| NM_003126.4(SPTA1):c.4605+4del |
deletion |
not provided [RCV001507479] |
Chr1:158642810 [GRCh38]
Chr1:158612600 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.178C>T (p.Arg60Ter) |
single nucleotide variant |
SPTA1-related disorder [RCV004738326]|not provided [RCV001508007] |
Chr1:158685194 [GRCh38]
Chr1:158654984 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.122G>A (p.Arg41Gln) |
single nucleotide variant |
not provided [RCV001508008] |
Chr1:158685250 [GRCh38]
Chr1:158655040 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) |
duplication |
Elliptocytosis 2 [RCV000013700]|Pyropoikilocytosis, hereditary [RCV001336016]|SPTA1-related disorder [RCV004737148]|not provided [RCV000598724] |
Chr1:158681595..158681596 [GRCh38]
Chr1:158651385..158651386 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.2465-1G>A |
single nucleotide variant |
Elliptocytosis 2 [RCV000013718] |
Chr1:158661410 [GRCh38]
Chr1:158631200 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NG_011474.1:g.11070_11071insSVAelement |
insertion |
Elliptocytosis 2 [RCV000013719]|Pyropoikilocytosis, hereditary [RCV001781259] |
Chr1:1q21 |
pathogenic |
| NM_003126.4(SPTA1):c.2806-13T>G |
single nucleotide variant |
Pyropoikilocytosis, hereditary [RCV000013721]|not provided [RCV005089244] |
Chr1:158656669 [GRCh38]
Chr1:158626459 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.2(SPTA1):c.5190_5310del |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV000013723] |
Chr1:158636763 [GRCh38]
Chr1:158606553 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| SPTA1, IVS30, C-T, -99 |
single nucleotide variant |
Spherocytosis type 3 [RCV000013724] |
Chr1:1q21 |
pathogenic |
| NM_003126.4(SPTA1):c.3188+5G>A |
single nucleotide variant |
Pyropoikilocytosis, hereditary [RCV000013725] |
Chr1:158653269 [GRCh38]
Chr1:158623059 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp) |
single nucleotide variant |
Elliptocytosis 2 [RCV000355023]|Hereditary spherocytosis type 3 [RCV000398747]|Pyropoikilocytosis, hereditary [RCV000304881]|not provided [RCV001248301] |
Chr1:158612883 [GRCh38]
Chr1:158582673 [GRCh37]
Chr1:1q23.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn) |
single nucleotide variant |
Elliptocytosis 2 [RCV000403455]|Hereditary spherocytosis type 3 [RCV000304977]|Pyropoikilocytosis, hereditary [RCV000339803]|not specified [RCV001000669] |
Chr1:158669714 [GRCh38]
Chr1:158639504 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000305304]|Elliptocytosis 2 [RCV002502161]|Hereditary spherocytosis type 3 [RCV000403808]|Pyropoikilocytosis, hereditary [RCV000340319]|not provided [RCV000955801] |
Chr1:158662748 [GRCh38]
Chr1:158632538 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013697]|Spherocytosis [RCV004798726]|not provided [RCV000413397] |
Chr1:158678434 [GRCh38]
Chr1:158648224 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013698]|not provided [RCV003137514] |
Chr1:158672135 [GRCh38]
Chr1:158641925 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) |
single nucleotide variant |
Elliptocytosis 2 [RCV002496348]|Hereditary spherocytosis type 3 [RCV000315888]|Pyropoikilocytosis, hereditary [RCV000986444]|SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE [RCV000013699]|not provided [RCV001810857]|not specified [RCV000251633] |
Chr1:158654738 [GRCh38]
Chr1:158624528 [GRCh37]
Chr1:1q23.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013701]|not provided [RCV002284170] |
Chr1:158678432 [GRCh38]
Chr1:158648222 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013703]|Pyropoikilocytosis, hereditary [RCV000013702] |
Chr1:158685237 [GRCh38]
Chr1:158655027 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013704] |
Chr1:158685235 [GRCh38]
Chr1:158655025 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013705]|Elliptocytosis 2 [RCV001004905] |
Chr1:158685227 [GRCh38]
Chr1:158655017 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_003126.4(SPTA1):c.121C>T (p.Arg41Trp) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013706] |
Chr1:158685251 [GRCh38]
Chr1:158655041 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013707]|not provided [RCV001508009] |
Chr1:158685289 [GRCh38]
Chr1:158655079 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013708]|Pyropoikilocytosis, hereditary [RCV000013709]|not provided [RCV001508010] |
Chr1:158685290 [GRCh38]
Chr1:158655080 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013710]|Pyropoikilocytosis, hereditary [RCV000013711]|SPTA1-related disorder [RCV003335031]|not provided [RCV001508011] |
Chr1:158685290 [GRCh38]
Chr1:158655080 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.83G>A (p.Arg28His) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013712]|Prenatal anemia [RCV000787368]|Pyropoikilocytosis, hereditary [RCV000013713]|SPTA1-related disorder [RCV004737149]|not provided [RCV000360212] |
Chr1:158685289 [GRCh38]
Chr1:158655079 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013715]|Pyropoikilocytosis, hereditary [RCV000013714]|not provided [RCV001509084] |
Chr1:158680641 [GRCh38]
Chr1:158650431 [GRCh37]
Chr1:1q23.1 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg) |
single nucleotide variant |
Pyropoikilocytosis, hereditary [RCV000013716]|not provided [RCV001810858] |
Chr1:158685229 [GRCh38]
Chr1:158655019 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000013717]|Hereditary spherocytosis type 3 [RCV000404574]|Pyropoikilocytosis, hereditary [RCV000345657]|not provided [RCV001508911]|not specified [RCV004017236] |
Chr1:158662793 [GRCh38]
Chr1:158632583 [GRCh37]
Chr1:1q23.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003126.2(SPTA1):c.6454C>A (p.Gln2152Lys) |
single nucleotide variant |
Lung cancer [RCV000089811] |
Chr1:158619298 [GRCh38]
Chr1:158589088 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.2(SPTA1):c.5432+605G>T |
single nucleotide variant |
Lung cancer [RCV000089812] |
Chr1:158635308 [GRCh38]
Chr1:158605098 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.2(SPTA1):c.4442+59G>C |
single nucleotide variant |
Lung cancer [RCV000089813] |
Chr1:158643263 [GRCh38]
Chr1:158613053 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.2(SPTA1):c.2588-161T>A |
single nucleotide variant |
Lung cancer [RCV000089814] |
Chr1:158657855 [GRCh38]
Chr1:158627645 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.2(SPTA1):c.2220+1379T>A |
single nucleotide variant |
Lung cancer [RCV000089815] |
Chr1:158664937 [GRCh38]
Chr1:158634727 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.2(SPTA1):c.531+116G>T |
single nucleotide variant |
Lung cancer [RCV000089816] |
Chr1:158681411 [GRCh38]
Chr1:158651201 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 |
copy number gain |
See cases [RCV000051854] |
Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1 |
pathogenic |
| GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] |
Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3 |
pathogenic |
| NM_003126.2(SPTA1):c.2703C>T (p.Phe901=) |
single nucleotide variant |
Malignant melanoma [RCV000059939] |
Chr1:158657579 [GRCh38]
Chr1:158627369 [GRCh37]
Chr1:156893993 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_003126.2(SPTA1):c.2648C>T (p.Ser883Phe) |
single nucleotide variant |
Malignant melanoma [RCV000059940] |
Chr1:158657634 [GRCh38]
Chr1:158627424 [GRCh37]
Chr1:156894048 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_003126.2(SPTA1):c.7090C>T (p.Leu2364=) |
single nucleotide variant |
Malignant melanoma [RCV000064231] |
Chr1:158612861 [GRCh38]
Chr1:158582651 [GRCh37]
Chr1:156849275 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_003126.2(SPTA1):c.2728G>A (p.Glu910Lys) |
single nucleotide variant |
Malignant melanoma [RCV000064232] |
Chr1:158657554 [GRCh38]
Chr1:158627344 [GRCh37]
Chr1:156893968 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_003126.2(SPTA1):c.1618A>G (p.Thr540Ala) |
single nucleotide variant |
Malignant melanoma [RCV000064233] |
Chr1:158669768 [GRCh38]
Chr1:158639558 [GRCh37]
Chr1:156906182 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_003126.2(SPTA1):c.807C>T (p.Phe269=) |
single nucleotide variant |
Malignant melanoma [RCV000064234] |
Chr1:158678406 [GRCh38]
Chr1:158648196 [GRCh37]
Chr1:156914820 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_003126.2(SPTA1):c.792A>T (p.Ala264=) |
single nucleotide variant |
Malignant melanoma [RCV000064235] |
Chr1:158678421 [GRCh38]
Chr1:158648211 [GRCh37]
Chr1:156914835 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_001004478.1(OR10Z1):c.231C>T (p.Ile77=) |
single nucleotide variant |
Malignant melanoma [RCV000059938] |
Chr1:158606669 [GRCh38]
Chr1:158576459 [GRCh37]
Chr1:156843083 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) |
single nucleotide variant |
SPTA1-related disorder [RCV004547832]|not provided [RCV001811433]|not specified [RCV004026053] |
Chr1:158683388 [GRCh38]
Chr1:158653178 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1053C>G (p.Ser351Arg) |
single nucleotide variant |
not provided [RCV001813037] |
Chr1:158676200 [GRCh38]
Chr1:158645990 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser) |
single nucleotide variant |
not provided [RCV001509080]|not specified [RCV004035525] |
Chr1:158674664 [GRCh38]
Chr1:158644454 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6788+11C>T |
single nucleotide variant |
Hereditary spherocytosis [RCV001290767]|Hereditary spherocytosis type 3 [RCV003234029] |
Chr1:158615205 [GRCh38]
Chr1:158584995 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.3800T>G (p.Leu1267Arg) |
single nucleotide variant |
not provided [RCV001813164] |
Chr1:158647635 [GRCh38]
Chr1:158617425 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3257del (p.Leu1086fs) |
deletion |
not provided [RCV001813035] |
Chr1:158652585 [GRCh38]
Chr1:158622375 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.3163C>T (p.Gln1055Ter) |
single nucleotide variant |
Elliptocytosis 2 [RCV001332228] |
Chr1:158653299 [GRCh38]
Chr1:158623089 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.6376G>T (p.Val2126Leu) |
single nucleotide variant |
Elliptocytosis 2 [RCV001332231] |
Chr1:158620211 [GRCh38]
Chr1:158590001 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| NM_003126.4(SPTA1):c.*68C>G |
single nucleotide variant |
Elliptocytosis 2 [RCV000331748]|Hereditary spherocytosis type 3 [RCV000375773]|Pyropoikilocytosis, hereditary [RCV000262559] |
Chr1:158611196 [GRCh38]
Chr1:158580986 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.*323T>C |
single nucleotide variant |
Elliptocytosis 2 [RCV000353849]|Hereditary spherocytosis type 3 [RCV000262480]|Pyropoikilocytosis, hereditary [RCV000301383] |
Chr1:158610941 [GRCh38]
Chr1:158580731 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1834-14del |
deletion |
Elliptocytosis [RCV000393570]|Pyropoikilocytosis, hereditary [RCV000352036]|Spherocytosis, Recessive [RCV000292434]|not provided [RCV001711868] |
Chr1:158668076 [GRCh38]
Chr1:158637866 [GRCh37]
Chr1:1q23.1 |
benign|uncertain significance |
| NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro) |
single nucleotide variant |
Elliptocytosis 2 [RCV000389358]|Hereditary spherocytosis type 3 [RCV000293245]|Pyropoikilocytosis, hereditary [RCV000350472]|not provided [RCV001812777] |
Chr1:158651446 [GRCh38]
Chr1:158621236 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) |
single nucleotide variant |
Elliptocytosis 2 [RCV000395419]|Hereditary spherocytosis type 3 [RCV000348129]|Pyropoikilocytosis, hereditary [RCV000302703]|not provided [RCV001770231] |
Chr1:158635967 [GRCh38]
Chr1:158605757 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.5834-15G>A |
single nucleotide variant |
Elliptocytosis 2 [RCV000402300]|Hereditary spherocytosis type 3 [RCV000365233]|Pyropoikilocytosis, hereditary [RCV000302956]|not provided [RCV001812776] |
Chr1:158626237 [GRCh38]
Chr1:158596027 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.3166C>T (p.Arg1056Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV000293726]|Hereditary spherocytosis type 3 [RCV000318294]|Pyropoikilocytosis, hereditary [RCV000375346]|not provided [RCV003765706] |
Chr1:158653296 [GRCh38]
Chr1:158623086 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) |
single nucleotide variant |
Elliptocytosis 2 [RCV000293657]|Hereditary spherocytosis type 3 [RCV000405400]|Pyropoikilocytosis, hereditary [RCV000336888]|not provided [RCV000955800] |
Chr1:158661354 [GRCh38]
Chr1:158631144 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000332397]|Hereditary spherocytosis type 3 [RCV000385371]|Pyropoikilocytosis, hereditary [RCV000293760]|not provided [RCV003114462] |
Chr1:158626894 [GRCh38]
Chr1:158596684 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) |
single nucleotide variant |
Elliptocytosis 2 [RCV000402406]|Hereditary spherocytosis type 3 [RCV000296895]|Pyropoikilocytosis, hereditary [RCV000338302]|not provided [RCV000903571] |
Chr1:158613860 [GRCh38]
Chr1:158583650 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6390C>T (p.Thr2130=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000296971]|Hereditary spherocytosis type 3 [RCV000398897]|Pyropoikilocytosis, hereditary [RCV000354054]|not provided [RCV004691144] |
Chr1:158620197 [GRCh38]
Chr1:158589987 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly) |
single nucleotide variant |
Elliptocytosis 2 [RCV000335869]|Hereditary spherocytosis type 3 [RCV000297257]|Pyropoikilocytosis, hereditary [RCV000399026]|not provided [RCV003137908] |
Chr1:158661368 [GRCh38]
Chr1:158631158 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.345G>A (p.Arg115=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000404912]|Hereditary spherocytosis type 3 [RCV000354624]|Pyropoikilocytosis, hereditary [RCV000297482]|not provided [RCV005090410] |
Chr1:158683416 [GRCh38]
Chr1:158653206 [GRCh37]
Chr1:1q23.1 |
benign|uncertain significance |
| NM_003126.4(SPTA1):c.54G>A (p.Leu18=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000349158]|Hereditary spherocytosis type 3 [RCV000294265]|Pyropoikilocytosis, hereditary [RCV000405093]|SPTA1-related disorder [RCV004549643]|not provided [RCV000658527] |
Chr1:158685318 [GRCh38]
Chr1:158655108 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.4418C>T (p.Thr1473Met) |
single nucleotide variant |
Elliptocytosis 2 [RCV000330597]|Hereditary spherocytosis type 3 [RCV000375812]|Pyropoikilocytosis, hereditary [RCV000294322]|not provided [RCV003137907] |
Chr1:158643346 [GRCh38]
Chr1:158613136 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5433-13C>A |
single nucleotide variant |
Elliptocytosis 2 [RCV000385394]|Hereditary spherocytosis type 3 [RCV000294512]|Pyropoikilocytosis, hereditary [RCV000330756] |
Chr1:158634688 [GRCh38]
Chr1:158604478 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) |
single nucleotide variant |
Elliptocytosis 2 [RCV000389064]|Hereditary spherocytosis type 3 [RCV000349617]|Pyropoikilocytosis, hereditary [RCV000294742]|not provided [RCV000917707] |
Chr1:158642454 [GRCh38]
Chr1:158612244 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) |
single nucleotide variant |
Elliptocytosis 2 [RCV000361908]|Hereditary spherocytosis type 3 [RCV000397160]|Pyropoikilocytosis, hereditary [RCV000297861]|SPTA1-related disorder [RCV004549640]|not provided [RCV001507481] |
Chr1:158642855 [GRCh38]
Chr1:158612645 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.5566-10A>G |
single nucleotide variant |
Elliptocytosis 2 [RCV000399669]|Hereditary spherocytosis type 3 [RCV000298769]|Pyropoikilocytosis, hereditary [RCV000355930]|not provided [RCV003765705] |
Chr1:158627733 [GRCh38]
Chr1:158597523 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1834-16_1834-14del |
deletion |
Elliptocytosis [RCV000299198]|Pyropoikilocytosis, hereditary [RCV000340126]|Spherocytosis, Recessive [RCV000390595]|not provided [RCV001711869] |
Chr1:158668076..158668078 [GRCh38]
Chr1:158637866..158637868 [GRCh37]
Chr1:1q23.1 |
benign|uncertain significance |
| NM_003126.4(SPTA1):c.1309G>A (p.Val437Met) |
single nucleotide variant |
Elliptocytosis 2 [RCV000356499]|Hereditary spherocytosis type 3 [RCV000299284]|Pyropoikilocytosis, hereditary [RCV000403433]|not provided [RCV003137909] |
Chr1:158674370 [GRCh38]
Chr1:158644160 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3189-10C>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000397288]|Hereditary spherocytosis type 3 [RCV000361144]|Pyropoikilocytosis, hereditary [RCV000304882] |
Chr1:158652663 [GRCh38]
Chr1:158622453 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6120+11del |
deletion |
Elliptocytosis [RCV000395661]|Pyropoikilocytosis, hereditary [RCV000338625]|Spherocytosis, Recessive [RCV000300015]|not provided [RCV003765704] |
Chr1:158622972 [GRCh38]
Chr1:158592762 [GRCh37]
Chr1:1q23.1 |
benign|uncertain significance |
| NM_003126.4(SPTA1):c.2672G>A (p.Arg891Gln) |
single nucleotide variant |
Elliptocytosis 2 [RCV000300232]|Hereditary spherocytosis type 3 [RCV000393171]|Pyropoikilocytosis, hereditary [RCV000357484]|not provided [RCV004597771]|not specified [RCV004021367] |
Chr1:158657610 [GRCh38]
Chr1:158627400 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3292A>C (p.Ile1098Leu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000403843]|Hereditary spherocytosis type 3 [RCV000301313]|Pyropoikilocytosis, hereditary [RCV000335285] |
Chr1:158652550 [GRCh38]
Chr1:158622340 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV000283192]|Hereditary spherocytosis type 3 [RCV000378980]|Pyropoikilocytosis, hereditary [RCV000324353]|not provided [RCV002261033]|not specified [RCV004021365] |
Chr1:158647606 [GRCh38]
Chr1:158617396 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000378935]|Hereditary spherocytosis type 3 [RCV000340796]|Pyropoikilocytosis, hereditary [RCV000283382]|not provided [RCV000891444] |
Chr1:158620455 [GRCh38]
Chr1:158590245 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000283271]|Hereditary spherocytosis type 3 [RCV000340574]|Pyropoikilocytosis, hereditary [RCV000404635]|not provided [RCV000756701] |
Chr1:158653313 [GRCh38]
Chr1:158623103 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.679-5A>C |
single nucleotide variant |
Elliptocytosis 2 [RCV000260955]|Hereditary spherocytosis type 3 [RCV000353463]|Pyropoikilocytosis, hereditary [RCV000318369] |
Chr1:158678539 [GRCh38]
Chr1:158648329 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2484C>T (p.Ser828=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000272716]|Hereditary spherocytosis type 3 [RCV000362571]|Pyropoikilocytosis, hereditary [RCV000307982] |
Chr1:158661390 [GRCh38]
Chr1:158631180 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) |
single nucleotide variant |
Elliptocytosis 2 [RCV000273376]|Hereditary spherocytosis type 3 [RCV000365672]|Pyropoikilocytosis, hereditary [RCV000328361]|not provided [RCV000955255] |
Chr1:158677794 [GRCh38]
Chr1:158647584 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.3072C>T (p.Gly1024=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000370625]|Hereditary spherocytosis type 3 [RCV000273527]|Pyropoikilocytosis, hereditary [RCV000313651] |
Chr1:158653390 [GRCh38]
Chr1:158623180 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.174C>T (p.Phe58=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000387627]|Hereditary spherocytosis type 3 [RCV000330784]|Pyropoikilocytosis, hereditary [RCV000292120]|not provided [RCV002522065] |
Chr1:158685198 [GRCh38]
Chr1:158654988 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly) |
single nucleotide variant |
Elliptocytosis 2 [RCV000261580]|Hereditary spherocytosis type 3 [RCV000319189]|Pyropoikilocytosis, hereditary [RCV000354150]|SPTA1-related disorder [RCV004549639]|not provided [RCV002261032]|not specified [RCV004668886] |
Chr1:158626886 [GRCh38]
Chr1:158596676 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6549-4C>G |
single nucleotide variant |
Elliptocytosis 2 [RCV000318967]|Hereditary spherocytosis type 3 [RCV000353819]|Pyropoikilocytosis, hereditary [RCV000261474]|not provided [RCV004791386] |
Chr1:158617592 [GRCh38]
Chr1:158587382 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2472C>T (p.Asp824=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000327576]|Hereditary spherocytosis type 3 [RCV000386741]|Pyropoikilocytosis, hereditary [RCV000273733]|not provided [RCV000964375] |
Chr1:158661402 [GRCh38]
Chr1:158631192 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.6378G>T (p.Val2126=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000261654]|Hereditary spherocytosis type 3 [RCV000367197]|Pyropoikilocytosis, hereditary [RCV000300884]|SPTA1-related disorder [RCV004737429]|not provided [RCV003546498] |
Chr1:158620209 [GRCh38]
Chr1:158589999 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.10T>C (p.Phe4Leu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000357101]|Hereditary spherocytosis type 3 [RCV000320939]|Pyropoikilocytosis, hereditary [RCV000262000]|not specified [RCV004021368] |
Chr1:158686508 [GRCh38]
Chr1:158656298 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.243T>C (p.Tyr81=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000358555]|Hereditary spherocytosis type 3 [RCV000262252]|Pyropoikilocytosis, hereditary [RCV000301081]|not provided [RCV002519403] |
Chr1:158685129 [GRCh38]
Chr1:158654919 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe) |
single nucleotide variant |
Elliptocytosis 2 [RCV000330409]|Hereditary spherocytosis type 3 [RCV000275158]|Pyropoikilocytosis, hereditary [RCV000389646]|SPTA1-related disorder [RCV004549637]|not provided [RCV000994142] |
Chr1:158613814 [GRCh38]
Chr1:158613814..158613815 [GRCh38]
Chr1:158583604 [GRCh37]
Chr1:158583604..158583605 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6359C>G (p.Thr2120Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV000389107]|Hereditary spherocytosis type 3 [RCV000275046]|Pyropoikilocytosis, hereditary [RCV000332503]|not provided [RCV003137906] |
Chr1:158620228 [GRCh38]
Chr1:158590018 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000385681]|Hereditary spherocytosis type 3 [RCV000275888]|Pyropoikilocytosis, hereditary [RCV000333458]|SPTA1-related disorder [RCV004549641]|not provided [RCV000963777]|not specified [RCV004021366] |
Chr1:158653295 [GRCh38]
Chr1:158623085 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys) |
single nucleotide variant |
Elliptocytosis 2 [RCV000276051]|Hereditary spherocytosis type 3 [RCV000368406]|Pyropoikilocytosis, hereditary [RCV000314713]|not provided [RCV000889354] |
Chr1:158678534 [GRCh38]
Chr1:158648324 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.2323T>C (p.Phe775Leu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000370887]|Hereditary spherocytosis type 3 [RCV000276330]|Pyropoikilocytosis, hereditary [RCV000317876] |
Chr1:158662843 [GRCh38]
Chr1:158632633 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.798A>G (p.Leu266=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000376847]|Hereditary spherocytosis type 3 [RCV000284671]|Pyropoikilocytosis, hereditary [RCV000338605]|not provided [RCV000957519] |
Chr1:158678415 [GRCh38]
Chr1:158648205 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1680G>C (p.Leu560=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000338799]|Hereditary spherocytosis type 3 [RCV000374835]|Pyropoikilocytosis, hereditary [RCV000285045]|not provided [RCV000963778] |
Chr1:158669561 [GRCh38]
Chr1:158639351 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) |
single nucleotide variant |
Elliptocytosis 2 [RCV000358196]|Hereditary spherocytosis type 3 [RCV000262342]|Pyropoikilocytosis, hereditary [RCV000322140]|SPTA1-related disorder [RCV004737430]|not provided [RCV001727670]|not specified [RCV001701840] |
Chr1:158667914 [GRCh38]
Chr1:158637704 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.3037-14T>C |
single nucleotide variant |
Elliptocytosis 2 [RCV000330973]|Hereditary spherocytosis type 3 [RCV000262772]|Pyropoikilocytosis, hereditary [RCV000355418]|not provided [RCV001812778] |
Chr1:158653439 [GRCh38]
Chr1:158623229 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp) |
single nucleotide variant |
Elliptocytosis 2 [RCV000384468]|Hereditary spherocytosis type 3 [RCV000276563]|Pyropoikilocytosis, hereditary [RCV000326856]|not provided [RCV002522060]|not specified [RCV004021362] |
Chr1:158613821 [GRCh38]
Chr1:158583611 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6843-8T>C |
single nucleotide variant |
Elliptocytosis 2 [RCV000277195]|Hereditary spherocytosis type 3 [RCV000367289]|Pyropoikilocytosis, hereditary [RCV000312639]|not provided [RCV004691143] |
Chr1:158613875 [GRCh38]
Chr1:158583665 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1698C>T (p.Ala566=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000385978]|Hereditary spherocytosis type 3 [RCV000277582]|Pyropoikilocytosis, hereditary [RCV000331474] |
Chr1:158669543 [GRCh38]
Chr1:158639333 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.5358G>A (p.Gly1786=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000308066]|Hereditary spherocytosis type 3 [RCV000277544]|Pyropoikilocytosis, hereditary [RCV000362687]|not provided [RCV000907643] |
Chr1:158635987 [GRCh38]
Chr1:158605777 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1463T>A (p.Val488Glu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000285779]|Hereditary spherocytosis type 3 [RCV000377960]|Pyropoikilocytosis, hereditary [RCV000343099] |
Chr1:158672084 [GRCh38]
Chr1:158641874 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3940T>C (p.Ser1314Pro) |
single nucleotide variant |
Elliptocytosis 2 [RCV000367083]|Hereditary spherocytosis type 3 [RCV000331062]|Pyropoikilocytosis, hereditary [RCV000263247]|not provided [RCV001248300] |
Chr1:158645551 [GRCh38]
Chr1:158615341 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.4969T>C (p.Leu1657=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000367316]|Hereditary spherocytosis type 3 [RCV000299700]|Pyropoikilocytosis, hereditary [RCV000263330] |
Chr1:158639593 [GRCh38]
Chr1:158609383 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1533A>G (p.Ala511=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000375177]|Hereditary spherocytosis type 3 [RCV000321040]|Pyropoikilocytosis, hereditary [RCV000263566]|SPTA1-related disorder [RCV004549642]|not provided [RCV000973287] |
Chr1:158671409 [GRCh38]
Chr1:158641199 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr) |
single nucleotide variant |
Elliptocytosis 2 [RCV000263914]|Hereditary spherocytosis type 3 [RCV000319040]|Pyropoikilocytosis, hereditary [RCV000354020]|not provided [RCV001508912]|not specified [RCV004857715] |
Chr1:158662899 [GRCh38]
Chr1:158632689 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.480C>G (p.Phe160Leu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000321406]|Hereditary spherocytosis type 3 [RCV000375357]|Pyropoikilocytosis, hereditary [RCV000263995] |
Chr1:158681578 [GRCh38]
Chr1:158651368 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1308C>T (p.Leu436=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000321506]|Hereditary spherocytosis type 3 [RCV000264057]|Pyropoikilocytosis, hereditary [RCV000360010] |
Chr1:158674371 [GRCh38]
Chr1:158644161 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3188+8C>G |
single nucleotide variant |
Elliptocytosis 2 [RCV000364670]|Hereditary spherocytosis type 3 [RCV000264139]|Pyropoikilocytosis, hereditary [RCV000302952]|not provided [RCV003480581] |
Chr1:158653266 [GRCh38]
Chr1:158623056 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly) |
single nucleotide variant |
Elliptocytosis 2 [RCV000286388]|Hereditary spherocytosis type 3 [RCV000396283]|Pyropoikilocytosis, hereditary [RCV000341337]|not provided [RCV001731572]|not specified [RCV004021363] |
Chr1:158613859 [GRCh38]
Chr1:158583649 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6121-11del |
deletion |
Elliptocytosis [RCV000395660]|Pyropoikilocytosis, hereditary [RCV000335060]|Spherocytosis, Recessive [RCV000286947]|not provided [RCV002519401] |
Chr1:158620477 [GRCh38]
Chr1:158590267 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000287191]|Hereditary spherocytosis type 3 [RCV000395414]|Pyropoikilocytosis, hereditary [RCV000342148]|not provided [RCV000946508] |
Chr1:158635957 [GRCh38]
Chr1:158605747 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5643A>G (p.Gln1881=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000389325]|Hereditary spherocytosis type 3 [RCV000345274]|Pyropoikilocytosis, hereditary [RCV000287723] |
Chr1:158627646 [GRCh38]
Chr1:158597436 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000328774]|Hereditary spherocytosis type 3 [RCV000264359]|Pyropoikilocytosis, hereditary [RCV000377905]|not provided [RCV000898683] |
Chr1:158639912 [GRCh38]
Chr1:158609702 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV000405289]|Hereditary spherocytosis type 3 [RCV000278510]|Pyropoikilocytosis, hereditary [RCV000335941]|not provided [RCV000756700] |
Chr1:158653302 [GRCh38]
Chr1:158623092 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1691G>A (p.Arg564Gln) |
single nucleotide variant |
Elliptocytosis 2 [RCV000373220]|Hereditary spherocytosis type 3 [RCV000279124]|Pyropoikilocytosis, hereditary [RCV000332523]|not provided [RCV003488507] |
Chr1:158669550 [GRCh38]
Chr1:158639340 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1834-15_1834-14del |
deletion |
Elliptocytosis [RCV000405215]|Pyropoikilocytosis, hereditary [RCV000334376]|Spherocytosis, Recessive [RCV000279670]|not provided [RCV001594930] |
Chr1:158668076..158668077 [GRCh38]
Chr1:158637866..158637867 [GRCh37]
Chr1:1q23.1 |
benign|uncertain significance |
| NM_003126.4(SPTA1):c.2822A>G (p.His941Arg) |
single nucleotide variant |
Elliptocytosis 2 [RCV000288458]|Hereditary spherocytosis type 3 [RCV000403212]|Pyropoikilocytosis, hereditary [RCV000345790]|not provided [RCV005090408] |
Chr1:158656640 [GRCh38]
Chr1:158626430 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) |
single nucleotide variant |
Elliptocytosis 2 [RCV000381859]|Hereditary spherocytosis type 3 [RCV000288553]|Pyropoikilocytosis, hereditary [RCV000348228]|SPTA1-related disorder [RCV004549636]|not provided [RCV000756704]|not specified [RCV002465612] |
Chr1:158612847 [GRCh38]
Chr1:158582637 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2160C>T (p.Ala720=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000379325]|Hereditary spherocytosis type 3 [RCV000288709]|Pyropoikilocytosis, hereditary [RCV000343651]|not provided [RCV002227120] |
Chr1:158666376 [GRCh38]
Chr1:158636166 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1396G>C (p.Asp466His) |
single nucleotide variant |
Elliptocytosis 2 [RCV000289251]|Hereditary spherocytosis type 3 [RCV000346363]|Pyropoikilocytosis, hereditary [RCV000381265] |
Chr1:158672151 [GRCh38]
Chr1:158641941 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.224T>C (p.Ile75Thr) |
single nucleotide variant |
Elliptocytosis 2 [RCV000380383]|Hereditary spherocytosis type 3 [RCV000323519]|Pyropoikilocytosis, hereditary [RCV000266135] |
Chr1:158685148 [GRCh38]
Chr1:158654938 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.3477+10G>C |
single nucleotide variant |
Elliptocytosis 2 [RCV000289697]|Hereditary spherocytosis type 3 [RCV000351701]|Pyropoikilocytosis, hereditary [RCV000381698] |
Chr1:158651357 [GRCh38]
Chr1:158621147 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6868C>T (p.Arg2290Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV000376477]|Hereditary spherocytosis type 3 [RCV000340450]|Pyropoikilocytosis, hereditary [RCV000290115]|not provided [RCV003137905] |
Chr1:158613842 [GRCh38]
Chr1:158583632 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000336338]|Hereditary spherocytosis type 3 [RCV000406503]|Pyropoikilocytosis, hereditary [RCV000281272]|not provided [RCV000888387] |
Chr1:158644289 [GRCh38]
Chr1:158614079 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.812+7A>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000281275]|Hereditary spherocytosis type 3 [RCV000372799]|Pyropoikilocytosis, hereditary [RCV000315782]|not provided [RCV005090409] |
Chr1:158678394 [GRCh38]
Chr1:158648184 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.444G>A (p.Leu148=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000290114]|Hereditary spherocytosis type 3 [RCV000347371]|Pyropoikilocytosis, hereditary [RCV000382021] |
Chr1:158681614 [GRCh38]
Chr1:158651404 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6530+15A>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000347384]|Hereditary spherocytosis type 3 [RCV000290666]|Pyropoikilocytosis, hereditary [RCV000395812]|not provided [RCV001812775] |
Chr1:158619207 [GRCh38]
Chr1:158588997 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5093T>C (p.Val1698Ala) |
single nucleotide variant |
Elliptocytosis 2 [RCV000376040]|Hereditary spherocytosis type 3 [RCV000340130]|Pyropoikilocytosis, hereditary [RCV000291032]|not provided [RCV002522062] |
Chr1:158638129 [GRCh38]
Chr1:158607919 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.5808G>A (p.Lys1936=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000360023]|Hereditary spherocytosis type 3 [RCV000315795]|Pyropoikilocytosis, hereditary [RCV000267651]|SPTA1-related disorder [RCV004549638] |
Chr1:158626864 [GRCh38]
Chr1:158596654 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.4919C>G (p.Ala1640Gly) |
single nucleotide variant |
Elliptocytosis 2 [RCV000268123]|Hereditary spherocytosis type 3 [RCV000353537]|Pyropoikilocytosis, hereditary [RCV000323216]|not provided [RCV005090407] |
Chr1:158639643 [GRCh38]
Chr1:158609433 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile) |
single nucleotide variant |
Elliptocytosis 2 [RCV000291374]|Hereditary spherocytosis type 3 [RCV000340503]|Pyropoikilocytosis, hereditary [RCV000383387]|not provided [RCV002519402] |
Chr1:158648526 [GRCh38]
Chr1:158618316 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2654G>A (p.Arg885His) |
single nucleotide variant |
Elliptocytosis 2 [RCV000383190]|Hereditary spherocytosis type 3 [RCV000321556]|Pyropoikilocytosis, hereditary [RCV000268482] |
Chr1:158657628 [GRCh38]
Chr1:158627418 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4430G>A (p.Arg1477His) |
single nucleotide variant |
Elliptocytosis 2 [RCV000388267]|Hereditary spherocytosis type 3 [RCV000333741]|Pyropoikilocytosis, hereditary [RCV000269270] |
Chr1:158643334 [GRCh38]
Chr1:158613124 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6233T>A (p.Ile2078Asn) |
single nucleotide variant |
Elliptocytosis 2 [RCV000269191]|Hereditary spherocytosis type 3 [RCV000383425]|Pyropoikilocytosis, hereditary [RCV000326541]|not provided [RCV003718149] |
Chr1:158620354 [GRCh38]
Chr1:158590144 [GRCh37]
Chr1:1q23.1 |
benign|uncertain significance |
| NM_003126.4(SPTA1):c.4637A>G (p.His1546Arg) |
single nucleotide variant |
Elliptocytosis 2 [RCV000281612]|Hereditary spherocytosis type 3 [RCV000404847]|Pyropoikilocytosis, hereditary [RCV000336701]|not provided [RCV001507478] |
Chr1:158642511 [GRCh38]
Chr1:158612301 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe) |
single nucleotide variant |
Elliptocytosis 2 [RCV000281691]|Hereditary spherocytosis type 3 [RCV000336491]|Pyropoikilocytosis, hereditary [RCV000405152]|not provided [RCV003480580] |
Chr1:158635935 [GRCh38]
Chr1:158605725 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000384027]|Hereditary spherocytosis type 3 [RCV000327229]|Pyropoikilocytosis, hereditary [RCV000269779]|not provided [RCV001509090] |
Chr1:158685180 [GRCh38]
Chr1:158654970 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) |
single nucleotide variant |
Elliptocytosis 2 [RCV000305247]|Hereditary spherocytosis type 3 [RCV000270128]|Pyropoikilocytosis, hereditary [RCV000360076]|not provided [RCV000958506] |
Chr1:158669424 [GRCh38]
Chr1:158639214 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.854C>T (p.Pro285Leu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000270889]|Hereditary spherocytosis type 3 [RCV000306195]|Pyropoikilocytosis, hereditary [RCV000363208] |
Chr1:158677793 [GRCh38]
Chr1:158647583 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe) |
single nucleotide variant |
Elliptocytosis 2 [RCV000307142]|Hereditary spherocytosis type 3 [RCV000366492]|Pyropoikilocytosis, hereditary [RCV000271802]|not provided [RCV000880557] |
Chr1:158669510 [GRCh38]
Chr1:158639300 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) |
single nucleotide variant |
Elliptocytosis 2 [RCV000336545]|Hereditary spherocytosis type 3 [RCV000282656]|Pyropoikilocytosis, hereditary [RCV000374793]|not provided [RCV001507997] |
Chr1:158623192 [GRCh38]
Chr1:158592982 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) |
single nucleotide variant |
Elliptocytosis 2 [RCV000259777]|Hereditary spherocytosis type 3 [RCV000373123]|Pyropoikilocytosis, hereditary [RCV000318383]|not provided [RCV001356359]|not specified [RCV004021364] |
Chr1:158647596 [GRCh38]
Chr1:158617386 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000301039]|Hereditary spherocytosis type 3 [RCV000355821]|Pyropoikilocytosis, hereditary [RCV000259929]|not provided [RCV001859750]|not specified [RCV004021361] |
Chr1:158612960 [GRCh38]
Chr1:158582750 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2655T>C (p.Arg885=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000260148]|Hereditary spherocytosis type 3 [RCV000298890]|Pyropoikilocytosis, hereditary [RCV000360836]|not provided [RCV000895045] |
Chr1:158657627 [GRCh38]
Chr1:158627417 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.2572A>G (p.Lys858Glu) |
single nucleotide variant |
Elliptocytosis [RCV000324918]|Pyropoikilocytosis, hereditary [RCV000272237]|Spherocytosis, Recessive [RCV000382102] |
Chr1:158661302 [GRCh38]
Chr1:158631092 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3171G>A (p.Gln1057=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000363427]|Hereditary spherocytosis type 3 [RCV000272464]|Pyropoikilocytosis, hereditary [RCV000325119]|not provided [RCV000955799] |
Chr1:158653291 [GRCh38]
Chr1:158623081 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000359753]|Hereditary spherocytosis type 3 [RCV000324672]|Pyropoikilocytosis, hereditary [RCV000267463]|not provided [RCV000224296] |
Chr1:158617578 [GRCh38]
Chr1:158587368 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.3108C>T (p.His1036=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000362499]|Hereditary spherocytosis type 3 [RCV000310230]|Pyropoikilocytosis, hereditary [RCV000395152]|not provided [RCV002059337] |
Chr1:158653354 [GRCh38]
Chr1:158623144 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098199]|Hereditary spherocytosis type 3 [RCV001098198]|Pyropoikilocytosis, hereditary [RCV001098200]|not provided [RCV000756694] |
Chr1:158669538 [GRCh38]
Chr1:158639328 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098795]|Hereditary spherocytosis type 3 [RCV001098794]|Pyropoikilocytosis, hereditary [RCV001098793]|SPTA1-related disorder [RCV004547948]|not provided [RCV000756695] |
Chr1:158685339 [GRCh38]
Chr1:158655129 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.7072G>A (p.Glu2358Lys) |
single nucleotide variant |
not provided [RCV000756696] |
Chr1:158612879 [GRCh38]
Chr1:158582669 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV001336018]|not provided [RCV000756698] |
Chr1:158615373 [GRCh38]
Chr1:158585163 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.438G>C (p.Leu146=) |
single nucleotide variant |
not provided [RCV000756699] |
Chr1:158681620 [GRCh38]
Chr1:158651410 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp) |
single nucleotide variant |
Elliptocytosis 2 [RCV001096950]|Hereditary spherocytosis type 3 [RCV001102356]|Pyropoikilocytosis, hereditary [RCV001102357]|not provided [RCV000756702] |
Chr1:158681606 [GRCh38]
Chr1:158651396 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV005047015]|not provided [RCV001811467]|not specified [RCV004027134] |
Chr1:158654693 [GRCh38]
Chr1:158624483 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) |
single nucleotide variant |
Elliptocytosis 2 [RCV001101376]|Hereditary spherocytosis type 3 [RCV001101375]|Pyropoikilocytosis, hereditary [RCV001101377]|not provided [RCV000756706] |
Chr1:158652612 [GRCh38]
Chr1:158622402 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6789-8del |
deletion |
Elliptocytosis 2 [RCV002502160]|Elliptocytosis [RCV000350707]|Pyropoikilocytosis, hereditary [RCV000397702]|Spherocytosis, Recessive [RCV000306238]|not provided [RCV002519400]|not specified [RCV000506143] |
Chr1:158614314 [GRCh38]
Chr1:158584104 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp) |
single nucleotide variant |
Elliptocytosis 2 [RCV000393037]|Hereditary spherocytosis type 3 [RCV000306827]|Pyropoikilocytosis, hereditary [RCV000342017]|not provided [RCV000889353] |
Chr1:158678420 [GRCh38]
Chr1:158648210 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr) |
single nucleotide variant |
Elliptocytosis 2 [RCV000404400]|Hereditary spherocytosis type 3 [RCV000345433]|Pyropoikilocytosis, hereditary [RCV000311351]|not provided [RCV001850491] |
Chr1:158678438 [GRCh38]
Chr1:158648228 [GRCh37]
Chr1:1q23.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000311578]|Elliptocytosis 2 [RCV002504030]|Hereditary spherocytosis type 3 [RCV000365392]|Pyropoikilocytosis, hereditary [RCV000395348]|not provided [RCV000756689] |
Chr1:158662813 [GRCh38]
Chr1:158632603 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5004A>G (p.Thr1668=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000312599]|Hereditary spherocytosis type 3 [RCV000352055]|Pyropoikilocytosis, hereditary [RCV000394246] |
Chr1:158638218 [GRCh38]
Chr1:158608008 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5911-17_5911-8del |
deletion |
Elliptocytosis [RCV000352392]|Pyropoikilocytosis, hereditary [RCV000308212]|Spherocytosis, Recessive [RCV000397704]|not provided [RCV000962929] |
Chr1:158623200..158623209 [GRCh38]
Chr1:158592990..158592999 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.441C>T (p.Thr147=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000391495]|Elliptocytosis 2 [RCV002502162]|Hereditary spherocytosis type 3 [RCV000351285]|Pyropoikilocytosis, hereditary [RCV000312937]|not provided [RCV000963779] |
Chr1:158681617 [GRCh38]
Chr1:158651407 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.1350+13A>G |
single nucleotide variant |
Elliptocytosis 2 [RCV000353367]|Hereditary spherocytosis type 3 [RCV000403710]|Pyropoikilocytosis, hereditary [RCV000314938]|not provided [RCV004691145] |
Chr1:158674316 [GRCh38]
Chr1:158644106 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1600-10A>G |
single nucleotide variant |
Elliptocytosis 2 [RCV000345760]|Hereditary spherocytosis type 3 [RCV000308684]|Pyropoikilocytosis, hereditary [RCV000405346]|not provided [RCV000961006] |
Chr1:158669796 [GRCh38]
Chr1:158639586 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.25G>T (p.Val9Phe) |
single nucleotide variant |
Elliptocytosis 2 [RCV000309368]|Hereditary spherocytosis type 3 [RCV000364094]|Pyropoikilocytosis, hereditary [RCV000403151]|not provided [RCV001508012] |
Chr1:158685347 [GRCh38]
Chr1:158655137 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6531-12C>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000388225]|Hemolytic anemia [RCV001003793]|Hereditary spherocytosis type 3 [RCV000296410]|Pyropoikilocytosis, hereditary [RCV000344309]|not provided [RCV001610635]|not specified [RCV000249337] |
Chr1:158618068 [GRCh38]
Chr1:158587858 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.4344G>A (p.Gly1448=) |
single nucleotide variant |
not specified [RCV000249472] |
Chr1:158643420 [GRCh38]
Chr1:158613210 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.958-10C>A |
single nucleotide variant |
Elliptocytosis 2 [RCV000291819]|Hereditary spherocytosis type 3 [RCV000387207]|Pyropoikilocytosis, hereditary [RCV000330387]|not provided [RCV000883963]|not specified [RCV000250196] |
Chr1:158676305 [GRCh38]
Chr1:158646095 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.867T>C (p.Ser289=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000359725]|Hereditary spherocytosis type 3 [RCV000402684]|Pyropoikilocytosis, hereditary [RCV000302619]|not provided [RCV000756692]|not specified [RCV000250280] |
Chr1:158677780 [GRCh38]
Chr1:158647570 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.2757A>G (p.Glu919=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000315017]|Hereditary spherocytosis type 3 [RCV000406283]|Pyropoikilocytosis, hereditary [RCV000367899]|not provided [RCV001812717]|not specified [RCV000250934] |
Chr1:158657525 [GRCh38]
Chr1:158627315 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5310+20T>C |
single nucleotide variant |
not specified [RCV000251746] |
Chr1:158636621 [GRCh38]
Chr1:158606411 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.390+17T>C |
single nucleotide variant |
not provided [RCV001812719]|not specified [RCV000251829] |
Chr1:158683354 [GRCh38]
Chr1:158653144 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5958C>T (p.Pro1986=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000380670]|Hereditary spherocytosis type 3 [RCV000323665]|Pyropoikilocytosis, hereditary [RCV000279169]|not provided [RCV001812723]|not specified [RCV000252492] |
Chr1:158623145 [GRCh38]
Chr1:158592935 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.6112C>T (p.Leu2038=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000312291]|Hereditary spherocytosis type 3 [RCV000277076]|Pyropoikilocytosis, hereditary [RCV000369317]|not provided [RCV001618424]|not specified [RCV000252797] |
Chr1:158622991 [GRCh38]
Chr1:158592781 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.7095A>G (p.Ala2365=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000395962]|Hereditary spherocytosis type 3 [RCV000303847]|Pyropoikilocytosis, hereditary [RCV000339855]|not provided [RCV001651173]|not specified [RCV000252916] |
Chr1:158612856 [GRCh38]
Chr1:158582646 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.126C>T (p.Val42=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000391731]|Hereditary spherocytosis type 3 [RCV000334391]|Pyropoikilocytosis, hereditary [RCV000295740]|not provided [RCV001683034]|not specified [RCV000253444] |
Chr1:158685246 [GRCh38]
Chr1:158655036 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.915T>C (p.Ser305=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000405166]|Hereditary spherocytosis type 3 [RCV000279926]|Pyropoikilocytosis, hereditary [RCV000337268]|not provided [RCV001668489]|not specified [RCV000253635] |
Chr1:158677732 [GRCh38]
Chr1:158647522 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.4195-12G>A |
single nucleotide variant |
Elliptocytosis 2 [RCV000309758]|Hereditary spherocytosis type 3 [RCV000395232]|Pyropoikilocytosis, hereditary [RCV000364488]|not provided [RCV001683036]|not specified [RCV000253721] |
Chr1:158644408 [GRCh38]
Chr1:158644408..158644409 [GRCh38]
Chr1:158614198 [GRCh37]
Chr1:158614198..158614199 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.6549-12G>A |
single nucleotide variant |
Elliptocytosis 2 [RCV000375561]|Hemolytic anemia [RCV001003792]|Hereditary spherocytosis type 3 [RCV000331337]|Pyropoikilocytosis, hereditary [RCV000292855]|not provided [RCV001640528]|not specified [RCV000254335] |
Chr1:158617600 [GRCh38]
Chr1:158587390 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.4477C>T (p.Arg1493Trp) |
single nucleotide variant |
not provided [RCV001812720]|not specified [RCV000246070] |
Chr1:158642942 [GRCh38]
Chr1:158612732 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000358604]|Hereditary spherocytosis type 3 [RCV000303619]|Pyropoikilocytosis, hereditary [RCV000397152]|not provided [RCV001507482]|not specified [RCV000251009] |
Chr1:158642929 [GRCh38]
Chr1:158612719 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.*276T>C |
single nucleotide variant |
Elliptocytosis 2 [RCV000283627]|Hereditary spherocytosis type 3 [RCV000343417]|Pyropoikilocytosis, hereditary [RCV000393253]|not provided [RCV001642900] |
Chr1:158610988 [GRCh38]
Chr1:158580778 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.*167A>G |
single nucleotide variant |
Elliptocytosis 2 [RCV000335063]|Hereditary spherocytosis type 3 [RCV000402302]|Pyropoikilocytosis, hereditary [RCV000279970]|not provided [RCV001689968] |
Chr1:158611097 [GRCh38]
Chr1:158580887 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV000267684]|Hereditary spherocytosis type 3 [RCV000382110]|Pyropoikilocytosis, hereditary [RCV000325111]|not provided [RCV000966764]|not specified [RCV000248680] |
Chr1:158676175 [GRCh38]
Chr1:158645965 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2558C>G (p.Thr853Arg) |
single nucleotide variant |
Elliptocytosis 2 [RCV000294754]|Hereditary spherocytosis type 3 [RCV000385468]|Pyropoikilocytosis, hereditary [RCV000351870]|not provided [RCV001812716]|not specified [RCV000246411] |
Chr1:158661316 [GRCh38]
Chr1:158631106 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5992G>C (p.Ala1998Pro) |
single nucleotide variant |
Elliptocytosis 2 [RCV000328494]|Hereditary spherocytosis type 3 [RCV000266236]|Pyropoikilocytosis, hereditary [RCV000377087]|not provided [RCV001651172]|not specified [RCV000244078] |
Chr1:158623111 [GRCh38]
Chr1:158592901 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.2102G>A (p.Arg701His) |
single nucleotide variant |
Elliptocytosis 2 [RCV000406088]|Hereditary spherocytosis type 3 [RCV000349654]|Pyropoikilocytosis, hereditary [RCV000289825]|not provided [RCV001812712]|not specified [RCV000253948] |
Chr1:158666434 [GRCh38]
Chr1:158636224 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) |
single nucleotide variant |
Elliptocytosis 2 [RCV000370629]|Hereditary spherocytosis type 3 [RCV000276121]|Pyropoikilocytosis, hereditary [RCV000306399]|not provided [RCV000755399]|not specified [RCV000249163] |
Chr1:158645502 [GRCh38]
Chr1:158615292 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV000323182]|Hereditary spherocytosis type 3 [RCV000268090]|Pyropoikilocytosis, hereditary [RCV000381211]|not provided [RCV000756691]|not specified [RCV000249178] |
Chr1:158667938 [GRCh38]
Chr1:158667938..158667939 [GRCh38]
Chr1:158637728 [GRCh37]
Chr1:158637728..158637729 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.454G>A (p.Asp152Asn) |
single nucleotide variant |
Elliptocytosis 2 [RCV000343740]|Hereditary spherocytosis type 3 [RCV000378476]|Pyropoikilocytosis, hereditary [RCV000286378]|not provided [RCV000756693]|not specified [RCV000241924] |
Chr1:158681604 [GRCh38]
Chr1:158651394 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5507A>G (p.Asn1836Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV000325061]|Hereditary spherocytosis type 3 [RCV000388994]|Pyropoikilocytosis, hereditary [RCV000270127]|not provided [RCV001689841]|not specified [RCV000242084] |
Chr1:158634601 [GRCh38]
Chr1:158604391 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.3487T>G (p.Ser1163Ala) |
single nucleotide variant |
Elliptocytosis 2 [RCV000268434]|Hereditary spherocytosis type 3 [RCV000321216]|Pyropoikilocytosis, hereditary [RCV000354195]|not provided [RCV001689840]|not specified [RCV000251930] |
Chr1:158649938 [GRCh38]
Chr1:158619728 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) |
single nucleotide variant |
Elliptocytosis 2 [RCV000395816]|Hereditary spherocytosis type 3 [RCV000302916]|Pyropoikilocytosis, hereditary [RCV000359954]|not provided [RCV000756690]|not specified [RCV000244790] |
Chr1:158619315 [GRCh38]
Chr1:158619315..158619316 [GRCh38]
Chr1:158589105 [GRCh37]
Chr1:158589105..158589106 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) |
single nucleotide variant |
Elliptocytosis 2 [RCV000364331]|Hereditary spherocytosis type 3 [RCV000328386]|Pyropoikilocytosis, hereditary [RCV000273231]|not provided [RCV000755398]|not specified [RCV000254479] |
Chr1:158642966 [GRCh38]
Chr1:158612756 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg) |
single nucleotide variant |
Elliptocytosis 2 [RCV000383306]|Hereditary spherocytosis type 3 [RCV000288918]|Pyropoikilocytosis, hereditary [RCV000325129]|not provided [RCV001668488]|not specified [RCV000244890] |
Chr1:158642446 [GRCh38]
Chr1:158612236 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5077A>C (p.Lys1693Gln) |
single nucleotide variant |
Elliptocytosis 2 [RCV000345998]|Hereditary spherocytosis type 3 [RCV000306625]|Pyropoikilocytosis, hereditary [RCV000394217]|not provided [RCV001812721]|not specified [RCV000249864] |
Chr1:158638145 [GRCh38]
Chr1:158638145..158638146 [GRCh38]
Chr1:158607935 [GRCh37]
Chr1:158607935..158607936 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6046C>T (p.Arg2016Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV000271130]|Hereditary spherocytosis type 3 [RCV000363376]|Pyropoikilocytosis, hereditary [RCV000306328]|not provided [RCV001598639]|not specified [RCV000247439] |
Chr1:158623057 [GRCh38]
Chr1:158592847 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) |
single nucleotide variant |
Elliptocytosis 2 [RCV000304497]|Hemolytic anemia [RCV001003794]|Hereditary spherocytosis type 3 [RCV000395775]|Pyropoikilocytosis, hereditary [RCV000361633]|not provided [RCV001731550]|not specified [RCV000247499] |
Chr1:158627717 [GRCh38]
Chr1:158597507 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|no classifications from unflagged records |
| NM_003126.4(SPTA1):c.*133C>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000270194]|Hereditary spherocytosis type 3 [RCV000369888]|Pyropoikilocytosis, hereditary [RCV000315165] |
Chr1:158611131 [GRCh38]
Chr1:158580921 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val) |
single nucleotide variant |
Elliptocytosis 2 [RCV000346880]|Hereditary spherocytosis type 3 [RCV000284789]|Pyropoikilocytosis, hereditary [RCV000376991]|not provided [RCV000955254]|not specified [RCV000242917] |
Chr1:158656592 [GRCh38]
Chr1:158626382 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.2425A>G (p.Ile809Val) |
single nucleotide variant |
Elliptocytosis 2 [RCV000374884]|Hereditary spherocytosis type 3 [RCV000280597]|Pyropoikilocytosis, hereditary [RCV000334307]|not provided [RCV001812714]|not specified [RCV000250522] |
Chr1:158662741 [GRCh38]
Chr1:158632531 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.*295C>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000327199]|Hereditary spherocytosis type 3 [RCV000276876]|Pyropoikilocytosis, hereditary [RCV000381764]|not provided [RCV001594929] |
Chr1:158610969 [GRCh38]
Chr1:158580759 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.3066T>C (p.His1022=) |
single nucleotide variant |
not specified [RCV000241590] |
Chr1:158653396 [GRCh38]
Chr1:158623186 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5118C>T (p.His1706=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000315881]|Hereditary spherocytosis type 3 [RCV000379676]|Pyropoikilocytosis, hereditary [RCV000285325]|not provided [RCV002058133]|not specified [RCV000242204] |
Chr1:158638104 [GRCh38]
Chr1:158607894 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.2493T>G (p.Leu831=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000361554]|Hereditary spherocytosis type 3 [RCV000266843]|Pyropoikilocytosis, hereditary [RCV000302197]|not provided [RCV001812715]|not specified [RCV000243041] |
Chr1:158661381 [GRCh38]
Chr1:158631171 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.3570-12C>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000355230]|Hereditary spherocytosis type 3 [RCV000297023]|Pyropoikilocytosis, hereditary [RCV000262986]|not provided [RCV001812718]|not specified [RCV000243925] |
Chr1:158648665 [GRCh38]
Chr1:158618455 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=) |
single nucleotide variant |
Elliptocytosis 2 [RCV001099280]|Hereditary spherocytosis type 3 [RCV001097517]|Pyropoikilocytosis, hereditary [RCV001099281]|not provided [RCV000891236]|not specified [RCV000244199] |
Chr1:158645531 [GRCh38]
Chr1:158615321 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.813-7A>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000295806]|Hereditary spherocytosis type 3 [RCV000330862]|Pyropoikilocytosis, hereditary [RCV000387696]|not provided [RCV001651174]|not specified [RCV000244912] |
Chr1:158677841 [GRCh38]
Chr1:158647631 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.942T>A (p.Ala314=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000352376]|Hereditary spherocytosis type 3 [RCV000393758]|Pyropoikilocytosis, hereditary [RCV000295281]|not provided [RCV001675721]|not specified [RCV000245233] |
Chr1:158677705 [GRCh38]
Chr1:158647495 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.1350+14A>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000390991]|Hereditary spherocytosis type 3 [RCV000292655]|Pyropoikilocytosis, hereditary [RCV000349975]|not provided [RCV001683035]|not specified [RCV000245243] |
Chr1:158674315 [GRCh38]
Chr1:158644105 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.4339-46A>G |
single nucleotide variant |
not specified [RCV000245747] |
Chr1:158643471 [GRCh38]
Chr1:158613261 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.24+3A>G |
single nucleotide variant |
Elliptocytosis 2 [RCV000265784]|Hereditary spherocytosis type 3 [RCV000360416]|Pyropoikilocytosis, hereditary [RCV000305880]|not provided [RCV001812713]|not specified [RCV000245775] |
Chr1:158686491 [GRCh38]
Chr1:158656281 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.3477+15C>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000271973]|Hereditary spherocytosis type 3 [RCV000329462]|Pyropoikilocytosis, hereditary [RCV000378108]|not provided [RCV002519915]|not specified [RCV000246583] |
Chr1:158651352 [GRCh38]
Chr1:158621142 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.2874G>A (p.Leu958=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000323972]|Hereditary spherocytosis type 3 [RCV000285271]|Pyropoikilocytosis, hereditary [RCV000372788]|not provided [RCV001668487]|not specified [RCV000246681] |
Chr1:158656588 [GRCh38]
Chr1:158656588..158656589 [GRCh38]
Chr1:158626378 [GRCh37]
Chr1:158626378..158626379 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5292C>A (p.Ala1764=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000320004]|Hereditary spherocytosis type 3 [RCV000374595]|Pyropoikilocytosis, hereditary [RCV000260604]|not provided [RCV001812722]|not specified [RCV000247206] |
Chr1:158636659 [GRCh38]
Chr1:158606449 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000343868]|Elliptocytosis 2 [RCV002500899]|Hereditary spherocytosis type 3 [RCV000313438]|Pyropoikilocytosis, hereditary [RCV000405992]|not provided [RCV000955253]|not specified [RCV000248473] |
Chr1:158648530 [GRCh38]
Chr1:158618320 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) |
single nucleotide variant |
Elliptocytosis 2 [RCV000363285]|Familial hemolytic anemia [RCV000655920]|not provided [RCV001812724]|not specified [RCV000243484] |
Chr1:158615332 [GRCh38]
Chr1:158585122 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|benign|likely benign|uncertain significance|no classifications from unflagged records |
| NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr) |
single nucleotide variant |
Elliptocytosis 2 [RCV000313584]|Hereditary spherocytosis type 3 [RCV000363626]|Pyropoikilocytosis, hereditary [RCV000269117]|not provided [RCV001696195]|not specified [RCV000248352] |
Chr1:158614301 [GRCh38]
Chr1:158584091 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.*134T>G |
single nucleotide variant |
Elliptocytosis 2 [RCV000390267]|Hereditary spherocytosis type 3 [RCV000299780]|Pyropoikilocytosis, hereditary [RCV000368760] |
Chr1:158611130 [GRCh38]
Chr1:158580920 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*500del |
deletion |
Elliptocytosis [RCV000302341]|Pyropoikilocytosis, hereditary [RCV000359579]|Spherocytosis, Recessive [RCV000398817] |
Chr1:158610764 [GRCh38]
Chr1:158580554 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.*99TG[15] |
microsatellite |
Elliptocytosis [RCV000362831]|Pyropoikilocytosis, hereditary [RCV000309177]|Spherocytosis, Recessive [RCV000401159] |
Chr1:158611132..158611135 [GRCh38]
Chr1:158580922..158580925 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*39G>A |
single nucleotide variant |
Elliptocytosis 2 [RCV000350643]|Hereditary spherocytosis type 3 [RCV000295733]|Pyropoikilocytosis, hereditary [RCV000386301] |
Chr1:158611225 [GRCh38]
Chr1:158581015 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*99TG[16] |
microsatellite |
Elliptocytosis [RCV000399229]|Pyropoikilocytosis, hereditary [RCV000313626]|Spherocytosis, Recessive [RCV000348543] |
Chr1:158611132..158611133 [GRCh38]
Chr1:158580922..158580923 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*97_*98insATGTGT |
insertion |
Elliptocytosis [RCV000261201]|Pyropoikilocytosis, hereditary [RCV000316537]|Spherocytosis, Recessive [RCV000360563]|not provided [RCV004691142] |
Chr1:158611166..158611167 [GRCh38]
Chr1:158580956..158580957 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6789-6_6789-5dup |
duplication |
Elliptocytosis [RCV000265738]|Pyropoikilocytosis, hereditary [RCV000329085]|Spherocytosis, Recessive [RCV000365078] |
Chr1:158614309..158614310 [GRCh38]
Chr1:158584099..158584100 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*99TG[18] |
microsatellite |
Elliptocytosis [RCV000365997]|Pyropoikilocytosis, hereditary [RCV000325204]|Spherocytosis, Recessive [RCV000271429] |
Chr1:158611131..158611132 [GRCh38]
Chr1:158580921..158580922 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*99TG[21] |
microsatellite |
Elliptocytosis [RCV000278574]|Pyropoikilocytosis, hereditary [RCV000373111]|Spherocytosis, Recessive [RCV000322583] |
Chr1:158611131..158611132 [GRCh38]
Chr1:158580921..158580922 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*99TG[20] |
microsatellite |
Elliptocytosis [RCV000286299]|Pyropoikilocytosis, hereditary [RCV000321848]|Spherocytosis, Recessive [RCV000376518] |
Chr1:158611131..158611132 [GRCh38]
Chr1:158580921..158580922 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6789-19_6789-18dup |
duplication |
Elliptocytosis [RCV000282449]|Pyropoikilocytosis, hereditary [RCV000317616]|Spherocytosis, Recessive [RCV000372248]|not provided [RCV002059336]|not specified [RCV000506679] |
Chr1:158614313..158614314 [GRCh38]
Chr1:158584103..158584104 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.1554T>C (p.His518=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000260605]|Hereditary spherocytosis type 3 [RCV000315883]|Pyropoikilocytosis, hereditary [RCV000369277] |
Chr1:158671388 [GRCh38]
Chr1:158641178 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5950A>T (p.Arg1984Ter) |
single nucleotide variant |
not provided [RCV000305529] |
Chr1:158623153 [GRCh38]
Chr1:158592943 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.6789-19dup |
duplication |
Elliptocytosis 2 [RCV001808744]|Elliptocytosis [RCV000320880]|Hereditary spherocytosis type 3 [RCV001808745]|Pyropoikilocytosis, hereditary [RCV000285853]|Spherocytosis, Recessive [RCV000380318]|not provided [RCV001696204] |
Chr1:158614313..158614314 [GRCh38]
Chr1:158584103..158584104 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.6789-19_6789-17dup |
duplication |
Elliptocytosis [RCV000337543]|Pyropoikilocytosis, hereditary [RCV000293485]|Spherocytosis, Recessive [RCV000397738]|not provided [RCV002519399] |
Chr1:158614313..158614314 [GRCh38]
Chr1:158584103..158584104 [GRCh37]
Chr1:1q23.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.*99TG[23] |
microsatellite |
Elliptocytosis [RCV000338228]|Pyropoikilocytosis, hereditary [RCV000293645]|Spherocytosis, Recessive [RCV000397928] |
Chr1:158611131..158611132 [GRCh38]
Chr1:158580921..158580922 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.-121dup |
duplication |
Elliptocytosis [RCV000347599]|Pyropoikilocytosis, hereditary [RCV000393054]|Spherocytosis, Recessive [RCV000288643] |
Chr1:158686637..158686638 [GRCh38]
Chr1:158656427..158656428 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.-58CT[16] |
microsatellite |
Elliptocytosis [RCV000292700]|Pyropoikilocytosis, hereditary [RCV000387011]|Spherocytosis, Recessive [RCV000332429] |
Chr1:158686557..158686558 [GRCh38]
Chr1:158656347..158656348 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.-58CT[12] |
microsatellite |
Elliptocytosis [RCV000296003]|Pyropoikilocytosis, hereditary [RCV000371759]|Spherocytosis, Recessive [RCV000317178]|not provided [RCV004691146] |
Chr1:158686557..158686558 [GRCh38]
Chr1:158656347..158656348 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*296G>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000389872]|Hereditary spherocytosis type 3 [RCV000261434]|Pyropoikilocytosis, hereditary [RCV000332992] |
Chr1:158610968 [GRCh38]
Chr1:158580758 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2244C>T (p.Asp748=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000378148]|Hereditary spherocytosis type 3 [RCV000324771]|Pyropoikilocytosis, hereditary [RCV000283634] |
Chr1:158662922 [GRCh38]
Chr1:158632712 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.-126_-125insTC |
insertion |
Elliptocytosis [RCV000300695]|Pyropoikilocytosis, hereditary [RCV000359047]|Spherocytosis, Recessive [RCV000405895] |
Chr1:158686642..158686643 [GRCh38]
Chr1:158656432..158656433 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.-126dup |
duplication |
Elliptocytosis [RCV000304312]|Pyropoikilocytosis, hereditary [RCV000343646]|Spherocytosis, Recessive [RCV000406917]|not provided [RCV001660562] |
Chr1:158686642..158686643 [GRCh38]
Chr1:158656432..158656433 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.1573T>C (p.Phe525Leu) |
single nucleotide variant |
Elliptocytosis 2 [RCV000273456]|Hereditary spherocytosis type 3 [RCV000314615]|Pyropoikilocytosis, hereditary [RCV000367947] |
Chr1:158671369 [GRCh38]
Chr1:158641159 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5304C>T (p.Ala1768=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000274309]|Hereditary spherocytosis type 3 [RCV000313968]|Pyropoikilocytosis, hereditary [RCV000368657] |
Chr1:158636647 [GRCh38]
Chr1:158606437 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5566-11T>C |
single nucleotide variant |
Elliptocytosis 2 [RCV000328727]|Hereditary spherocytosis type 3 [RCV000364688]|Pyropoikilocytosis, hereditary [RCV000264285] |
Chr1:158627734 [GRCh38]
Chr1:158597524 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*99TG[14] |
microsatellite |
Elliptocytosis [RCV000359237]|Pyropoikilocytosis, hereditary [RCV000324643]|Spherocytosis, Recessive [RCV000264778]|not provided [RCV004691141] |
Chr1:158611132..158611137 [GRCh38]
Chr1:158580922..158580927 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2461C>A (p.Leu821Ile) |
single nucleotide variant |
Elliptocytosis 2 [RCV000333485]|Hereditary spherocytosis type 3 [RCV000279285]|Pyropoikilocytosis, hereditary [RCV000387759] |
Chr1:158662705 [GRCh38]
Chr1:158632495 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1834-12_1834-10del |
deletion |
Elliptocytosis [RCV000327813]|Pyropoikilocytosis, hereditary [RCV000386957]|Spherocytosis, Recessive [RCV000291425] |
Chr1:158668072..158668074 [GRCh38]
Chr1:158637862..158637864 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5581C>A (p.His1861Asn) |
single nucleotide variant |
Elliptocytosis 2 [RCV000405631]|Hereditary spherocytosis type 3 [RCV000291440]|Pyropoikilocytosis, hereditary [RCV000339431] |
Chr1:158627708 [GRCh38]
Chr1:158597498 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2039-15T>C |
single nucleotide variant |
Elliptocytosis 2 [RCV000403029]|Hereditary spherocytosis type 3 [RCV000369327]|Pyropoikilocytosis, hereditary [RCV000314659] |
Chr1:158666512 [GRCh38]
Chr1:158636302 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*294A>G |
single nucleotide variant |
Elliptocytosis 2 [RCV000292030]|Hereditary spherocytosis type 3 [RCV000378205]|Pyropoikilocytosis, hereditary [RCV000328334] |
Chr1:158610970 [GRCh38]
Chr1:158580760 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4287G>T (p.Leu1429=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000340314]|Hereditary spherocytosis type 3 [RCV000395554]|Pyropoikilocytosis, hereditary [RCV000285249] |
Chr1:158644304 [GRCh38]
Chr1:158614094 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2015T>C (p.Leu672Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV000297196]|Hereditary spherocytosis type 3 [RCV000393338]|Pyropoikilocytosis, hereditary [RCV000356740] |
Chr1:158667881 [GRCh38]
Chr1:158637671 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1350+1G>C |
single nucleotide variant |
not provided [RCV002284350] |
Chr1:158674328 [GRCh38]
Chr1:158644118 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.3660T>C (p.Ala1220=) |
single nucleotide variant |
Elliptocytosis 2 [RCV000312362]|Hereditary spherocytosis type 3 [RCV000394178]|Pyropoikilocytosis, hereditary [RCV000351881] |
Chr1:158648563 [GRCh38]
Chr1:158618353 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5911-3C>T |
single nucleotide variant |
Elliptocytosis 2 [RCV000348893]|Hereditary spherocytosis type 3 [RCV000397689]|Pyropoikilocytosis, hereditary [RCV000313959] |
Chr1:158623195 [GRCh38]
Chr1:158592985 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7237A>T (p.Thr2413Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100072]|Hereditary spherocytosis type 3 [RCV001100073]|Pyropoikilocytosis, hereditary [RCV001100071] |
Chr1:158611287 [GRCh38]
Chr1:158581077 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7228G>A (p.Val2410Ile) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100076]|Hereditary spherocytosis type 3 [RCV001100075]|Pyropoikilocytosis, hereditary [RCV001100074]|not specified [RCV004032059] |
Chr1:158611296 [GRCh38]
Chr1:158581086 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3109G>A (p.Asp1037Asn) |
single nucleotide variant |
Elliptocytosis 2 [RCV001099501]|Hereditary spherocytosis type 3 [RCV001099499]|Pyropoikilocytosis, hereditary [RCV001099500] |
Chr1:158653353 [GRCh38]
Chr1:158623143 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6600+5G>T |
single nucleotide variant |
Familial hemolytic anemia [RCV000655916] |
Chr1:158617532 [GRCh38]
Chr1:158587322 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.2898G>A (p.Gln966=) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV000655919] |
Chr1:158656564 [GRCh38]
Chr1:158626354 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.60del (p.Ala21fs) |
deletion |
not provided [RCV001092179] |
Chr1:158685312 [GRCh38]
Chr1:158655102 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) |
single nucleotide variant |
Elliptocytosis 2 [RCV001096844]|Hereditary spherocytosis type 3 [RCV000655918]|Pyropoikilocytosis, hereditary [RCV001096843]|not provided [RCV001507992] |
Chr1:158619331 [GRCh38]
Chr1:158589121 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.3397C>T (p.Arg1133Trp) |
single nucleotide variant |
not provided [RCV003141923]|not specified [RCV001001234] |
Chr1:158651447 [GRCh38]
Chr1:158621237 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) |
single nucleotide variant |
Elliptocytosis 2 [RCV001099386]|Hereditary spherocytosis type 3 [RCV001101374]|Pyropoikilocytosis, hereditary [RCV001099387]|SPTA1-related disorder [RCV004737490]|not provided [RCV000443048] |
Chr1:158652485 [GRCh38]
Chr1:158622275 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) |
single nucleotide variant |
Elliptocytosis 2 [RCV003388582]|not provided [RCV000426517] |
Chr1:158638141 [GRCh38]
Chr1:158607931 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.7132C>T (p.Gln2378Ter) |
single nucleotide variant |
See cases [RCV003156096]|not provided [RCV000479298] |
Chr1:158612819 [GRCh38]
Chr1:158582609 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_003126.4(SPTA1):c.2876G>A (p.Arg959Gln) |
single nucleotide variant |
not provided [RCV000508214] |
Chr1:158656586 [GRCh38]
Chr1:158626376 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.836G>A (p.Trp279Ter) |
single nucleotide variant |
not provided [RCV000493924] |
Chr1:158677811 [GRCh38]
Chr1:158647601 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.3(SPTA1):c.6789-8[17] |
microsatellite |
not specified [RCV000506679] |
Chr1:158614314 [GRCh38]
Chr1:158584104 [GRCh37]
Chr1:1q23.1 |
benign |
| Single allele |
variation |
not specified [RCV000507307] |
Chr1:158614313..158614314 [GRCh38]
Chr1:158584104..158584105 [GRCh37]
Chr1:1q23.1 |
benign |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_003126.4(SPTA1):c.319C>T (p.Leu107Phe) |
single nucleotide variant |
not specified [RCV004309494] |
Chr1:158683442 [GRCh38]
Chr1:158653232 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1850dup (p.Ser618fs) |
duplication |
Hereditary spherocytosis type 3 [RCV000626486] |
Chr1:158668045..158668046 [GRCh38]
Chr1:158637835..158637836 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.6251A>T (p.Asp2084Val) |
single nucleotide variant |
not specified [RCV004324288] |
Chr1:158620336 [GRCh38]
Chr1:158590126 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter) |
single nucleotide variant |
Familial hemolytic anemia [RCV000655921] |
Chr1:158652551 [GRCh38]
Chr1:158622341 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.2755G>C (p.Glu919Gln) |
single nucleotide variant |
not specified [RCV004315437] |
Chr1:158657527 [GRCh38]
Chr1:158627317 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) |
single nucleotide variant |
Elliptocytosis 2 [RCV001099973]|Familial hemolytic anemia [RCV000655917]|Hereditary spherocytosis type 3 [RCV001099975]|Pyropoikilocytosis, hereditary [RCV001099974]|not provided [RCV002534241] |
Chr1:158669553 [GRCh38]
Chr1:158639343 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6421C>A (p.Arg2141=) |
single nucleotide variant |
not provided [RCV000513332] |
Chr1:158619331 [GRCh38]
Chr1:158589121 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5245C>T (p.Gln1749Ter) |
single nucleotide variant |
not provided [RCV003690653] |
Chr1:158636706 [GRCh38]
Chr1:158606496 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.4975C>T (p.Arg1659Ter) |
single nucleotide variant |
Pyropoikilocytosis, hereditary [RCV000681454]|not provided [RCV001756148] |
Chr1:158639587 [GRCh38]
Chr1:158609377 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.5029G>A (p.Gly1677Arg) |
single nucleotide variant |
Pyropoikilocytosis, hereditary [RCV000680210]|not provided [RCV001507475] |
Chr1:158638193 [GRCh38]
Chr1:158607983 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3787C>G (p.Gln1263Glu) |
single nucleotide variant |
not provided [RCV000677122] |
Chr1:158647648 [GRCh38]
Chr1:158617438 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1q23.1(chr1:158489545-158901383)x1 |
copy number loss |
not provided [RCV000684663] |
Chr1:158489545..158901383 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6634C>T (p.Gln2212Ter) |
single nucleotide variant |
not specified [RCV001001090] |
Chr1:158615370 [GRCh38]
Chr1:158585160 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7183T>C (p.Tyr2395His) |
single nucleotide variant |
not provided [RCV005093021]|not specified [RCV001002046] |
Chr1:158611341 [GRCh38]
Chr1:158581131 [GRCh37]
Chr1:1q23.1 |
benign|uncertain significance |
| NM_003126.4(SPTA1):c.6773A>G (p.Gln2258Arg) |
single nucleotide variant |
not specified [RCV001002363] |
Chr1:158615231 [GRCh38]
Chr1:158585021 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_003126.4(SPTA1):c.4737+89T>A |
single nucleotide variant |
not provided [RCV001541343] |
Chr1:158642322 [GRCh38]
Chr1:158612112 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4:c.2899-50_4338+50del |
deletion |
Elliptocytosis 2 [RCV001706810] |
|
uncertain significance |
| NM_003126.4(SPTA1):c.4980+301G>A |
single nucleotide variant |
not provided [RCV001645051] |
Chr1:158639281 [GRCh38]
Chr1:158609071 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.1904C>A (p.Thr635Asn) |
single nucleotide variant |
not provided [RCV001812946] |
Chr1:158667992 [GRCh38]
Chr1:158637782 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer) |
deletion |
not provided [RCV001812993] |
Chr1:158613839 [GRCh38]
Chr1:158583629 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.6714G>T (p.Leu2238Phe) |
single nucleotide variant |
not provided [RCV001812995] |
Chr1:158615290 [GRCh38]
Chr1:158585080 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6418-312G>A |
single nucleotide variant |
not provided [RCV001669064] |
Chr1:158619646 [GRCh38]
Chr1:158589436 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100622]|Hereditary spherocytosis type 3 [RCV001100623]|Pyropoikilocytosis, hereditary [RCV001100621]|not provided [RCV000917706] |
Chr1:158634651 [GRCh38]
Chr1:158604441 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.264+240A>G |
single nucleotide variant |
not provided [RCV001667963] |
Chr1:158684868 [GRCh38]
Chr1:158654658 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.532-324G>A |
single nucleotide variant |
not provided [RCV001681865] |
Chr1:158681053 [GRCh38]
Chr1:158650843 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.4177C>T (p.Gln1393Ter) |
single nucleotide variant |
Hemolytic anemia [RCV001003795] |
Chr1:158645205 [GRCh38]
Chr1:158614995 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter) |
single nucleotide variant |
Hemolytic anemia [RCV001003797]|not provided [RCV003490007] |
Chr1:158662813 [GRCh38]
Chr1:158632603 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.2899-241A>G |
single nucleotide variant |
not provided [RCV001645774] |
Chr1:158654989 [GRCh38]
Chr1:158624779 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6701G>A (p.Ser2234Asn) |
single nucleotide variant |
not specified [RCV004320636] |
Chr1:158615303 [GRCh38]
Chr1:158585093 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2245C>A (p.Leu749Met) |
single nucleotide variant |
Elliptocytosis 2 [RCV001101774]|Hereditary spherocytosis type 3 [RCV001096354]|Pyropoikilocytosis, hereditary [RCV001101773]|not provided [RCV003142043] |
Chr1:158662921 [GRCh38]
Chr1:158632711 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5882G>A (p.Gly1961Asp) |
single nucleotide variant |
not specified [RCV004317686] |
Chr1:158626174 [GRCh38]
Chr1:158595964 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7134+250_7134+252dup |
duplication |
not provided [RCV001611745] |
Chr1:158612557..158612558 [GRCh38]
Chr1:158582347..158582348 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.*420T>A |
single nucleotide variant |
Elliptocytosis 2 [RCV001096452]|Hereditary spherocytosis type 3 [RCV001096453]|Pyropoikilocytosis, hereditary [RCV001096454] |
Chr1:158610844 [GRCh38]
Chr1:158580634 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5261A>G (p.Lys1754Arg) |
single nucleotide variant |
Elliptocytosis 2 [RCV003448842] |
Chr1:158636690 [GRCh38]
Chr1:158606480 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.264+112G>A |
single nucleotide variant |
not provided [RCV001690661] |
Chr1:158684996 [GRCh38]
Chr1:158654786 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5256G>A (p.Leu1752=) |
single nucleotide variant |
not provided [RCV000903572] |
Chr1:158636695 [GRCh38]
Chr1:158606485 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098396]|Hereditary spherocytosis type 3 [RCV001098395]|Pyropoikilocytosis, hereditary [RCV001098394]|SPTA1-related disorder [RCV004550010]|not provided [RCV000880558] |
Chr1:158674607 [GRCh38]
Chr1:158644397 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.883G>A (p.Asp295Asn) |
single nucleotide variant |
not provided [RCV001812277] |
Chr1:158677764 [GRCh38]
Chr1:158647554 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3896+19C>T |
single nucleotide variant |
not provided [RCV001813129] |
Chr1:158647520 [GRCh38]
Chr1:158617310 [GRCh37]
Chr1:1q23.1 |
benign |
| GRCh37/hg19 1q23.1(chr1:158489545-158889411)x1 |
copy number loss |
not provided [RCV001005144] |
Chr1:158489545..158889411 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3057T>C (p.Ala1019=) |
single nucleotide variant |
not provided [RCV000938160] |
Chr1:158653405 [GRCh38]
Chr1:158623195 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4:c.47854delG |
deletion |
Prenatal anemia [RCV000787434] |
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.*509G>T |
single nucleotide variant |
Elliptocytosis 2 [RCV001096451]|Hereditary spherocytosis type 3 [RCV001096450]|Pyropoikilocytosis, hereditary [RCV001101885] |
Chr1:158610755 [GRCh38]
Chr1:158580545 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*379G>A |
single nucleotide variant |
Elliptocytosis 2 [RCV001098194]|Hereditary spherocytosis type 3 [RCV001098193]|Pyropoikilocytosis, hereditary [RCV001098192] |
Chr1:158610885 [GRCh38]
Chr1:158580675 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.410G>A (p.Arg137His) |
single nucleotide variant |
Elliptocytosis 2 [RCV001096951]|Hereditary spherocytosis type 3 [RCV001098692]|Pyropoikilocytosis, hereditary [RCV001098693]|not provided [RCV003142044] |
Chr1:158681648 [GRCh38]
Chr1:158651438 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2971C>T (p.Arg991Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV001096036]|Hereditary spherocytosis type 3 [RCV001096035]|Pyropoikilocytosis, hereditary [RCV001096034] |
Chr1:158654676 [GRCh38]
Chr1:158624466 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.2899-10T>A |
single nucleotide variant |
Elliptocytosis 2 [RCV001096038]|Hereditary spherocytosis type 3 [RCV001096039]|Pyropoikilocytosis, hereditary [RCV001096037] |
Chr1:158654758 [GRCh38]
Chr1:158624548 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4224G>C (p.Glu1408Asp) |
single nucleotide variant |
Elliptocytosis 2 [RCV001097516]|Hereditary spherocytosis type 3 [RCV001097425]|Pyropoikilocytosis, hereditary [RCV001097424] |
Chr1:158644367 [GRCh38]
Chr1:158614157 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*387T>C |
single nucleotide variant |
Elliptocytosis 2 [RCV001096457]|Hereditary spherocytosis type 3 [RCV001096455]|Pyropoikilocytosis, hereditary [RCV001096456] |
Chr1:158610877 [GRCh38]
Chr1:158580667 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1833+4G>A |
single nucleotide variant |
Elliptocytosis 2 [RCV001096459]|Hereditary spherocytosis type 3 [RCV001101889]|Pyropoikilocytosis, hereditary [RCV001096458] |
Chr1:158669404 [GRCh38]
Chr1:158639194 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5311-4T>A |
single nucleotide variant |
Elliptocytosis 2 [RCV001097154]|Hereditary spherocytosis type 3 [RCV001097153]|Pyropoikilocytosis, hereditary [RCV001098897]|not provided [RCV002511035] |
Chr1:158636038 [GRCh38]
Chr1:158605828 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2875C>T (p.Arg959Trp) |
single nucleotide variant |
Elliptocytosis 2 [RCV001097806]|Hereditary spherocytosis type 3 [RCV001097807]|Pyropoikilocytosis, hereditary [RCV001096040]|not provided [RCV004691335] |
Chr1:158656587 [GRCh38]
Chr1:158626377 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV001097421]|Hereditary spherocytosis type 3 [RCV001097423]|Pyropoikilocytosis, hereditary [RCV001097422]|not provided [RCV002555992] |
Chr1:158644351 [GRCh38]
Chr1:158614141 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2187C>G (p.His729Gln) |
single nucleotide variant |
Elliptocytosis 2 [RCV001096355]|Hereditary spherocytosis type 3 [RCV001096357]|Pyropoikilocytosis, hereditary [RCV001096356] |
Chr1:158666349 [GRCh38]
Chr1:158636139 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.966G>A (p.Glu322=) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100170]|Hereditary spherocytosis type 3 [RCV001100169]|Pyropoikilocytosis, hereditary [RCV001100171] |
Chr1:158676287 [GRCh38]
Chr1:158646077 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1266C>T (p.Tyr422=) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098393]|Hereditary spherocytosis type 3 [RCV001096667]|Pyropoikilocytosis, hereditary [RCV001098392] |
Chr1:158674413 [GRCh38]
Chr1:158644203 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6372G>A (p.Val2124=) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098598]|Hereditary spherocytosis type 3 [RCV001098599]|Pyropoikilocytosis, hereditary [RCV001098600] |
Chr1:158620215 [GRCh38]
Chr1:158590005 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098695]|Hereditary spherocytosis type 3 [RCV001098696]|Pyropoikilocytosis, hereditary [RCV001098694]|not provided [RCV001811650] |
Chr1:158683435 [GRCh38]
Chr1:158653225 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.2038+1G>A |
single nucleotide variant |
not provided [RCV001061985] |
Chr1:158667857 [GRCh38]
Chr1:158637647 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.1619C>A (p.Thr540Asn) |
single nucleotide variant |
Elliptocytosis 2 [RCV001028043] |
Chr1:158669767 [GRCh38]
Chr1:158639557 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6417G>C (p.Glu2139Asp) |
single nucleotide variant |
Pyropoikilocytosis, hereditary [RCV000986443] |
Chr1:158620170 [GRCh38]
Chr1:158589960 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.1833+1G>A |
single nucleotide variant |
Elliptocytosis 2 [RCV005047158]|Pyropoikilocytosis, hereditary [RCV000986445]|not provided [RCV001508916] |
Chr1:158669407 [GRCh38]
Chr1:158639197 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV000985101] |
Chr1:158636688 [GRCh38]
Chr1:158606478 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 |
copy number loss |
not provided [RCV000848773] |
Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2 |
pathogenic |
| NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) |
single nucleotide variant |
Elliptocytosis 2 [RCV001096159]|Hereditary spherocytosis type 3 [RCV001096158]|Pyropoikilocytosis, hereditary [RCV001096160]|not provided [RCV002550739]|not specified [RCV001000650] |
Chr1:158657674 [GRCh38]
Chr1:158627464 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2823T>A (p.His941Gln) |
single nucleotide variant |
not provided [RCV003490004]|not specified [RCV001001230] |
Chr1:158656639 [GRCh38]
Chr1:158626429 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1690C>T (p.Arg564Trp) |
single nucleotide variant |
Elliptocytosis 2 [RCV003989828]|not provided [RCV004790523]|not specified [RCV004303728] |
Chr1:158669551 [GRCh38]
Chr1:158639341 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6549-13G>A |
single nucleotide variant |
not provided [RCV003313436] |
Chr1:158617601 [GRCh38]
Chr1:158587391 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3940T>A (p.Ser1314Thr) |
single nucleotide variant |
not specified [RCV004315239] |
Chr1:158645551 [GRCh38]
Chr1:158615341 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5270G>A (p.Arg1757His) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100719]|Hereditary spherocytosis type 3 [RCV001098898]|Pyropoikilocytosis, hereditary [RCV001100720]|not provided [RCV000994143] |
Chr1:158636681 [GRCh38]
Chr1:158606471 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4004G>A (p.Arg1335His) |
single nucleotide variant |
not provided [RCV000994144]|not specified [RCV004030165] |
Chr1:158645378 [GRCh38]
Chr1:158615168 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.1330T>G (p.Ser444Ala) |
single nucleotide variant |
Elliptocytosis 2 [RCV001102076]|Hereditary spherocytosis type 3 [RCV001096666]|Pyropoikilocytosis, hereditary [RCV001102077] |
Chr1:158674349 [GRCh38]
Chr1:158644139 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.749G>A (p.Arg250His) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098601]|Hereditary spherocytosis type 3 [RCV001096846]|Pyropoikilocytosis, hereditary [RCV001096845]|not provided [RCV001811648] |
Chr1:158678464 [GRCh38]
Chr1:158648254 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.4708G>A (p.Ala1570Thr) |
single nucleotide variant |
Elliptocytosis 2 [RCV001101065]|Hereditary spherocytosis type 3 [RCV001101066]|Pyropoikilocytosis, hereditary [RCV001101064]|not provided [RCV003883553] |
Chr1:158642440 [GRCh38]
Chr1:158612230 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000001.11:g.158686851C>A |
single nucleotide variant |
not provided [RCV001641277] |
Chr1:158686851 [GRCh38]
Chr1:158656641 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.2101C>A (p.Arg701Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098103]|Hereditary spherocytosis type 3 [RCV001098102]|Pyropoikilocytosis, hereditary [RCV001098101]|SPTA1-related disorder [RCV004547983]|not provided [RCV002276623] |
Chr1:158666435 [GRCh38]
Chr1:158636225 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.*341T>G |
single nucleotide variant |
Elliptocytosis 2 [RCV001098197]|Hereditary spherocytosis type 3 [RCV001098196]|Pyropoikilocytosis, hereditary [RCV001098195] |
Chr1:158610923 [GRCh38]
Chr1:158580713 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098398]|Hereditary spherocytosis type 3 [RCV001098397]|Pyropoikilocytosis, hereditary [RCV001098399]|not provided [RCV003490069] |
Chr1:158674613 [GRCh38]
Chr1:158644403 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV001198343]|not provided [RCV003490109] |
Chr1:158662846 [GRCh38]
Chr1:158632636 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.2464+13T>G |
single nucleotide variant |
Elliptocytosis 2 [RCV001096258]|Hereditary spherocytosis type 3 [RCV001096259]|Pyropoikilocytosis, hereditary [RCV001096257] |
Chr1:158662689 [GRCh38]
Chr1:158632479 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6267G>T (p.Leu2089Phe) |
single nucleotide variant |
not provided [RCV004812639] |
Chr1:158620320 [GRCh38]
Chr1:158590110 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6656T>C (p.Leu2219Pro) |
single nucleotide variant |
not specified [RCV004291818] |
Chr1:158615348 [GRCh38]
Chr1:158585138 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6531-300C>T |
single nucleotide variant |
not provided [RCV001616750] |
Chr1:158618356 [GRCh38]
Chr1:158588146 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5910+94G>T |
single nucleotide variant |
not provided [RCV001708510] |
Chr1:158626052 [GRCh38]
Chr1:158595842 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.24+132_24+137del |
deletion |
not provided [RCV001660749] |
Chr1:158686357..158686362 [GRCh38]
Chr1:158656147..158656152 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.3477+1G>C |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV001534598] |
Chr1:158651366 [GRCh38]
Chr1:158621156 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.2220+254T>C |
single nucleotide variant |
not provided [RCV001693441] |
Chr1:158666062 [GRCh38]
Chr1:158635852 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.264+46T>C |
single nucleotide variant |
Elliptocytosis 2 [RCV001810245]|Hereditary spherocytosis type 3 [RCV001810246]|Pyropoikilocytosis, hereditary [RCV001810244]|not provided [RCV001682519] |
Chr1:158685062 [GRCh38]
Chr1:158654852 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.1273C>T (p.Arg425Ter) |
single nucleotide variant |
not provided [RCV002284351] |
Chr1:158674406 [GRCh38]
Chr1:158644196 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.6789-314C>T |
single nucleotide variant |
not provided [RCV001649487] |
Chr1:158614620 [GRCh38]
Chr1:158584410 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.3997-42A>G |
single nucleotide variant |
not provided [RCV001694749] |
Chr1:158645427 [GRCh38]
Chr1:158615217 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5910+112A>G |
single nucleotide variant |
not provided [RCV001708235] |
Chr1:158626034 [GRCh38]
Chr1:158595824 [GRCh37]
Chr1:1q23.1 |
benign |
| NC_000001.11:g.158686863A>T |
single nucleotide variant |
not provided [RCV001609794] |
Chr1:158686863 [GRCh38]
Chr1:158656653 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.2465-58G>A |
single nucleotide variant |
not provided [RCV001673688] |
Chr1:158661467 [GRCh38]
Chr1:158631257 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) |
single nucleotide variant |
Elliptocytosis 2 [RCV001336014]|not provided [RCV000974600] |
Chr1:158653400 [GRCh38]
Chr1:158623190 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.957+8G>A |
single nucleotide variant |
not provided [RCV000885443] |
Chr1:158677682 [GRCh38]
Chr1:158647472 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3472C>T (p.Arg1158Trp) |
single nucleotide variant |
not provided [RCV000918783] |
Chr1:158651372 [GRCh38]
Chr1:158621162 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098602]|Hereditary spherocytosis type 3 [RCV001098603]|Pyropoikilocytosis, hereditary [RCV001098604]|not provided [RCV000955256] |
Chr1:158678465 [GRCh38]
Chr1:158648255 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro) |
single nucleotide variant |
Elliptocytosis 2 [RCV001099086]|Hereditary spherocytosis type 3 [RCV001099088]|Pyropoikilocytosis, hereditary [RCV001099087]|not provided [RCV000917708]|not specified [RCV004029417] |
Chr1:158642828 [GRCh38]
Chr1:158612618 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.204G>C (p.Trp68Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV001102458]|Hereditary spherocytosis type 3 [RCV001100510]|Pyropoikilocytosis, hereditary [RCV001100511] |
Chr1:158685168 [GRCh38]
Chr1:158654958 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5049G>T (p.Gln1683His) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100976]|Hereditary spherocytosis type 3 [RCV001100978]|Pyropoikilocytosis, hereditary [RCV001100977]|not provided [RCV003558667]|not specified [RCV004032073] |
Chr1:158638173 [GRCh38]
Chr1:158607963 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.*319C>T |
single nucleotide variant |
Elliptocytosis 2 [RCV001099972]|Hereditary spherocytosis type 3 [RCV001099971]|Pyropoikilocytosis, hereditary [RCV001099970] |
Chr1:158610945 [GRCh38]
Chr1:158580735 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2612C>T (p.Ala871Val) |
single nucleotide variant |
Elliptocytosis 2 [RCV001096157]|Hereditary spherocytosis type 3 [RCV001096155]|Pyropoikilocytosis, hereditary [RCV001096156]|not provided [RCV003490067]|not specified [RCV004032005] |
Chr1:158657670 [GRCh38]
Chr1:158627460 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1351-4A>G |
single nucleotide variant |
Elliptocytosis 2 [RCV001100080]|Hereditary spherocytosis type 3 [RCV001100081]|Pyropoikilocytosis, hereditary [RCV001100079]|SPTA1-related disorder [RCV004553428]|not provided [RCV000958051] |
Chr1:158672200 [GRCh38]
Chr1:158641990 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.570G>A (p.Trp190Ter) |
single nucleotide variant |
Pyropoikilocytosis, hereditary [RCV000986446] |
Chr1:158680691 [GRCh38]
Chr1:158650481 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.957+168T>C |
single nucleotide variant |
not provided [RCV001637257] |
Chr1:158677522 [GRCh38]
Chr1:158647312 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.25-301G>A |
single nucleotide variant |
not provided [RCV001657382] |
Chr1:158685648 [GRCh38]
Chr1:158655438 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6172T>G (p.Trp2058Gly) |
single nucleotide variant |
Elliptocytosis 2 [RCV001563608] |
Chr1:158620415 [GRCh38]
Chr1:158590205 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5664+106T>C |
single nucleotide variant |
not provided [RCV001676082] |
Chr1:158627519 [GRCh38]
Chr1:158597309 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.264+276T>C |
single nucleotide variant |
not provided [RCV001609305] |
Chr1:158684832 [GRCh38]
Chr1:158654622 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.3570-37T>A |
single nucleotide variant |
Elliptocytosis 2 [RCV001810199]|Hereditary spherocytosis type 3 [RCV001810200]|Pyropoikilocytosis, hereditary [RCV001810198]|not provided [RCV001662980] |
Chr1:158648690 [GRCh38]
Chr1:158618480 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.958-215G>A |
single nucleotide variant |
not provided [RCV001636299] |
Chr1:158676510 [GRCh38]
Chr1:158646300 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.4298T>C (p.Met1433Thr) |
single nucleotide variant |
not provided [RCV002465962] |
Chr1:158644293 [GRCh38]
Chr1:158614083 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1112+1G>T |
single nucleotide variant |
not provided [RCV002466019] |
Chr1:158676140 [GRCh38]
Chr1:158645930 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.391-333G>A |
single nucleotide variant |
not provided [RCV001608712] |
Chr1:158682000 [GRCh38]
Chr1:158651790 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6531-317G>T |
single nucleotide variant |
not provided [RCV001716259] |
Chr1:158618373 [GRCh38]
Chr1:158588163 [GRCh37]
Chr1:1q23.1 |
benign |
| NC_000001.11:g.158686968A>G |
single nucleotide variant |
not provided [RCV001639159] |
Chr1:158686968 [GRCh38]
Chr1:158656758 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.1600-25T>C |
single nucleotide variant |
not provided [RCV001716920] |
Chr1:158669811 [GRCh38]
Chr1:158639601 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6530+96G>C |
single nucleotide variant |
not provided [RCV001619686] |
Chr1:158619126 [GRCh38]
Chr1:158588916 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.25-281T>A |
single nucleotide variant |
not provided [RCV001537166] |
Chr1:158685628 [GRCh38]
Chr1:158655418 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6548+45A>C |
single nucleotide variant |
Elliptocytosis 2 [RCV001810113]|Hereditary spherocytosis type 3 [RCV001810114]|Pyropoikilocytosis, hereditary [RCV001810112]|not provided [RCV001597927] |
Chr1:158617994 [GRCh38]
Chr1:158587784 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.7135-331A>G |
single nucleotide variant |
not provided [RCV001620398] |
Chr1:158611720 [GRCh38]
Chr1:158581510 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5189+214A>G |
single nucleotide variant |
not provided [RCV001677799] |
Chr1:158637819 [GRCh38]
Chr1:158607609 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.1834-263G>T |
single nucleotide variant |
not provided [RCV001637646] |
Chr1:158668325 [GRCh38]
Chr1:158638115 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6120+257A>G |
single nucleotide variant |
not provided [RCV001653373] |
Chr1:158622726 [GRCh38]
Chr1:158592516 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.24+276T>G |
single nucleotide variant |
not provided [RCV001637584] |
Chr1:158686218 [GRCh38]
Chr1:158656008 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5833+105T>C |
single nucleotide variant |
not provided [RCV001598195] |
Chr1:158626734 [GRCh38]
Chr1:158626734..158626735 [GRCh38]
Chr1:158596524 [GRCh37]
Chr1:158596524..158596525 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.4980+72G>C |
single nucleotide variant |
not provided [RCV001676297] |
Chr1:158639510 [GRCh38]
Chr1:158609300 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5189+35A>C |
single nucleotide variant |
Elliptocytosis 2 [RCV001810224]|Hereditary spherocytosis type 3 [RCV001810225]|Pyropoikilocytosis, hereditary [RCV001810223]|not provided [RCV001677178] |
Chr1:158637998 [GRCh38]
Chr1:158607788 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.4738-305_4738-304insA |
insertion |
not provided [RCV001678119] |
Chr1:158640311..158640312 [GRCh38]
Chr1:158610101..158610102 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.4981-147C>T |
single nucleotide variant |
not provided [RCV001620882] |
Chr1:158638388 [GRCh38]
Chr1:158608178 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.25-321T>G |
single nucleotide variant |
not provided [RCV001682568] |
Chr1:158685668 [GRCh38]
Chr1:158655458 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6548+57G>A |
single nucleotide variant |
not provided [RCV001686693] |
Chr1:158617982 [GRCh38]
Chr1:158587772 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5565+190C>T |
single nucleotide variant |
not provided [RCV001687727] |
Chr1:158634353 [GRCh38]
Chr1:158604143 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His) |
single nucleotide variant |
Elliptocytosis 2 [RCV001096948]|Hereditary spherocytosis type 3 [RCV001096947]|Pyropoikilocytosis, hereditary [RCV001096949]|not provided [RCV002261274] |
Chr1:158623056 [GRCh38]
Chr1:158592846 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2464+1G>A |
single nucleotide variant |
Anemia [RCV001003796]|SPTA1-related disorder [RCV001265552]|not provided [RCV001508909] |
Chr1:158662701 [GRCh38]
Chr1:158632491 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4936C>T (p.Leu1646Phe) |
single nucleotide variant |
Elliptocytosis 2 [RCV001097240]|Hereditary spherocytosis type 3 [RCV001097239]|Pyropoikilocytosis, hereditary [RCV001097241]|not provided [RCV004792718] |
Chr1:158639626 [GRCh38]
Chr1:158609416 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.813-6C>G |
single nucleotide variant |
not specified [RCV001002030] |
Chr1:158677840 [GRCh38]
Chr1:158647630 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6026G>A (p.Arg2009His) |
single nucleotide variant |
not provided [RCV001813106]|not specified [RCV004035544] |
Chr1:158623077 [GRCh38]
Chr1:158592867 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4339-2A>C |
single nucleotide variant |
not provided [RCV001813119] |
Chr1:158643427 [GRCh38]
Chr1:158613217 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.5386C>T (p.Gln1796Ter) |
single nucleotide variant |
not provided [RCV001813147] |
Chr1:158635959 [GRCh38]
Chr1:158605749 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100375]|Hereditary spherocytosis type 3 [RCV001100374]|Pyropoikilocytosis, hereditary [RCV001100376]|not provided [RCV003142047] |
Chr1:158620352 [GRCh38]
Chr1:158590142 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.521T>C (p.Ile174Thr) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100382]|Hereditary spherocytosis type 3 [RCV001100380]|Pyropoikilocytosis, hereditary [RCV001100381] |
Chr1:158681537 [GRCh38]
Chr1:158651327 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4857T>C (p.Phe1619=) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100811]|Hereditary spherocytosis type 3 [RCV001100813]|Pyropoikilocytosis, hereditary [RCV001100812] |
Chr1:158639888 [GRCh38]
Chr1:158609678 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4875+12C>T |
single nucleotide variant |
Elliptocytosis 2 [RCV001098997]|Hereditary spherocytosis type 3 [RCV001098996]|Pyropoikilocytosis, hereditary [RCV001098995]|not provided [RCV002554931] |
Chr1:158639858 [GRCh38]
Chr1:158609648 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098998]|Hereditary spherocytosis type 3 [RCV001099000]|Pyropoikilocytosis, hereditary [RCV001098999]|not provided [RCV001811651] |
Chr1:158639883 [GRCh38]
Chr1:158609673 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.551T>G (p.Val184Gly) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100378]|Hereditary spherocytosis type 3 [RCV001100379]|Pyropoikilocytosis, hereditary [RCV001100377]|not provided [RCV003736976]|not specified [RCV004032064] |
Chr1:158680710 [GRCh38]
Chr1:158650500 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100508]|Hereditary spherocytosis type 3 [RCV001100509]|Pyropoikilocytosis, hereditary [RCV001100507]|not provided [RCV001811653] |
Chr1:158626218 [GRCh38]
Chr1:158596008 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.4849C>A (p.Arg1617=) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100818]|Hereditary spherocytosis type 3 [RCV001100817]|Pyropoikilocytosis, hereditary [RCV001101063] |
Chr1:158639896 [GRCh38]
Chr1:158609686 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3715-11T>C |
single nucleotide variant |
Elliptocytosis 2 [RCV001101276]|Hereditary spherocytosis type 3 [RCV001101274]|Pyropoikilocytosis, hereditary [RCV001101275] |
Chr1:158647731 [GRCh38]
Chr1:158617521 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.2479G>C (p.Ala827Pro) |
single nucleotide variant |
Elliptocytosis 2 [RCV001101686]|Hereditary spherocytosis type 3 [RCV001101685]|Pyropoikilocytosis, hereditary [RCV001101684] |
Chr1:158661395 [GRCh38]
Chr1:158631185 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1981C>T (p.Arg661Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV001101886]|Hereditary spherocytosis type 3 [RCV001101887]|Pyropoikilocytosis, hereditary [RCV001101888] |
Chr1:158667915 [GRCh38]
Chr1:158637705 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7198G>T (p.Gly2400Cys) |
single nucleotide variant |
Elliptocytosis 2 [RCV001102073]|Hereditary spherocytosis type 3 [RCV001102074]|Pyropoikilocytosis, hereditary [RCV001102075] |
Chr1:158611326 [GRCh38]
Chr1:158581116 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp) |
single nucleotide variant |
not provided [RCV001869423]|not specified [RCV001000901] |
Chr1:158647693 [GRCh38]
Chr1:158617483 [GRCh37]
Chr1:1q23.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro) |
single nucleotide variant |
not provided [RCV001784536]|not specified [RCV001001220] |
Chr1:158685271 [GRCh38]
Chr1:158655061 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_003126.4(SPTA1):c.264+311T>A |
single nucleotide variant |
not provided [RCV001714805] |
Chr1:158684797 [GRCh38]
Chr1:158654587 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.812+183G>T |
single nucleotide variant |
not provided [RCV001685155] |
Chr1:158678218 [GRCh38]
Chr1:158648008 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.679-166A>G |
single nucleotide variant |
not provided [RCV001691252] |
Chr1:158678700 [GRCh38]
Chr1:158648490 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.1489-198A>G |
single nucleotide variant |
not provided [RCV001614017] |
Chr1:158671651 [GRCh38]
Chr1:158641441 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5566-229A>G |
single nucleotide variant |
not provided [RCV001616271] |
Chr1:158627952 [GRCh38]
Chr1:158597742 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.265-223T>C |
single nucleotide variant |
not provided [RCV001692703] |
Chr1:158683719 [GRCh38]
Chr1:158653509 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.3714+76G>A |
single nucleotide variant |
not provided [RCV001709276] |
Chr1:158648433 [GRCh38]
Chr1:158618223 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.25-25G>T |
single nucleotide variant |
Elliptocytosis 2 [RCV001810089]|Hereditary spherocytosis type 3 [RCV001810090]|Pyropoikilocytosis, hereditary [RCV001810088]|not provided [RCV001540260] |
Chr1:158685372 [GRCh38]
Chr1:158655162 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.4201C>T (p.Gln1401Ter) |
single nucleotide variant |
not provided [RCV001208779] |
Chr1:158644390 [GRCh38]
Chr1:158614180 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.2846A>G (p.Asn949Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV001099604]|Hereditary spherocytosis type 3 [RCV001099606]|Pyropoikilocytosis, hereditary [RCV001099605] |
Chr1:158656616 [GRCh38]
Chr1:158626406 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2365C>G (p.Leu789Val) |
single nucleotide variant |
Elliptocytosis 2 [RCV001099785]|Hereditary spherocytosis type 3 [RCV001099786]|Pyropoikilocytosis, hereditary [RCV001099787] |
Chr1:158662801 [GRCh38]
Chr1:158632591 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) |
single nucleotide variant |
Elliptocytosis 2 [RCV001097899]|Hereditary spherocytosis type 3 [RCV001097900]|Pyropoikilocytosis, hereditary [RCV001097901]|not provided [RCV001811649] |
Chr1:158657682 [GRCh38]
Chr1:158627472 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2588-3T>C |
single nucleotide variant |
Elliptocytosis 2 [RCV001097904]|Hereditary spherocytosis type 3 [RCV001097903]|Pyropoikilocytosis, hereditary [RCV001097902]|SPTA1-related disorder [RCV004547982]|not provided [RCV003142045] |
Chr1:158657697 [GRCh38]
Chr1:158627487 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1409G>A (p.Arg470His) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100077]|Hereditary spherocytosis type 3 [RCV001100078]|Pyropoikilocytosis, hereditary [RCV001098302]|not provided [RCV003142046] |
Chr1:158672138 [GRCh38]
Chr1:158641928 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6989+8C>A |
single nucleotide variant |
Elliptocytosis 2 [RCV001098391]|Hereditary spherocytosis type 3 [RCV001098389]|Pyropoikilocytosis, hereditary [RCV001098390] |
Chr1:158613713 [GRCh38]
Chr1:158583503 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6621G>A (p.Gln2207=) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098494]|Hereditary spherocytosis type 3 [RCV001098496]|Pyropoikilocytosis, hereditary [RCV001098495] |
Chr1:158615383 [GRCh38]
Chr1:158585173 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6601-10G>A |
single nucleotide variant |
Elliptocytosis 2 [RCV001098497]|Hereditary spherocytosis type 3 [RCV001098499]|Pyropoikilocytosis, hereditary [RCV001098498]|not provided [RCV005093475] |
Chr1:158615413 [GRCh38]
Chr1:158585203 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.47A>T (p.Lys16Met) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098790]|Hereditary spherocytosis type 3 [RCV001098791]|Pyropoikilocytosis, hereditary [RCV001098792]|not provided [RCV003490070]|not specified [RCV004671220] |
Chr1:158685325 [GRCh38]
Chr1:158655115 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6236G>T (p.Arg2079Leu) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100372]|Hereditary spherocytosis type 3 [RCV001100373]|Pyropoikilocytosis, hereditary [RCV001100371]|not provided [RCV003718315] |
Chr1:158620351 [GRCh38]
Chr1:158590141 [GRCh37]
Chr1:1q23.1 |
benign|uncertain significance |
| NM_003126.4(SPTA1):c.5433-132G>A |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV001198344] |
Chr1:158634807 [GRCh38]
Chr1:158604597 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1588G>A (p.Glu530Lys) |
single nucleotide variant |
Elliptocytosis 2 [RCV001101974]|Hereditary spherocytosis type 3 [RCV001101976]|Pyropoikilocytosis, hereditary [RCV001101975]|not provided [RCV004691374] |
Chr1:158671354 [GRCh38]
Chr1:158641144 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.958-12T>C |
single nucleotide variant |
Elliptocytosis 2 [RCV001102165]|Hereditary spherocytosis type 3 [RCV001102164]|Pyropoikilocytosis, hereditary [RCV001102166] |
Chr1:158676307 [GRCh38]
Chr1:158646097 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2805+7T>G |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV001195850]|not provided [RCV004691384] |
Chr1:158657470 [GRCh38]
Chr1:158627260 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1q23.1(chr1:158655335-158667812) |
copy number loss |
Hereditary spherocytosis type 3 [RCV001195114] |
Chr1:158655335..158667812 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.957+7C>T |
single nucleotide variant |
Elliptocytosis 2 [RCV001102169]|Hereditary spherocytosis type 3 [RCV001102168]|Pyropoikilocytosis, hereditary [RCV001102167] |
Chr1:158677683 [GRCh38]
Chr1:158647473 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser) |
single nucleotide variant |
not provided [RCV002549170] |
Chr1:158651455 [GRCh38]
Chr1:158621245 [GRCh37]
Chr1:1q23.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1489G>T (p.Ala497Ser) |
single nucleotide variant |
Elliptocytosis 2 [RCV001098299]|Hereditary spherocytosis type 3 [RCV001098300]|Pyropoikilocytosis, hereditary [RCV001098301] |
Chr1:158671453 [GRCh38]
Chr1:158641243 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln) |
single nucleotide variant |
Elliptocytosis 2 [RCV001100814]|Hereditary spherocytosis type 3 [RCV001100815]|Pyropoikilocytosis, hereditary [RCV001100816]|not provided [RCV002261275]|not specified [RCV004032072] |
Chr1:158639895 [GRCh38]
Chr1:158609685 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.5219A>G (p.Asp1740Gly) |
single nucleotide variant |
Elliptocytosis 2 [RCV001253518] |
Chr1:158636732 [GRCh38]
Chr1:158606522 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2965_2966del (p.Gln989fs) |
deletion |
not provided [RCV002284345] |
Chr1:158654681..158654682 [GRCh38]
Chr1:158624471..158624472 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.3189-13A>G |
single nucleotide variant |
Elliptocytosis 2 [RCV001332229] |
Chr1:158652666 [GRCh38]
Chr1:158622456 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4339-99C>T |
single nucleotide variant |
Elliptocytosis 2 [RCV002246311]|Elliptocytosis 2 [RCV002504518]|Hereditary spherocytosis [RCV001449698]|Hereditary spherocytosis type 3 [RCV001804163]|Pyropoikilocytosis, hereditary [RCV003152762]|SPTA1-related disorder [RCV004548177]|not provided [RCV001507483] |
Chr1:158643524 [GRCh38]
Chr1:158643524..158643525 [GRCh38]
Chr1:158613314 [GRCh37]
Chr1:158613314..158613315 [GRCh37]
Chr1:1q23.1 |
pathogenic|risk factor |
| NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV004789501]|Inborn genetic diseases [RCV001265821]|not provided [RCV001880101] |
Chr1:158643417 [GRCh38]
Chr1:158613207 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs) |
microsatellite |
Elliptocytosis 2 [RCV001332233]|not provided [RCV002546541] |
Chr1:158614281..158614282 [GRCh38]
Chr1:158584071..158584072 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly) |
single nucleotide variant |
not provided [RCV001507477] |
Chr1:158642437 [GRCh38]
Chr1:158612227 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2542C>T (p.Arg848Cys) |
single nucleotide variant |
not provided [RCV001813160] |
Chr1:158661332 [GRCh38]
Chr1:158631122 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2806-3_2806-1del |
deletion |
not provided [RCV001810706] |
Chr1:158656657..158656659 [GRCh38]
Chr1:158626447..158626449 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.6788+1G>A |
single nucleotide variant |
not provided [RCV002284331] |
Chr1:158615215 [GRCh38]
Chr1:158585005 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4295del (p.Ala1431_Leu1432insTer) |
deletion |
not provided [RCV002284340] |
Chr1:158644296 [GRCh38]
Chr1:158614086 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.6414del (p.Ile2138fs) |
deletion |
not provided [RCV001507994] |
Chr1:158620173 [GRCh38]
Chr1:158589963 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.3909C>A (p.Asn1303Lys) |
single nucleotide variant |
not provided [RCV001812445] |
Chr1:158645582 [GRCh38]
Chr1:158615372 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.216A>G (p.Lys72=) |
single nucleotide variant |
not provided [RCV001812985] |
Chr1:158685156 [GRCh38]
Chr1:158654946 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2818A>T (p.Lys940Ter) |
single nucleotide variant |
not provided [RCV001813041] |
Chr1:158656644 [GRCh38]
Chr1:158626434 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.481C>T (p.Gln161Ter) |
single nucleotide variant |
not provided [RCV001812298] |
Chr1:158681577 [GRCh38]
Chr1:158651367 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.1814C>A (p.Ala605Glu) |
single nucleotide variant |
not provided [RCV001812308] |
Chr1:158669427 [GRCh38]
Chr1:158639217 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2894G>T (p.Cys965Phe) |
single nucleotide variant |
not provided [RCV001508907] |
Chr1:158656568 [GRCh38]
Chr1:158626358 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1458dup (p.Gln487fs) |
duplication |
Elliptocytosis 2 [RCV001336013] |
Chr1:158672088..158672089 [GRCh38]
Chr1:158641878..158641879 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.4632dup (p.Ala1545fs) |
duplication |
not provided [RCV003139114] |
Chr1:158642515..158642516 [GRCh38]
Chr1:158612305..158612306 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.6697T>C (p.Tyr2233His) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV001332232] |
Chr1:158615307 [GRCh38]
Chr1:158585097 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6594A>G (p.Ala2198=) |
single nucleotide variant |
not provided [RCV001310879] |
Chr1:158617543 [GRCh38]
Chr1:158587333 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.1669C>T (p.Arg557Cys) |
single nucleotide variant |
not provided [RCV001810650] |
Chr1:158669717 [GRCh38]
Chr1:158639507 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_003126.4(SPTA1):c.2029A>G (p.Lys677Glu) |
single nucleotide variant |
not provided [RCV001812378] |
Chr1:158667867 [GRCh38]
Chr1:158637657 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6549-22A>C |
single nucleotide variant |
not provided [RCV001597264] |
Chr1:158617610 [GRCh38]
Chr1:158587400 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6120G>A (p.Lys2040=) |
single nucleotide variant |
not provided [RCV001812306] |
Chr1:158622983 [GRCh38]
Chr1:158592773 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.958-1G>T |
single nucleotide variant |
not provided [RCV002284322] |
Chr1:158676296 [GRCh38]
Chr1:158646086 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.7135_7137delinsTATAAATGACA (p.Ala2379delinsTyrLysTer) |
indel |
not provided [RCV002284324] |
Chr1:158611387..158611389 [GRCh38]
Chr1:158581177..158581179 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4180del (p.Cys1394fs) |
deletion |
Hereditary spherocytosis type 3 [RCV001336015]|not provided [RCV003727985] |
Chr1:158645202 [GRCh38]
Chr1:158614992 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.3019C>T (p.Leu1007Phe) |
single nucleotide variant |
not provided [RCV001810612] |
Chr1:158654628 [GRCh38]
Chr1:158624418 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4240C>G (p.Arg1414Gly) |
single nucleotide variant |
not provided [RCV001355571]|not specified [RCV004034448] |
Chr1:158644351 [GRCh38]
Chr1:158614141 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1108T>C (p.Tyr370His) |
single nucleotide variant |
not provided [RCV001355945] |
Chr1:158676145 [GRCh38]
Chr1:158645935 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7181_7182del (p.Gln2394fs) |
deletion |
not provided [RCV001507991] |
Chr1:158611342..158611343 [GRCh38]
Chr1:158581132..158581133 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.6418-23T>C |
single nucleotide variant |
not provided [RCV001507993] |
Chr1:158619357 [GRCh38]
Chr1:158589147 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6047G>T (p.Arg2016Leu) |
single nucleotide variant |
not provided [RCV001507996] |
Chr1:158623056 [GRCh38]
Chr1:158592846 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5190-26C>G |
single nucleotide variant |
not provided [RCV001507999] |
Chr1:158636787 [GRCh38]
Chr1:158606577 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4579_4586del (p.Ser1527fs) |
deletion |
not provided [RCV001507480] |
Chr1:158642833..158642840 [GRCh38]
Chr1:158612623..158612630 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4182C>T (p.Cys1394=) |
single nucleotide variant |
not provided [RCV001507485] |
Chr1:158645200 [GRCh38]
Chr1:158614990 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3026_3027delinsGA (p.Ser1009Ter) |
indel |
not provided [RCV001507487] |
Chr1:158654620..158654621 [GRCh38]
Chr1:158624410..158624411 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.2914C>A (p.Pro972Thr) |
single nucleotide variant |
not provided [RCV001507488] |
Chr1:158654733 [GRCh38]
Chr1:158624523 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6236_6264del (p.Arg2079fs) |
deletion |
not provided [RCV001507995] |
Chr1:158620323..158620351 [GRCh38]
Chr1:158590113..158590141 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.2221-24G>T |
single nucleotide variant |
not provided [RCV001508913] |
Chr1:158662969 [GRCh38]
Chr1:158632759 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1463T>C (p.Val488Ala) |
single nucleotide variant |
not provided [RCV001508919] |
Chr1:158672084 [GRCh38]
Chr1:158641874 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1248+4G>A |
single nucleotide variant |
not provided [RCV001509079] |
Chr1:158674536 [GRCh38]
Chr1:158644326 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.390+1G>A |
single nucleotide variant |
not provided [RCV001509086] |
Chr1:158683370 [GRCh38]
Chr1:158653160 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.209T>G (p.Met70Arg) |
single nucleotide variant |
not provided [RCV001509088] |
Chr1:158685163 [GRCh38]
Chr1:158654953 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.3331G>A (p.Asp1111Asn) |
single nucleotide variant |
Elliptocytosis 2 [RCV001542430] |
Chr1:158652511 [GRCh38]
Chr1:158622301 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4767G>A (p.Trp1589Ter) |
single nucleotide variant |
not provided [RCV001507476] |
Chr1:158639978 [GRCh38]
Chr1:158609768 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4339-188C>G |
single nucleotide variant |
not provided [RCV001507484] |
Chr1:158643613 [GRCh38]
Chr1:158613403 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2038G>A (p.Gly680Arg) |
single nucleotide variant |
not provided [RCV001508915] |
Chr1:158667858 [GRCh38]
Chr1:158637648 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.2386C>T (p.Gln796Ter) |
single nucleotide variant |
not provided [RCV001508910] |
Chr1:158662780 [GRCh38]
Chr1:158632570 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.2173C>T (p.Arg725Ter) |
single nucleotide variant |
SPTA1-related disorder [RCV004550276]|not provided [RCV001508914] |
Chr1:158666363 [GRCh38]
Chr1:158636153 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.1753C>A (p.Gln585Lys) |
single nucleotide variant |
not provided [RCV001508917] |
Chr1:158669488 [GRCh38]
Chr1:158639278 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro) |
single nucleotide variant |
not provided [RCV001508918] |
Chr1:158669538 [GRCh38]
Chr1:158639328 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1366AAC[1] (p.Asn457del) |
microsatellite |
not provided [RCV001508921] |
Chr1:158672176..158672178 [GRCh38]
Chr1:158641966..158641968 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.202T>A (p.Trp68Arg) |
single nucleotide variant |
not provided [RCV001509089] |
Chr1:158685170 [GRCh38]
Chr1:158654960 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.329A>T (p.Glu110Val) |
single nucleotide variant |
not provided [RCV001509087]|not specified [RCV004037902] |
Chr1:158683432 [GRCh38]
Chr1:158653222 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV004789641]|not provided [RCV001508908] |
Chr1:158657611 [GRCh38]
Chr1:158627401 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.1406_1408del (p.His469del) |
deletion |
not provided [RCV001508920] |
Chr1:158672139..158672141 [GRCh38]
Chr1:158641929..158641931 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.5664+119C>G |
single nucleotide variant |
not provided [RCV001538644] |
Chr1:158627506 [GRCh38]
Chr1:158597296 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.264+239C>T |
single nucleotide variant |
not provided [RCV001691435] |
Chr1:158684869 [GRCh38]
Chr1:158654659 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.25-178A>T |
single nucleotide variant |
not provided [RCV001654549] |
Chr1:158685525 [GRCh38]
Chr1:158655315 [GRCh37]
Chr1:1q23.1 |
benign |
| NC_000001.11:g.158686852C>A |
single nucleotide variant |
not provided [RCV001674685] |
Chr1:158686852 [GRCh38]
Chr1:158656642 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5432+210C>T |
single nucleotide variant |
not provided [RCV001618197] |
Chr1:158635703 [GRCh38]
Chr1:158605493 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.813-45A>G |
single nucleotide variant |
Elliptocytosis 2 [RCV001810232]|Hereditary spherocytosis type 3 [RCV001810233]|Pyropoikilocytosis, hereditary [RCV001810231]|not provided [RCV001686067] |
Chr1:158677879 [GRCh38]
Chr1:158647669 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.1599+294C>A |
single nucleotide variant |
not provided [RCV001674634] |
Chr1:158671049 [GRCh38]
Chr1:158640839 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.812+20T>C |
single nucleotide variant |
not provided [RCV001509082] |
Chr1:158678381 [GRCh38]
Chr1:158648171 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV002291000]|not provided [RCV001509083] |
Chr1:158680601 [GRCh38]
Chr1:158650391 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.461TGC[3] (p.Leu155dup) |
microsatellite |
not provided [RCV001509085] |
Chr1:158681591..158681592 [GRCh38]
Chr1:158651381..158651382 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.5665-24T>C |
single nucleotide variant |
not provided [RCV001507998] |
Chr1:158627031 [GRCh38]
Chr1:158596821 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5040C>T (p.Asn1680=) |
single nucleotide variant |
SPTA1-related disorder [RCV004550275]|not provided [RCV001508000] |
Chr1:158638182 [GRCh38]
Chr1:158607972 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.957+1G>A |
single nucleotide variant |
not provided [RCV001509081] |
Chr1:158677689 [GRCh38]
Chr1:158647479 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV002250762]|not provided [RCV001507486] |
Chr1:158653323 [GRCh38]
Chr1:158623113 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.3670C>T (p.Arg1224Trp) |
single nucleotide variant |
not provided [RCV001756481] |
Chr1:158648553 [GRCh38]
Chr1:158618343 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.165dup (p.Gln56fs) |
duplication |
not provided [RCV001783801] |
Chr1:158685206..158685207 [GRCh38]
Chr1:158654996..158654997 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4484A>C (p.Lys1495Thr) |
single nucleotide variant |
not provided [RCV001769423] |
Chr1:158642935 [GRCh38]
Chr1:158612725 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1292A>G (p.Glu431Gly) |
single nucleotide variant |
not specified [RCV004313921] |
Chr1:158674387 [GRCh38]
Chr1:158644177 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4194+1del |
deletion |
not provided [RCV001783800] |
Chr1:158645187 [GRCh38]
Chr1:158614977 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.3823C>T (p.Gln1275Ter) |
single nucleotide variant |
SPTA1-related disorder [RCV004736646]|not provided [RCV003727067] |
Chr1:158647612 [GRCh38]
Chr1:158617402 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.4159C>T (p.Arg1387Cys) |
single nucleotide variant |
not provided [RCV001765801]|not specified [RCV004040209] |
Chr1:158645223 [GRCh38]
Chr1:158615013 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3830G>A (p.Arg1277His) |
single nucleotide variant |
not provided [RCV001754219]|not specified [RCV004040054] |
Chr1:158647605 [GRCh38]
Chr1:158617395 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3631_3632del (p.Pro1211fs) |
deletion |
not provided [RCV001785022] |
Chr1:158648591..158648592 [GRCh38]
Chr1:158618381..158618382 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.24+1G>A |
single nucleotide variant |
not provided [RCV001810810] |
Chr1:158686493 [GRCh38]
Chr1:158656283 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.262C>T (p.Gln88Ter) |
single nucleotide variant |
not provided [RCV001783802] |
Chr1:158685110 [GRCh38]
Chr1:158654900 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.3570-11T>C |
single nucleotide variant |
not provided [RCV001811734] |
Chr1:158648664 [GRCh38]
Chr1:158618454 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4339-126A>G |
single nucleotide variant |
not provided [RCV001812608] |
Chr1:158643551 [GRCh38]
Chr1:158613341 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6600+5G>A |
single nucleotide variant |
not provided [RCV001768636] |
Chr1:158617532 [GRCh38]
Chr1:158587322 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5308C>T (p.Gln1770Ter) |
single nucleotide variant |
Abnormality of blood and blood-forming tissues [RCV001814566] |
Chr1:158636643 [GRCh38]
Chr1:158606433 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.7094_7095delinsAG (p.Ala2365Glu) |
indel |
not provided [RCV001811909] |
Chr1:158612856..158612857 [GRCh38]
Chr1:158582646..158582647 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.858A>G (p.Val286=) |
single nucleotide variant |
not provided [RCV001812529] |
Chr1:158677789 [GRCh38]
Chr1:158647579 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2889C>T (p.Asn963=) |
single nucleotide variant |
not provided [RCV001812579] |
Chr1:158656573 [GRCh38]
Chr1:158626363 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn) |
single nucleotide variant |
not provided [RCV001810778] |
Chr1:158623188 [GRCh38]
Chr1:158592978 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1778del (p.Asp593fs) |
deletion |
not provided [RCV001810815] |
Chr1:158669463 [GRCh38]
Chr1:158639253 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.5303C>T (p.Ala1768Val) |
single nucleotide variant |
not provided [RCV001810816] |
Chr1:158636648 [GRCh38]
Chr1:158606438 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.121C>A (p.Arg41=) |
single nucleotide variant |
not provided [RCV001810802] |
Chr1:158685251 [GRCh38]
Chr1:158655041 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.5834-13T>C |
single nucleotide variant |
not provided [RCV001811739] |
Chr1:158626235 [GRCh38]
Chr1:158596025 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV003444931]|not provided [RCV001806280] |
Chr1:158647594 [GRCh38]
Chr1:158617384 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1086A>G (p.Arg362=) |
single nucleotide variant |
not provided [RCV001810806] |
Chr1:158676167 [GRCh38]
Chr1:158645957 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.803G>A (p.Arg268Gln) |
single nucleotide variant |
not provided [RCV001811775] |
Chr1:158678410 [GRCh38]
Chr1:158648200 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.957G>A (p.Lys319=) |
single nucleotide variant |
not provided [RCV001811910] |
Chr1:158677690 [GRCh38]
Chr1:158647480 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5620C>T (p.Arg1874Ter) |
single nucleotide variant |
not provided [RCV001811750] |
Chr1:158627669 [GRCh38]
Chr1:158597459 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4875+13G>A |
single nucleotide variant |
not provided [RCV001811756] |
Chr1:158639857 [GRCh38]
Chr1:158609647 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5310+17A>G |
single nucleotide variant |
not provided [RCV001810826] |
Chr1:158636624 [GRCh38]
Chr1:158606414 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.459_460insATGCTGCGGGCCCTGCTGTTAGAGCTGACCCTGGAGAAGGGTGACCAG (p.Gln153_Leu154insMetLeuArgAlaLeuLeuLeuGluLeuThrLeuGluLysGlyAspGln) |
insertion |
not provided [RCV001811801] |
Chr1:158681598..158681599 [GRCh38]
Chr1:158651388..158651389 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1085G>A (p.Arg362Lys) |
single nucleotide variant |
not provided [RCV002021270] |
Chr1:158676168 [GRCh38]
Chr1:158645958 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter) |
single nucleotide variant |
not provided [RCV001909899] |
Chr1:158654709 [GRCh38]
Chr1:158624499 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1q23.1(chr1:158489546-158889411)x1 |
copy number loss |
not provided [RCV001827719] |
Chr1:158489546..158889411 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4519C>T (p.Arg1507Ter) |
single nucleotide variant |
Elliptocytosis 2 [RCV001843829]|not provided [RCV001885391] |
Chr1:158642900 [GRCh38]
Chr1:158612690 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.1460_1463dup (p.Asp489fs) |
duplication |
not provided [RCV001943384] |
Chr1:158672083..158672084 [GRCh38]
Chr1:158641873..158641874 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NC_000001.10:g.(?_158581054)_(162750036_?)dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] |
Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3 |
uncertain significance|no classifications from unflagged records |
| NM_003126.4(SPTA1):c.4140G>C (p.Leu1380Phe) |
single nucleotide variant |
not provided [RCV001897593] |
Chr1:158645242 [GRCh38]
Chr1:158615032 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.32A>G (p.Glu11Gly) |
single nucleotide variant |
not provided [RCV002013930]|not specified [RCV004046674] |
Chr1:158685340 [GRCh38]
Chr1:158655130 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.3952G>C (p.Ala1318Pro) |
single nucleotide variant |
not provided [RCV002049521] |
Chr1:158645539 [GRCh38]
Chr1:158615329 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3314A>C (p.Asn1105Thr) |
single nucleotide variant |
not provided [RCV001881533] |
Chr1:158652528 [GRCh38]
Chr1:158622318 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.594G>A (p.Lys198=) |
single nucleotide variant |
not provided [RCV002111219] |
Chr1:158680667 [GRCh38]
Chr1:158650457 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.25G>C (p.Val9Leu) |
single nucleotide variant |
not provided [RCV002227318] |
Chr1:158685347 [GRCh38]
Chr1:158655137 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4419G>A (p.Thr1473=) |
single nucleotide variant |
SPTA1-related disorder [RCV004738513]|not provided [RCV002197452] |
Chr1:158643345 [GRCh38]
Chr1:158613135 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2161G>A (p.Glu721Lys) |
single nucleotide variant |
not provided [RCV003110543] |
Chr1:158666375 [GRCh38]
Chr1:158636165 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter) |
single nucleotide variant |
not provided [RCV003112097] |
Chr1:158638120 [GRCh38]
Chr1:158607910 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NC_000001.10:g.(?_158641113)_(158646105_?)del |
deletion |
not provided [RCV003113212] |
Chr1:158641113..158646105 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter) |
single nucleotide variant |
not provided [RCV003120138] |
Chr1:158635914 [GRCh38]
Chr1:158605704 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.3134G>A (p.Arg1045Gln) |
single nucleotide variant |
not provided [RCV003120166] |
Chr1:158653328 [GRCh38]
Chr1:158623118 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3997-5C>T |
single nucleotide variant |
not provided [RCV003120174] |
Chr1:158645390 [GRCh38]
Chr1:158615180 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3720C>T (p.Thr1240=) |
single nucleotide variant |
not provided [RCV003120179] |
Chr1:158647715 [GRCh38]
Chr1:158617505 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2954del (p.Leu985fs) |
deletion |
not provided [RCV003120180] |
Chr1:158654693 [GRCh38]
Chr1:158624483 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.1552C>T (p.His518Tyr) |
single nucleotide variant |
not provided [RCV003120200] |
Chr1:158671390 [GRCh38]
Chr1:158641180 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1088A>G (p.Tyr363Cys) |
single nucleotide variant |
not provided [RCV003120251] |
Chr1:158676165 [GRCh38]
Chr1:158645955 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4174G>C (p.Asp1392His) |
single nucleotide variant |
not provided [RCV003120358]|not specified [RCV004245973] |
Chr1:158645208 [GRCh38]
Chr1:158614998 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2167C>T (p.Gln723Ter) |
single nucleotide variant |
Elliptocytosis 2 [RCV004797363] |
Chr1:158666369 [GRCh38]
Chr1:158636159 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.1471T>C (p.Trp491Arg) |
single nucleotide variant |
not provided [RCV002227337] |
Chr1:158672076 [GRCh38]
Chr1:158641866 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1007C>T (p.Ser336Leu) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV002250880] |
Chr1:158676246 [GRCh38]
Chr1:158646036 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4580C>G (p.Ser1527Cys) |
single nucleotide variant |
See cases [RCV002252512]|not provided [RCV005095860] |
Chr1:158642839 [GRCh38]
Chr1:158612629 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1490C>A (p.Ala497Asp) |
single nucleotide variant |
not provided [RCV002261500] |
Chr1:158671452 [GRCh38]
Chr1:158641242 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.391G>A (p.Ala131Thr) |
single nucleotide variant |
not provided [RCV002261509] |
Chr1:158681667 [GRCh38]
Chr1:158651457 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6592G>A (p.Ala2198Thr) |
single nucleotide variant |
Elliptocytosis 2 [RCV002288446] |
Chr1:158617545 [GRCh38]
Chr1:158587335 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2768A>G (p.Asp923Gly) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV002291025]|not provided [RCV003138100] |
Chr1:158657514 [GRCh38]
Chr1:158627304 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_003126.4(SPTA1):c.1700T>C (p.Leu567Pro) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV002291026] |
Chr1:158669541 [GRCh38]
Chr1:158639331 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.27del (p.Val10fs) |
deletion |
Hereditary spherocytosis type 3 [RCV002291030] |
Chr1:158685345 [GRCh38]
Chr1:158655135 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.5030G>A (p.Gly1677Glu) |
single nucleotide variant |
not provided [RCV002261954] |
Chr1:158638192 [GRCh38]
Chr1:158607982 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4421G>A (p.Arg1474Gln) |
single nucleotide variant |
not provided [RCV002261965]|not specified [RCV004047425] |
Chr1:158643343 [GRCh38]
Chr1:158613133 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7189G>A (p.Asp2397Asn) |
single nucleotide variant |
not provided [RCV002261925] |
Chr1:158611335 [GRCh38]
Chr1:158581125 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6689A>G (p.Asp2230Gly) |
single nucleotide variant |
not provided [RCV002261931] |
Chr1:158615315 [GRCh38]
Chr1:158585105 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6136G>A (p.Val2046Met) |
single nucleotide variant |
not provided [RCV002261934]|not specified [RCV004047421] |
Chr1:158620451 [GRCh38]
Chr1:158590241 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1490C>G (p.Ala497Gly) |
single nucleotide variant |
not provided [RCV002267436] |
Chr1:158671452 [GRCh38]
Chr1:158641242 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2335_2352delinsGCTCTCA (p.Lys779fs) |
indel |
Hereditary spherocytosis type 3 [RCV002287301] |
Chr1:158662814..158662831 [GRCh38]
Chr1:158632604..158632621 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.853C>G (p.Pro285Ala) |
single nucleotide variant |
not provided [RCV002267437] |
Chr1:158677794 [GRCh38]
Chr1:158647584 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1902G>T (p.Lys634Asn) |
single nucleotide variant |
not provided [RCV002261493] |
Chr1:158667994 [GRCh38]
Chr1:158637784 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4981-25C>T |
single nucleotide variant |
not provided [RCV002261958] |
Chr1:158638266 [GRCh38]
Chr1:158608056 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5432G>A (p.Arg1811Gln) |
single nucleotide variant |
Pyropoikilocytosis, hereditary [RCV003339942]|not provided [RCV002261951] |
Chr1:158635913 [GRCh38]
Chr1:158605703 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4823G>A (p.Arg1608His) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV002291027]|not provided [RCV004779264] |
Chr1:158639922 [GRCh38]
Chr1:158609712 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_003126.4(SPTA1):c.5269C>T (p.Arg1757Cys) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV002291028]|SPTA1-related disorder [RCV004548241] |
Chr1:158636682 [GRCh38]
Chr1:158606472 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_003126.4(SPTA1):c.4443-1G>A |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV002291031] |
Chr1:158642977 [GRCh38]
Chr1:158612767 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.1910T>C (p.Leu637Pro) |
single nucleotide variant |
not provided [RCV002261490] |
Chr1:158667986 [GRCh38]
Chr1:158637776 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1403G>C (p.Arg468Pro) |
single nucleotide variant |
not provided [RCV002261503] |
Chr1:158672144 [GRCh38]
Chr1:158641934 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3123G>A (p.Met1041Ile) |
single nucleotide variant |
not provided [RCV002279147] |
Chr1:158653339 [GRCh38]
Chr1:158623129 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4906G>T (p.Ala1636Ser) |
single nucleotide variant |
not specified [RCV004328477] |
Chr1:158639656 [GRCh38]
Chr1:158609446 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3730G>A (p.Glu1244Lys) |
single nucleotide variant |
not provided [RCV002304825] |
Chr1:158647705 [GRCh38]
Chr1:158617495 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3376-1G>A |
single nucleotide variant |
not provided [RCV003131611] |
Chr1:158651469 [GRCh38]
Chr1:158621259 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.6154del (p.Ala2052fs) |
deletion |
not provided [RCV002308904] |
Chr1:158620433 [GRCh38]
Chr1:158590223 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg) |
single nucleotide variant |
not provided [RCV002614623] |
Chr1:158648549 [GRCh38]
Chr1:158618339 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.5653A>T (p.Ile1885Phe) |
single nucleotide variant |
not specified [RCV004126850] |
Chr1:158627636 [GRCh38]
Chr1:158597426 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1595T>C (p.Ile532Thr) |
single nucleotide variant |
not specified [RCV004100857] |
Chr1:158671347 [GRCh38]
Chr1:158641137 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1985T>C (p.Leu662Pro) |
single nucleotide variant |
not provided [RCV002839172] |
Chr1:158667911 [GRCh38]
Chr1:158637701 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val) |
single nucleotide variant |
SPTA1-related disorder [RCV004550334]|not provided [RCV002995274] |
Chr1:158618054 [GRCh38]
Chr1:158587844 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.4448A>G (p.Lys1483Arg) |
single nucleotide variant |
not provided [RCV003140228]|not specified [RCV004238509] |
Chr1:158642971 [GRCh38]
Chr1:158612761 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6422G>A (p.Arg2141Gln) |
single nucleotide variant |
not provided [RCV003730260]|not specified [RCV004090316] |
Chr1:158619330 [GRCh38]
Chr1:158589120 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1300C>G (p.Gln434Glu) |
single nucleotide variant |
not provided [RCV004790466]|not specified [RCV004226475] |
Chr1:158674379 [GRCh38]
Chr1:158644169 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.4480A>G (p.Thr1494Ala) |
single nucleotide variant |
not provided [RCV003778561]|not specified [RCV004217131] |
Chr1:158642939 [GRCh38]
Chr1:158612729 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6940G>A (p.Glu2314Lys) |
single nucleotide variant |
not provided [RCV002614698] |
Chr1:158613770 [GRCh38]
Chr1:158583560 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5530C>T (p.Arg1844Ter) |
single nucleotide variant |
not provided [RCV002511601] |
Chr1:158634578 [GRCh38]
Chr1:158604368 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.427C>A (p.Leu143Met) |
single nucleotide variant |
not provided [RCV005099016]|not specified [RCV004202920] |
Chr1:158681631 [GRCh38]
Chr1:158651421 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.4115C>G (p.Ala1372Gly) |
single nucleotide variant |
not specified [RCV004108629] |
Chr1:158645267 [GRCh38]
Chr1:158615057 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1702C>T (p.Arg568Cys) |
single nucleotide variant |
not provided [RCV002947620]|not specified [RCV004067114] |
Chr1:158669539 [GRCh38]
Chr1:158639329 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.353G>A (p.Arg118Gln) |
single nucleotide variant |
not provided [RCV005059415]|not specified [RCV004221686] |
Chr1:158683408 [GRCh38]
Chr1:158653198 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.3988A>G (p.Arg1330Gly) |
single nucleotide variant |
not specified [RCV004145491] |
Chr1:158645503 [GRCh38]
Chr1:158615293 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4226G>C (p.Ser1409Thr) |
single nucleotide variant |
not specified [RCV004175351] |
Chr1:158644365 [GRCh38]
Chr1:158614155 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5531G>A (p.Arg1844Gln) |
single nucleotide variant |
not specified [RCV004207388] |
Chr1:158634577 [GRCh38]
Chr1:158604367 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6752G>A (p.Arg2251Gln) |
single nucleotide variant |
not provided [RCV003140233]|not specified [RCV004243797] |
Chr1:158615252 [GRCh38]
Chr1:158585042 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4408G>T (p.Glu1470Ter) |
single nucleotide variant |
not provided [RCV002871520] |
Chr1:158643356 [GRCh38]
Chr1:158613146 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.3589G>C (p.Glu1197Gln) |
single nucleotide variant |
not specified [RCV004227429] |
Chr1:158648634 [GRCh38]
Chr1:158618424 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1201G>A (p.Asp401Asn) |
single nucleotide variant |
not specified [RCV004130073] |
Chr1:158674587 [GRCh38]
Chr1:158644377 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5440A>C (p.Lys1814Gln) |
single nucleotide variant |
not specified [RCV004151798] |
Chr1:158634668 [GRCh38]
Chr1:158604458 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6211C>A (p.His2071Asn) |
single nucleotide variant |
not specified [RCV004106528] |
Chr1:158620376 [GRCh38]
Chr1:158590166 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6925A>G (p.Met2309Val) |
single nucleotide variant |
not specified [RCV004243766] |
Chr1:158613785 [GRCh38]
Chr1:158583575 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6983C>T (p.Pro2328Leu) |
single nucleotide variant |
not specified [RCV004216073] |
Chr1:158613727 [GRCh38]
Chr1:158583517 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4789A>G (p.Asn1597Asp) |
single nucleotide variant |
not provided [RCV002705319] |
Chr1:158639956 [GRCh38]
Chr1:158609746 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4442_4443insTCG (p.Asp1480_Arg1481insSer) |
insertion |
not provided [RCV002847357] |
Chr1:158643321..158643322 [GRCh38]
Chr1:158613111..158613112 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.491_505del (p.Val164_Ala168del) |
deletion |
not provided [RCV002847078] |
Chr1:158681553..158681567 [GRCh38]
Chr1:158651343..158651357 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3536T>G (p.Leu1179Arg) |
single nucleotide variant |
not specified [RCV004123299] |
Chr1:158649889 [GRCh38]
Chr1:158619679 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter) |
single nucleotide variant |
not provided [RCV002760406] |
Chr1:158654667 [GRCh38]
Chr1:158624457 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.1343G>C (p.Arg448Pro) |
single nucleotide variant |
not specified [RCV004161891] |
Chr1:158674336 [GRCh38]
Chr1:158644126 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3841C>G (p.Arg1281Gly) |
single nucleotide variant |
not provided [RCV002952543] |
Chr1:158647594 [GRCh38]
Chr1:158617384 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2920del (p.Glu974fs) |
deletion |
not provided [RCV002975702] |
Chr1:158654727 [GRCh38]
Chr1:158624517 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.5616G>C (p.Glu1872Asp) |
single nucleotide variant |
not provided [RCV004790408]|not specified [RCV004086234] |
Chr1:158627673 [GRCh38]
Chr1:158597463 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3619A>G (p.Ser1207Gly) |
single nucleotide variant |
not specified [RCV004146890] |
Chr1:158648604 [GRCh38]
Chr1:158618394 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3514G>T (p.Ala1172Ser) |
single nucleotide variant |
not provided [RCV002569873] |
Chr1:158649911 [GRCh38]
Chr1:158619701 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3671G>A (p.Arg1224Gln) |
single nucleotide variant |
not specified [RCV004093352] |
Chr1:158648552 [GRCh38]
Chr1:158618342 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2020G>C (p.Glu674Gln) |
single nucleotide variant |
not provided [RCV003738331]|not specified [RCV004184283] |
Chr1:158667876 [GRCh38]
Chr1:158637666 [GRCh37]
Chr1:1q23.1 |
benign|uncertain significance |
| NM_003126.4(SPTA1):c.2914C>G (p.Pro972Ala) |
single nucleotide variant |
not specified [RCV004099773] |
Chr1:158654733 [GRCh38]
Chr1:158624523 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2000G>C (p.Ser667Thr) |
single nucleotide variant |
not specified [RCV004167064] |
Chr1:158667896 [GRCh38]
Chr1:158637686 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5756C>T (p.Ala1919Val) |
single nucleotide variant |
not specified [RCV004160066] |
Chr1:158626916 [GRCh38]
Chr1:158596706 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5801A>T (p.Asn1934Ile) |
single nucleotide variant |
not provided [RCV002797315] |
Chr1:158626871 [GRCh38]
Chr1:158596661 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2312T>C (p.Leu771Ser) |
single nucleotide variant |
not specified [RCV004142894] |
Chr1:158662854 [GRCh38]
Chr1:158632644 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1113-9T>C |
single nucleotide variant |
not provided [RCV002621686] |
Chr1:158674684 [GRCh38]
Chr1:158644474 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5531G>C (p.Arg1844Pro) |
single nucleotide variant |
not provided [RCV002637042] |
Chr1:158634577 [GRCh38]
Chr1:158604367 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1305C>A (p.Asp435Glu) |
single nucleotide variant |
not specified [RCV004145949] |
Chr1:158674374 [GRCh38]
Chr1:158644164 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser) |
single nucleotide variant |
not provided [RCV003140201]|not specified [RCV004197759] |
Chr1:158681649 [GRCh38]
Chr1:158651439 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.4132G>C (p.Asp1378His) |
single nucleotide variant |
not specified [RCV004228964] |
Chr1:158645250 [GRCh38]
Chr1:158615040 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5232T>A (p.Asp1744Glu) |
single nucleotide variant |
not specified [RCV004102980] |
Chr1:158636719 [GRCh38]
Chr1:158606509 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3790A>G (p.Lys1264Glu) |
single nucleotide variant |
not specified [RCV004157060] |
Chr1:158647645 [GRCh38]
Chr1:158617435 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6541C>A (p.Leu2181Met) |
single nucleotide variant |
not specified [RCV004107025] |
Chr1:158618046 [GRCh38]
Chr1:158587836 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3680G>T (p.Gly1227Val) |
single nucleotide variant |
not specified [RCV004107984] |
Chr1:158648543 [GRCh38]
Chr1:158618333 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6304T>G (p.Leu2102Val) |
single nucleotide variant |
not specified [RCV004203675] |
Chr1:158620283 [GRCh38]
Chr1:158590073 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6006G>T (p.Gln2002His) |
single nucleotide variant |
not provided [RCV002625978] |
Chr1:158623097 [GRCh38]
Chr1:158592887 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4338+19G>C |
single nucleotide variant |
not provided [RCV002574358] |
Chr1:158644234 [GRCh38]
Chr1:158614024 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.1790G>A (p.Trp597Ter) |
single nucleotide variant |
not provided [RCV003005829] |
Chr1:158669451 [GRCh38]
Chr1:158639241 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.4697T>C (p.Ile1566Thr) |
single nucleotide variant |
not provided [RCV002642553] |
Chr1:158642451 [GRCh38]
Chr1:158612241 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1248+16T>G |
single nucleotide variant |
not provided [RCV002594464] |
Chr1:158674524 [GRCh38]
Chr1:158644314 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4990A>G (p.Lys1664Glu) |
single nucleotide variant |
not specified [RCV004099432] |
Chr1:158638232 [GRCh38]
Chr1:158608022 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1747C>T (p.Leu583Phe) |
single nucleotide variant |
not provided [RCV003008035] |
Chr1:158669494 [GRCh38]
Chr1:158639284 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1370A>G (p.Asn457Ser) |
single nucleotide variant |
not provided [RCV002573651] |
Chr1:158672177 [GRCh38]
Chr1:158641967 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5665-17C>A |
single nucleotide variant |
not provided [RCV003042296] |
Chr1:158627024 [GRCh38]
Chr1:158596814 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5449G>A (p.Glu1817Lys) |
single nucleotide variant |
not specified [RCV004106955] |
Chr1:158634659 [GRCh38]
Chr1:158604449 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1364A>G (p.Asp455Gly) |
single nucleotide variant |
not specified [RCV004105294] |
Chr1:158672183 [GRCh38]
Chr1:158641973 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3187C>G (p.Gln1063Glu) |
single nucleotide variant |
not provided [RCV005099871]|not specified [RCV004179294] |
Chr1:158653275 [GRCh38]
Chr1:158623065 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3622G>A (p.Ala1208Thr) |
single nucleotide variant |
not provided [RCV003481437]|not specified [RCV004228932] |
Chr1:158648601 [GRCh38]
Chr1:158618391 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.4517A>G (p.Tyr1506Cys) |
single nucleotide variant |
not provided [RCV002596846] |
Chr1:158642902 [GRCh38]
Chr1:158612692 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4198T>C (p.Phe1400Leu) |
single nucleotide variant |
not specified [RCV004115080] |
Chr1:158644393 [GRCh38]
Chr1:158614183 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5001T>G (p.Asn1667Lys) |
single nucleotide variant |
not specified [RCV004165993] |
Chr1:158638221 [GRCh38]
Chr1:158608011 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6274C>T (p.Leu2092=) |
single nucleotide variant |
not provided [RCV002937381] |
Chr1:158620313 [GRCh38]
Chr1:158590103 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2659C>T (p.Arg887Ter) |
single nucleotide variant |
not provided [RCV002966124] |
Chr1:158657623 [GRCh38]
Chr1:158627413 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.4058C>T (p.Ala1353Val) |
single nucleotide variant |
not provided [RCV003228131]|not specified [RCV004214923] |
Chr1:158645324 [GRCh38]
Chr1:158615114 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.466C>T (p.Arg156Trp) |
single nucleotide variant |
not provided [RCV002967112] |
Chr1:158681592 [GRCh38]
Chr1:158651382 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.1113-5C>T |
single nucleotide variant |
not provided [RCV002598295] |
Chr1:158674680 [GRCh38]
Chr1:158644470 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2132C>T (p.Thr711Ile) |
single nucleotide variant |
not specified [RCV004127770] |
Chr1:158666404 [GRCh38]
Chr1:158636194 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5627A>T (p.Gln1876Leu) |
single nucleotide variant |
not specified [RCV004134769] |
Chr1:158627662 [GRCh38]
Chr1:158597452 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6379C>G (p.Leu2127Val) |
single nucleotide variant |
not specified [RCV004173505] |
Chr1:158620208 [GRCh38]
Chr1:158589998 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2174G>A (p.Arg725Gln) |
single nucleotide variant |
not specified [RCV004073936] |
Chr1:158666362 [GRCh38]
Chr1:158636152 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2588-7T>A |
single nucleotide variant |
not provided [RCV002630733] |
Chr1:158657701 [GRCh38]
Chr1:158627491 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2812C>G (p.Leu938Val) |
single nucleotide variant |
not provided [RCV003089361]|not specified [RCV004867843] |
Chr1:158656650 [GRCh38]
Chr1:158626440 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1941G>A (p.Met647Ile) |
single nucleotide variant |
not specified [RCV004186856] |
Chr1:158667955 [GRCh38]
Chr1:158637745 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3803A>G (p.Asn1268Ser) |
single nucleotide variant |
not provided [RCV002579055] |
Chr1:158647632 [GRCh38]
Chr1:158617422 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.1718C>G (p.Thr573Ser) |
single nucleotide variant |
not specified [RCV004142629] |
Chr1:158669523 [GRCh38]
Chr1:158639313 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.988C>T (p.Leu330=) |
single nucleotide variant |
not provided [RCV003026898] |
Chr1:158676265 [GRCh38]
Chr1:158646055 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter) |
single nucleotide variant |
not provided [RCV002898897] |
Chr1:158620268 [GRCh38]
Chr1:158590058 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.2290A>G (p.Ile764Val) |
single nucleotide variant |
not specified [RCV004135842] |
Chr1:158662876 [GRCh38]
Chr1:158632666 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6228T>A (p.Asn2076Lys) |
single nucleotide variant |
not provided [RCV002670918] |
Chr1:158620359 [GRCh38]
Chr1:158590149 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7201C>G (p.Arg2401Gly) |
single nucleotide variant |
not specified [RCV004138473] |
Chr1:158611323 [GRCh38]
Chr1:158581113 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3828G>A (p.Gly1276=) |
single nucleotide variant |
not provided [RCV003086716] |
Chr1:158647607 [GRCh38]
Chr1:158617397 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.3968G>A (p.Gly1323Asp) |
single nucleotide variant |
not specified [RCV004152552] |
Chr1:158645523 [GRCh38]
Chr1:158615313 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3468A>T (p.Gln1156His) |
single nucleotide variant |
not specified [RCV004174883] |
Chr1:158651376 [GRCh38]
Chr1:158621166 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3469A>G (p.Ile1157Val) |
single nucleotide variant |
not specified [RCV004174884] |
Chr1:158651375 [GRCh38]
Chr1:158621165 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3311A>G (p.Glu1104Gly) |
single nucleotide variant |
not specified [RCV004168848] |
Chr1:158652531 [GRCh38]
Chr1:158622321 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.463C>T (p.Leu155=) |
single nucleotide variant |
not provided [RCV002806339] |
Chr1:158681595 [GRCh38]
Chr1:158651385 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2805+4A>T |
single nucleotide variant |
not provided [RCV002944174] |
Chr1:158657473 [GRCh38]
Chr1:158627263 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1913A>C (p.Glu638Ala) |
single nucleotide variant |
not provided [RCV002653751] |
Chr1:158667983 [GRCh38]
Chr1:158637773 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5550A>G (p.Thr1850=) |
single nucleotide variant |
not provided [RCV002944289] |
Chr1:158634558 [GRCh38]
Chr1:158604348 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.4876-19C>T |
single nucleotide variant |
not provided [RCV002583251] |
Chr1:158639705 [GRCh38]
Chr1:158609495 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.1069G>T (p.Ala357Ser) |
single nucleotide variant |
not provided [RCV002584330] |
Chr1:158676184 [GRCh38]
Chr1:158645974 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5433-19G>C |
single nucleotide variant |
not provided [RCV002589639] |
Chr1:158634694 [GRCh38]
Chr1:158604484 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.955A>T (p.Lys319Ter) |
single nucleotide variant |
not provided [RCV003132653] |
Chr1:158677692 [GRCh38]
Chr1:158647482 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.5566-2A>T |
single nucleotide variant |
not provided [RCV003132683] |
Chr1:158627725 [GRCh38]
Chr1:158597515 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.2898+2T>C |
single nucleotide variant |
not provided [RCV003132644] |
Chr1:158656562 [GRCh38]
Chr1:158626352 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.7134+2T>G |
single nucleotide variant |
not provided [RCV003132659] |
Chr1:158612815 [GRCh38]
Chr1:158582605 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.2335_2351delinsGCTCTCA (p.Lys779fs) |
indel |
not provided [RCV003132660] |
Chr1:158662815..158662831 [GRCh38]
Chr1:158632605..158632621 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.3037-2A>G |
single nucleotide variant |
not provided [RCV003132677] |
Chr1:158653427 [GRCh38]
Chr1:158623217 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.5665-2A>G |
single nucleotide variant |
not provided [RCV003131610] |
Chr1:158627009 [GRCh38]
Chr1:158596799 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs) |
duplication |
not provided [RCV003134687] |
Chr1:158645275..158645276 [GRCh38]
Chr1:158615065..158615066 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.798dup (p.Gln267fs) |
duplication |
not provided [RCV003132648] |
Chr1:158678414..158678415 [GRCh38]
Chr1:158648204..158648205 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.134G>C (p.Arg45Thr) |
single nucleotide variant |
not provided [RCV003132655] |
Chr1:158685238 [GRCh38]
Chr1:158655028 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.7201C>T (p.Arg2401Ter) |
single nucleotide variant |
not provided [RCV003131608] |
Chr1:158611323 [GRCh38]
Chr1:158581113 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4339-1G>T |
single nucleotide variant |
not provided [RCV003131600] |
Chr1:158643426 [GRCh38]
Chr1:158613216 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.3608G>A (p.Cys1203Tyr) |
single nucleotide variant |
not specified [RCV004304607] |
Chr1:158648615 [GRCh38]
Chr1:158618405 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1675G>A (p.Gly559Arg) |
single nucleotide variant |
not provided [RCV003481462]|not specified [RCV004254845] |
Chr1:158669711 [GRCh38]
Chr1:158639501 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2010G>T (p.Glu670Asp) |
single nucleotide variant |
not specified [RCV004283278] |
Chr1:158667886 [GRCh38]
Chr1:158637676 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.386C>T (p.Thr129Met) |
single nucleotide variant |
not specified [RCV004248977] |
Chr1:158683375 [GRCh38]
Chr1:158653165 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7069A>G (p.Ile2357Val) |
single nucleotide variant |
not specified [RCV004277182] |
Chr1:158612882 [GRCh38]
Chr1:158582672 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2027C>T (p.Thr676Ile) |
single nucleotide variant |
not specified [RCV004267544] |
Chr1:158667869 [GRCh38]
Chr1:158637659 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4879G>A (p.Glu1627Lys) |
single nucleotide variant |
not specified [RCV004275186] |
Chr1:158639683 [GRCh38]
Chr1:158609473 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2543G>A (p.Arg848His) |
single nucleotide variant |
not specified [RCV004259193] |
Chr1:158661331 [GRCh38]
Chr1:158631121 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2388G>T (p.Gln796His) |
single nucleotide variant |
not specified [RCV004280245] |
Chr1:158662778 [GRCh38]
Chr1:158632568 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3442G>A (p.Gly1148Arg) |
single nucleotide variant |
not specified [RCV004254182] |
Chr1:158651402 [GRCh38]
Chr1:158621192 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1222C>G (p.Leu408Val) |
single nucleotide variant |
not specified [RCV004254184] |
Chr1:158674566 [GRCh38]
Chr1:158644356 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3488C>T (p.Ser1163Phe) |
single nucleotide variant |
not specified [RCV004270006] |
Chr1:158649937 [GRCh38]
Chr1:158619727 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3699A>G (p.Val1233=) |
single nucleotide variant |
not provided [RCV003138656] |
Chr1:158648524 [GRCh38]
Chr1:158618314 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1398C>T (p.Asp466=) |
single nucleotide variant |
not provided [RCV003138657] |
Chr1:158672149 [GRCh38]
Chr1:158641939 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5238G>T (p.Gln1746His) |
single nucleotide variant |
not provided [RCV003138660] |
Chr1:158636713 [GRCh38]
Chr1:158606503 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1342C>T (p.Arg448Trp) |
single nucleotide variant |
not provided [RCV003138661] |
Chr1:158674337 [GRCh38]
Chr1:158644127 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2660G>A (p.Arg887Gln) |
single nucleotide variant |
not provided [RCV003138662] |
Chr1:158657622 [GRCh38]
Chr1:158627412 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2699A>G (p.Gln900Arg) |
single nucleotide variant |
not provided [RCV003138663] |
Chr1:158657583 [GRCh38]
Chr1:158627373 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7119AGA[1] (p.Glu2374del) |
microsatellite |
not provided [RCV003138668] |
Chr1:158612827..158612829 [GRCh38]
Chr1:158582617..158582619 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5238G>C (p.Gln1746His) |
single nucleotide variant |
not provided [RCV003138669] |
Chr1:158636713 [GRCh38]
Chr1:158606503 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6236G>A (p.Arg2079Gln) |
single nucleotide variant |
not provided [RCV003138670] |
Chr1:158620351 [GRCh38]
Chr1:158590141 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.409C>T (p.Arg137Cys) |
single nucleotide variant |
not provided [RCV003138671]|not specified [RCV004867859] |
Chr1:158681649 [GRCh38]
Chr1:158651439 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6004C>A (p.Gln2002Lys) |
single nucleotide variant |
not provided [RCV003138672] |
Chr1:158623099 [GRCh38]
Chr1:158592889 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4733T>A (p.Met1578Lys) |
single nucleotide variant |
not provided [RCV003138675] |
Chr1:158642415 [GRCh38]
Chr1:158612205 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.199A>G (p.Lys67Glu) |
single nucleotide variant |
not provided [RCV003138676] |
Chr1:158685173 [GRCh38]
Chr1:158654963 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6107T>G (p.Leu2036Arg) |
single nucleotide variant |
not provided [RCV003138677] |
Chr1:158622996 [GRCh38]
Chr1:158592786 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4306C>T (p.Arg1436Trp) |
single nucleotide variant |
not provided [RCV003138681] |
Chr1:158644285 [GRCh38]
Chr1:158614075 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1121G>A (p.Arg374Gln) |
single nucleotide variant |
not provided [RCV003138684] |
Chr1:158674667 [GRCh38]
Chr1:158644457 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2204C>T (p.Ala735Val) |
single nucleotide variant |
not provided [RCV003138685] |
Chr1:158666332 [GRCh38]
Chr1:158636122 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.2036A>C (p.Lys679Thr) |
single nucleotide variant |
not provided [RCV003138686] |
Chr1:158667860 [GRCh38]
Chr1:158637650 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.179G>C (p.Arg60Pro) |
single nucleotide variant |
not provided [RCV003138687] |
Chr1:158685193 [GRCh38]
Chr1:158654983 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2927T>C (p.Val976Ala) |
single nucleotide variant |
not provided [RCV003138688] |
Chr1:158654720 [GRCh38]
Chr1:158624510 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3710A>C (p.Asp1237Ala) |
single nucleotide variant |
not provided [RCV003138689] |
Chr1:158648513 [GRCh38]
Chr1:158618303 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4702_4703inv (p.Cys1568His) |
inversion |
not provided [RCV003138691] |
Chr1:158642445..158642446 [GRCh38]
Chr1:158612235..158612236 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4408G>A (p.Glu1470Lys) |
single nucleotide variant |
not provided [RCV003138692]|not specified [RCV004246063] |
Chr1:158643356 [GRCh38]
Chr1:158613146 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1151G>C (p.Gly384Ala) |
single nucleotide variant |
not provided [RCV003138693] |
Chr1:158674637 [GRCh38]
Chr1:158644427 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7252_7258del (p.Gly2418fs) |
deletion |
not provided [RCV003138694] |
Chr1:158611266..158611272 [GRCh38]
Chr1:158581056..158581062 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.92T>C (p.Val31Ala) |
single nucleotide variant |
not provided [RCV003138695] |
Chr1:158685280 [GRCh38]
Chr1:158655070 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4757A>C (p.Lys1586Thr) |
single nucleotide variant |
not provided [RCV003138696] |
Chr1:158639988 [GRCh38]
Chr1:158609778 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1A>T (p.Met1Leu) |
single nucleotide variant |
not provided [RCV003138697] |
Chr1:158686517 [GRCh38]
Chr1:158656307 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1243C>T (p.His415Tyr) |
single nucleotide variant |
not provided [RCV003138698] |
Chr1:158674545 [GRCh38]
Chr1:158644335 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.370T>A (p.Ser124Thr) |
single nucleotide variant |
not provided [RCV003138699] |
Chr1:158683391 [GRCh38]
Chr1:158653181 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.757G>C (p.Ala253Pro) |
single nucleotide variant |
not provided [RCV003138700] |
Chr1:158678456 [GRCh38]
Chr1:158648246 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2665G>T (p.Ala889Ser) |
single nucleotide variant |
SPTA1-related disorder [RCV004554043]|not provided [RCV003138701]|not specified [RCV004673850] |
Chr1:158657617 [GRCh38]
Chr1:158627407 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.6869G>A (p.Arg2290His) |
single nucleotide variant |
not provided [RCV003138702]|not specified [RCV004673851] |
Chr1:158613841 [GRCh38]
Chr1:158583631 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.676G>A (p.Glu226Lys) |
single nucleotide variant |
SPTA1-related disorder [RCV004554044]|not provided [RCV003138703]|not specified [RCV004246064] |
Chr1:158680585 [GRCh38]
Chr1:158650375 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7250T>C (p.Phe2417Ser) |
single nucleotide variant |
not provided [RCV003138704] |
Chr1:158611274 [GRCh38]
Chr1:158581064 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1920A>G (p.Ile640Met) |
single nucleotide variant |
not provided [RCV003138705]|not specified [RCV004246065] |
Chr1:158667976 [GRCh38]
Chr1:158637766 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5989T>C (p.Ser1997Pro) |
single nucleotide variant |
not provided [RCV003138706] |
Chr1:158623114 [GRCh38]
Chr1:158592904 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1900A>G (p.Lys634Glu) |
single nucleotide variant |
not provided [RCV003138707] |
Chr1:158667996 [GRCh38]
Chr1:158637786 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3437T>C (p.Phe1146Ser) |
single nucleotide variant |
not provided [RCV003138708]|not specified [RCV004246066] |
Chr1:158651407 [GRCh38]
Chr1:158621197 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5351C>T (p.Ala1784Val) |
single nucleotide variant |
not provided [RCV003138709] |
Chr1:158635994 [GRCh38]
Chr1:158605784 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2119G>A (p.Glu707Lys) |
single nucleotide variant |
not provided [RCV003138710] |
Chr1:158666417 [GRCh38]
Chr1:158636207 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1250A>G (p.His417Arg) |
single nucleotide variant |
not provided [RCV003138711] |
Chr1:158674429 [GRCh38]
Chr1:158644219 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.-58CT[6] |
microsatellite |
not provided [RCV003138712] |
Chr1:158686558..158686563 [GRCh38]
Chr1:158656348..158656353 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1902G>A (p.Lys634=) |
single nucleotide variant |
not provided [RCV003138713] |
Chr1:158667994 [GRCh38]
Chr1:158637784 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.2443T>A (p.Ser815Thr) |
single nucleotide variant |
not provided [RCV003138714] |
Chr1:158662723 [GRCh38]
Chr1:158632513 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5803T>G (p.Trp1935Gly) |
single nucleotide variant |
not provided [RCV003138715] |
Chr1:158626869 [GRCh38]
Chr1:158596659 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.880A>G (p.Lys294Glu) |
single nucleotide variant |
not provided [RCV003138716] |
Chr1:158677767 [GRCh38]
Chr1:158647557 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2842C>T (p.Leu948Phe) |
single nucleotide variant |
not provided [RCV003138717]|not specified [RCV004673852] |
Chr1:158656620 [GRCh38]
Chr1:158626410 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1513G>C (p.Gly505Arg) |
single nucleotide variant |
not provided [RCV003138718] |
Chr1:158671429 [GRCh38]
Chr1:158641219 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1115A>G (p.Tyr372Cys) |
single nucleotide variant |
not provided [RCV003138719] |
Chr1:158674673 [GRCh38]
Chr1:158644463 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3485A>C (p.Asn1162Thr) |
single nucleotide variant |
not provided [RCV003138720] |
Chr1:158649940 [GRCh38]
Chr1:158619730 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6974C>T (p.Ala2325Val) |
single nucleotide variant |
not provided [RCV003138721] |
Chr1:158613736 [GRCh38]
Chr1:158583526 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3662T>C (p.Leu1221Pro) |
single nucleotide variant |
not provided [RCV003138722] |
Chr1:158648561 [GRCh38]
Chr1:158618351 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6272C>T (p.Ser2091Phe) |
single nucleotide variant |
not provided [RCV003138659] |
Chr1:158620315 [GRCh38]
Chr1:158590105 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6600+5G>C |
single nucleotide variant |
not provided [RCV003138664] |
Chr1:158617532 [GRCh38]
Chr1:158587322 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6341T>A (p.Val2114Glu) |
single nucleotide variant |
not provided [RCV003138665] |
Chr1:158620246 [GRCh38]
Chr1:158590036 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.954C>A (p.Asp318Glu) |
single nucleotide variant |
not provided [RCV003138666] |
Chr1:158677693 [GRCh38]
Chr1:158647483 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6842+5del |
deletion |
not provided [RCV003138673] |
Chr1:158614248 [GRCh38]
Chr1:158584038 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3352A>G (p.Lys1118Glu) |
single nucleotide variant |
not provided [RCV003138674] |
Chr1:158652490 [GRCh38]
Chr1:158622280 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.25-3C>G |
single nucleotide variant |
not provided [RCV003138678] |
Chr1:158685350 [GRCh38]
Chr1:158655140 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.725T>C (p.Val242Ala) |
single nucleotide variant |
not provided [RCV003138679] |
Chr1:158678488 [GRCh38]
Chr1:158648278 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.764A>G (p.Gln255Arg) |
single nucleotide variant |
SPTA1-related disorder [RCV004554042]|not provided [RCV003138680]|not specified [RCV004246062] |
Chr1:158678449 [GRCh38]
Chr1:158648239 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1773A>G (p.Ser591=) |
single nucleotide variant |
not provided [RCV003138682] |
Chr1:158669468 [GRCh38]
Chr1:158639258 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1723C>T (p.Arg575Cys) |
single nucleotide variant |
not provided [RCV003138683] |
Chr1:158669518 [GRCh38]
Chr1:158639308 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2146G>A (p.Gly716Arg) |
single nucleotide variant |
not provided [RCV003138690] |
Chr1:158666390 [GRCh38]
Chr1:158636180 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1168A>C (p.Thr390Pro) |
single nucleotide variant |
not provided [RCV003138658] |
Chr1:158674620 [GRCh38]
Chr1:158644410 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1267G>A (p.Asp423Asn) |
single nucleotide variant |
not provided [RCV003138723] |
Chr1:158674412 [GRCh38]
Chr1:158644202 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5285T>G (p.Leu1762Arg) |
single nucleotide variant |
not provided [RCV003138724] |
Chr1:158636666 [GRCh38]
Chr1:158606456 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3529C>A (p.Gln1177Lys) |
single nucleotide variant |
not provided [RCV003138725] |
Chr1:158649896 [GRCh38]
Chr1:158619686 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1120C>T (p.Arg374Ter) |
single nucleotide variant |
not provided [RCV003139119] |
Chr1:158674668 [GRCh38]
Chr1:158644458 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter) |
single nucleotide variant |
not provided [RCV003139121] |
Chr1:158643366 [GRCh38]
Chr1:158613156 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.580G>A (p.Glu194Lys) |
single nucleotide variant |
not specified [RCV004255642] |
Chr1:158680681 [GRCh38]
Chr1:158650471 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3193C>T (p.Arg1065Cys) |
single nucleotide variant |
not provided [RCV003227180] |
Chr1:158652649 [GRCh38]
Chr1:158622439 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5145G>T (p.Leu1715Phe) |
single nucleotide variant |
not provided [RCV004598616] |
Chr1:158638077 [GRCh38]
Chr1:158607867 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1025A>G (p.Gln342Arg) |
single nucleotide variant |
not specified [RCV004302139] |
Chr1:158676228 [GRCh38]
Chr1:158646018 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3667C>T (p.Arg1223Ter) |
single nucleotide variant |
not provided [RCV003321060] |
Chr1:158648556 [GRCh38]
Chr1:158618346 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.6221C>T (p.Ser2074Phe) |
single nucleotide variant |
Hereditary spherocytosis type 3 [RCV003337728] |
Chr1:158620366 [GRCh38]
Chr1:158590156 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4520G>C (p.Arg1507Pro) |
single nucleotide variant |
Pyropoikilocytosis, hereditary [RCV003338161] |
Chr1:158642899 [GRCh38]
Chr1:158612689 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1175C>A (p.Ala392Glu) |
single nucleotide variant |
not specified [RCV004351279] |
Chr1:158674613 [GRCh38]
Chr1:158644403 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4349T>C (p.Ile1450Thr) |
single nucleotide variant |
not specified [RCV004354756] |
Chr1:158643415 [GRCh38]
Chr1:158613205 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6167A>G (p.Asn2056Ser) |
single nucleotide variant |
not specified [RCV004365301] |
Chr1:158620420 [GRCh38]
Chr1:158590210 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4984G>T (p.Ala1662Ser) |
single nucleotide variant |
not provided [RCV003778084]|not specified [RCV004363847] |
Chr1:158638238 [GRCh38]
Chr1:158608028 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3227G>A (p.Arg1076His) |
single nucleotide variant |
not specified [RCV004350198] |
Chr1:158652615 [GRCh38]
Chr1:158622405 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1187A>T (p.Asp396Val) |
single nucleotide variant |
not specified [RCV004360352] |
Chr1:158674601 [GRCh38]
Chr1:158644391 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5979C>G (p.Asp1993Glu) |
single nucleotide variant |
not specified [RCV004348499] |
Chr1:158623124 [GRCh38]
Chr1:158592914 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5287G>C (p.Val1763Leu) |
single nucleotide variant |
not specified [RCV004359592] |
Chr1:158636664 [GRCh38]
Chr1:158606454 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5189+18A>G |
single nucleotide variant |
not provided [RCV003873060] |
Chr1:158638015 [GRCh38]
Chr1:158607805 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4377C>T (p.Ser1459=) |
single nucleotide variant |
not provided [RCV003543828] |
Chr1:158643387 [GRCh38]
Chr1:158613177 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.7180C>T (p.Gln2394Ter) |
single nucleotide variant |
not provided [RCV003543324] |
Chr1:158611344 [GRCh38]
Chr1:158581134 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3880T>C (p.Phe1294Leu) |
single nucleotide variant |
not provided [RCV003481533] |
Chr1:158647555 [GRCh38]
Chr1:158617345 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3473G>A (p.Arg1158Gln) |
single nucleotide variant |
not provided [RCV003481536] |
Chr1:158651371 [GRCh38]
Chr1:158621161 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6749T>A (p.Leu2250Ter) |
single nucleotide variant |
not provided [RCV003482061] |
Chr1:158615255 [GRCh38]
Chr1:158585045 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4871C>G (p.Ser1624Ter) |
single nucleotide variant |
not provided [RCV003489440] |
Chr1:158639874 [GRCh38]
Chr1:158609664 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.1514delinsTA (p.Gly505fs) |
indel |
not provided [RCV003489441] |
Chr1:158671428 [GRCh38]
Chr1:158641218 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.5944C>T (p.Gln1982Ter) |
single nucleotide variant |
not provided [RCV003489445] |
Chr1:158623159 [GRCh38]
Chr1:158592949 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.3664C>T (p.Gln1222Ter) |
single nucleotide variant |
not provided [RCV003482077] |
Chr1:158648559 [GRCh38]
Chr1:158618349 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.3494G>A (p.Trp1165Ter) |
single nucleotide variant |
not provided [RCV003482082] |
Chr1:158649931 [GRCh38]
Chr1:158619721 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.1921C>T (p.Gln641Ter) |
single nucleotide variant |
not provided [RCV003482084] |
Chr1:158667975 [GRCh38]
Chr1:158637765 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.6452G>T (p.Arg2151Ile) |
single nucleotide variant |
not provided [RCV003481530] |
Chr1:158619300 [GRCh38]
Chr1:158589090 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1489-12T>A |
single nucleotide variant |
not provided [RCV003481539] |
Chr1:158671465 [GRCh38]
Chr1:158641255 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7199del (p.Gly2400fs) |
deletion |
not provided [RCV003482055] |
Chr1:158611325 [GRCh38]
Chr1:158581115 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4419_4420delinsTT (p.Arg1474Trp) |
indel |
not provided [RCV003481532] |
Chr1:158643344..158643345 [GRCh38]
Chr1:158613134..158613135 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2905C>G (p.Gln969Glu) |
single nucleotide variant |
not provided [RCV003481537] |
Chr1:158654742 [GRCh38]
Chr1:158624532 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly) |
single nucleotide variant |
not provided [RCV003481541]|not specified [RCV004364833] |
Chr1:158681657 [GRCh38]
Chr1:158651447 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 |
copy number loss |
not provided [RCV003483944] |
Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3 |
likely pathogenic |
| NM_003126.4(SPTA1):c.790G>C (p.Ala264Pro) |
single nucleotide variant |
not provided [RCV003481540] |
Chr1:158678423 [GRCh38]
Chr1:158648213 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.1242G>T (p.Gln414His) |
single nucleotide variant |
SPTA1-related disorder [RCV004550718] |
Chr1:158674546 [GRCh38]
Chr1:158644336 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5040C>A (p.Asn1680Lys) |
single nucleotide variant |
not provided [RCV003481531] |
Chr1:158638182 [GRCh38]
Chr1:158607972 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3700C>T (p.Pro1234Ser) |
single nucleotide variant |
not provided [RCV003481535] |
Chr1:158648523 [GRCh38]
Chr1:158618313 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3190T>C (p.Tyr1064His) |
single nucleotide variant |
SPTA1-related disorder [RCV004552512]|not provided [RCV003481500]|not specified [RCV004673883] |
Chr1:158652652 [GRCh38]
Chr1:158622442 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.173del (p.Phe58fs) |
deletion |
not provided [RCV003482087] |
Chr1:158685199 [GRCh38]
Chr1:158654989 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.3896G>A (p.Arg1299Lys) |
single nucleotide variant |
SPTA1-related disorder [RCV004552600]|not provided [RCV003738458] |
Chr1:158647539 [GRCh38]
Chr1:158617329 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.542C>T (p.Ala181Val) |
single nucleotide variant |
SPTA1-related disorder [RCV004552488] |
Chr1:158680719 [GRCh38]
Chr1:158650509 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3730dup (p.Glu1244fs) |
duplication |
SPTA1-related disorder [RCV004550673] |
Chr1:158647704..158647705 [GRCh38]
Chr1:158617494..158617495 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.5997A>G (p.Gln1999=) |
single nucleotide variant |
not provided [RCV003409168] |
Chr1:158623106 [GRCh38]
Chr1:158592896 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5639C>T (p.Ala1880Val) |
single nucleotide variant |
not provided [RCV003409169] |
Chr1:158627650 [GRCh38]
Chr1:158597440 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4707C>T (p.Ser1569=) |
single nucleotide variant |
not provided [RCV003409170] |
Chr1:158642441 [GRCh38]
Chr1:158612231 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6989G>A (p.Arg2330Lys) |
single nucleotide variant |
SPTA1-related disorder [RCV004550581] |
Chr1:158613721 [GRCh38]
Chr1:158583511 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7139T>C (p.Leu2380Pro) |
single nucleotide variant |
SPTA1-related disorder [RCV004550764] |
Chr1:158611385 [GRCh38]
Chr1:158581175 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6061C>T (p.Leu2021=) |
single nucleotide variant |
not provided [RCV003409167] |
Chr1:158623042 [GRCh38]
Chr1:158592832 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3204G>A (p.Leu1068=) |
single nucleotide variant |
not provided [RCV003409172] |
Chr1:158652638 [GRCh38]
Chr1:158622428 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4311C>T (p.Asp1437=) |
single nucleotide variant |
not provided [RCV003409171] |
Chr1:158644280 [GRCh38]
Chr1:158614070 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2319C>A (p.Cys773Ter) |
single nucleotide variant |
SPTA1-related disorder [RCV004552578] |
Chr1:158662847 [GRCh38]
Chr1:158632637 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.6530+1G>T |
single nucleotide variant |
SPTA1-related disorder [RCV004550779] |
Chr1:158619221 [GRCh38]
Chr1:158589011 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.2216G>A (p.Arg739His) |
single nucleotide variant |
SPTA1-related disorder [RCV004552617]|not provided [RCV003491384] |
Chr1:158666320 [GRCh38]
Chr1:158636110 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.5171A>G (p.Asp1724Gly) |
single nucleotide variant |
not provided [RCV003576221] |
Chr1:158638051 [GRCh38]
Chr1:158607841 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4520G>A (p.Arg1507Gln) |
single nucleotide variant |
not provided [RCV003491537] |
Chr1:158642899 [GRCh38]
Chr1:158612689 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6710G>A (p.Gly2237Glu) |
single nucleotide variant |
not provided [RCV003491543] |
Chr1:158615294 [GRCh38]
Chr1:158585084 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1038A>T (p.Glu346Asp) |
single nucleotide variant |
not provided [RCV003491551] |
Chr1:158676215 [GRCh38]
Chr1:158646005 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2351C>G (p.Thr784Ser) |
single nucleotide variant |
not provided [RCV003491558] |
Chr1:158662815 [GRCh38]
Chr1:158632605 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5270G>T (p.Arg1757Leu) |
single nucleotide variant |
not provided [RCV003491569] |
Chr1:158636681 [GRCh38]
Chr1:158606471 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6407A>C (p.Asp2136Ala) |
single nucleotide variant |
not provided [RCV003491571] |
Chr1:158620180 [GRCh38]
Chr1:158589970 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.534G>A (p.Glu178=) |
single nucleotide variant |
not provided [RCV003491546] |
Chr1:158680727 [GRCh38]
Chr1:158650517 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2063A>G (p.Gln688Arg) |
single nucleotide variant |
not provided [RCV003491547] |
Chr1:158666473 [GRCh38]
Chr1:158636263 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4833G>T (p.Arg1611Ser) |
single nucleotide variant |
not provided [RCV003491549]|not specified [RCV004676208] |
Chr1:158639912 [GRCh38]
Chr1:158609702 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.113T>C (p.Phe38Ser) |
single nucleotide variant |
not provided [RCV003491555] |
Chr1:158685259 [GRCh38]
Chr1:158655049 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2182A>G (p.Lys728Glu) |
single nucleotide variant |
not provided [RCV003491565]|not specified [RCV004364894] |
Chr1:158666354 [GRCh38]
Chr1:158636144 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.531+1G>A |
single nucleotide variant |
not provided [RCV003491874] |
Chr1:158681526 [GRCh38]
Chr1:158651316 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.5833+1G>A |
single nucleotide variant |
not provided [RCV003489439] |
Chr1:158626838 [GRCh38]
Chr1:158596628 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.5249del (p.Asn1750fs) |
deletion |
not provided [RCV003489442] |
Chr1:158636702 [GRCh38]
Chr1:158606492 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.812+1G>A |
single nucleotide variant |
not provided [RCV003489443] |
Chr1:158678400 [GRCh38]
Chr1:158648190 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4614C>G (p.Tyr1538Ter) |
single nucleotide variant |
not provided [RCV003692455] |
Chr1:158642534 [GRCh38]
Chr1:158612324 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.5834-18A>G |
single nucleotide variant |
not provided [RCV003550117] |
Chr1:158626240 [GRCh38]
Chr1:158596030 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.2584G>T (p.Glu862Ter) |
single nucleotide variant |
not provided [RCV003494325] |
Chr1:158661290 [GRCh38]
Chr1:158631080 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.1641T>C (p.His547=) |
single nucleotide variant |
not provided [RCV003545480] |
Chr1:158669745 [GRCh38]
Chr1:158639535 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6548+19C>A |
single nucleotide variant |
not provided [RCV003881804] |
Chr1:158618020 [GRCh38]
Chr1:158587810 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5180C>T (p.Ser1727Phe) |
single nucleotide variant |
not provided [RCV003491536] |
Chr1:158638042 [GRCh38]
Chr1:158607832 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2831T>C (p.Phe944Ser) |
single nucleotide variant |
not provided [RCV003491538] |
Chr1:158656631 [GRCh38]
Chr1:158626421 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6025C>T (p.Arg2009Cys) |
single nucleotide variant |
not provided [RCV003491548] |
Chr1:158623078 [GRCh38]
Chr1:158592868 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3317C>G (p.Thr1106Ser) |
single nucleotide variant |
not provided [RCV003491554] |
Chr1:158652525 [GRCh38]
Chr1:158622315 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5297_5302dup (p.Pro1767_Ala1768insGluPro) |
duplication |
not provided [RCV003491559] |
Chr1:158636648..158636649 [GRCh38]
Chr1:158606438..158606439 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.678+7T>C |
single nucleotide variant |
not provided [RCV003491562] |
Chr1:158680576 [GRCh38]
Chr1:158650366 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.5965A>G (p.Thr1989Ala) |
single nucleotide variant |
not provided [RCV003491566] |
Chr1:158623138 [GRCh38]
Chr1:158592928 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7091T>C (p.Leu2364Pro) |
single nucleotide variant |
not provided [RCV003491568] |
Chr1:158612860 [GRCh38]
Chr1:158582650 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4768G>C (p.Asp1590His) |
single nucleotide variant |
not provided [RCV003491570] |
Chr1:158639977 [GRCh38]
Chr1:158609767 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3929G>T (p.Gly1310Val) |
single nucleotide variant |
not provided [RCV003545754] |
Chr1:158645562 [GRCh38]
Chr1:158615352 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5281G>T (p.Glu1761Ter) |
single nucleotide variant |
not provided [RCV003572713] |
Chr1:158636670 [GRCh38]
Chr1:158606460 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His) |
single nucleotide variant |
not provided [RCV003491561] |
Chr1:158620337 [GRCh38]
Chr1:158590127 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.2588-15A>G |
single nucleotide variant |
not provided [RCV003879859] |
Chr1:158657709 [GRCh38]
Chr1:158627499 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5190-20G>T |
single nucleotide variant |
not provided [RCV003575361] |
Chr1:158636781 [GRCh38]
Chr1:158606571 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.1290T>G (p.Asp430Glu) |
single nucleotide variant |
not provided [RCV003491540] |
Chr1:158674389 [GRCh38]
Chr1:158644179 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1670G>A (p.Arg557His) |
single nucleotide variant |
not provided [RCV003491550] |
Chr1:158669716 [GRCh38]
Chr1:158639506 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5310G>C (p.Gln1770His) |
single nucleotide variant |
not provided [RCV003491567] |
Chr1:158636641 [GRCh38]
Chr1:158606431 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3369C>G (p.Phe1123Leu) |
single nucleotide variant |
not provided [RCV003578095] |
Chr1:158652473 [GRCh38]
Chr1:158622263 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4del (p.Glu2fs) |
deletion |
not provided [RCV003489446] |
Chr1:158686514 [GRCh38]
Chr1:158656304 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.2053G>T (p.Glu685Ter) |
single nucleotide variant |
not provided [RCV003689656] |
Chr1:158666483 [GRCh38]
Chr1:158636273 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.3374del (p.Lys1125fs) |
deletion |
not provided [RCV003489444] |
Chr1:158652468 [GRCh38]
Chr1:158622258 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.5221T>A (p.Tyr1741Asn) |
single nucleotide variant |
not provided [RCV003660172] |
Chr1:158636730 [GRCh38]
Chr1:158606520 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4441A>G (p.Arg1481Gly) |
single nucleotide variant |
not specified [RCV003494321] |
Chr1:158643323 [GRCh38]
Chr1:158613113 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1350+4A>C |
single nucleotide variant |
not provided [RCV003550542] |
Chr1:158674325 [GRCh38]
Chr1:158644115 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.390+4T>C |
single nucleotide variant |
not provided [RCV003550543] |
Chr1:158683367 [GRCh38]
Chr1:158653157 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2038+8G>A |
single nucleotide variant |
not provided [RCV003714548] |
Chr1:158667850 [GRCh38]
Chr1:158637640 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6335T>G (p.Leu2112Ter) |
single nucleotide variant |
not provided [RCV003491873] |
Chr1:158620252 [GRCh38]
Chr1:158590042 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.2501G>A (p.Arg834Lys) |
single nucleotide variant |
not provided [RCV003491539] |
Chr1:158661373 [GRCh38]
Chr1:158631163 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2001C>A (p.Ser667Arg) |
single nucleotide variant |
not provided [RCV003491541] |
Chr1:158667895 [GRCh38]
Chr1:158637685 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7071A>G (p.Ile2357Met) |
single nucleotide variant |
not provided [RCV003491542] |
Chr1:158612880 [GRCh38]
Chr1:158582670 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7241A>G (p.Asn2414Ser) |
single nucleotide variant |
not provided [RCV003491544] |
Chr1:158611283 [GRCh38]
Chr1:158581073 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7094_7095inv (p.Ala2365Val) |
inversion |
not provided [RCV003491545] |
Chr1:158612856..158612857 [GRCh38]
Chr1:158582646..158582647 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7135-3C>T |
single nucleotide variant |
not provided [RCV003491552] |
Chr1:158611392 [GRCh38]
Chr1:158581182 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4995C>A (p.Asp1665Glu) |
single nucleotide variant |
not provided [RCV003491553] |
Chr1:158638227 [GRCh38]
Chr1:158608017 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2525T>A (p.Ile842Asn) |
single nucleotide variant |
not provided [RCV003491556] |
Chr1:158661349 [GRCh38]
Chr1:158631139 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1419G>T (p.Glu473Asp) |
single nucleotide variant |
not provided [RCV003491557] |
Chr1:158672128 [GRCh38]
Chr1:158641918 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6600+4del |
deletion |
not provided [RCV003491560] |
Chr1:158617533 [GRCh38]
Chr1:158587323 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3842G>A (p.Arg1281His) |
single nucleotide variant |
not provided [RCV003491563] |
Chr1:158647593 [GRCh38]
Chr1:158617383 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3751G>A (p.Glu1251Lys) |
single nucleotide variant |
not provided [RCV003491564] |
Chr1:158647684 [GRCh38]
Chr1:158617474 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7016A>G (p.Tyr2339Cys) |
single nucleotide variant |
not provided [RCV003491572] |
Chr1:158612935 [GRCh38]
Chr1:158582725 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5287G>A (p.Val1763Met) |
single nucleotide variant |
not provided [RCV003491573] |
Chr1:158636664 [GRCh38]
Chr1:158606454 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1055G>A (p.Trp352Ter) |
single nucleotide variant |
not provided [RCV003691495] |
Chr1:158676198 [GRCh38]
Chr1:158645988 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.136G>T (p.Gly46Cys) |
single nucleotide variant |
not provided [RCV003665831] |
Chr1:158685236 [GRCh38]
Chr1:158655026 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1488+5C>T |
single nucleotide variant |
not provided [RCV003699618] |
Chr1:158672054 [GRCh38]
Chr1:158641844 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4730C>G (p.Ala1577Gly) |
single nucleotide variant |
not provided [RCV003834869] |
Chr1:158642418 [GRCh38]
Chr1:158612208 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5041G>A (p.Val1681Ile) |
single nucleotide variant |
not provided [RCV003718047] |
Chr1:158638181 [GRCh38]
Chr1:158607971 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2506A>T (p.Arg836Ter) |
single nucleotide variant |
not provided [RCV003740628] |
Chr1:158661368 [GRCh38]
Chr1:158631158 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.5020C>T (p.Leu1674Phe) |
single nucleotide variant |
not provided [RCV003740634] |
Chr1:158638202 [GRCh38]
Chr1:158607992 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003126.4(SPTA1):c.5834C>T (p.Ala1945Val) |
single nucleotide variant |
not provided [RCV003740657] |
Chr1:158626222 [GRCh38]
Chr1:158596012 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.25-1G>C |
single nucleotide variant |
Spherocytosis [RCV003582174] |
Chr1:158685348 [GRCh38]
Chr1:158655138 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4232T>G (p.Met1411Arg) |
single nucleotide variant |
not provided [RCV003548400] |
Chr1:158644359 [GRCh38]
Chr1:158614149 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.1145T>C (p.Leu382Pro) |
single nucleotide variant |
not provided [RCV003697362] |
Chr1:158674643 [GRCh38]
Chr1:158644433 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6557T>C (p.Leu2186Pro) |
single nucleotide variant |
not provided [RCV003673592] |
Chr1:158617580 [GRCh38]
Chr1:158587370 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5389T>C (p.Phe1797Leu) |
single nucleotide variant |
not provided [RCV003814163] |
Chr1:158635956 [GRCh38]
Chr1:158605746 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2899-14C>T |
single nucleotide variant |
not provided [RCV003740524] |
Chr1:158654762 [GRCh38]
Chr1:158624552 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3375+16C>T |
single nucleotide variant |
not provided [RCV003840316] |
Chr1:158652451 [GRCh38]
Chr1:158622241 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6258G>A (p.Glu2086=) |
single nucleotide variant |
SPTA1-related disorder [RCV004554247]|not provided [RCV003548753] |
Chr1:158620329 [GRCh38]
Chr1:158590119 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_003126.4(SPTA1):c.6789-20G>T |
single nucleotide variant |
not provided [RCV003670284] |
Chr1:158614326 [GRCh38]
Chr1:158584116 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6353C>T (p.Pro2118Leu) |
single nucleotide variant |
not provided [RCV003816941] |
Chr1:158620234 [GRCh38]
Chr1:158590024 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1598T>C (p.Ile533Thr) |
single nucleotide variant |
not provided [RCV003740557]|not specified [RCV004374377] |
Chr1:158671344 [GRCh38]
Chr1:158641134 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.1479T>C (p.Ser493=) |
single nucleotide variant |
not provided [RCV003724875] |
Chr1:158672068 [GRCh38]
Chr1:158641858 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6120+10A>C |
single nucleotide variant |
not provided [RCV003814180] |
Chr1:158622973 [GRCh38]
Chr1:158592763 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.264+12C>A |
single nucleotide variant |
not provided [RCV003817064] |
Chr1:158685096 [GRCh38]
Chr1:158654886 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4076_4077del (p.Gly1359fs) |
deletion |
not provided [RCV003836984] |
Chr1:158645305..158645306 [GRCh38]
Chr1:158615095..158615096 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.4981-12G>A |
single nucleotide variant |
not provided [RCV003815073] |
Chr1:158638253 [GRCh38]
Chr1:158608043 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2134T>G (p.Ser712Ala) |
single nucleotide variant |
not provided [RCV003740556] |
Chr1:158666402 [GRCh38]
Chr1:158636192 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5226G>A (p.Gly1742=) |
single nucleotide variant |
not provided [RCV003717701] |
Chr1:158636725 [GRCh38]
Chr1:158606515 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6549-14C>T |
single nucleotide variant |
not provided [RCV003833447] |
Chr1:158617602 [GRCh38]
Chr1:158587392 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4651C>T (p.Arg1551Ter) |
single nucleotide variant |
not provided [RCV003725523] |
Chr1:158642497 [GRCh38]
Chr1:158612287 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.4603C>T (p.Gln1535Ter) |
single nucleotide variant |
not provided [RCV003709216] |
Chr1:158642816 [GRCh38]
Chr1:158612606 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.6860T>C (p.Leu2287Ser) |
single nucleotide variant |
not provided [RCV003677256] |
Chr1:158613850 [GRCh38]
Chr1:158583640 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4452T>C (p.Ala1484=) |
single nucleotide variant |
not provided [RCV003707912] |
Chr1:158642967 [GRCh38]
Chr1:158612757 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.5433-8del |
deletion |
not provided [RCV003727349] |
Chr1:158634683 [GRCh38]
Chr1:158604473 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5336T>C (p.Leu1779Pro) |
single nucleotide variant |
not provided [RCV003736223]|not specified [RCV004374372] |
Chr1:158636009 [GRCh38]
Chr1:158605799 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_003126.4(SPTA1):c.634G>A (p.Gly212Arg) |
single nucleotide variant |
not provided [RCV003853076]|not specified [RCV004366977] |
Chr1:158680627 [GRCh38]
Chr1:158650417 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.876T>C (p.Tyr292=) |
single nucleotide variant |
not provided [RCV003734303] |
Chr1:158677771 [GRCh38]
Chr1:158647561 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.3377A>G (p.Asp1126Gly) |
single nucleotide variant |
not provided [RCV003857154] |
Chr1:158651467 [GRCh38]
Chr1:158621257 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4443-9G>A |
single nucleotide variant |
not provided [RCV003568457] |
Chr1:158642985 [GRCh38]
Chr1:158612775 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6417+14C>T |
single nucleotide variant |
not provided [RCV003820714] |
Chr1:158620156 [GRCh38]
Chr1:158589946 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.379G>A (p.Glu127Lys) |
single nucleotide variant |
not provided [RCV003732642] |
Chr1:158683382 [GRCh38]
Chr1:158653172 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7089C>T (p.Ala2363=) |
single nucleotide variant |
not provided [RCV003872538] |
Chr1:158612862 [GRCh38]
Chr1:158582652 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.4309G>T (p.Asp1437Tyr) |
single nucleotide variant |
not provided [RCV003872542] |
Chr1:158644282 [GRCh38]
Chr1:158614072 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4025C>T (p.Ala1342Val) |
single nucleotide variant |
not provided [RCV003872544] |
Chr1:158645357 [GRCh38]
Chr1:158615147 [GRCh37]
Chr1:1q23.1 |
likely benign |
| GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 |
copy number gain |
not specified [RCV003986717] |
Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.5931G>T (p.Leu1977=) |
single nucleotide variant |
not provided [RCV003729723] |
Chr1:158623172 [GRCh38]
Chr1:158592962 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.2296G>A (p.Ala766Thr) |
single nucleotide variant |
not provided [RCV003562459] |
Chr1:158662870 [GRCh38]
Chr1:158632660 [GRCh37]
Chr1:1q23.1 |
benign|conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.3037-10C>T |
single nucleotide variant |
not provided [RCV003554632] |
Chr1:158653435 [GRCh38]
Chr1:158623225 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.791C>A (p.Ala264Glu) |
single nucleotide variant |
not provided [RCV003719614] |
Chr1:158678422 [GRCh38]
Chr1:158648212 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.390+9A>G |
single nucleotide variant |
not provided [RCV003736508] |
Chr1:158683362 [GRCh38]
Chr1:158653152 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5212_5213dup (p.Gln1739fs) |
duplication |
not provided [RCV003736509] |
Chr1:158636737..158636738 [GRCh38]
Chr1:158606527..158606528 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.3584C>T (p.Thr1195Met) |
single nucleotide variant |
not provided [RCV003820588] |
Chr1:158648639 [GRCh38]
Chr1:158618429 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.376C>T (p.His126Tyr) |
single nucleotide variant |
not provided [RCV003722422] |
Chr1:158683385 [GRCh38]
Chr1:158653175 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3936A>G (p.Val1312=) |
single nucleotide variant |
not provided [RCV003722529] |
Chr1:158645555 [GRCh38]
Chr1:158615345 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6331del (p.Ala2111fs) |
deletion |
Pyropoikilocytosis, hereditary [RCV003986022] |
Chr1:158620256 [GRCh38]
Chr1:158590046 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.5581del (p.His1861fs) |
deletion |
Pyropoikilocytosis, hereditary [RCV003986023] |
Chr1:158627708 [GRCh38]
Chr1:158597498 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4924G>A (p.Ala1642Thr) |
single nucleotide variant |
not provided [RCV003729698] |
Chr1:158639638 [GRCh38]
Chr1:158609428 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2464G>T (p.Gly822Ter) |
single nucleotide variant |
not provided [RCV003551904] |
Chr1:158662702 [GRCh38]
Chr1:158632492 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.2874_2875delinsAT (p.Arg959Trp) |
indel |
not provided [RCV003723025] |
Chr1:158656587..158656588 [GRCh38]
Chr1:158626377..158626378 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4877C>A (p.Ala1626Glu) |
single nucleotide variant |
not provided [RCV003863841] |
Chr1:158639685 [GRCh38]
Chr1:158609475 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6632G>A (p.Arg2211His) |
single nucleotide variant |
not provided [RCV003722232] |
Chr1:158615372 [GRCh38]
Chr1:158585162 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4676T>C (p.Ile1559Thr) |
single nucleotide variant |
not provided [RCV003728905] |
Chr1:158642472 [GRCh38]
Chr1:158612262 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3897-14del |
deletion |
not provided [RCV003677849] |
Chr1:158645608 [GRCh38]
Chr1:158615398 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4206G>T (p.Gly1402=) |
single nucleotide variant |
not provided [RCV003567189] |
Chr1:158644385 [GRCh38]
Chr1:158614175 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.1687C>T (p.Arg563Trp) |
single nucleotide variant |
not provided [RCV003675422] |
Chr1:158669554 [GRCh38]
Chr1:158639344 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.1446C>T (p.Tyr482=) |
single nucleotide variant |
not provided [RCV003848600] |
Chr1:158672101 [GRCh38]
Chr1:158641891 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.7162T>C (p.Cys2388Arg) |
single nucleotide variant |
not provided [RCV003555559] |
Chr1:158611362 [GRCh38]
Chr1:158581152 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.131A>G (p.Glu44Gly) |
single nucleotide variant |
not provided [RCV003736438] |
Chr1:158685241 [GRCh38]
Chr1:158655031 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1957T>C (p.Tyr653His) |
single nucleotide variant |
not provided [RCV003736519] |
Chr1:158667939 [GRCh38]
Chr1:158637729 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4760A>G (p.Glu1587Gly) |
single nucleotide variant |
not provided [RCV003734795] |
Chr1:158639985 [GRCh38]
Chr1:158609775 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2898+12T>A |
single nucleotide variant |
not provided [RCV003554610] |
Chr1:158656552 [GRCh38]
Chr1:158626342 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6417+5C>T |
single nucleotide variant |
not provided [RCV003846691] |
Chr1:158620165 [GRCh38]
Chr1:158589955 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7008G>A (p.Leu2336=) |
single nucleotide variant |
not provided [RCV003708211] |
Chr1:158612943 [GRCh38]
Chr1:158582733 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3663T>G (p.Leu1221=) |
single nucleotide variant |
not provided [RCV003704288] |
Chr1:158648560 [GRCh38]
Chr1:158618350 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2587+16A>G |
single nucleotide variant |
not provided [RCV003845134] |
Chr1:158661271 [GRCh38]
Chr1:158631061 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.468G>A (p.Arg156=) |
single nucleotide variant |
not provided [RCV003733329] |
Chr1:158681590 [GRCh38]
Chr1:158651380 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.3977T>G (p.Ile1326Ser) |
single nucleotide variant |
SPTA1-related disorder [RCV004554449] |
Chr1:158645514 [GRCh38]
Chr1:158615304 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1248+5A>G |
single nucleotide variant |
SPTA1-related disorder [RCV004550807] |
Chr1:158674535 [GRCh38]
Chr1:158644325 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6291del (p.Asp2098fs) |
deletion |
SPTA1-related disorder [RCV004548967] |
Chr1:158620296 [GRCh38]
Chr1:158590086 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.5310+8T>A |
single nucleotide variant |
SPTA1-related disorder [RCV004550919]|not provided [RCV005101692] |
Chr1:158636633 [GRCh38]
Chr1:158606423 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5203C>A (p.Arg1735=) |
single nucleotide variant |
SPTA1-related disorder [RCV004551035]|not provided [RCV005101778] |
Chr1:158636748 [GRCh38]
Chr1:158606538 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2286G>A (p.Lys762=) |
single nucleotide variant |
SPTA1-related disorder [RCV004548823] |
Chr1:158662880 [GRCh38]
Chr1:158632670 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.954C>T (p.Asp318=) |
single nucleotide variant |
SPTA1-related disorder [RCV004548787] |
Chr1:158677693 [GRCh38]
Chr1:158647483 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3189-4C>G |
single nucleotide variant |
SPTA1-related disorder [RCV004554493] |
Chr1:158652657 [GRCh38]
Chr1:158622447 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.1867C>T (p.Gln623Ter) |
single nucleotide variant |
not provided [RCV003887557] |
Chr1:158668029 [GRCh38]
Chr1:158637819 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.1677+1G>T |
single nucleotide variant |
SPTA1-related disorder [RCV004548958] |
Chr1:158669708 [GRCh38]
Chr1:158639498 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.6789-17_6789-16insTG |
insertion |
Elliptocytosis 2 [RCV003990903] |
Chr1:158614322..158614323 [GRCh38]
Chr1:158584112..158584113 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5961G>A (p.Glu1987=) |
single nucleotide variant |
SPTA1-related disorder [RCV004550903] |
Chr1:158623142 [GRCh38]
Chr1:158592932 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3882C>T (p.Phe1294=) |
single nucleotide variant |
SPTA1-related disorder [RCV004554543] |
Chr1:158647553 [GRCh38]
Chr1:158617343 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.7135G>A (p.Ala2379Thr) |
single nucleotide variant |
not specified [RCV004465365] |
Chr1:158611389 [GRCh38]
Chr1:158581179 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1422G>T (p.Gln474His) |
single nucleotide variant |
Elliptocytosis 2 [RCV004018056] |
Chr1:158672125 [GRCh38]
Chr1:158641915 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1451A>G (p.Asp484Gly) |
single nucleotide variant |
not specified [RCV004465336] |
Chr1:158672096 [GRCh38]
Chr1:158641886 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3526C>T (p.Arg1176Trp) |
single nucleotide variant |
not specified [RCV004465346] |
Chr1:158649899 [GRCh38]
Chr1:158619689 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6998A>G (p.Tyr2333Cys) |
single nucleotide variant |
not specified [RCV004465362] |
Chr1:158612953 [GRCh38]
Chr1:158582743 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7121A>C (p.Glu2374Ala) |
single nucleotide variant |
not specified [RCV004465363] |
Chr1:158612830 [GRCh38]
Chr1:158582620 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4658A>G (p.Glu1553Gly) |
single nucleotide variant |
not specified [RCV004465348] |
Chr1:158642490 [GRCh38]
Chr1:158612280 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5563C>A (p.Gln1855Lys) |
single nucleotide variant |
not specified [RCV004465354] |
Chr1:158634545 [GRCh38]
Chr1:158604335 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1417G>C (p.Glu473Gln) |
single nucleotide variant |
not specified [RCV004465335] |
Chr1:158672130 [GRCh38]
Chr1:158641920 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2188G>A (p.Gly730Ser) |
single nucleotide variant |
not specified [RCV004465340] |
Chr1:158666348 [GRCh38]
Chr1:158636138 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2255A>T (p.Tyr752Phe) |
single nucleotide variant |
not specified [RCV004465341] |
Chr1:158662911 [GRCh38]
Chr1:158632701 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2626A>G (p.Ser876Gly) |
single nucleotide variant |
not specified [RCV004465343] |
Chr1:158657656 [GRCh38]
Chr1:158627446 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.266G>A (p.Gly89Glu) |
single nucleotide variant |
not specified [RCV004465344] |
Chr1:158683495 [GRCh38]
Chr1:158653285 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.343A>T (p.Arg115Trp) |
single nucleotide variant |
not specified [RCV004465345] |
Chr1:158683418 [GRCh38]
Chr1:158653208 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4217A>C (p.Gln1406Pro) |
single nucleotide variant |
not specified [RCV004465347] |
Chr1:158644374 [GRCh38]
Chr1:158614164 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4907C>G (p.Ala1636Gly) |
single nucleotide variant |
not specified [RCV004465349] |
Chr1:158639655 [GRCh38]
Chr1:158609445 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.542C>A (p.Ala181Glu) |
single nucleotide variant |
not specified [RCV004465351] |
Chr1:158680719 [GRCh38]
Chr1:158650509 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.544A>T (p.Thr182Ser) |
single nucleotide variant |
not specified [RCV004465352] |
Chr1:158680717 [GRCh38]
Chr1:158650507 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5917C>G (p.Leu1973Val) |
single nucleotide variant |
not specified [RCV004465357] |
Chr1:158623186 [GRCh38]
Chr1:158592976 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7127T>G (p.Met2376Arg) |
single nucleotide variant |
not specified [RCV004465364] |
Chr1:158612824 [GRCh38]
Chr1:158582614 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6817C>A (p.Leu2273Ile) |
single nucleotide variant |
not specified [RCV004465361] |
Chr1:158614278 [GRCh38]
Chr1:158584068 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1402C>T (p.Arg468Cys) |
single nucleotide variant |
not specified [RCV004465334] |
Chr1:158672145 [GRCh38]
Chr1:158641935 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1804A>C (p.Lys602Gln) |
single nucleotide variant |
not specified [RCV004465338] |
Chr1:158669437 [GRCh38]
Chr1:158639227 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3 |
copy number gain |
not provided [RCV004577444] |
Chr1:155709113..159191078 [GRCh37]
Chr1:1q22-23.2 |
likely pathogenic |
| NM_003126.4(SPTA1):c.5852T>G (p.Leu1951Arg) |
single nucleotide variant |
not specified [RCV004465356] |
Chr1:158626204 [GRCh38]
Chr1:158595994 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1455T>A (p.Ser485Arg) |
single nucleotide variant |
not specified [RCV004465337] |
Chr1:158672092 [GRCh38]
Chr1:158641882 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5549C>T (p.Thr1850Ile) |
single nucleotide variant |
not specified [RCV004465353] |
Chr1:158634559 [GRCh38]
Chr1:158604349 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6161C>T (p.Ala2054Val) |
single nucleotide variant |
not specified [RCV004465359] |
Chr1:158620426 [GRCh38]
Chr1:158590216 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6609G>T (p.Gln2203His) |
single nucleotide variant |
not specified [RCV004465360] |
Chr1:158615395 [GRCh38]
Chr1:158585185 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1903A>G (p.Thr635Ala) |
single nucleotide variant |
not provided [RCV005065118]|not specified [RCV004465339] |
Chr1:158667993 [GRCh38]
Chr1:158637783 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5206G>A (p.Val1736Met) |
single nucleotide variant |
not specified [RCV004465350] |
Chr1:158636745 [GRCh38]
Chr1:158606535 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5786C>A (p.Ala1929Asp) |
single nucleotide variant |
not specified [RCV004465355] |
Chr1:158626886 [GRCh38]
Chr1:158596676 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6073G>A (p.Ala2025Thr) |
single nucleotide variant |
not specified [RCV004465358] |
Chr1:158623030 [GRCh38]
Chr1:158592820 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6658G>C (p.Gly2220Arg) |
single nucleotide variant |
not specified [RCV004595951] |
Chr1:158615346 [GRCh38]
Chr1:158585136 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3792_3793dup (p.Met1265fs) |
duplication |
not provided [RCV004595957] |
Chr1:158647641..158647642 [GRCh38]
Chr1:158617431..158617432 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.259A>G (p.Ile87Val) |
single nucleotide variant |
not specified [RCV004675183] |
Chr1:158685113 [GRCh38]
Chr1:158654903 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.10:g.(?_158581054)_(158819027_?)del |
deletion |
not provided [RCV004579114] |
Chr1:158581054..158819027 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.440C>A (p.Thr147Asn) |
single nucleotide variant |
not specified [RCV004675184] |
Chr1:158681618 [GRCh38]
Chr1:158651408 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.541G>A (p.Ala181Thr) |
single nucleotide variant |
not specified [RCV004675185] |
Chr1:158680720 [GRCh38]
Chr1:158650510 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3384T>G (p.Asn1128Lys) |
single nucleotide variant |
not specified [RCV004675186] |
Chr1:158651460 [GRCh38]
Chr1:158621250 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5645_5647del (p.Gly1882del) |
deletion |
not provided [RCV004575160] |
Chr1:158627642..158627644 [GRCh38]
Chr1:158597432..158597434 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2176C>G (p.Leu726Val) |
single nucleotide variant |
not specified [RCV004679412] |
Chr1:158666360 [GRCh38]
Chr1:158636150 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.524G>A (p.Gly175Glu) |
single nucleotide variant |
SPTA1-related disorder [RCV004737712] |
Chr1:158681534 [GRCh38]
Chr1:158651324 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1022_1037del (p.Ile341fs) |
deletion |
not provided [RCV004792205] |
Chr1:158676216..158676231 [GRCh38]
Chr1:158646006..158646021 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.403G>T (p.Glu135Ter) |
single nucleotide variant |
not provided [RCV004792209] |
Chr1:158681655 [GRCh38]
Chr1:158651445 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.7163G>A (p.Cys2388Tyr) |
single nucleotide variant |
not provided [RCV004793281] |
Chr1:158611361 [GRCh38]
Chr1:158581151 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6825A>T (p.Glu2275Asp) |
single nucleotide variant |
not provided [RCV004793286] |
Chr1:158614270 [GRCh38]
Chr1:158584060 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5433-16T>A |
single nucleotide variant |
not provided [RCV004793298] |
Chr1:158634691 [GRCh38]
Chr1:158604481 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5377C>T (p.Arg1793Trp) |
single nucleotide variant |
not provided [RCV004793303] |
Chr1:158635968 [GRCh38]
Chr1:158605758 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5204G>A (p.Arg1735Gln) |
single nucleotide variant |
not provided [RCV004793309] |
Chr1:158636747 [GRCh38]
Chr1:158606537 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5009C>G (p.Ala1670Gly) |
single nucleotide variant |
not provided [RCV004793310] |
Chr1:158638213 [GRCh38]
Chr1:158608003 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4628C>A (p.Thr1543Asn) |
single nucleotide variant |
not provided [RCV004793320] |
Chr1:158642520 [GRCh38]
Chr1:158612310 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4478G>A (p.Arg1493Gln) |
single nucleotide variant |
not provided [RCV004793326] |
Chr1:158642941 [GRCh38]
Chr1:158612731 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4307G>T (p.Arg1436Leu) |
single nucleotide variant |
not provided [RCV004793826] |
Chr1:158644284 [GRCh38]
Chr1:158614074 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4195-1G>A |
single nucleotide variant |
not provided [RCV004793829] |
Chr1:158644397 [GRCh38]
Chr1:158614187 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3728G>A (p.Gly1243Glu) |
single nucleotide variant |
not provided [RCV004793841] |
Chr1:158647707 [GRCh38]
Chr1:158617497 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2128G>T (p.Val710Phe) |
single nucleotide variant |
not provided [RCV004793848] |
Chr1:158666408 [GRCh38]
Chr1:158636198 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1134_1139del (p.Phe379_Asp380del) |
deletion |
not provided [RCV004793863] |
Chr1:158674649..158674654 [GRCh38]
Chr1:158644439..158644444 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1070C>T (p.Ala357Val) |
single nucleotide variant |
not provided [RCV004793867] |
Chr1:158676183 [GRCh38]
Chr1:158645973 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.398T>A (p.Ile133Lys) |
single nucleotide variant |
not provided [RCV004793881] |
Chr1:158681660 [GRCh38]
Chr1:158651450 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1del (p.Met1fs) |
deletion |
not provided [RCV004793888] |
Chr1:158686517 [GRCh38]
Chr1:158656307 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3406G>T (p.Asp1136Tyr) |
single nucleotide variant |
not provided [RCV004760858] |
|
uncertain significance |
| NM_003126.4(SPTA1):c.6223C>A (p.Leu2075Met) |
single nucleotide variant |
not provided [RCV004722645] |
Chr1:158620364 [GRCh38]
Chr1:158590154 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1593G>C (p.Lys531Asn) |
single nucleotide variant |
not provided [RCV004762573] |
|
uncertain significance |
| NM_003126.4(SPTA1):c.4420C>T (p.Arg1474Trp) |
single nucleotide variant |
not provided [RCV004727601] |
Chr1:158643344 [GRCh38]
Chr1:158613134 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6107T>A (p.Leu2036Gln) |
single nucleotide variant |
not provided [RCV004763074] |
|
uncertain significance |
| NM_003126.4(SPTA1):c.1643A>G (p.Tyr548Cys) |
single nucleotide variant |
not provided [RCV004767914] |
Chr1:158669743 [GRCh38]
Chr1:158639533 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1834-7A>C |
single nucleotide variant |
SPTA1-related disorder [RCV004736823] |
Chr1:158668069 [GRCh38]
Chr1:158637859 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2858A>G (p.Asp953Gly) |
single nucleotide variant |
not specified [RCV004857326] |
Chr1:158656604 [GRCh38]
Chr1:158626394 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.134G>A (p.Arg45Lys) |
single nucleotide variant |
not specified [RCV004857327] |
Chr1:158685238 [GRCh38]
Chr1:158655028 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6549-5A>G |
single nucleotide variant |
not provided [RCV004823801] |
Chr1:158617593 [GRCh38]
Chr1:158587383 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2380C>T (p.His794Tyr) |
single nucleotide variant |
not specified [RCV004857329] |
Chr1:158662786 [GRCh38]
Chr1:158632576 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2321G>T (p.Arg774Leu) |
single nucleotide variant |
not specified [RCV004857334] |
Chr1:158662845 [GRCh38]
Chr1:158632635 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1013C>T (p.Ala338Val) |
single nucleotide variant |
not specified [RCV004857330] |
Chr1:158676240 [GRCh38]
Chr1:158646030 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1943T>C (p.Ile648Thr) |
single nucleotide variant |
not specified [RCV004857332] |
Chr1:158667953 [GRCh38]
Chr1:158637743 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4894A>G (p.Met1632Val) |
single nucleotide variant |
Elliptocytosis 2 [RCV004821045] |
Chr1:158639668 [GRCh38]
Chr1:158609458 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.776C>T (p.Ala259Val) |
single nucleotide variant |
not specified [RCV004857324] |
Chr1:158678437 [GRCh38]
Chr1:158648227 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2413G>A (p.Glu805Lys) |
single nucleotide variant |
not specified [RCV004857325] |
Chr1:158662753 [GRCh38]
Chr1:158632543 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1403G>A (p.Arg468His) |
single nucleotide variant |
not specified [RCV004857328] |
Chr1:158672144 [GRCh38]
Chr1:158641934 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1718C>T (p.Thr573Ile) |
single nucleotide variant |
not specified [RCV004857331] |
Chr1:158669523 [GRCh38]
Chr1:158639313 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7186A>G (p.Met2396Val) |
single nucleotide variant |
not specified [RCV004857333] |
Chr1:158611338 [GRCh38]
Chr1:158581128 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6627G>A (p.Met2209Ile) |
single nucleotide variant |
Elliptocytosis 2 [RCV005044243] |
Chr1:158615377 [GRCh38]
Chr1:158585167 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6968T>A (p.Leu2323Gln) |
single nucleotide variant |
Elliptocytosis 2 [RCV005044240] |
Chr1:158613742 [GRCh38]
Chr1:158583532 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3997-5C>A |
single nucleotide variant |
not provided [RCV005196558] |
Chr1:158645390 [GRCh38]
Chr1:158615180 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.230C>T (p.Thr77Ile) |
single nucleotide variant |
not provided [RCV005085149] |
Chr1:158685142 [GRCh38]
Chr1:158654932 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6022G>A (p.Glu2008Lys) |
single nucleotide variant |
not provided [RCV005067945] |
Chr1:158623081 [GRCh38]
Chr1:158592871 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7135-16T>C |
single nucleotide variant |
not provided [RCV005060408] |
Chr1:158611405 [GRCh38]
Chr1:158581195 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3569+7A>C |
single nucleotide variant |
not provided [RCV005176033] |
Chr1:158649849 [GRCh38]
Chr1:158619639 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6987G>A (p.Gly2329=) |
single nucleotide variant |
not provided [RCV005067337] |
Chr1:158613723 [GRCh38]
Chr1:158583513 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6843-18dup |
duplication |
not provided [RCV005087324] |
Chr1:158613884..158613885 [GRCh38]
Chr1:158583674..158583675 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6120+2T>C |
single nucleotide variant |
not provided [RCV005060203] |
Chr1:158622981 [GRCh38]
Chr1:158592771 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.231C>T (p.Thr77=) |
single nucleotide variant |
not provided [RCV005065493] |
Chr1:158685141 [GRCh38]
Chr1:158654931 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.6173G>A (p.Trp2058Ter) |
single nucleotide variant |
not provided [RCV005145046] |
Chr1:158620414 [GRCh38]
Chr1:158590204 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.4515C>A (p.Phe1505Leu) |
single nucleotide variant |
not specified [RCV004873227] |
Chr1:158642904 [GRCh38]
Chr1:158612694 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6680T>C (p.Leu2227Pro) |
single nucleotide variant |
not specified [RCV004873228] |
Chr1:158615324 [GRCh38]
Chr1:158585114 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7216G>A (p.Gly2406Ser) |
single nucleotide variant |
not specified [RCV004873238] |
Chr1:158611308 [GRCh38]
Chr1:158581098 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3725T>C (p.Leu1242Pro) |
single nucleotide variant |
not specified [RCV004873241] |
Chr1:158647710 [GRCh38]
Chr1:158617500 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5533G>A (p.Gly1845Arg) |
single nucleotide variant |
not provided [RCV005171707] |
Chr1:158634575 [GRCh38]
Chr1:158604365 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3614C>T (p.Ala1205Val) |
single nucleotide variant |
not provided [RCV005172895] |
Chr1:158648609 [GRCh38]
Chr1:158618399 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6514T>C (p.Trp2172Arg) |
single nucleotide variant |
not provided [RCV005065315] |
Chr1:158619238 [GRCh38]
Chr1:158589028 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3188+14C>T |
single nucleotide variant |
not provided [RCV005172334] |
Chr1:158653260 [GRCh38]
Chr1:158623050 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5311-16C>T |
single nucleotide variant |
not provided [RCV005060472] |
Chr1:158636050 [GRCh38]
Chr1:158605840 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.1255A>T (p.Ile419Phe) |
single nucleotide variant |
not provided [RCV005065305] |
Chr1:158674424 [GRCh38]
Chr1:158644214 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6789-17_6789-16insC |
insertion |
not provided [RCV005088236] |
Chr1:158614322..158614323 [GRCh38]
Chr1:158584112..158584113 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5391T>G (p.Phe1797Leu) |
single nucleotide variant |
not specified [RCV004873242] |
Chr1:158635954 [GRCh38]
Chr1:158605744 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1496T>G (p.Leu499Arg) |
single nucleotide variant |
not specified [RCV004873243] |
Chr1:158671446 [GRCh38]
Chr1:158641236 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5432+5G>A |
single nucleotide variant |
not provided [RCV005172331] |
Chr1:158635908 [GRCh38]
Chr1:158605698 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.619C>T (p.Leu207=) |
single nucleotide variant |
not provided [RCV005146780] |
Chr1:158680642 [GRCh38]
Chr1:158650432 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3932T>C (p.Met1311Thr) |
single nucleotide variant |
not provided [RCV005078409] |
Chr1:158645559 [GRCh38]
Chr1:158615349 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity |
| NM_003126.4(SPTA1):c.24C>T (p.Thr8=) |
single nucleotide variant |
not provided [RCV005063938] |
Chr1:158686494 [GRCh38]
Chr1:158656284 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.148G>A (p.Glu50Lys) |
single nucleotide variant |
not specified [RCV004873229] |
Chr1:158685224 [GRCh38]
Chr1:158655014 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7144C>T (p.Pro2382Ser) |
single nucleotide variant |
not specified [RCV004873230] |
Chr1:158611380 [GRCh38]
Chr1:158581170 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7094C>T (p.Ala2365Val) |
single nucleotide variant |
not specified [RCV004873231] |
Chr1:158612857 [GRCh38]
Chr1:158582647 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2197G>A (p.Glu733Lys) |
single nucleotide variant |
not specified [RCV004873232] |
Chr1:158666339 [GRCh38]
Chr1:158636129 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3226C>T (p.Arg1076Cys) |
single nucleotide variant |
not specified [RCV004873233] |
Chr1:158652616 [GRCh38]
Chr1:158622406 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5732C>T (p.Pro1911Leu) |
single nucleotide variant |
not specified [RCV004873234] |
Chr1:158626940 [GRCh38]
Chr1:158596730 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1747C>A (p.Leu583Ile) |
single nucleotide variant |
not specified [RCV004873235] |
Chr1:158669494 [GRCh38]
Chr1:158639284 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6000C>A (p.His2000Gln) |
single nucleotide variant |
not specified [RCV004873236] |
Chr1:158623103 [GRCh38]
Chr1:158592893 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.324G>A (p.Met108Ile) |
single nucleotide variant |
not specified [RCV004873237] |
Chr1:158683437 [GRCh38]
Chr1:158653227 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2338G>C (p.Glu780Gln) |
single nucleotide variant |
not specified [RCV004873239] |
Chr1:158662828 [GRCh38]
Chr1:158632618 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2053G>A (p.Glu685Lys) |
single nucleotide variant |
not specified [RCV004873240] |
Chr1:158666483 [GRCh38]
Chr1:158636273 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4980+1G>A |
single nucleotide variant |
not provided [RCV005199754] |
Chr1:158639581 [GRCh38]
Chr1:158609371 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.4426C>T (p.Gln1476Ter) |
single nucleotide variant |
not provided [RCV005202053] |
Chr1:158643338 [GRCh38]
Chr1:158613128 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.1833G>T (p.Lys611Asn) |
single nucleotide variant |
not provided [RCV005069813] |
Chr1:158669408 [GRCh38]
Chr1:158639198 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2209G>A (p.Ala737Thr) |
single nucleotide variant |
not provided [RCV005188082] |
Chr1:158666327 [GRCh38]
Chr1:158636117 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5814del (p.Asp1938fs) |
deletion |
not provided [RCV005199933] |
Chr1:158626858 [GRCh38]
Chr1:158596648 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.2587+12T>G |
single nucleotide variant |
not provided [RCV005079618] |
Chr1:158661275 [GRCh38]
Chr1:158631065 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4849C>T (p.Arg1617Trp) |
single nucleotide variant |
not provided [RCV005160314] |
Chr1:158639896 [GRCh38]
Chr1:158609686 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2180G>A (p.Arg727Lys) |
single nucleotide variant |
not provided [RCV005202459] |
Chr1:158666356 [GRCh38]
Chr1:158636146 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4913A>T (p.Asp1638Val) |
single nucleotide variant |
not provided [RCV005158748] |
Chr1:158639649 [GRCh38]
Chr1:158609439 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.7134+5G>A |
single nucleotide variant |
not provided [RCV005192295] |
Chr1:158612812 [GRCh38]
Chr1:158582602 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4976G>T (p.Arg1659Leu) |
single nucleotide variant |
not provided [RCV005126360] |
Chr1:158639586 [GRCh38]
Chr1:158609376 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.114C>G (p.Phe38Leu) |
single nucleotide variant |
not provided [RCV005077434] |
Chr1:158685258 [GRCh38]
Chr1:158655048 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.183T>G (p.Asp61Glu) |
single nucleotide variant |
not provided [RCV005189557] |
Chr1:158685189 [GRCh38]
Chr1:158654979 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5493G>A (p.Glu1831=) |
single nucleotide variant |
not provided [RCV005190992] |
Chr1:158634615 [GRCh38]
Chr1:158604405 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5193G>A (p.Glu1731=) |
single nucleotide variant |
not provided [RCV005177933] |
Chr1:158636758 [GRCh38]
Chr1:158606548 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4110del (p.Gln1371fs) |
deletion |
not provided [RCV005070380] |
Chr1:158645272 [GRCh38]
Chr1:158615062 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.1037A>G (p.Glu346Gly) |
single nucleotide variant |
not provided [RCV005199935] |
Chr1:158676216 [GRCh38]
Chr1:158646006 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.6092dup (p.Leu2031fs) |
duplication |
not provided [RCV005143620] |
Chr1:158623010..158623011 [GRCh38]
Chr1:158592800..158592801 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.1846T>C (p.Leu616=) |
single nucleotide variant |
not provided [RCV005141760] |
Chr1:158668050 [GRCh38]
Chr1:158637840 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.424C>G (p.Leu142Val) |
single nucleotide variant |
not provided [RCV005080103] |
Chr1:158681634 [GRCh38]
Chr1:158651424 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4018G>C (p.Ala1340Pro) |
single nucleotide variant |
not provided [RCV005144212] |
Chr1:158645364 [GRCh38]
Chr1:158615154 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.3978C>A (p.Ile1326=) |
single nucleotide variant |
not provided [RCV005169019] |
Chr1:158645513 [GRCh38]
Chr1:158615303 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4764T>C (p.His1588=) |
single nucleotide variant |
not provided [RCV005192187] |
Chr1:158639981 [GRCh38]
Chr1:158609771 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.1637A>G (p.Asp546Gly) |
single nucleotide variant |
not provided [RCV005166796] |
Chr1:158669749 [GRCh38]
Chr1:158639539 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4583A>T (p.Tyr1528Phe) |
single nucleotide variant |
not provided [RCV005188333] |
Chr1:158642836 [GRCh38]
Chr1:158612626 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2903A>C (p.Gln968Pro) |
single nucleotide variant |
not provided [RCV005202460] |
Chr1:158654744 [GRCh38]
Chr1:158624534 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5119G>A (p.Glu1707Lys) |
single nucleotide variant |
not provided [RCV005186592] |
Chr1:158638103 [GRCh38]
Chr1:158607893 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.3694C>A (p.Leu1232Ile) |
single nucleotide variant |
not provided [RCV005072869] |
Chr1:158648529 [GRCh38]
Chr1:158618319 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2068C>G (p.Leu690Val) |
single nucleotide variant |
not provided [RCV005139774] |
Chr1:158666468 [GRCh38]
Chr1:158636258 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2340G>A (p.Glu780=) |
single nucleotide variant |
not provided [RCV005192228] |
Chr1:158662826 [GRCh38]
Chr1:158632616 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_003126.4(SPTA1):c.4969T>G (p.Leu1657Val) |
single nucleotide variant |
not provided [RCV005126361] |
Chr1:158639593 [GRCh38]
Chr1:158609383 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.4869C>G (p.Leu1623=) |
single nucleotide variant |
not provided [RCV005190357] |
Chr1:158639876 [GRCh38]
Chr1:158609666 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.2215C>T (p.Arg739Cys) |
single nucleotide variant |
not provided [RCV005192570] |
Chr1:158666321 [GRCh38]
Chr1:158636111 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.812+1G>T |
single nucleotide variant |
not provided [RCV005133769] |
Chr1:158678400 [GRCh38]
Chr1:158648190 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_003126.4(SPTA1):c.561T>C (p.Gly187=) |
single nucleotide variant |
not provided [RCV005068812] |
Chr1:158680700 [GRCh38]
Chr1:158650490 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5833+10G>A |
single nucleotide variant |
not provided [RCV005151572] |
Chr1:158626829 [GRCh38]
Chr1:158596619 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4980+7A>T |
single nucleotide variant |
not provided [RCV005185193] |
Chr1:158639575 [GRCh38]
Chr1:158609365 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.6964T>C (p.Phe2322Leu) |
single nucleotide variant |
not provided [RCV005073310] |
Chr1:158613746 [GRCh38]
Chr1:158583536 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.5833+10G>C |
single nucleotide variant |
not provided [RCV005108966] |
Chr1:158626829 [GRCh38]
Chr1:158596619 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5203C>T (p.Arg1735Ter) |
single nucleotide variant |
not provided [RCV005199934] |
Chr1:158636748 [GRCh38]
Chr1:158606538 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.1834-19T>A |
single nucleotide variant |
not provided [RCV005069605] |
Chr1:158668081 [GRCh38]
Chr1:158637871 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4741C>A (p.Gln1581Lys) |
single nucleotide variant |
not provided [RCV005155332] |
Chr1:158640004 [GRCh38]
Chr1:158609794 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1468A>C (p.Ser490Arg) |
single nucleotide variant |
not provided [RCV005179449] |
Chr1:158672079 [GRCh38]
Chr1:158641869 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4671C>T (p.Gly1557=) |
single nucleotide variant |
not provided [RCV005069696] |
Chr1:158642477 [GRCh38]
Chr1:158612267 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5202A>G (p.Ile1734Met) |
single nucleotide variant |
not provided [RCV005128001] |
Chr1:158636749 [GRCh38]
Chr1:158606539 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.1622A>G (p.Lys541Arg) |
single nucleotide variant |
not provided [RCV005110718] |
Chr1:158669764 [GRCh38]
Chr1:158639554 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.2344C>T (p.Leu782=) |
single nucleotide variant |
not provided [RCV005068474] |
Chr1:158662822 [GRCh38]
Chr1:158632612 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.4206dup (p.Asn1403fs) |
duplication |
not provided [RCV005199508] |
Chr1:158644384..158644385 [GRCh38]
Chr1:158614174..158614175 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_003126.4(SPTA1):c.6600+19T>G |
single nucleotide variant |
not provided [RCV005178774] |
Chr1:158617518 [GRCh38]
Chr1:158587308 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003126.4(SPTA1):c.5019G>C (p.Leu1673Phe) |
single nucleotide variant |
Elliptocytosis 2 [RCV003337975] |
Chr1:158638203 [GRCh38]
Chr1:158607993 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_003126.4(SPTA1):c.802C>T (p.Arg268Ter) |
single nucleotide variant |
not provided [RCV003131594] |
Chr1:158678411 [GRCh38]
Chr1:158648201 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_003126.4(SPTA1):c.7135-1G>T |
single nucleotide variant |
not provided [RCV003131614] |
Chr1:158611390 [GRCh38]
Chr1:158581180 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
