletion |
not provided [RCV003880269] |
Chr14:64803794 [GRCh38]
Chr14:65270512 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1829_1832dup (p.Ile612fs) |
duplication |
not provided [RCV003570888] |
Chr14:64793830..64793831 [GRCh38]
Chr14:65260548..65260549 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.457ATC[1] (p.Ile154del) |
microsatellite |
not provided [RCV003570116] |
Chr14:64803619..64803621 [GRCh38]
Chr14:65270337..65270339 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3154G>A (p.Gly1052Ser) |
single nucleotide variant |
not provided [RCV003491593] |
Chr14:64786811 [GRCh38]
Chr14:65253529 [GRCh37]
Chr14:14q23.3 |
conflicting interpretations of pathogenicity |
| NM_001355436.2(SPTB):c.2170C>T (p.Gln724Ter) |
single nucleotide variant |
not provided [RCV003489447] |
Chr14:64793493 [GRCh38]
Chr14:65260211 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3130C>T (p.Gln1044Ter) |
single nucleotide variant |
not provided [RCV003489451] |
Chr14:64786835 [GRCh38]
Chr14:65253553 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5686_5692dup (p.Gln1898fs) |
duplication |
not provided [RCV003489452] |
Chr14:64770990..64770991 [GRCh38]
Chr14:65237708..65237709 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5731dup (p.Met1911fs) |
duplication |
not provided [RCV003489456] |
Chr14:64770951..64770952 [GRCh38]
Chr14:65237669..65237670 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4310del (p.Glu1437fs) |
deletion |
not provided [RCV003489457] |
Chr14:64779888 [GRCh38]
Chr14:65246606 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3304C>T (p.Gln1102Ter) |
single nucleotide variant |
not provided [RCV003489460] |
Chr14:64786661 [GRCh38]
Chr14:65253379 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2351del (p.Lys784fs) |
deletion |
not provided [RCV003489466] |
Chr14:64793312 [GRCh38]
Chr14:65260030 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.10del (p.Ala4fs) |
deletion |
not provided [RCV003489468] |
Chr14:64823085 [GRCh38]
Chr14:65289803 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.921C>G (p.Tyr307Ter) |
single nucleotide variant |
not provided [RCV003489469] |
Chr14:64799890 [GRCh38]
Chr14:65266608 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3040del (p.Leu1014fs) |
deletion |
not provided [RCV003489474] |
Chr14:64786925 [GRCh38]
Chr14:65253643 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1357G>T (p.Asp453Tyr) |
single nucleotide variant |
not provided [RCV003482127] |
Chr14:64795624 [GRCh38]
Chr14:65262342 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5506_5507insCGTCCAGCCCTTCCACC (p.Arg1836fs) |
insertion |
Hereditary spherocytosis type 2 [RCV003484985] |
Chr14:64772626..64772627 [GRCh38]
Chr14:65239344..65239345 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4800dup (p.Gly1601fs) |
duplication |
Hereditary spherocytosis type 2 [RCV003388657] |
Chr14:64775166..64775167 [GRCh38]
Chr14:65241884..65241885 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 |
copy number gain |
not provided [RCV003485036] |
Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33 |
pathogenic |
| NM_001355436.2(SPTB):c.5986G>A (p.Glu1996Lys) |
single nucleotide variant |
SPTB-related condition [RCV003399652] |
Chr14:64769070 [GRCh38]
Chr14:65235788 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2237del (p.Phe746fs) |
deletion |
not provided [RCV003480293] |
Chr14:64793426 [GRCh38]
Chr14:65260144 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3 |
copy number gain |
not provided [RCV003485034] |
Chr14:57588965..68334517 [GRCh37]
Chr14:14q22.3-24.1 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2472G>C (p.Gln824His) |
single nucleotide variant |
not provided [RCV003482125] |
Chr14:64793191 [GRCh38]
Chr14:65259909 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2711T>C (p.Ile904Thr) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003448799] |
Chr14:64791812 [GRCh38]
Chr14:65258530 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5016dup (p.Ala1673fs) |
duplication |
not provided [RCV003480276] |
Chr14:64773381..64773382 [GRCh38]
Chr14:65240099..65240100 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4687C>T (p.Gln1563Ter) |
single nucleotide variant |
not provided [RCV003480287] |
Chr14:64775280 [GRCh38]
Chr14:65241998 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5949del (p.Lys1983fs) |
deletion |
not provided [RCV003480272] |
Chr14:64769107 [GRCh38]
Chr14:65235825 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.983_984del (p.Arg328fs) |
deletion |
not provided [RCV003480301] |
Chr14:64799827..64799828 [GRCh38]
Chr14:65266545..65266546 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1311G>A (p.Trp437Ter) |
single nucleotide variant |
not provided [RCV003690922] |
Chr14:64796587 [GRCh38]
Chr14:65263305 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2280A>T (p.Gln760His) |
single nucleotide variant |
not provided [RCV003442384] |
Chr14:64793383 [GRCh38]
Chr14:65260101 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3603A>G (p.Glu1201=) |
single nucleotide variant |
not provided [RCV003400586] |
Chr14:64785910 [GRCh38]
Chr14:65252628 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3590del (p.Pro1197fs) |
deletion |
SPTB-related condition [RCV003418924] |
Chr14:64785923 [GRCh38]
Chr14:65252641 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.248G>A (p.Arg83Gln) |
single nucleotide variant |
not provided [RCV003480084] |
Chr14:64804991 [GRCh38]
Chr14:65271709 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3G>A (p.Met1Ile) |
single nucleotide variant |
not provided [RCV003480085] |
Chr14:64823092 [GRCh38]
Chr14:65289810 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6168dup (p.Ser2057fs) |
duplication |
not provided [RCV003480268] |
Chr14:64767713..64767714 [GRCh38]
Chr14:65234431..65234432 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4894_4906dup (p.Tyr1636fs) |
duplication |
not provided [RCV003480283] |
Chr14:64774463..64774464 [GRCh38]
Chr14:65241181..65241182 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2024del (p.Leu675fs) |
deletion |
not provided [RCV003480295] |
Chr14:64793639 [GRCh38]
Chr14:65260357 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5197C>T (p.Arg1733Trp) |
single nucleotide variant |
not provided [RCV003482122] |
Chr14:64772936 [GRCh38]
Chr14:65239654 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2662C>T (p.His888Tyr) |
single nucleotide variant |
not provided [RCV003482124] |
Chr14:64793001 [GRCh38]
Chr14:65259719 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1573G>A (p.Glu525Lys) |
single nucleotide variant |
not provided [RCV003482126] |
Chr14:64795408 [GRCh38]
Chr14:65262126 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.940del (p.Leu314fs) |
deletion |
SPTB-related condition [RCV003399563] |
Chr14:64799871 [GRCh38]
Chr14:65266589 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5695C>A (p.Leu1899Ile) |
single nucleotide variant |
SPTB-related condition [RCV003391239] |
Chr14:64770988 [GRCh38]
Chr14:65237706 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5553+4C>T |
single nucleotide variant |
not provided [RCV003390420] |
Chr14:64772576 [GRCh38]
Chr14:65239294 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4212A>G (p.Ser1404=) |
single nucleotide variant |
not provided [RCV003390421] |
Chr14:64782344 [GRCh38]
Chr14:65249062 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.154C>G (p.Arg52Gly) |
single nucleotide variant |
SPTB-related condition [RCV003408549] |
Chr14:64805085 [GRCh38]
Chr14:65271803 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2136G>A (p.Pro712=) |
single nucleotide variant |
not provided [RCV003400588] |
Chr14:64793527 [GRCh38]
Chr14:65260245 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.2317C>T (p.Gln773Ter) |
single nucleotide variant |
SPTB-related condition [RCV003412391] |
Chr14:64793346 [GRCh38]
Chr14:65260064 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3106del (p.Gln1036fs) |
deletion |
Hereditary spherocytosis type 2 [RCV003388788] |
Chr14:64786859 [GRCh38]
Chr14:65253577 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003388808] |
Chr14:64793742 [GRCh38]
Chr14:65260460 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1157G>C (p.Gly386Ala) |
single nucleotide variant |
SPTB-related condition [RCV003422446] |
Chr14:64797754 [GRCh38]
Chr14:65264472 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4843-1G>C |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003388267] |
Chr14:64774528 [GRCh38]
Chr14:65241246 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.166C>G (p.Gln56Glu) |
single nucleotide variant |
SPTB-related condition [RCV003416898] |
Chr14:64805073 [GRCh38]
Chr14:65271791 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1825C>T (p.Gln609Ter) |
single nucleotide variant |
SPTB-related condition [RCV003416968] |
Chr14:64793838 [GRCh38]
Chr14:65260556 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5455G>A (p.Glu1819Lys) |
single nucleotide variant |
not provided [RCV003393489] |
Chr14:64772678 [GRCh38]
Chr14:65239396 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5705C>T (p.Thr1902Met) |
single nucleotide variant |
not provided [RCV003443438] |
Chr14:64770978 [GRCh38]
Chr14:65237696 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6369del (p.Gln2124fs) |
deletion |
SPTB-related condition [RCV003399581] |
Chr14:64753770 [GRCh38]
Chr14:65220488 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5853_5854del (p.Glu1951fs) |
microsatellite |
SPTB-related condition [RCV003410885] |
Chr14:64769673..64769674 [GRCh38]
Chr14:65236391..65236392 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.612T>C (p.Asp204=) |
single nucleotide variant |
not provided [RCV003411038] |
Chr14:64801789 [GRCh38]
Chr14:65268507 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4843-1G>T |
single nucleotide variant |
SPTB-related condition [RCV003400383] |
Chr14:64774528 [GRCh38]
Chr14:65241246 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2575G>A (p.Ala859Thr) |
single nucleotide variant |
SPTB-related condition [RCV003420859] |
Chr14:64793088 [GRCh38]
Chr14:65259806 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3396G>A (p.Thr1132=) |
single nucleotide variant |
not provided [RCV003400587] |
Chr14:64786569 [GRCh38]
Chr14:65253287 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6015C>G (p.Leu2005=) |
single nucleotide variant |
not provided [RCV003393488] |
Chr14:64769041 [GRCh38]
Chr14:65235759 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.639C>T (p.His213=) |
single nucleotide variant |
not provided [RCV003400589] |
Chr14:64801762 [GRCh38]
Chr14:65268480 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3984G>A (p.Trp1328Ter) |
single nucleotide variant |
not provided [RCV003544149] |
Chr14:64784265 [GRCh38]
Chr14:65250983 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5414C>T (p.Thr1805Met) |
single nucleotide variant |
not provided [RCV003739066] |
Chr14:64772719 [GRCh38]
Chr14:65239437 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5654G>A (p.Trp1885Ter) |
single nucleotide variant |
not provided [RCV003494132] |
Chr14:64771029 [GRCh38]
Chr14:65237747 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.518G>A (p.Arg173His) |
single nucleotide variant |
not provided [RCV003491580] |
Chr14:64802274 [GRCh38]
Chr14:65268992 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.764-3C>G |
single nucleotide variant |
not provided [RCV003491581] |
Chr14:64800871 [GRCh38]
Chr14:65267589 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4595C>T (p.Pro1532Leu) |
single nucleotide variant |
not provided [RCV003491575] |
Chr14:64775372 [GRCh38]
Chr14:65242090 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2323G>A (p.Glu775Lys) |
single nucleotide variant |
not provided [RCV003491586] |
Chr14:64793340 [GRCh38]
Chr14:65260058 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5032G>A (p.Val1678Met) |
single nucleotide variant |
not provided [RCV003491600] |
Chr14:64773366 [GRCh38]
Chr14:65240084 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.544T>G (p.Trp182Gly) |
single nucleotide variant |
not provided [RCV003491608] |
Chr14:64802248 [GRCh38]
Chr14:65268966 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2638_2640dup (p.Leu880_Glu881insLeu) |
duplication |
not provided [RCV003491610] |
Chr14:64793022..64793023 [GRCh38]
Chr14:65259740..65259741 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4973G>A (p.Gly1658Glu) |
single nucleotide variant |
not provided [RCV003491589] |
Chr14:64774397 [GRCh38]
Chr14:65241115 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5330A>C (p.Glu1777Ala) |
single nucleotide variant |
not provided [RCV003577699] |
Chr14:64772803 [GRCh38]
Chr14:65239521 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4505dup (p.Ser1503fs) |
duplication |
not provided [RCV003491875] |
Chr14:64779214..64779215 [GRCh38]
Chr14:65245932..65245933 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2132_2145del (p.His711fs) |
deletion |
not provided [RCV003577665] |
Chr14:64793518..64793531 [GRCh38]
Chr14:65260236..65260249 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1473_1474del (p.Asn492fs) |
microsatellite |
not provided [RCV003696569] |
Chr14:64795507..64795508 [GRCh38]
Chr14:65262225..65262226 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4127C>A (p.Ser1376Ter) |
single nucleotide variant |
not provided [RCV003489450] |
Chr14:64782429 [GRCh38]
Chr14:65249147 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5267_5297del (p.Arg1756fs) |
deletion |
not provided [RCV003576358] |
Chr14:64772836..64772866 [GRCh38]
Chr14:65239554..65239584 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2524C>T (p.Gln842Ter) |
single nucleotide variant |
not provided [RCV003489453] |
Chr14:64793139 [GRCh38]
Chr14:65259857 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2842del (p.Glu948fs) |
deletion |
not provided [RCV003489465] |
Chr14:64787123 [GRCh38]
Chr14:65253841 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2598_2599del (p.Lys867fs) |
microsatellite |
not provided [RCV003489470] |
Chr14:64793064..64793065 [GRCh38]
Chr14:65259782..65259783 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4266+5G>T |
single nucleotide variant |
not provided [RCV003491579] |
Chr14:64782285 [GRCh38]
Chr14:65249003 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4751A>G (p.Asn1584Ser) |
single nucleotide variant |
not provided [RCV003491584] |
Chr14:64775216 [GRCh38]
Chr14:65241934 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.259A>G (p.Met87Val) |
single nucleotide variant |
not provided [RCV003491588] |
Chr14:64804980 [GRCh38]
Chr14:65271698 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4973+5G>C |
single nucleotide variant |
not provided [RCV003491591] |
Chr14:64774392 [GRCh38]
Chr14:65241110 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4597C>T (p.Arg1533Trp) |
single nucleotide variant |
not provided [RCV003491592] |
Chr14:64775370 [GRCh38]
Chr14:65242088 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4897G>A (p.Val1633Met) |
single nucleotide variant |
not provided [RCV003491597] |
Chr14:64774473 [GRCh38]
Chr14:65241191 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.167A>G (p.Gln56Arg) |
single nucleotide variant |
not provided [RCV003491598] |
Chr14:64805072 [GRCh38]
Chr14:65271790 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1109A>G (p.Gln370Arg) |
single nucleotide variant |
not provided [RCV003491601] |
Chr14:64797802 [GRCh38]
Chr14:65264520 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1465G>A (p.Glu489Lys) |
single nucleotide variant |
not provided [RCV003491603] |
Chr14:64795516 [GRCh38]
Chr14:65262234 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3338A>G (p.His1113Arg) |
single nucleotide variant |
not provided [RCV003491607] |
Chr14:64786627 [GRCh38]
Chr14:65253345 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4247G>A (p.Arg1416Gln) |
single nucleotide variant |
not provided [RCV003491609] |
Chr14:64782309 [GRCh38]
Chr14:65249027 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6010C>G (p.Arg2004Gly) |
single nucleotide variant |
not provided [RCV003491611] |
Chr14:64769046 [GRCh38]
Chr14:65235764 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5209C>T (p.Arg1737Trp) |
single nucleotide variant |
not provided [RCV003491612] |
Chr14:64772924 [GRCh38]
Chr14:65239642 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5401C>T (p.Arg1801Cys) |
single nucleotide variant |
not provided [RCV003829584] |
Chr14:64772732 [GRCh38]
Chr14:65239450 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3836T>A (p.Phe1279Tyr) |
single nucleotide variant |
not provided [RCV003491590] |
Chr14:64785556 [GRCh38]
Chr14:65252274 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1342-17T>G |
single nucleotide variant |
not provided [RCV003824404] |
Chr14:64795656 [GRCh38]
Chr14:65262374 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.709G>C (p.Ala237Pro) |
single nucleotide variant |
not provided [RCV003572261] |
Chr14:64801339 [GRCh38]
Chr14:65268057 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4512C>T (p.Ala1504=) |
single nucleotide variant |
not provided [RCV003572122] |
Chr14:64779208 [GRCh38]
Chr14:65245926 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.830_832del (p.Phe277del) |
deletion |
not provided [RCV003545315] |
Chr14:64800800..64800802 [GRCh38]
Chr14:65267518..65267520 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4912C>T (p.Arg1638Trp) |
single nucleotide variant |
not provided [RCV003491585] |
Chr14:64774458 [GRCh38]
Chr14:65241176 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.944_958del (p.Leu315_Glu319del) |
deletion |
not provided [RCV003491587] |
Chr14:64799853..64799867 [GRCh38]
Chr14:65266571..65266585 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.413T>G (p.Ile138Ser) |
single nucleotide variant |
not provided [RCV003491596] |
Chr14:64803668 [GRCh38]
Chr14:65270386 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4177A>T (p.Lys1393Ter) |
single nucleotide variant |
not provided [RCV003691444] |
Chr14:64782379 [GRCh38]
Chr14:65249097 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3493_3496del (p.Ala1165fs) |
deletion |
not provided [RCV003489455] |
Chr14:64786469..64786472 [GRCh38]
Chr14:65253187..65253190 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4101del (p.Thr1368fs) |
deletion |
not provided [RCV003489459] |
Chr14:64782455 [GRCh38]
Chr14:65249173 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.68G>A (p.Trp23Ter) |
single nucleotide variant |
not provided [RCV003489461] |
Chr14:64823027 [GRCh38]
Chr14:65289745 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3856-1G>A |
single nucleotide variant |
not provided [RCV003489473] |
Chr14:64784394 [GRCh38]
Chr14:65251112 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2980C>T (p.Gln994Ter) |
single nucleotide variant |
not provided [RCV003547203] |
Chr14:64786985 [GRCh38]
Chr14:65253703 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5071C>A (p.His1691Asn) |
single nucleotide variant |
not provided [RCV003573832] |
Chr14:64773327 [GRCh38]
Chr14:65240045 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.651del (p.Asp218fs) |
deletion |
not provided [RCV003695092] |
Chr14:64801397 [GRCh38]
Chr14:65268115 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5100C>T (p.Asp1700=) |
single nucleotide variant |
not provided [RCV003879747] |
Chr14:64773298 [GRCh38]
Chr14:65240016 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4038dup (p.Thr1347fs) |
duplication |
not provided [RCV003688104] |
Chr14:64782517..64782518 [GRCh38]
Chr14:65249235..65249236 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2818C>T (p.Gln940Ter) |
single nucleotide variant |
not provided [RCV003489448] |
Chr14:64787147 [GRCh38]
Chr14:65253865 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1894C>T (p.Gln632Ter) |
single nucleotide variant |
not provided [RCV003489449] |
Chr14:64793769 [GRCh38]
Chr14:65260487 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.6188_6189del (p.Glu2063fs) |
microsatellite |
not provided [RCV003489454] |
Chr14:64767693..64767694 [GRCh38]
Chr14:65234411..65234412 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5178del (p.Leu1727fs) |
deletion |
not provided [RCV003489458] |
Chr14:64773220 [GRCh38]
Chr14:65239938 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1101del (p.Phe367fs) |
deletion |
not provided [RCV003489462] |
Chr14:64797810 [GRCh38]
Chr14:65264528 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1015C>T (p.Gln339Ter) |
single nucleotide variant |
not provided [RCV003690631] |
Chr14:64799796 [GRCh38]
Chr14:65266514 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2561del (p.Phe854fs) |
deletion |
not provided [RCV003489463] |
Chr14:64793102 [GRCh38]
Chr14:65259820 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1603C>T (p.Gln535Ter) |
single nucleotide variant |
not provided [RCV003489464] |
Chr14:64795378 [GRCh38]
Chr14:65262096 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5975_5976del (p.Lys1992fs) |
deletion |
not provided [RCV003489467] |
Chr14:64769080..64769081 [GRCh38]
Chr14:65235798..65235799 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.250del (p.Asp84fs) |
deletion |
not provided [RCV003489471] |
Chr14:64804989 [GRCh38]
Chr14:65271707 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5886C>A (p.Cys1962Ter) |
single nucleotide variant |
not provided [RCV003489472] |
Chr14:64769641 [GRCh38]
Chr14:65236359 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1456C>T (p.Gln486Ter) |
single nucleotide variant |
not provided [RCV003489475] |
Chr14:64795525 [GRCh38]
Chr14:65262243 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2805-3C>G |
single nucleotide variant |
not provided [RCV003544779] |
Chr14:64787163 [GRCh38]
Chr14:65253881 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4439_4445del (p.Lys1480fs) |
deletion |
not provided [RCV003576381] |
Chr14:64779753..64779759 [GRCh38]
Chr14:65246471..65246477 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4267-1G>A |
single nucleotide variant |
not provided [RCV003491876] |
Chr14:64779932 [GRCh38]
Chr14:65246650 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5801dup (p.Asp1934fs) |
duplication |
not provided [RCV003491877] |
Chr14:64769725..64769726 [GRCh38]
Chr14:65236443..65236444 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.222C>T (p.Arg74=) |
single nucleotide variant |
not provided [RCV003545910] |
Chr14:64805017 [GRCh38]
Chr14:65271735 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.5778C>T (p.Ile1926=) |
single nucleotide variant |
not provided [RCV003545909] |
Chr14:64770905 [GRCh38]
Chr14:65237623 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3996C>T (p.Ile1332=) |
single nucleotide variant |
not provided [RCV003545365] |
Chr14:64784253 [GRCh38]
Chr14:65250971 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.4593G>A (p.Thr1531=) |
single nucleotide variant |
not provided [RCV003879625] |
Chr14:64775374 [GRCh38]
Chr14:65242092 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6269+6T>A |
single nucleotide variant |
not provided [RCV003491576] |
Chr14:64767297 [GRCh38]
Chr14:65234015 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1064+3A>T |
single nucleotide variant |
not provided [RCV003491577] |
Chr14:64799744 [GRCh38]
Chr14:65266462 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6056C>T (p.Ser2019Phe) |
single nucleotide variant |
not provided [RCV003491578] |
Chr14:64767826 [GRCh38]
Chr14:65234544 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4936C>T (p.Arg1646Trp) |
single nucleotide variant |
not provided [RCV003491582] |
Chr14:64774434 [GRCh38]
Chr14:65241152 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.44C>G (p.Pro15Arg) |
single nucleotide variant |
not provided [RCV003491583] |
Chr14:64823051 [GRCh38]
Chr14:65289769 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1333G>A (p.Val445Met) |
single nucleotide variant |
not provided [RCV003491594] |
Chr14:64796565 [GRCh38]
Chr14:65263283 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3405G>C (p.Glu1135Asp) |
single nucleotide variant |
not provided [RCV003491595] |
Chr14:64786560 [GRCh38]
Chr14:65253278 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5528G>A (p.Arg1843Gln) |
single nucleotide variant |
not provided [RCV003491599] |
Chr14:64772605 [GRCh38]
Chr14:65239323 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6627G>C (p.Val2209=) |
single nucleotide variant |
not provided [RCV003491602] |
Chr14:64750130 [GRCh38]
Chr14:65216848 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.913G>A (p.Glu305Lys) |
single nucleotide variant |
not provided [RCV003491604] |
Chr14:64799898 [GRCh38]
Chr14:65266616 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1043G>A (p.Arg348His) |
single nucleotide variant |
not provided [RCV003491605] |
Chr14:64799768 [GRCh38]
Chr14:65266486 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.546G>T (p.Trp182Cys) |
single nucleotide variant |
not provided [RCV003491606] |
Chr14:64802246 [GRCh38]
Chr14:65268964 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5110C>T (p.Gln1704Ter) |
single nucleotide variant |
not provided [RCV003696824] |
Chr14:64773288 [GRCh38]
Chr14:65240006 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5275G>A (p.Asp1759Asn) |
single nucleotide variant |
not provided [RCV003740507] |
Chr14:64772858 [GRCh38]
Chr14:65239576 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2499G>A (p.Val833=) |
single nucleotide variant |
not provided [RCV003740525] |
Chr14:64793164 [GRCh38]
Chr14:65259882 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.443G>T (p.Gly148Val) |
single nucleotide variant |
not provided [RCV003740538] |
Chr14:64803638 [GRCh38]
Chr14:65270356 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6396G>C (p.Pro2132=) |
single nucleotide variant |
not provided [RCV003740568] |
Chr14:64753743 [GRCh38]
Chr14:65220461 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3202C>T (p.Gln1068Ter) |
single nucleotide variant |
not provided [RCV003740648] |
Chr14:64786763 [GRCh38]
Chr14:65253481 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2407G>A (p.Glu803Lys) |
single nucleotide variant |
Spherocytosis [RCV003582170] |
Chr14:64793256 [GRCh38]
Chr14:65259974 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5798+8G>T |
single nucleotide variant |
not provided [RCV003580004] |
Chr14:64770877 [GRCh38]
Chr14:65237595 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.326G>C (p.Arg109Pro) |
single nucleotide variant |
not provided [RCV003696978] |
Chr14:64803755 [GRCh38]
Chr14:65270473 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2363_2364insA (p.Phe788fs) |
insertion |
not provided [RCV003665616] |
Chr14:64793299..64793300 [GRCh38]
Chr14:65260017..65260018 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.474+6_474+12del |
deletion |
not provided [RCV003855896] |
Chr14:64803595..64803601 [GRCh38]
Chr14:65270313..65270319 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2631A>T (p.Pro877=) |
single nucleotide variant |
not provided [RCV003561679] |
Chr14:64793032 [GRCh38]
Chr14:65259750 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.6346-4G>C |
single nucleotide variant |
not provided [RCV003740522] |
Chr14:64753797 [GRCh38]
Chr14:65220515 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2135C>T (p.Pro712Leu) |
single nucleotide variant |
not provided [RCV003856157] |
Chr14:64793528 [GRCh38]
Chr14:65260246 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5506C>T (p.Arg1836Trp) |
single nucleotide variant |
not provided [RCV003740565] |
Chr14:64772627 [GRCh38]
Chr14:65239345 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2667-2A>G |
single nucleotide variant |
not provided [RCV003665615] |
Chr14:64791858 [GRCh38]
Chr14:65258576 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.3764+1G>A |
single nucleotide variant |
not provided [RCV003557823] |
Chr14:64785748 [GRCh38]
Chr14:65252466 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1353G>A (p.Gly451=) |
single nucleotide variant |
not provided [RCV003671659] |
Chr14:64795628 [GRCh38]
Chr14:65262346 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.5223G>A (p.Ala1741=) |
single nucleotide variant |
not provided [RCV003810904] |
Chr14:64772910 [GRCh38]
Chr14:65239628 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.590A>G (p.Asn197Ser) |
single nucleotide variant |
not provided [RCV003580127] |
Chr14:64801811 [GRCh38]
Chr14:65268529 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2805-8T>C |
single nucleotide variant |
not provided [RCV003559564] |
Chr14:64787168 [GRCh38]
Chr14:65253886 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2727C>T (p.Leu909=) |
single nucleotide variant |
not provided [RCV003559023] |
Chr14:64791796 [GRCh38]
Chr14:65258514 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6724_6726dup (p.Ile2242_Cys2243insIle) |
duplication |
not provided [RCV003740617] |
Chr14:64750030..64750031 [GRCh38]
Chr14:65216748..65216749 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.3511C>T (p.Gln1171Ter) |
single nucleotide variant |
not provided [RCV003560699] |
Chr14:64786454 [GRCh38]
Chr14:65253172 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4563+12G>A |
single nucleotide variant |
not provided [RCV003838752] |
Chr14:64779145 [GRCh38]
Chr14:65245863 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4052C>T (p.Ser1351Phe) |
single nucleotide variant |
not provided [RCV003567719] |
Chr14:64782504 [GRCh38]
Chr14:65249222 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4857C>A (p.Ala1619=) |
single nucleotide variant |
not provided [RCV003823218] |
Chr14:64774513 [GRCh38]
Chr14:65241231 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.475-5C>T |
single nucleotide variant |
not provided [RCV003736351] |
Chr14:64802322 [GRCh38]
Chr14:65269040 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.5798+1G>A |
single nucleotide variant |
not provided [RCV003734645] |
Chr14:64770884 [GRCh38]
Chr14:65237602 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5732dup (p.Met1911fs) |
duplication |
not provided [RCV003706642] |
Chr14:64770950..64770951 [GRCh38]
Chr14:65237668..65237669 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.432_435dup (p.Val146fs) |
duplication |
not provided [RCV003564117] |
Chr14:64803645..64803646 [GRCh38]
Chr14:65270363..65270364 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1903C>T (p.Gln635Ter) |
single nucleotide variant |
not provided [RCV003678799] |
Chr14:64793760 [GRCh38]
Chr14:65260478 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.924C>T (p.Ser308=) |
single nucleotide variant |
not provided [RCV003846585] |
Chr14:64799887 [GRCh38]
Chr14:65266605 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4974-2A>G |
single nucleotide variant |
not provided [RCV003563414] |
Chr14:64773426 [GRCh38]
Chr14:65240144 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2092C>T (p.Gln698Ter) |
single nucleotide variant |
not provided [RCV003675071] |
Chr14:64793571 [GRCh38]
Chr14:65260289 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.4791G>A (p.Glu1597=) |
single nucleotide variant |
not provided [RCV003563334] |
Chr14:64775176 [GRCh38]
Chr14:65241894 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.844del (p.Val282fs) |
deletion |
not provided [RCV003686113] |
Chr14:64800788 [GRCh38]
Chr14:65267506 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5366G>A (p.Arg1789His) |
single nucleotide variant |
not provided [RCV003847116] |
Chr14:64772767 [GRCh38]
Chr14:65239485 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6017G>C (p.Arg2006Pro) |
single nucleotide variant |
not provided [RCV003840870] |
Chr14:64769039 [GRCh38]
Chr14:65235757 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.4747G>A (p.Ala1583Thr) |
single nucleotide variant |
not provided [RCV003720213] |
Chr14:64775220 [GRCh38]
Chr14:65241938 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6242T>C (p.Ile2081Thr) |
single nucleotide variant |
not provided [RCV003565812] |
Chr14:64767330 [GRCh38]
Chr14:65234048 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.753C>T (p.Leu251=) |
single nucleotide variant |
not provided [RCV003736496] |
Chr14:64801295 [GRCh38]
Chr14:65268013 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6379C>A (p.Gln2127Lys) |
single nucleotide variant |
not provided [RCV003736513] |
Chr14:64753760 [GRCh38]
Chr14:65220478 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1023_1024delinsTT (p.Gln342Ter) |
indel |
not provided [RCV003542169] |
Chr14:64799787..64799788 [GRCh38]
Chr14:65266505..65266506 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.545G>A (p.Trp182Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003986007] |
Chr14:64802247 [GRCh38]
Chr14:65268965 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4965C>A (p.His1655Gln) |
single nucleotide variant |
not provided [RCV003682524] |
Chr14:64774405 [GRCh38]
Chr14:65241123 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2955G>A (p.Arg985=) |
single nucleotide variant |
not provided [RCV003868443] |
Chr14:64787010 [GRCh38]
Chr14:65253728 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1671G>A (p.Gly557=) |
single nucleotide variant |
not provided [RCV003865971] |
Chr14:64794591 [GRCh38]
Chr14:65261309 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3271G>A (p.Glu1091Lys) |
single nucleotide variant |
not provided [RCV003862401] |
Chr14:64786694 [GRCh38]
Chr14:65253412 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.242A>T (p.Asp81Val) |
single nucleotide variant |
not provided [RCV003718691] |
Chr14:64804997 [GRCh38]
Chr14:65271715 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.534G>A (p.Ala178=) |
single nucleotide variant |
SPTB-related condition [RCV003966657]|not provided [RCV003735046] |
Chr14:64802258 [GRCh38]
Chr14:65268976 [GRCh37]
Chr14:14q23.3 |
benign|likely benign |
| NM_001355436.2(SPTB):c.921C>T (p.Tyr307=) |
single nucleotide variant |
not provided [RCV003736397] |
Chr14:64799890 [GRCh38]
Chr14:65266608 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1189del (p.Glu397fs) |
deletion |
not provided [RCV003736433] |
Chr14:64796709 [GRCh38]
Chr14:65263427 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.3369_3370del (p.Lys1126fs) |
deletion |
not provided [RCV003736481] |
Chr14:64786595..64786596 [GRCh38]
Chr14:65253313..65253314 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5197del (p.Arg1733fs) |
deletion |
not provided [RCV003736516] |
Chr14:64772936 [GRCh38]
Chr14:65239654 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1603C>A (p.Gln535Lys) |
single nucleotide variant |
not provided [RCV003736472] |
Chr14:64795378 [GRCh38]
Chr14:65262096 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1441C>T (p.Leu481=) |
single nucleotide variant |
not provided [RCV003736463] |
Chr14:64795540 [GRCh38]
Chr14:65262258 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1425G>A (p.Glu475=) |
single nucleotide variant |
not provided [RCV003736462] |
Chr14:64795556 [GRCh38]
Chr14:65262274 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4278C>T (p.Asp1426=) |
single nucleotide variant |
not provided [RCV003736528] |
Chr14:64779920 [GRCh38]
Chr14:65246638 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.5368A>G (p.Met1790Val) |
single nucleotide variant |
not provided [RCV003680816] |
Chr14:64772765 [GRCh38]
Chr14:65239483 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.5290G>T (p.Glu1764Ter) |
single nucleotide variant |
not provided [RCV003564495] |
Chr14:64772843 [GRCh38]
Chr14:65239561 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.361C>T (p.Gln121Ter) |
single nucleotide variant |
not provided [RCV003842965] |
Chr14:64803720 [GRCh38]
Chr14:65270438 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.1008C>G (p.Gly336=) |
single nucleotide variant |
not provided [RCV003676942] |
Chr14:64799803 [GRCh38]
Chr14:65266521 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.81C>T (p.Asp27=) |
single nucleotide variant |
not provided [RCV003822542] |
Chr14:64823014 [GRCh38]
Chr14:65289732 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3004C>T (p.Arg1002Cys) |
single nucleotide variant |
not provided [RCV003731056] |
Chr14:64786961 [GRCh38]
Chr14:65253679 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.2115G>A (p.Ala705=) |
single nucleotide variant |
not provided [RCV003550539] |
Chr14:64793548 [GRCh38]
Chr14:65260266 [GRCh37]
Chr14:14q23.3 |
benign |
| NM_001355436.2(SPTB):c.3486C>T (p.His1162=) |
single nucleotide variant |
not provided [RCV003553791] |
Chr14:64786479 [GRCh38]
Chr14:65253197 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2333C>T (p.Thr778Met) |
single nucleotide variant |
SPTB-related condition [RCV003976837] |
Chr14:64793330 [GRCh38]
Chr14:65260048 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.6393G>A (p.Pro2131=) |
single nucleotide variant |
SPTB-related condition [RCV003917156] |
Chr14:64753746 [GRCh38]
Chr14:65220464 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3768C>T (p.His1256=) |
single nucleotide variant |
SPTB-related condition [RCV003961413] |
Chr14:64785624 [GRCh38]
Chr14:65252342 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3333C>T (p.Asp1111=) |
single nucleotide variant |
SPTB-related condition [RCV003921611] |
Chr14:64786632 [GRCh38]
Chr14:65253350 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.435G>T (p.Leu145=) |
single nucleotide variant |
SPTB-related condition [RCV003979455] |
Chr14:64803646 [GRCh38]
Chr14:65270364 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1152C>T (p.His384=) |
single nucleotide variant |
SPTB-related condition [RCV003902286] |
Chr14:64797759 [GRCh38]
Chr14:65264477 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.301-8_301-7insGG |
insertion |
SPTB-related condition [RCV003924125] |
Chr14:64803787..64803788 [GRCh38]
Chr14:65270505..65270506 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6498C>T (p.Pro2166=) |
single nucleotide variant |
SPTB-related condition [RCV003977133] |
Chr14:64753641 [GRCh38]
Chr14:65220359 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3765-1G>A |
single nucleotide variant |
not provided [RCV003887292] |
Chr14:64785628 [GRCh38]
Chr14:65252346 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.2946C>T (p.Asp982=) |
single nucleotide variant |
SPTB-related condition [RCV003961948] |
Chr14:64787019 [GRCh38]
Chr14:65253737 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4909G>A (p.Gly1637Ser) |
single nucleotide variant |
SPTB-related condition [RCV003982811] |
Chr14:64774461 [GRCh38]
Chr14:65241179 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.1782dup (p.Thr595fs) |
duplication |
SPTB-related condition [RCV003949851] |
Chr14:64794479..64794480 [GRCh38]
Chr14:65261197..65261198 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.964A>G (p.Ile322Val) |
single nucleotide variant |
SPTB-related condition [RCV003966828] |
Chr14:64799847 [GRCh38]
Chr14:65266565 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2214C>T (p.Asn738=) |
single nucleotide variant |
SPTB-related condition [RCV003909733] |
Chr14:64793449 [GRCh38]
Chr14:65260167 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2973C>T (p.Ile991=) |
single nucleotide variant |
SPTB-related condition [RCV003959715] |
Chr14:64786992 [GRCh38]
Chr14:65253710 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4320C>A (p.Ala1440=) |
single nucleotide variant |
SPTB-related condition [RCV003893670] |
Chr14:64779878 [GRCh38]
Chr14:65246596 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.6831G>A (p.Leu2277=) |
single nucleotide variant |
SPTB-related condition [RCV003981937] |
Chr14:64749462 [GRCh38]
Chr14:65216180 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1305_1306del (p.Glu435fs) |
microsatellite |
SPTB-related condition [RCV003897077] |
Chr14:64796592..64796593 [GRCh38]
Chr14:65263310..65263311 [GRCh37]
Chr14:14q23.3 |
pathogenic |
| NM_001355436.2(SPTB):c.5211G>A (p.Arg1737=) |
single nucleotide variant |
SPTB-related condition [RCV003894042] |
Chr14:64772922 [GRCh38]
Chr14:65239640 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.1092T>C (p.Val364=) |
single nucleotide variant |
SPTB-related condition [RCV003959609] |
Chr14:64797819 [GRCh38]
Chr14:65264537 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.4812G>A (p.Glu1604=) |
single nucleotide variant |
SPTB-related condition [RCV003969665] |
Chr14:64775155 [GRCh38]
Chr14:65241873 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.3241C>T (p.Gln1081Ter) |
single nucleotide variant |
SPTB-related condition [RCV003911981] |
Chr14:64786724 [GRCh38]
Chr14:65253442 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.1059G>A (p.Pro353=) |
single nucleotide variant |
SPTB-related condition [RCV003979403] |
Chr14:64799752 [GRCh38]
Chr14:65266470 [GRCh37]
Chr14:14q23.3 |
likely benign |
| NM_001355436.2(SPTB):c.2671G>A (p.Asp891Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003345524] |
Chr14:64791852 [GRCh38]
Chr14:65258570 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.877-15_877-1del |
deletion |
not provided [RCV003132707] |
Chr14:64799935..64799949 [GRCh38]
Chr14:65266653..65266667 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4398_4399dup (p.Leu1467fs) |
duplication |
not provided [RCV003132709] |
Chr14:64779798..64779799 [GRCh38]
Chr14:65246516..65246517 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.4624C>T (p.Gln1542Ter) |
single nucleotide variant |
not provided [RCV003132717] |
Chr14:64775343 [GRCh38]
Chr14:65242061 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2144_2145del (p.Glu715fs) |
deletion |
not provided [RCV003131621] |
Chr14:64793518..64793519 [GRCh38]
Chr14:65260236..65260237 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2093del (p.Gln698fs) |
deletion |
not provided [RCV003131631] |
Chr14:64793570 [GRCh38]
Chr14:65260288 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2855C>G (p.Ser952Ter) |
single nucleotide variant |
not provided [RCV003131632] |
Chr14:64787110 [GRCh38]
Chr14:65253828 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter) |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003337902]|not provided [RCV003491366] |
Chr14:64793526 [GRCh38]
Chr14:65260244 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.647+1G>A |
single nucleotide variant |
Hereditary spherocytosis type 2 [RCV003340828] |
Chr14:64801753 [GRCh38]
Chr14:65268471 [GRCh37]
Chr14:14q23.3 |
likely pathogenic |
| NM_001355436.2(SPTB):c.5533C>T (p.Leu1845Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003357570] |
Chr14:64772600 [GRCh38]
Chr14:65239318 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
| NM_001355436.2(SPTB):c.59A>G (p.Asn20Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003342864] |
Chr14:64823036 [GRCh38]
Chr14:65289754 [GRCh37]
Chr14:14q23.3 |
uncertain significance |
