NM_001142446.2(ANK1):c.127-39509T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000988052]|Spherocytosis, type 1, autosomal recessive [RCV000000536]|not provided [RCV003482222]|not specified [RCV001777127] |
Chr8:41797646 [GRCh38] Chr8:41655164 [GRCh37] Chr8:8p11.21 |
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.-73_-72del |
deletion |
Spherocytosis, type 1, autosomal recessive [RCV000000537] |
Chr8:41797610..41797611 [GRCh38] Chr8:41655128..41655129 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_001142446.2(ANK1):c.127-39554G>A |
single nucleotide variant |
Spherocytosis, type 1, autosomal recessive [RCV000000541]|not provided [RCV003430625] |
Chr8:41797691 [GRCh38] Chr8:41655209 [GRCh37] Chr8:8p11.21 |
pathogenic|benign|conflicting interpretations of pathogenicity |
NM_000037.4(ANK1):c.1801-17G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000655898]|Spherocytosis, type 1, autosomal recessive [RCV000000542]|not provided [RCV001091597] |
Chr8:41708992 [GRCh38] Chr8:41566510 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.520_539del (p.Leu174fs) |
deletion |
Spherocytosis, type 1, autosomal recessive [RCV000000543] |
Chr8:41725834..41725853 [GRCh38] Chr8:41583352..41583371 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.612+2_612+6del |
deletion |
not provided [RCV001291602] |
Chr8:41725755..41725759 [GRCh38] Chr8:41583273..41583277 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1702-2A>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000655897] |
Chr8:41714256 [GRCh38] Chr8:41571774 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000655899]|not provided [RCV002275141] |
Chr8:41684619 [GRCh38] Chr8:41542137 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1998G>T (p.Lys666Asn) |
single nucleotide variant |
not provided [RCV001508238] |
Chr8:41708778 [GRCh38] Chr8:41566296 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1412del (p.Gln471fs) |
deletion |
not provided [RCV001508241] |
Chr8:41715842 [GRCh38] Chr8:41573360 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1196C>T (p.Ala399Val) |
single nucleotide variant |
not provided [RCV001508243] |
Chr8:41718116 [GRCh38] Chr8:41575634 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.328-17C>T |
single nucleotide variant |
not provided [RCV001508249] |
Chr8:41727365 [GRCh38] Chr8:41584883 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.224C>T (p.Thr75Ile) |
single nucleotide variant |
not provided [RCV001508250] |
Chr8:41733975 [GRCh38] Chr8:41591493 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000000535] |
Chr8:41672445 [GRCh38] Chr8:41529963 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000000538] |
Chr8:41668498 [GRCh38] Chr8:41526016 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) |
single nucleotide variant |
ANK1-related disorder [RCV003398399]|Hereditary spherocytosis type 1 [RCV000000539]|not provided [RCV001508610] |
Chr8:41661923 [GRCh38] Chr8:41519441 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) |
duplication |
ANK1-related disorder [RCV003415605]|Hereditary spherocytosis type 1 [RCV000000540] |
Chr8:41715734..41715735 [GRCh38] Chr8:41573252..41573253 [GRCh37] Chr8:8p11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 |
copy number gain |
See cases [RCV000050294] |
Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 |
copy number gain |
See cases [RCV000050995] |
Chr8:29719897..48521849 [GRCh38] Chr8:29577413..49434409 [GRCh37] Chr8:29633332..49596962 [NCBI36] Chr8:8p12-q11.21 |
pathogenic |
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 |
copy number gain |
See cases [RCV000050904] |
Chr8:25832130..48521849 [GRCh38] Chr8:25689646..49434409 [GRCh37] Chr8:25745563..49596962 [NCBI36] Chr8:8p21.2-q11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 |
copy number gain |
See cases [RCV000050912] |
Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 |
copy number loss |
See cases [RCV000050745] |
Chr8:34312250..43158901 [GRCh38] Chr8:34169768..43014044 [GRCh37] Chr8:34289310..43133201 [NCBI36] Chr8:8p12-11.21 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 |
copy number gain |
See cases [RCV000051110] |
Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 |
copy number gain |
See cases [RCV000053630] |
Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] |
Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 |
copy number gain |
See cases [RCV000053632] |
Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 |
copy number gain |
See cases [RCV000053635] |
Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21 |
pathogenic |
GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3 |
copy number gain |
See cases [RCV000053648] |
Chr8:37899430..42371734 [GRCh38] Chr8:37756948..42229252 [GRCh37] Chr8:37876106..42348409 [NCBI36] Chr8:8p11.23-11.21 |
pathogenic |
GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 |
copy number gain |
See cases [RCV000053649] |
Chr8:39830633..49209461 [GRCh38] Chr8:39688152..50122020 [GRCh37] Chr8:39807309..50284573 [NCBI36] Chr8:8p11.22-q11.21 |
pathogenic |
GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3 |
copy number gain |
See cases [RCV000053650] |
Chr8:39981424..43532444 [GRCh38] Chr8:39838943..43387587 [GRCh37] Chr8:39958100..43506744 [NCBI36] Chr8:8p11.21-11.1 |
pathogenic |
GRCh38/hg38 8p11.21-q11.21(chr8:41547961-48178799)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|See cases [RCV000053651] |
Chr8:41547961..48178799 [GRCh38] Chr8:41405480..49091359 [GRCh37] Chr8:41524637..49253912 [NCBI36] Chr8:8p11.21-q11.21 |
pathogenic |
GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3 |
copy number gain |
See cases [RCV000053652] |
Chr8:41845699..47893948 [GRCh38] Chr8:41703217..48806508 [GRCh37] Chr8:41822374..48969061 [NCBI36] Chr8:8p11.21-q11.21 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p11.21(chr8:41690724-41867446)x1 |
copy number loss |
See cases [RCV000054239] |
Chr8:41690724..41867446 [GRCh38] Chr8:41548242..41724964 [GRCh37] Chr8:41667399..41844121 [NCBI36] Chr8:8p11.21 |
pathogenic |
NM_001142446.1(ANK1):c.5255C>T (p.Ser1752Leu) |
single nucleotide variant |
Malignant melanoma [RCV000068313] |
Chr8:41668529 [GRCh38] Chr8:41526047 [GRCh37] Chr8:41645204 [NCBI36] Chr8:8p11.21 |
not provided |
NM_001142446.1(ANK1):c.4775C>T (p.Pro1592Leu) |
single nucleotide variant |
Malignant melanoma [RCV000068314] |
Chr8:41672798 [GRCh38] Chr8:41530316 [GRCh37] Chr8:41649473 [NCBI36] Chr8:8p11.21 |
not provided |
NM_001142446.1(ANK1):c.4324G>A (p.Glu1442Lys) |
single nucleotide variant |
Malignant melanoma [RCV000068315] |
Chr8:41688213 [GRCh38] Chr8:41545731 [GRCh37] Chr8:41664888 [NCBI36] Chr8:8p11.21 |
not provided |
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802337]|not provided [RCV002541361] |
Chr8:41694740 [GRCh38] Chr8:41552258 [GRCh37] Chr8:41671415 [NCBI36] Chr8:8p11.21 |
uncertain significance|not provided |
NM_000037.4(ANK1):c.3984+2T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001286718]|not provided [RCV002537948] |
Chr8:41690472 [GRCh38] Chr8:41547990 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.1066G>A (p.Val356Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001332122]|Inborn genetic diseases [RCV003346479] |
Chr8:41719702 [GRCh38] Chr8:41577220 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3601G>A (p.Ala1201Thr) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001286123] |
Chr8:41693133 [GRCh38] Chr8:41550651 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2899G>A (p.Glu967Lys) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001285219] |
Chr8:41696424 [GRCh38] Chr8:41553942 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.607dup (p.Ser203fs) |
duplication |
not provided [RCV001291603] |
Chr8:41725765..41725766 [GRCh38] Chr8:41583283..41583284 [GRCh37] Chr8:8p11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 |
copy number gain |
See cases [RCV000135786] |
Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 |
copy number gain |
See cases [RCV000135566] |
Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 |
copy number gain |
See cases [RCV000137249] |
Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 |
copy number gain |
See cases [RCV000139796] |
Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 |
copy number gain |
See cases [RCV000139582] |
Chr8:36580103..59618998 [GRCh38] Chr8:36437621..60531557 [GRCh37] Chr8:36556779..60694111 [NCBI36] Chr8:8p12-q12.1 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 |
copy number gain |
See cases [RCV000142021] |
Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3 |
copy number gain |
See cases [RCV000142663] |
Chr8:39960531..43673207 [GRCh38] Chr8:39818050..43528350 [GRCh37] Chr8:39937207..43647507 [NCBI36] Chr8:8p11.21-11.1 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 |
copy number gain |
See cases [RCV000148237] |
Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 |
copy number gain |
See cases [RCV000148249] |
Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs) |
microsatellite |
Hereditary spherocytosis type 1 [RCV003133585]|not provided [RCV000755811] |
Chr8:41693110..41693111 [GRCh38] Chr8:41550628..41550629 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu) |
single nucleotide variant |
ANK1-related disorder [RCV003965559]|Hereditary spherocytosis type 1 [RCV001163346]|Spherocytosis [RCV001163347]|not provided [RCV000755813] |
Chr8:41719803 [GRCh38] Chr8:41577321 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.5051C>T (p.Thr1684Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000755814]|not provided [RCV003546594] |
Chr8:41672399 [GRCh38] Chr8:41529917 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000385550]|Spherocytosis [RCV001165099]|not provided [RCV000224849] |
Chr8:41699515 [GRCh38] Chr8:41557033 [GRCh37] Chr8:8p11.21 |
pathogenic|benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000755817] |
Chr8:41706211 [GRCh38] Chr8:41563729 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.5265G>A (p.Val1755=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000611925]|Spherocytosis [RCV001161009]|not provided [RCV001683096]|not specified [RCV000243612] |
Chr8:41668396 [GRCh38] Chr8:41525914 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001001521]|Spherocytosis [RCV001161930]|not provided [RCV002058303]|not specified [RCV000253299] |
Chr8:41724513 [GRCh38] Chr8:41582031 [GRCh37] Chr8:8p11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000604238]|Spherocytosis [RCV001161487]|not provided [RCV002058297]|not specified [RCV000253390] |
Chr8:41696410 [GRCh38] Chr8:41553928 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.237C>T (p.Asn79=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000336765]|Spherocytosis [RCV001158833]|not provided [RCV000900022]|not specified [RCV000248603] |
Chr8:41727998 [GRCh38] Chr8:41585516 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.5544+91C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000988051]|not provided [RCV001508609]|not specified [RCV000253589] |
Chr8:41661785 [GRCh38] Chr8:41519303 [GRCh37] Chr8:8p11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.5479-3T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000605964]|Spherocytosis [RCV001159628]|not provided [RCV001689902]|not specified [RCV000248795] |
Chr8:41661944 [GRCh38] Chr8:41519462 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000291118]|Spherocytosis [RCV001165327]|not provided [RCV002058294]|not specified [RCV000251294] |
Chr8:41717037 [GRCh38] Chr8:41574555 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.315C>T (p.Asn105=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000600895]|Spherocytosis [RCV001158832]|not provided [RCV001689900]|not specified [RCV000241569] |
Chr8:41727920 [GRCh38] Chr8:41585438 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.2073C>T (p.Gly691=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000393967]|Spherocytosis [RCV001161596]|not provided [RCV001668570]|not specified [RCV000248946] |
Chr8:41706167 [GRCh38] Chr8:41563685 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000363206]|Spherocytosis [RCV001163124]|not provided [RCV001706357]|not specified [RCV000244163] |
Chr8:41708920 [GRCh38] Chr8:41566438 [GRCh37] Chr8:8p11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001158497]|Spherocytosis [RCV001158496]|not provided [RCV000879423]|not specified [RCV000246717] |
Chr8:41715748 [GRCh38] Chr8:41573266 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.2196+6G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001158389]|Spherocytosis [RCV001158388]|not provided [RCV000909219]|not specified [RCV000254082] |
Chr8:41704368 [GRCh38] Chr8:41561886 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001161705]|Spherocytosis [RCV001161704]|not provided [RCV000911518]|not specified [RCV000241940] |
Chr8:41715770 [GRCh38] Chr8:41573288 [GRCh37] Chr8:8p11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.450A>G (p.Val150=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000349721]|Spherocytosis [RCV001163742]|not provided [RCV001706358]|not specified [RCV000244331] |
Chr8:41725923 [GRCh38] Chr8:41583441 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.1686G>A (p.Pro562=) |
single nucleotide variant |
not specified [RCV000244477] |
Chr8:41714991 [GRCh38] Chr8:41572509 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5096+16T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000615666]|not provided [RCV001689901]|not specified [RCV000251821] |
Chr8:41672338 [GRCh38] Chr8:41529856 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000755809]|Spherocytosis [RCV001163126]|not provided [RCV002058295]|not specified [RCV000249630] |
Chr8:41714174 [GRCh38] Chr8:41571692 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000308048]|Spherocytosis [RCV001159739]|not provided [RCV002058302]|not specified [RCV000252101] |
Chr8:41684575 [GRCh38] Chr8:41684575..41684576 [GRCh38] Chr8:41542093 [GRCh37] Chr8:41542093..41542094 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.4390+16C>T |
single nucleotide variant |
not specified [RCV000247347] |
Chr8:41686136 [GRCh38] Chr8:41543654 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3115+8C>T |
single nucleotide variant |
not provided [RCV003736682]|not specified [RCV000249812] |
Chr8:41695169 [GRCh38] Chr8:41552687 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.909+7A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000299497]|Spherocytosis [RCV001165444]|not provided [RCV001610718]|not specified [RCV000245066] |
Chr8:41723118 [GRCh38] Chr8:41580636 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001001485]|not provided [RCV000967845]|not specified [RCV000245152] |
Chr8:41694695 [GRCh38] Chr8:41552213 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000282509]|Spherocytosis [RCV001164659]|not provided [RCV000969890]|not specified [RCV000247478] |
Chr8:41672476 [GRCh38] Chr8:41672476..41672477 [GRCh38] Chr8:41529994 [GRCh37] Chr8:41529994..41529995 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.3486C>T (p.Ser1162=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000407847]|Spherocytosis [RCV001161361]|not provided [RCV002058298]|not specified [RCV000249927] |
Chr8:41693944 [GRCh38] Chr8:41551462 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001000209]|Spherocytosis [RCV001159844]|not provided [RCV002058300]|not specified [RCV000247698] |
Chr8:41690323 [GRCh38] Chr8:41547841 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000388799]|Spherocytosis [RCV001161250]|not provided [RCV002058299]|not specified [RCV000242898] |
Chr8:41690485 [GRCh38] Chr8:41548003 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000406426]|Spherocytosis [RCV001161138]|not provided [RCV002058301]|not specified [RCV000242980] |
Chr8:41686157 [GRCh38] Chr8:41686157..41686158 [GRCh38] Chr8:41543675 [GRCh37] Chr8:41543675..41543676 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.2960+13G>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000270233]|Spherocytosis [RCV001160078]|not provided [RCV003765541]|not specified [RCV000245467] |
Chr8:41696350 [GRCh38] Chr8:41553868 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000319695]|Spherocytosis [RCV001165205]|not provided [RCV000970680]|not specified [RCV000252683] |
Chr8:41715664 [GRCh38] Chr8:41573182 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.183G>C (p.Val61=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001000234]|Spherocytosis [RCV001160175]|not provided [RCV002058296]|not specified [RCV000252769] |
Chr8:41734016 [GRCh38] Chr8:41591534 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.4101C>T (p.Ala1367=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000267243]|Spherocytosis [RCV001164758]|not provided [RCV001660343]|not specified [RCV000252857] |
Chr8:41690230 [GRCh38] Chr8:41547748 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.612+18G>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001001840]|not provided [RCV001668571]|not specified [RCV000248117] |
Chr8:41725743 [GRCh38] Chr8:41583261 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.597G>A (p.Pro199=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000389220]|Spherocytosis [RCV001163452]|not provided [RCV001709554]|not specified [RCV000243356] |
Chr8:41725776 [GRCh38] Chr8:41583294 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.2349C>T (p.Thr783=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000612375]|Spherocytosis [RCV001158386]|not provided [RCV001689899]|not specified [RCV000245902] |
Chr8:41702091 [GRCh38] Chr8:41559609 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000344876]|Spherocytosis [RCV001164868]|not provided [RCV000415950] |
Chr8:41692854 [GRCh38] Chr8:41550372 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001000407]|Spherocytosis [RCV001164987]|not provided [RCV000956602] |
Chr8:41695259 [GRCh38] Chr8:41552777 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.1673G>A (p.Arg558Gln) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000369015]|Spherocytosis [RCV001165201] |
Chr8:41715004 [GRCh38] Chr8:41572522 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000393953]|Inborn genetic diseases [RCV002524563]|Spherocytosis [RCV001161593]|not provided [RCV000963224] |
Chr8:41704403 [GRCh38] Chr8:41561921 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.4259-13T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000302251]|Spherocytosis [RCV001162697]|not provided [RCV001509335] |
Chr8:41686296 [GRCh38] Chr8:41543814 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2097+15C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000302556]|Spherocytosis [RCV001161594]|not provided [RCV002524564] |
Chr8:41706128 [GRCh38] Chr8:41563646 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.1350G>A (p.Thr450=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000322301]|Spherocytosis [RCV001165325] |
Chr8:41717007 [GRCh38] Chr8:41574525 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5289A>G (p.Thr1763=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000322604]|Spherocytosis [RCV001159632] |
Chr8:41668372 [GRCh38] Chr8:41525890 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1286C>T (p.Ser429Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002523682]|Spherocytosis, Dominant [RCV000346156] |
Chr8:41717623 [GRCh38] Chr8:41575141 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1609C>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000370331]|Spherocytosis [RCV001162297]|not provided [RCV004707201] |
Chr8:41654181 [GRCh38] Chr8:41511700 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.*1590G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000269090]|Spherocytosis [RCV001162300] |
Chr8:41654200 [GRCh38] Chr8:41511719 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1404+15C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000286003]|Spherocytosis [RCV001163229]|not provided [RCV001508242] |
Chr8:41716938 [GRCh38] Chr8:41574456 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.704C>A (p.Thr235Lys) |
single nucleotide variant |
Spherocytosis, Dominant [RCV000324228] |
Chr8:41724463 [GRCh38] Chr8:41581981 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1203C>T (p.Thr401=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000398433]|Spherocytosis [RCV001165330]|not provided [RCV000916901] |
Chr8:41718109 [GRCh38] Chr8:41575627 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.3443G>A (p.Arg1148Gln) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000304415]|Spherocytosis [RCV001161364] |
Chr8:41693987 [GRCh38] Chr8:41551505 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2096G>A (p.Arg699Gln) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000348030]|Spherocytosis [RCV001161595] |
Chr8:41706144 [GRCh38] Chr8:41563662 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4721C>T (p.Thr1574Met) |
single nucleotide variant |
Spherocytosis, Dominant [RCV000349129] |
Chr8:41672729 [GRCh38] Chr8:41530247 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4636G>A (p.Val1546Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000400129]|Spherocytosis [RCV001164660] |
Chr8:41672814 [GRCh38] Chr8:41530332 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*4C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000271261]|Spherocytosis [RCV001162508] |
Chr8:41661462 [GRCh38] Chr8:41518980 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000287527]|Spherocytosis [RCV001162799]|not provided [RCV000956601] |
Chr8:41692693 [GRCh38] Chr8:41550211 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.4060C>T (p.His1354Tyr) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000305999]|Spherocytosis [RCV001164759] |
Chr8:41690271 [GRCh38] Chr8:41547789 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*385del |
deletion |
Hereditary spherocytosis type 1 [RCV002253393]|Spherocytosis, Dominant [RCV000306529]|not provided [RCV001692058] |
Chr8:41655405 [GRCh38] Chr8:41512924 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.*1402G>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000326563]|Spherocytosis [RCV001164333] |
Chr8:41654388 [GRCh38] Chr8:41511907 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.4976C>T (p.Ala1659Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000374782]|Spherocytosis [RCV001162604] |
Chr8:41672474 [GRCh38] Chr8:41529992 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000328561]|Spherocytosis [RCV001164544] |
Chr8:41661495 [GRCh38] Chr8:41519013 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1178C>T (p.Thr393Met) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000351772]|Spherocytosis [RCV001158607]|not provided [RCV001508244] |
Chr8:41718134 [GRCh38] Chr8:41575652 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000376292]|Inborn genetic diseases [RCV004022072]|Spherocytosis [RCV001165326]|not provided [RCV000913010] |
Chr8:41717020 [GRCh38] Chr8:41574538 [GRCh37] Chr8:8p11.21 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000308341]|Spherocytosis [RCV001163122]|not provided [RCV002524565] |
Chr8:41708850 [GRCh38] Chr8:41566368 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.660C>T (p.Asn220=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000329011]|Spherocytosis [RCV001161929] |
Chr8:41724507 [GRCh38] Chr8:41582025 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4541A>C (p.Tyr1514Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000352733]|Spherocytosis [RCV001159737] |
Chr8:41672909 [GRCh38] Chr8:41530427 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*992T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000377724]|Spherocytosis [RCV001160780] |
Chr8:41654798 [GRCh38] Chr8:41512317 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.384G>A (p.Lys128=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000401118]|Spherocytosis [RCV001158829] |
Chr8:41727292 [GRCh38] Chr8:41584810 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1628C>T (p.Ala543Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000273925]|Spherocytosis [RCV001165204] |
Chr8:41715049 [GRCh38] Chr8:41572567 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1708G>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000274511]|Spherocytosis [RCV001160688]|not provided [RCV003311793] |
Chr8:41654082 [GRCh38] Chr8:41511601 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.3984+12C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000274712]|Spherocytosis [RCV001161248]|not provided [RCV003766089] |
Chr8:41690462 [GRCh38] Chr8:41547980 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.3532+13C>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000291339]|Spherocytosis [RCV001159957]|not provided [RCV002524562] |
Chr8:41693885 [GRCh38] Chr8:41551403 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.2601T>C (p.Pro867=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000331022]|Spherocytosis [RCV001163014] |
Chr8:41698079 [GRCh38] Chr8:41555597 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4047C>T (p.Tyr1349=) |
single nucleotide variant |
Spherocytosis, Dominant [RCV000353785] |
Chr8:41690284 [GRCh38] Chr8:41547802 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*2123G>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000354283]|Spherocytosis [RCV001164223] |
Chr8:41653667 [GRCh38] Chr8:41511186 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.876G>A (p.Leu292=) |
single nucleotide variant |
ANK1-related disorder [RCV003922633]|Hereditary spherocytosis type 1 [RCV000354387]|Spherocytosis [RCV001165445]|not provided [RCV000921435] |
Chr8:41723158 [GRCh38] Chr8:41580676 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000380462]|Inborn genetic diseases [RCV003298414]|Spherocytosis [RCV001163228] |
Chr8:41715839 [GRCh38] Chr8:41573357 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.711+13C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000259672]|Spherocytosis [RCV001158720]|not provided [RCV003766090] |
Chr8:41724443 [GRCh38] Chr8:41581961 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.*1667T>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000332051] |
Chr8:41654123 [GRCh38] Chr8:41511642 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3984+9A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000331979]|Spherocytosis [RCV001161249]|not provided [RCV000897360] |
Chr8:41690465 [GRCh38] Chr8:41547983 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000355813]|Spherocytosis [RCV001164983]|not provided [RCV003430950] |
Chr8:41694685 [GRCh38] Chr8:41552203 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.1563C>T (p.Ala521=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000355865]|Spherocytosis [RCV001158491]|not provided [RCV000900127] |
Chr8:41715691 [GRCh38] Chr8:41573209 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.1824C>T (p.Ile608=) |
single nucleotide variant |
ANK1-related disorder [RCV003922632]|Hereditary spherocytosis type 1 [RCV000403576]|Spherocytosis [RCV001163125] |
Chr8:41708952 [GRCh38] Chr8:41566470 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.2735+10G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000276024]|Spherocytosis [RCV001163011]|not provided [RCV000905094] |
Chr8:41696666 [GRCh38] Chr8:41554184 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.3115+9G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000311563]|Spherocytosis [RCV001164984]|not provided [RCV000971000] |
Chr8:41695168 [GRCh38] Chr8:41552686 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.3533-10G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000383443]|Spherocytosis [RCV001159956]|not provided [RCV000902626] |
Chr8:41693211 [GRCh38] Chr8:41550729 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.*484dup |
duplication |
Spherocytosis, Dominant [RCV000405198] |
Chr8:41655305..41655306 [GRCh38] Chr8:41512824..41512825 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.*2022G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000261700]|Spherocytosis [RCV001164224]|not provided [RCV004705466] |
Chr8:41653768 [GRCh38] Chr8:41511287 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.1503C>T (p.Thr501=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000261396]|Spherocytosis [RCV001161702] |
Chr8:41715751 [GRCh38] Chr8:41573269 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001000233]|not provided [RCV000880725] |
Chr8:41704125 [GRCh38] Chr8:41561643 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000278155]|Spherocytosis [RCV001162602]|not provided [RCV001861323] |
Chr8:41672405 [GRCh38] Chr8:41529923 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.489C>T (p.Leu163=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000294914]|Spherocytosis [RCV001163739]|not provided [RCV000956603] |
Chr8:41725884 [GRCh38] Chr8:41583402 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.1056G>C (p.Arg352Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000312238]|Spherocytosis [RCV001161828] |
Chr8:41719712 [GRCh38] Chr8:41577230 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*637AC[11] |
microsatellite |
Spherocytosis, Dominant [RCV000312826] |
Chr8:41655130..41655131 [GRCh38] Chr8:41512649..41512650 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) |
single nucleotide variant |
ANK1-related disorder [RCV003950288]|Hereditary spherocytosis type 1 [RCV000359380]|Inborn genetic diseases [RCV002523681]|Spherocytosis [RCV001162700]|not provided [RCV000755816] |
Chr8:41688538 [GRCh38] Chr8:41546056 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.909+9T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000407144]|Spherocytosis [RCV001165443]|not provided [RCV004696074] |
Chr8:41723116 [GRCh38] Chr8:41580634 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1131C>A (p.Ile377=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000407152]|Spherocytosis [RCV001161825] |
Chr8:41718181 [GRCh38] Chr8:41575699 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000407860]|Spherocytosis [RCV001162911]|not provided [RCV000923611] |
Chr8:41694631 [GRCh38] Chr8:41552149 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.229-11A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000407804]|Spherocytosis [RCV001160174]|not provided [RCV002523683] |
Chr8:41728017 [GRCh38] Chr8:41585535 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.4607G>A (p.Arg1536His) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000295632]|Spherocytosis [RCV001164661] |
Chr8:41672843 [GRCh38] Chr8:41530361 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2370G>T (p.Thr790=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000336833]|Spherocytosis [RCV001165101] |
Chr8:41702070 [GRCh38] Chr8:41559588 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.675C>T (p.Leu225=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000360351]|Spherocytosis [RCV001158721]|not provided [RCV000913208] |
Chr8:41724492 [GRCh38] Chr8:41582010 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.*2152T>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000297098]|Spherocytosis [RCV001164222]|not provided [RCV004712581] |
Chr8:41653638 [GRCh38] Chr8:41511157 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.3512G>T (p.Arg1171Leu) |
single nucleotide variant |
Spherocytosis, Dominant [RCV000339281] |
Chr8:41693918 [GRCh38] Chr8:41551436 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000265150]|Spherocytosis [RCV001159631]|not provided [RCV000915662] |
Chr8:41668285 [GRCh38] Chr8:41525803 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.*701C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000280971]|Spherocytosis [RCV001164450] |
Chr8:41655089 [GRCh38] Chr8:41512608 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000298525]|Spherocytosis [RCV001162912]|not provided [RCV000885197] |
Chr8:41694637 [GRCh38] Chr8:41552155 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.1486C>T (p.Pro496Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000316613]|Inborn genetic diseases [RCV004639227]|Spherocytosis [RCV001161703] |
Chr8:41715768 [GRCh38] Chr8:41573286 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*238T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000363501]|Spherocytosis [RCV001160896]|not provided [RCV001692059] |
Chr8:41655552 [GRCh38] Chr8:41513071 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.2835G>A (p.Ala945=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000389156]|Spherocytosis [RCV001161488] |
Chr8:41696488 [GRCh38] Chr8:41554006 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.669G>A (p.Gln223=) |
single nucleotide variant |
ANK1-related disorder [RCV003902417]|Hereditary spherocytosis type 1 [RCV000265674]|Spherocytosis [RCV001161928] |
Chr8:41724498 [GRCh38] Chr8:41582016 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000281838]|Spherocytosis [RCV001165100]|not provided [RCV000755810] |
Chr8:41701608 [GRCh38] Chr8:41559126 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.*2281C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000342063]|Spherocytosis [RCV001162196] |
Chr8:41653509 [GRCh38] Chr8:41511028 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4497C>T (p.His1499=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000365014]|Spherocytosis [RCV001161135] |
Chr8:41684584 [GRCh38] Chr8:41542102 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2197-9A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000342479]|Spherocytosis [RCV001158387] |
Chr8:41704148 [GRCh38] Chr8:41561666 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000342943]|Spherocytosis [RCV001161365]|not provided [RCV000962919] |
Chr8:41694031 [GRCh38] Chr8:41551549 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.*774A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000342881]|Spherocytosis [RCV001162405] |
Chr8:41655016 [GRCh38] Chr8:41512535 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.*1899G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000366817]|Spherocytosis [RCV001164226]|not provided [RCV004707200] |
Chr8:41653891 [GRCh38] Chr8:41511410 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.985G>T (p.Ala329Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000367166]|Spherocytosis [RCV001163345] |
Chr8:41719783 [GRCh38] Chr8:41577301 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4037C>T (p.Ala1346Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000261773]|Spherocytosis [RCV001159841] |
Chr8:41690294 [GRCh38] Chr8:41547812 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*637AC[13] |
microsatellite |
Spherocytosis, Dominant [RCV000338462] |
Chr8:41655129..41655130 [GRCh38] Chr8:41512648..41512649 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*637AC[14] |
microsatellite |
Spherocytosis, Dominant [RCV000391716] |
Chr8:41655129..41655130 [GRCh38] Chr8:41512648..41512649 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*714_*727dup |
duplication |
Spherocytosis, Dominant [RCV000391721] |
Chr8:41655062..41655063 [GRCh38] Chr8:41512581..41512582 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2736-1G>A |
single nucleotide variant |
not provided [RCV000265707] |
Chr8:41696588 [GRCh38] Chr8:41554106 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2681C>T (p.Pro894Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003242882] |
Chr8:41696730 [GRCh38] Chr8:41554248 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1074A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000291254]|Spherocytosis [RCV001159409] |
Chr8:41654716 [GRCh38] Chr8:41512235 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*2342C>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000303495]|Spherocytosis [RCV001160581] |
Chr8:41653448 [GRCh38] Chr8:41510967 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1242G>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000383515]|Spherocytosis [RCV001159406] |
Chr8:41654548 [GRCh38] Chr8:41512067 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5008G>A (p.Val1670Met) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000317785]|Spherocytosis [RCV001162603] |
Chr8:41672442 [GRCh38] Chr8:41529960 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3985-10T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000385452]|Spherocytosis [RCV001161247] |
Chr8:41690356 [GRCh38] Chr8:41547874 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1062T>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000320809]|Spherocytosis [RCV001159410] |
Chr8:41654728 [GRCh38] Chr8:41512247 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*651A>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000369882]|Spherocytosis [RCV001164453] |
Chr8:41655139 [GRCh38] Chr8:41512658 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4524C>T (p.Pro1508=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000407327]|Spherocytosis [RCV001159738] |
Chr8:41684557 [GRCh38] Chr8:41542075 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*921TC[2] |
microsatellite |
Spherocytosis, Dominant [RCV000285567] |
Chr8:41654864..41654865 [GRCh38] Chr8:41512383..41512384 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*2172C>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000390555]|Spherocytosis [RCV001162197] |
Chr8:41653618 [GRCh38] Chr8:41511137 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1179G>A (p.Thr393=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000287452]|Spherocytosis [RCV001158606] |
Chr8:41718133 [GRCh38] Chr8:41575651 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.617G>A (p.Gly206Glu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000325358]|Spherocytosis [RCV001163451] |
Chr8:41724550 [GRCh38] Chr8:41582068 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.649G>A (p.Glu217Lys) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000289107]|Spherocytosis [RCV001161931] |
Chr8:41724518 [GRCh38] Chr8:41582036 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1952G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000300555]|Spherocytosis [RCV001164225] |
Chr8:41653838 [GRCh38] Chr8:41511357 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1A>G (p.Met1Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000655900] |
Chr8:41797538 [GRCh38] Chr8:41655056 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.5370G>T (p.Lys1790Asn) |
single nucleotide variant |
not provided [RCV000733834] |
Chr8:41668291 [GRCh38] Chr8:41525809 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1948A>G (p.Met650Val) |
single nucleotide variant |
Anemia [RCV000415020]|Hereditary spherocytosis type 1 [RCV001197413] |
Chr8:41708828 [GRCh38] Chr8:41566346 [GRCh37] Chr8:8p11.21 |
uncertain significance |
GRCh37/hg19 8p11.21-11.1(chr8:40690198-43388233)x3 |
copy number gain |
See cases [RCV000446823] |
Chr8:40690198..43388233 [GRCh37] Chr8:8p11.21-11.1 |
pathogenic |
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 |
copy number gain |
See cases [RCV000446588] |
Chr8:24772064..24813176 [GRCh37] Chr8:8p21.2-q12.1 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_000037.4(ANK1):c.563C>T (p.Thr188Met) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003488587]|not provided [RCV000419791] |
Chr8:41725810 [GRCh38] Chr8:41583328 [GRCh37] Chr8:8p11.21 |
uncertain significance |
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 |
copy number gain |
See cases [RCV000447909] |
Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 |
copy number gain |
See cases [RCV000447913] |
Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
NM_000037.4(ANK1):c.328-2A>G |
single nucleotide variant |
not provided [RCV000481719] |
Chr8:41727350 [GRCh38] Chr8:41584868 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 |
copy number gain |
See cases [RCV000511028] |
Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_000037.4(ANK1):c.3717G>A (p.Met1239Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001285077] |
Chr8:41692789 [GRCh38] Chr8:41550307 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5538C>G (p.His1846Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003242180] |
Chr8:41661882 [GRCh38] Chr8:41519400 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV000655896] |
Chr8:41668509 [GRCh38] Chr8:41526027 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2011C>T (p.Pro671Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003285529] |
Chr8:41706229 [GRCh38] Chr8:41563747 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4439T>C (p.Val1480Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003299597] |
Chr8:41684642 [GRCh38] Chr8:41542160 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.534del (p.His178fs) |
deletion |
Hereditary spherocytosis type 1 [RCV000655901] |
Chr8:41725839 [GRCh38] Chr8:41583357 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1915del (p.Leu639fs) |
deletion |
ANK1-related disorder [RCV003396992]|Hereditary spherocytosis type 1 [RCV003315123] |
Chr8:41708861 [GRCh38] Chr8:41566379 [GRCh37] Chr8:8p11.21 |
pathogenic |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 |
copy number gain |
See cases [RCV000512169] |
Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
NM_000037.4(ANK1):c.3802A>T (p.Lys1268Ter) |
single nucleotide variant |
not provided [RCV000513041] |
Chr8:41692704 [GRCh38] Chr8:41550222 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3408_3427del (p.Arg1137fs) |
deletion |
not provided [RCV000677121] |
Chr8:41694003..41694022 [GRCh38] Chr8:41551521..41551540 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) |
single nucleotide variant |
ANK1-related disorder [RCV003928656]|Hereditary spherocytosis type 1 [RCV001000394]|Immunodeficiency 62 [RCV003447570]|Spherocytosis [RCV001161824]|not provided [RCV001869418] |
Chr8:41718159 [GRCh38] Chr8:41718159..41718160 [GRCh38] Chr8:41575677 [GRCh37] Chr8:41575677..41575678 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.1998+5G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001001291] |
Chr8:41708773 [GRCh38] Chr8:41566291 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.909+36A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001553993]|not provided [RCV001685513] |
Chr8:41723089 [GRCh38] Chr8:41580607 [GRCh37] Chr8:8p11.21 |
benign |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001163232]|not provided [RCV000893197] |
Chr8:41716970 [GRCh38] Chr8:41574488 [GRCh37] Chr8:8p11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.1293C>T (p.Asn431=) |
single nucleotide variant |
not provided [RCV000915676] |
Chr8:41717616 [GRCh38] Chr8:41575134 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2559-97G>A |
single nucleotide variant |
not provided [RCV001644460] |
Chr8:41698218 [GRCh38] Chr8:41555736 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.612+77C>T |
single nucleotide variant |
not provided [RCV001640810] |
Chr8:41725684 [GRCh38] Chr8:41583202 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.5080G>A (p.Glu1694Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003246979]|not provided [RCV001532615] |
Chr8:41672370 [GRCh38] Chr8:41529888 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4635C>T (p.Ala1545=) |
single nucleotide variant |
not provided [RCV000979702] |
Chr8:41672815 [GRCh38] Chr8:41530333 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2972T>G (p.Val991Gly) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001286927] |
Chr8:41695320 [GRCh38] Chr8:41552838 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2389-1G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001287845] |
Chr8:41701623 [GRCh38] Chr8:41559141 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2559-165T>C |
single nucleotide variant |
not provided [RCV001648548] |
Chr8:41698286 [GRCh38] Chr8:41555804 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.*37-259A>G |
single nucleotide variant |
not provided [RCV001534228] |
Chr8:41656012 [GRCh38] Chr8:41513531 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.427-250A>G |
single nucleotide variant |
not provided [RCV001611736] |
Chr8:41726196 [GRCh38] Chr8:41583714 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.219G>A (p.Thr73=) |
single nucleotide variant |
not provided [RCV000939093] |
Chr8:41733980 [GRCh38] Chr8:41591498 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1638C>T (p.Tyr546=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001165202]|Spherocytosis [RCV001165203] |
Chr8:41715039 [GRCh38] Chr8:41572557 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5544+79C>T |
single nucleotide variant |
not provided [RCV000884821] |
Chr8:41661797 [GRCh38] Chr8:41519315 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2844C>T (p.Arg948=) |
single nucleotide variant |
ANK1-related disorder [RCV003948355]|Hereditary spherocytosis type 1 [RCV003741227]|not provided [RCV000884822] |
Chr8:41696479 [GRCh38] Chr8:41553997 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys) |
single nucleotide variant |
ANK1-related disorder [RCV003975758]|Hereditary spherocytosis type 1 [RCV001804071]|not provided [RCV000903376] |
Chr8:41704438 [GRCh38] Chr8:41561956 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity |
NM_000037.4(ANK1):c.5544+46G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001803179]|not provided [RCV000972775] |
Chr8:41661830 [GRCh38] Chr8:41519348 [GRCh37] Chr8:8p11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000037.4(ANK1):c.4023G>A (p.Ser1341=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003741235]|not provided [RCV000922809] |
Chr8:41690308 [GRCh38] Chr8:41547826 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3115+9G>C |
single nucleotide variant |
not provided [RCV000881284] |
Chr8:41695168 [GRCh38] Chr8:41552686 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2796C>T (p.Asn932=) |
single nucleotide variant |
not provided [RCV000899283] |
Chr8:41696527 [GRCh38] Chr8:41554045 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3342G>A (p.Pro1114=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003117645]|not provided [RCV000923034] |
Chr8:41694088 [GRCh38] Chr8:41551606 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5232C>T (p.Pro1744=) |
single nucleotide variant |
not provided [RCV000883266] |
Chr8:41668429 [GRCh38] Chr8:41525947 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1483A>C (p.Asn495His) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001804043]|not provided [RCV000883267] |
Chr8:41715771 [GRCh38] Chr8:41573289 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity |
NM_000037.4(ANK1):c.1467G>A (p.Leu489=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001804044]|not provided [RCV000883268] |
Chr8:41715787 [GRCh38] Chr8:41573305 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.2424G>A (p.Glu808=) |
single nucleotide variant |
not provided [RCV000982456] |
Chr8:41701587 [GRCh38] Chr8:41559105 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1725G>A (p.Val575=) |
single nucleotide variant |
not provided [RCV000928157] |
Chr8:41714231 [GRCh38] Chr8:41571749 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001164864]|Spherocytosis [RCV001164865]|not provided [RCV000879225] |
Chr8:41692838 [GRCh38] Chr8:41550356 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003741233]|Inborn genetic diseases [RCV004629377]|not provided [RCV000901349] |
Chr8:41690232 [GRCh38] Chr8:41547750 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2826G>A (p.Thr942=) |
single nucleotide variant |
ANK1-related disorder [RCV003943163]|Hereditary spherocytosis type 1 [RCV003741238]|not provided [RCV000967846] |
Chr8:41696497 [GRCh38] Chr8:41554015 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) |
single nucleotide variant |
ANK1-related disorder [RCV003918234]|Hereditary spherocytosis type 1 [RCV001164662]|Inborn genetic diseases [RCV002536557]|Spherocytosis [RCV001159736]|not provided [RCV003688880] |
Chr8:41672844 [GRCh38] Chr8:41530362 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.1480G>A (p.Ala494Thr) |
single nucleotide variant |
not provided [RCV000755815] |
Chr8:41715774 [GRCh38] Chr8:41573292 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3468C>T (p.Thr1156=) |
single nucleotide variant |
not provided [RCV000927096] |
Chr8:41693962 [GRCh38] Chr8:41551480 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1968G>A (p.Ser656=) |
single nucleotide variant |
not provided [RCV000921731] |
Chr8:41708808 [GRCh38] Chr8:41566326 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2688C>G (p.Thr896=) |
single nucleotide variant |
not provided [RCV000906477] |
Chr8:41696723 [GRCh38] Chr8:41554241 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.723G>A (p.Thr241=) |
single nucleotide variant |
not provided [RCV000943148] |
Chr8:41723622 [GRCh38] Chr8:41581140 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1896G>A (p.Ser632=) |
single nucleotide variant |
ANK1-related disorder [RCV003962843]|not provided [RCV000968124] |
Chr8:41708880 [GRCh38] Chr8:41566398 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=) |
single nucleotide variant |
ANK1-related disorder [RCV003906018]|Hereditary spherocytosis type 1 [RCV001164545]|Spherocytosis [RCV001164546]|not provided [RCV000971551] |
Chr8:41661508 [GRCh38] Chr8:41519026 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.4752T>G (p.Ser1584=) |
single nucleotide variant |
not provided [RCV000983648] |
Chr8:41672698 [GRCh38] Chr8:41530216 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) |
single nucleotide variant |
ANK1-related disorder [RCV003910840]|Hereditary spherocytosis type 1 [RCV001164985]|Spherocytosis [RCV001164986]|not provided [RCV000906589] |
Chr8:41695190 [GRCh38] Chr8:41552708 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.841C>T (p.Arg281Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001287819]|not provided [RCV001508247] |
Chr8:41723193 [GRCh38] Chr8:41580711 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2970C>T (p.Ile990=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001286492]|not provided [RCV000965074] |
Chr8:41695322 [GRCh38] Chr8:41552840 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.690C>G (p.Ala230=) |
single nucleotide variant |
ANK1-related disorder [RCV003962844]|not provided [RCV000968125] |
Chr8:41724477 [GRCh38] Chr8:41581995 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3039C>T (p.Asn1013=) |
single nucleotide variant |
not provided [RCV000967084] |
Chr8:41695253 [GRCh38] Chr8:41552771 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5395-1147C>G |
single nucleotide variant |
ANK1-related disorder [RCV003913264]|Hereditary spherocytosis type 1 [RCV001000549]|not provided [RCV000948803] |
Chr8:41664889 [GRCh38] Chr8:41522407 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159954]|Spherocytosis [RCV001159955]|not provided [RCV000943243] |
Chr8:41693164 [GRCh38] Chr8:41550682 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.438G>T (p.Thr146=) |
single nucleotide variant |
not provided [RCV000976621] |
Chr8:41725935 [GRCh38] Chr8:41583453 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2389-10C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001199186]|not provided [RCV000941704] |
Chr8:41701632 [GRCh38] Chr8:41559150 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.1257C>T (p.Ile419=) |
single nucleotide variant |
not provided [RCV000896013] |
Chr8:41717652 [GRCh38] Chr8:41575170 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1702-4G>A |
single nucleotide variant |
not provided [RCV000965447] |
Chr8:41714258 [GRCh38] Chr8:41571776 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3816G>A (p.Gln1272=) |
single nucleotide variant |
not provided [RCV000918803] |
Chr8:41692690 [GRCh38] Chr8:41550208 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5145T>C (p.Asp1715=) |
single nucleotide variant |
not provided [RCV000901108] |
Chr8:41668516 [GRCh38] Chr8:41526034 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.624G>A (p.Thr208=) |
single nucleotide variant |
not provided [RCV000909373] |
Chr8:41724543 [GRCh38] Chr8:41582061 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001002429]|not provided [RCV000924756] |
Chr8:41684633 [GRCh38] Chr8:41542151 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.3045C>T (p.Ser1015=) |
single nucleotide variant |
not provided [RCV000939792] |
Chr8:41695247 [GRCh38] Chr8:41552765 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.4491G>A (p.Arg1497=) |
single nucleotide variant |
not provided [RCV000963362] |
Chr8:41684590 [GRCh38] Chr8:41542108 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.912C>T (p.Asn304=) |
single nucleotide variant |
not provided [RCV000922360] |
Chr8:41719856 [GRCh38] Chr8:41577374 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.24C>T (p.Arg8=) |
single nucleotide variant |
not provided [RCV000929956] |
Chr8:41797515 [GRCh38] Chr8:41655033 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1341C>T (p.Ala447=) |
single nucleotide variant |
not provided [RCV000917795] |
Chr8:41717016 [GRCh38] Chr8:41574534 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) |
single nucleotide variant |
ANK1-related disorder [RCV003940804]|Hereditary spherocytosis type 1 [RCV001161489]|Spherocytosis [RCV001161490]|not provided [RCV000897766] |
Chr8:41696493 [GRCh38] Chr8:41554011 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.327+10C>T |
single nucleotide variant |
not provided [RCV000894645] |
Chr8:41727898 [GRCh38] Chr8:41585416 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.303A>T (p.Gly101=) |
single nucleotide variant |
not provided [RCV000919446] |
Chr8:41727932 [GRCh38] Chr8:41585450 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2745G>A (p.Val915=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003117632]|not provided [RCV000880623] |
Chr8:41696578 [GRCh38] Chr8:41554096 [GRCh37] Chr8:8p11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000037.4(ANK1):c.2267del (p.Asn756fs) |
deletion |
not provided [RCV002284328] |
Chr8:41704069 [GRCh38] Chr8:41561587 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2559-1G>A |
single nucleotide variant |
not provided [RCV003312717] |
Chr8:41698122 [GRCh38] Chr8:41555640 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.*36+989dup |
duplication |
Hereditary spherocytosis type 1 [RCV000988050] |
Chr8:41660439..41660440 [GRCh38] Chr8:41517958..41517959 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001164548]|Spherocytosis [RCV001164547]|not provided [RCV003737009] |
Chr8:41661900 [GRCh38] Chr8:41519418 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.3653G>A (p.Arg1218Gln) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001164867]|Spherocytosis [RCV001164866] |
Chr8:41692853 [GRCh38] Chr8:41550371 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*665C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001164452]|Spherocytosis [RCV001164451] |
Chr8:41655125 [GRCh38] Chr8:41512644 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1728C>T (p.Ala576=) |
single nucleotide variant |
not provided [RCV000919182] |
Chr8:41714228 [GRCh38] Chr8:41571746 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.*1424C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001164329]|Spherocytosis [RCV001164330] |
Chr8:41654366 [GRCh38] Chr8:41511885 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1230G>C (p.Val410=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001165329]|Spherocytosis [RCV001165328] |
Chr8:41717679 [GRCh38] Chr8:41575197 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.875T>C (p.Leu292Pro) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001165447]|Spherocytosis [RCV001165446] |
Chr8:41723159 [GRCh38] Chr8:41580677 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1108-1G>T |
single nucleotide variant |
not provided [RCV000999028] |
Chr8:41718205 [GRCh38] Chr8:41575723 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 |
copy number gain |
not provided [RCV000848192] |
Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
GRCh37/hg19 8p11.21(chr8:41721014-41761807)x3 |
copy number gain |
not provided [RCV000849316] |
Chr8:41721014..41761807 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4051del (p.Asp1351fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001029896] |
Chr8:41690280 [GRCh38] Chr8:41547798 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 |
copy number gain |
not provided [RCV000848822] |
Chr8:36094421..43822214 [GRCh37] Chr8:8p12-11.1 |
uncertain significance |
NM_000037.4(ANK1):c.*795A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162404]|Spherocytosis [RCV001162403] |
Chr8:41654995 [GRCh38] Chr8:41512514 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5628A>G (p.Lys1876=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001164543]|Spherocytosis [RCV001162509] |
Chr8:41661481 [GRCh38] Chr8:41518999 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4183+4C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162698]|Spherocytosis [RCV001162699] |
Chr8:41688507 [GRCh38] Chr8:41546025 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162701]|Spherocytosis [RCV001164753]|not provided [RCV003769785] |
Chr8:41688558 [GRCh38] Chr8:41546076 [GRCh37] Chr8:8p11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 8p11.21(chr8:41462954-41568924)x3 |
copy number gain |
not provided [RCV001006099] |
Chr8:41462954..41568924 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.344T>C (p.Leu115Pro) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001000898] |
Chr8:41727332 [GRCh38] Chr8:41584850 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001002400] |
Chr8:41693179 [GRCh38] Chr8:41550697 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1117A>T (p.Thr373Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001161826]|Spherocytosis [RCV001161827] |
Chr8:41718195 [GRCh38] Chr8:41575713 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1717del (p.Leu573fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001250152]|not provided [RCV001508240] |
Chr8:41714239 [GRCh38] Chr8:41571757 [GRCh37] Chr8:8p11.21 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 |
copy number gain |
not provided [RCV000846266] |
Chr8:39555657..64049089 [GRCh37] Chr8:8p11.22-q12.3 |
pathogenic |
NM_000037.4(ANK1):c.1880C>G (p.Ser627Ter) |
single nucleotide variant |
not provided [RCV003480200] |
Chr8:41708896 [GRCh38] Chr8:41566414 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.721A>G (p.Thr241Ala) |
single nucleotide variant |
not provided [RCV003312718] |
Chr8:41723624 [GRCh38] Chr8:41581142 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*372T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159521]|Spherocytosis [RCV001160895] |
Chr8:41655418 [GRCh38] Chr8:41512937 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.-63A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160179]|Spherocytosis [RCV001160178] |
Chr8:41797601 [GRCh38] Chr8:41655119 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1031G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160778]|Spherocytosis [RCV001160779] |
Chr8:41654759 [GRCh38] Chr8:41512278 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4365C>T (p.Val1455=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001161139]|Spherocytosis [RCV001161140] |
Chr8:41686177 [GRCh38] Chr8:41543695 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001198178] |
Chr8:41672595 [GRCh38] Chr8:41530113 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NC_000008.10:g.(?_41518984)_(42698237_?)dup |
duplication |
Severe combined immunodeficiency due to IKK2 deficiency [RCV003107431] |
Chr8:41518984..42698237 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5344C>T (p.Gln1782Ter) |
single nucleotide variant |
not provided [RCV001543434] |
Chr8:41668317 [GRCh38] Chr8:41525835 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3859-318G>A |
single nucleotide variant |
not provided [RCV001708721] |
Chr8:41690917 [GRCh38] Chr8:41548435 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.910-119A>G |
single nucleotide variant |
not provided [RCV001684527] |
Chr8:41719977 [GRCh38] Chr8:41577495 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2461+799A>C |
single nucleotide variant |
not provided [RCV001621426] |
Chr8:41700751 [GRCh38] Chr8:41558269 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.*36+233G>A |
single nucleotide variant |
not provided [RCV001645819] |
Chr8:41661197 [GRCh38] Chr8:41518715 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.5395-1731T>C |
single nucleotide variant |
not provided [RCV001649574] |
Chr8:41665473 [GRCh38] Chr8:41522991 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1107+165T>C |
single nucleotide variant |
not provided [RCV001685330] |
Chr8:41719496 [GRCh38] Chr8:41577014 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.682del (p.Arg228fs) |
deletion |
not provided [RCV002284329] |
Chr8:41724485 [GRCh38] Chr8:41582003 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1800+241G>A |
single nucleotide variant |
not provided [RCV001695878] |
Chr8:41713915 [GRCh38] Chr8:41571433 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2390_2393del |
microsatellite |
Hereditary spherocytosis type 1 [RCV002501908]|not provided [RCV001562855] |
Chr8:41701618..41701621 [GRCh38] Chr8:41559136..41559139 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.5395-209G>C |
single nucleotide variant |
not provided [RCV001691571] |
Chr8:41663951 [GRCh38] Chr8:41521469 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2960+46C>T |
single nucleotide variant |
not provided [RCV001540846] |
Chr8:41696317 [GRCh38] Chr8:41553835 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.3858+295C>T |
single nucleotide variant |
not provided [RCV001673550] |
Chr8:41692353 [GRCh38] Chr8:41549871 [GRCh37] Chr8:8p11.21 |
benign |
NM_001142446.2(ANK1):c.126+30G>C |
single nucleotide variant |
not provided [RCV001686501] |
Chr8:41896325 [GRCh38] Chr8:41753843 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1702-191T>A |
single nucleotide variant |
not provided [RCV001672352] |
Chr8:41714445 [GRCh38] Chr8:41571963 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1227C>T (p.His409=) |
single nucleotide variant |
not provided [RCV000883080] |
Chr8:41717682 [GRCh38] Chr8:41575200 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1359C>T (p.Ala453=) |
single nucleotide variant |
not provided [RCV000898635] |
Chr8:41716998 [GRCh38] Chr8:41574516 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5544+59T>A |
single nucleotide variant |
not provided [RCV000885335] |
Chr8:41661817 [GRCh38] Chr8:41519335 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.96G>C (p.Leu32=) |
single nucleotide variant |
not provided [RCV000933568] |
Chr8:41758069 [GRCh38] Chr8:41615587 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.4713G>A (p.Ala1571=) |
single nucleotide variant |
not provided [RCV000918324] |
Chr8:41672737 [GRCh38] Chr8:41530255 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1578A>G (p.Glu526=) |
single nucleotide variant |
not provided [RCV000940668] |
Chr8:41715676 [GRCh38] Chr8:41573194 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3615C>T (p.Thr1205=) |
single nucleotide variant |
not provided [RCV000891878] |
Chr8:41693119 [GRCh38] Chr8:41550637 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.882C>T (p.His294=) |
single nucleotide variant |
not provided [RCV000905710] |
Chr8:41723152 [GRCh38] Chr8:41580670 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2520G>A (p.Glu840=) |
single nucleotide variant |
not provided [RCV000905727] |
Chr8:41699490 [GRCh38] Chr8:41557008 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2799C>A (p.Gly933=) |
single nucleotide variant |
not provided [RCV000905862] |
Chr8:41696524 [GRCh38] Chr8:41554042 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001804049]|not provided [RCV000885769] |
Chr8:41719787 [GRCh38] Chr8:41577305 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.5574G>A (p.Pro1858=) |
single nucleotide variant |
not provided [RCV000914963] |
Chr8:41661535 [GRCh38] Chr8:41519053 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.4665G>A (p.Thr1555=) |
single nucleotide variant |
not provided [RCV000910172] |
Chr8:41672785 [GRCh38] Chr8:41530303 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.117C>T (p.Asn39=) |
single nucleotide variant |
not provided [RCV000917073] |
Chr8:41758048 [GRCh38] Chr8:41615566 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2589C>T (p.Pro863=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001165097]|Spherocytosis [RCV001165098]|not provided [RCV000897960] |
Chr8:41698091 [GRCh38] Chr8:41555609 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.5395-1162C>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001000825]|not provided [RCV000954941] |
Chr8:41664904 [GRCh38] Chr8:41522422 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.5395-1057C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003741228]|not provided [RCV000886474] |
Chr8:41664799 [GRCh38] Chr8:41522317 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1405-2A>G |
single nucleotide variant |
not provided [RCV001229794] |
Chr8:41715851 [GRCh38] Chr8:41573369 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.*1603C>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162298]|Spherocytosis [RCV001162299] |
Chr8:41654187 [GRCh38] Chr8:41511706 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1880C>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160683]|Spherocytosis [RCV001159322] |
Chr8:41653910 [GRCh38] Chr8:41511429 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*31C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162505] |
Chr8:41661435 [GRCh38] Chr8:41518953 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162794]|Inborn genetic diseases [RCV002559556]|Spherocytosis [RCV001162793]|not provided [RCV002558554] |
Chr8:41690503 [GRCh38] Chr8:41548021 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*411C>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159514]|Spherocytosis [RCV001159515] |
Chr8:41655379 [GRCh38] Chr8:41512898 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*395T>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159517]|Spherocytosis [RCV001159516] |
Chr8:41655395 [GRCh38] Chr8:41512914 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.2760C>T (p.Asp920=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001163009]|Spherocytosis [RCV001163010] |
Chr8:41696563 [GRCh38] Chr8:41554081 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2713G>A (p.Val905Met) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001163012]|Spherocytosis [RCV001163013] |
Chr8:41696698 [GRCh38] Chr8:41554216 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.964C>A (p.Arg322=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001163349]|Spherocytosis [RCV001163348] |
Chr8:41719804 [GRCh38] Chr8:41577322 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4104+12C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001164757]|Spherocytosis [RCV001164756] |
Chr8:41690215 [GRCh38] Chr8:41547733 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1808A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160687]|Spherocytosis [RCV001160686] |
Chr8:41653982 [GRCh38] Chr8:41511501 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*117G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160897] |
Chr8:41655673 [GRCh38] Chr8:41513192 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*64A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160899]|Spherocytosis [RCV001160898] |
Chr8:41655726 [GRCh38] Chr8:41513245 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5178G>A (p.Thr1726=) |
single nucleotide variant |
not provided [RCV000911077] |
Chr8:41668483 [GRCh38] Chr8:41526001 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3750C>T (p.Asp1250=) |
single nucleotide variant |
not provided [RCV000911114] |
Chr8:41692756 [GRCh38] Chr8:41550274 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5395-1090G>A |
single nucleotide variant |
not provided [RCV000911185] |
Chr8:41664832 [GRCh38] Chr8:41522350 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159842]|Spherocytosis [RCV001159843]|not provided [RCV000891399] |
Chr8:41690309 [GRCh38] Chr8:41547827 [GRCh37] Chr8:8p11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.1731C>G (p.Val577=) |
single nucleotide variant |
not provided [RCV000935899] |
Chr8:41714225 [GRCh38] Chr8:41571743 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3594C>T (p.Asn1198=) |
single nucleotide variant |
not provided [RCV000913752] |
Chr8:41693140 [GRCh38] Chr8:41550658 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.447G>T (p.Ala149=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001163744]|Spherocytosis [RCV001163743]|not provided [RCV000912337] |
Chr8:41725926 [GRCh38] Chr8:41583444 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.5124G>A (p.Ser1708=) |
single nucleotide variant |
not provided [RCV000913866] |
Chr8:41668537 [GRCh38] Chr8:41526055 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3084C>T (p.Tyr1028=) |
single nucleotide variant |
not provided [RCV000911960] |
Chr8:41695208 [GRCh38] Chr8:41552726 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2982G>A (p.Pro994=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160074]|Spherocytosis [RCV001160075]|not provided [RCV000912664] |
Chr8:41695310 [GRCh38] Chr8:41552828 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162696]|Spherocytosis [RCV001161141]|not provided [RCV000912699] |
Chr8:41686201 [GRCh38] Chr8:41543719 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.5395-1238T>G |
single nucleotide variant |
not provided [RCV000913067] |
Chr8:41664980 [GRCh38] Chr8:41522498 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5395-1080C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002227225]|not provided [RCV000889440] |
Chr8:41664822 [GRCh38] Chr8:41522340 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.483G>A (p.Ala161=) |
single nucleotide variant |
ANK1-related disorder [RCV003933000]|Hereditary spherocytosis type 1 [RCV001163741]|Spherocytosis [RCV001163740]|not provided [RCV000912225] |
Chr8:41725890 [GRCh38] Chr8:41583408 [GRCh37] Chr8:8p11.21 |
benign|likely benign|uncertain significance |
NM_000037.4(ANK1):c.*37-267A>G |
single nucleotide variant |
not provided [RCV001620647] |
Chr8:41656020 [GRCh38] Chr8:41513539 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.4664C>T (p.Thr1555Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002836495]|not provided [RCV003162106] |
Chr8:41672786 [GRCh38] Chr8:41530304 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2098-1G>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001731172] |
Chr8:41704473 [GRCh38] Chr8:41561991 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4098C>A (p.Cys1366Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001731173] |
Chr8:41690233 [GRCh38] Chr8:41547751 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.129+125C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001553995]|not provided [RCV001694100] |
Chr8:41757911 [GRCh38] Chr8:41615429 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2632G>T (p.Glu878Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003234618] |
Chr8:41698048 [GRCh38] Chr8:41555566 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3630-73del |
deletion |
not provided [RCV001721755] |
Chr8:41692949 [GRCh38] Chr8:41550467 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.4140del (p.Leu1382fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003108002] |
Chr8:41688554 [GRCh38] Chr8:41546072 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1702-30G>C |
single nucleotide variant |
not provided [RCV001598285] |
Chr8:41714284 [GRCh38] Chr8:41571802 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.4977del (p.Thr1660fs) |
deletion |
not provided [RCV003480185] |
Chr8:41672473 [GRCh38] Chr8:41529991 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_001142446.2(ANK1):c.-129C>T |
single nucleotide variant |
not provided [RCV001689143] |
Chr8:41896609 [GRCh38] Chr8:41754127 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.712-166A>T |
single nucleotide variant |
not provided [RCV001656308] |
Chr8:41723799 [GRCh38] Chr8:41581317 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.327+42A>C |
single nucleotide variant |
not provided [RCV001656453] |
Chr8:41727866 [GRCh38] Chr8:41585384 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.5256G>C (p.Lys1752Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003253230] |
Chr8:41668405 [GRCh38] Chr8:41525923 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3859-90G>A |
single nucleotide variant |
not provided [RCV001619404] |
Chr8:41690689 [GRCh38] Chr8:41548207 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.4104+171T>C |
single nucleotide variant |
not provided [RCV001657171] |
Chr8:41690056 [GRCh38] Chr8:41547574 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1701+109T>C |
single nucleotide variant |
not provided [RCV001716583] |
Chr8:41714867 [GRCh38] Chr8:41572385 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1207-200T>G |
single nucleotide variant |
not provided [RCV001687618] |
Chr8:41717902 [GRCh38] Chr8:41575420 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.5394+285C>G |
single nucleotide variant |
not provided [RCV001713886] |
Chr8:41667982 [GRCh38] Chr8:41525500 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.130-56G>A |
single nucleotide variant |
not provided [RCV001688547] |
Chr8:41734125 [GRCh38] Chr8:41591643 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.4537+321T>C |
single nucleotide variant |
not provided [RCV001685214] |
Chr8:41684223 [GRCh38] Chr8:41541741 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.*37-181G>A |
single nucleotide variant |
not provided [RCV001639370] |
Chr8:41655934 [GRCh38] Chr8:41513453 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.711+256T>A |
single nucleotide variant |
not provided [RCV001669402] |
Chr8:41724200 [GRCh38] Chr8:41581718 [GRCh37] Chr8:8p11.21 |
benign |
NM_001142446.2(ANK1):c.-207C>G |
single nucleotide variant |
not provided [RCV001686581] |
Chr8:41896687 [GRCh38] Chr8:41754205 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.612+64G>A |
single nucleotide variant |
not provided [RCV001649273] |
Chr8:41725697 [GRCh38] Chr8:41583215 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1108-28del |
deletion |
not provided [RCV001613470] |
Chr8:41718232 [GRCh38] Chr8:41575750 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.*36+76C>G |
single nucleotide variant |
not provided [RCV001688567] |
Chr8:41661354 [GRCh38] Chr8:41518872 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.712-136A>G |
single nucleotide variant |
not provided [RCV001670430] |
Chr8:41723769 [GRCh38] Chr8:41581287 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.228+215C>T |
single nucleotide variant |
not provided [RCV001673733] |
Chr8:41733756 [GRCh38] Chr8:41591274 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2559-171G>A |
single nucleotide variant |
not provided [RCV001654150] |
Chr8:41698292 [GRCh38] Chr8:41555810 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1702-133A>C |
single nucleotide variant |
not provided [RCV001638245] |
Chr8:41714387 [GRCh38] Chr8:41571905 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.4258+33T>C |
single nucleotide variant |
not provided [RCV001687130] |
Chr8:41688123 [GRCh38] Chr8:41545641 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.910-147G>A |
single nucleotide variant |
not provided [RCV001621336] |
Chr8:41720005 [GRCh38] Chr8:41577523 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1404+181G>A |
single nucleotide variant |
not provided [RCV001710414] |
Chr8:41716772 [GRCh38] Chr8:41574290 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.3002G>A (p.Arg1001His) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160073]|Spherocytosis [RCV001160072]|not provided [RCV002558514] |
Chr8:41695290 [GRCh38] Chr8:41552808 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2981C>T (p.Pro994Leu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160077]|Spherocytosis [RCV001160076] |
Chr8:41695311 [GRCh38] Chr8:41552829 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*32G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162503]|Spherocytosis [RCV001162504] |
Chr8:41661434 [GRCh38] Chr8:41518952 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5061C>G (p.Pro1687=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162601]|Spherocytosis [RCV001162600] |
Chr8:41672389 [GRCh38] Chr8:41529907 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001002482] |
Chr8:41688541 [GRCh38] Chr8:41546059 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162599]|Inborn genetic diseases [RCV002557374]|Spherocytosis [RCV001161014] |
Chr8:41668542 [GRCh38] Chr8:41526060 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) |
single nucleotide variant |
ANK1-related disorder [RCV003938535]|Hereditary spherocytosis type 1 [RCV001162798]|Spherocytosis [RCV001162797]|not provided [RCV001815502] |
Chr8:41692677 [GRCh38] Chr8:41692677..41692678 [GRCh38] Chr8:41550195 [GRCh37] Chr8:41550195..41550196 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.3342G>T (p.Pro1114=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162909]|Spherocytosis [RCV001162910] |
Chr8:41694088 [GRCh38] Chr8:41551606 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3941A>C (p.His1314Pro) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162795]|Inborn genetic diseases [RCV003363125]|Spherocytosis [RCV001162796] |
Chr8:41690517 [GRCh38] Chr8:41548035 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001163123]|not provided [RCV002261295] |
Chr8:41708917 [GRCh38] Chr8:41566435 [GRCh37] Chr8:8p11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.1404+15C>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001163230]|Spherocytosis [RCV001163231] |
Chr8:41716938 [GRCh38] Chr8:41574456 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001158604]|Spherocytosis [RCV001158603]|not provided [RCV003425961] |
Chr8:41718115 [GRCh38] Chr8:41575633 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.1194C>T (p.Asp398=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001158605]|not provided [RCV003718372] |
Chr8:41718118 [GRCh38] Chr8:41575636 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.1535G>A (p.Arg512His) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001158493]|Spherocytosis [RCV001158492] |
Chr8:41715719 [GRCh38] Chr8:41573237 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*857C>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160783]|Spherocytosis [RCV001160784] |
Chr8:41654933 [GRCh38] Chr8:41512452 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.1521G>A (p.Leu507=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001158495]|Spherocytosis [RCV001158494] |
Chr8:41715733 [GRCh38] Chr8:41573251 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1441G>A (p.Gly481Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001161707]|Spherocytosis [RCV001161706] |
Chr8:41715813 [GRCh38] Chr8:41573331 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1892G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159319]|Spherocytosis [RCV001159318] |
Chr8:41653898 [GRCh38] Chr8:41511417 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.*1884G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159320]|Spherocytosis [RCV001159321] |
Chr8:41653906 [GRCh38] Chr8:41511425 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5448G>A (p.Thr1816=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159629]|Spherocytosis [RCV001159630] |
Chr8:41663689 [GRCh38] Chr8:41521207 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3532+10G>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159958]|Spherocytosis [RCV001161360] |
Chr8:41693888 [GRCh38] Chr8:41551406 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1892G>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159317]|Spherocytosis [RCV001159316] |
Chr8:41653898 [GRCh38] Chr8:41511417 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1120T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159407]|Spherocytosis [RCV001159408] |
Chr8:41654670 [GRCh38] Chr8:41512189 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*385G>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159518]|not provided [RCV004695016] |
Chr8:41655405 [GRCh38] Chr8:41512924 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*378T>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001159519]|Spherocytosis [RCV001159520] |
Chr8:41655412 [GRCh38] Chr8:41512931 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*866C>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160782]|Spherocytosis [RCV001160781] |
Chr8:41654924 [GRCh38] Chr8:41512443 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*48G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160901]|Spherocytosis [RCV001160900] |
Chr8:41655742 [GRCh38] Chr8:41513261 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5177C>T (p.Thr1726Met) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001161012]|Spherocytosis [RCV001161013] |
Chr8:41668484 [GRCh38] Chr8:41526002 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4390+9C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001161137]|Spherocytosis [RCV001161136] |
Chr8:41686143 [GRCh38] Chr8:41543661 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4105-287C>T |
single nucleotide variant |
not provided [RCV001647794] |
Chr8:41688876 [GRCh38] Chr8:41546394 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.5479-17T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001000824]|not provided [RCV002068760] |
Chr8:41661958 [GRCh38] Chr8:41519476 [GRCh37] Chr8:8p11.21 |
benign|uncertain significance |
NM_000037.4(ANK1):c.1801-158GTTT[5] |
microsatellite |
not provided [RCV001694245] |
Chr8:41709117..41709118 [GRCh38] Chr8:41566635..41566636 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.4104+85C>T |
single nucleotide variant |
not provided [RCV001694280] |
Chr8:41690142 [GRCh38] Chr8:41547660 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001002212]|Inborn genetic diseases [RCV004030269] |
Chr8:41717632 [GRCh38] Chr8:41575150 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2637+188C>T |
single nucleotide variant |
not provided [RCV001684507] |
Chr8:41697855 [GRCh38] Chr8:41555373 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2389-45del |
deletion |
not provided [RCV001707153] |
Chr8:41701667 [GRCh38] Chr8:41559185 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2558+128G>A |
single nucleotide variant |
not provided [RCV001682113] |
Chr8:41699324 [GRCh38] Chr8:41556842 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2637+88A>G |
single nucleotide variant |
not provided [RCV001708024] |
Chr8:41697955 [GRCh38] Chr8:41555473 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1107+58G>C |
single nucleotide variant |
not provided [RCV001649329] |
Chr8:41719603 [GRCh38] Chr8:41577121 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.3859-195G>A |
single nucleotide variant |
not provided [RCV001678963] |
Chr8:41690794 [GRCh38] Chr8:41548312 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.5394+197G>A |
single nucleotide variant |
not provided [RCV001615837] |
Chr8:41668070 [GRCh38] Chr8:41525588 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1405-121C>T |
single nucleotide variant |
not provided [RCV001652493] |
Chr8:41715970 [GRCh38] Chr8:41573488 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1206+185C>T |
single nucleotide variant |
not provided [RCV001669661] |
Chr8:41717921 [GRCh38] Chr8:41575439 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2559-101T>C |
single nucleotide variant |
not provided [RCV001612694] |
Chr8:41698222 [GRCh38] Chr8:41555740 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1306-167T>G |
single nucleotide variant |
not provided [RCV001685171] |
Chr8:41717218 [GRCh38] Chr8:41574736 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.*821C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162402]|Spherocytosis [RCV001162401] |
Chr8:41654969 [GRCh38] Chr8:41512488 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.*8C>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162507]|Spherocytosis [RCV001162506] |
Chr8:41661458 [GRCh38] Chr8:41518976 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.3971C>T (p.Ala1324Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162792]|Spherocytosis [RCV001161251] |
Chr8:41690487 [GRCh38] Chr8:41548005 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NC_000008.11:g.41896958T>G |
single nucleotide variant |
not provided [RCV001690689] |
Chr8:41896958 [GRCh38] Chr8:41754476 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.5479-326dup |
duplication |
not provided [RCV001695699] |
Chr8:41662256..41662257 [GRCh38] Chr8:41519774..41519775 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1050C>T (p.His350=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001163343] |
Chr8:41719718 [GRCh38] Chr8:41577236 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) |
single nucleotide variant |
ANK1-related disorder [RCV003908415]|Hereditary spherocytosis type 1 [RCV001163344]|See cases [RCV002252320]|not provided [RCV002067984] |
Chr8:41719771 [GRCh38] Chr8:41577289 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.4538-52G>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001553992]|not provided [RCV001615310] |
Chr8:41672964 [GRCh38] Chr8:41530482 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.3770G>A (p.Arg1257His) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001001053] |
Chr8:41692736 [GRCh38] Chr8:41550254 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1474C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162302]|Spherocytosis [RCV001162301] |
Chr8:41654316 [GRCh38] Chr8:41511835 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001002452] |
Chr8:41686236 [GRCh38] Chr8:41543754 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.528C>T (p.Ala176=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001163453]|Spherocytosis [RCV001163454] |
Chr8:41725845 [GRCh38] Chr8:41583363 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.*1250A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001164335]|Spherocytosis [RCV001164334] |
Chr8:41654540 [GRCh38] Chr8:41512059 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4105-5T>G |
single nucleotide variant |
ANK1-related disorder [RCV003945886]|Hereditary spherocytosis type 1 [RCV001164754]|Spherocytosis [RCV001164755]|not provided [RCV002557409] |
Chr8:41688594 [GRCh38] Chr8:41546112 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.801C>T (p.Thr267=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001158717]|Spherocytosis [RCV001158716] |
Chr8:41723544 [GRCh38] Chr8:41581062 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.722C>T (p.Thr241Met) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001158719]|Spherocytosis [RCV001158718] |
Chr8:41723623 [GRCh38] Chr8:41581141 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.327+3A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001158830]|Spherocytosis [RCV001158831] |
Chr8:41727905 [GRCh38] Chr8:41585423 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1412G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001164331]|Spherocytosis [RCV001164332] |
Chr8:41654378 [GRCh38] Chr8:41511897 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*437A>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001164455]|Spherocytosis [RCV001164454] |
Chr8:41655353 [GRCh38] Chr8:41512872 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.-33G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160176]|Spherocytosis [RCV001160177] |
Chr8:41797571 [GRCh38] Chr8:41655089 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3709C>A (p.Pro1237Thr) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001164862]|Spherocytosis [RCV001164863] |
Chr8:41692797 [GRCh38] Chr8:41550315 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*2409C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160580]|Spherocytosis [RCV001160579] |
Chr8:41653381 [GRCh38] Chr8:41510900 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*1858A>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001160684]|Spherocytosis [RCV001160685] |
Chr8:41653932 [GRCh38] Chr8:41511451 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001000374]|Inborn genetic diseases [RCV004030258] |
Chr8:41694690 [GRCh38] Chr8:41552208 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5208T>A (p.Ser1736Arg) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001161010]|Spherocytosis [RCV001161011] |
Chr8:41668453 [GRCh38] Chr8:41525971 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001002597]|Spherocytosis [RCV001163455] |
Chr8:41725874 [GRCh38] Chr8:41583392 [GRCh37] Chr8:8p11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.3469G>A (p.Asp1157Asn) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001161362]|Spherocytosis [RCV001161363] |
Chr8:41693961 [GRCh38] Chr8:41551479 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2817G>A (p.Pro939=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001161492]|Spherocytosis [RCV001161491] |
Chr8:41696506 [GRCh38] Chr8:41554024 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*822G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001162400]|Spherocytosis [RCV001162399] |
Chr8:41654968 [GRCh38] Chr8:41512487 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.533del (p.His178fs) |
deletion |
not provided [RCV003480221] |
Chr8:41725840 [GRCh38] Chr8:41583358 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.371T>A (p.Leu124Ter) |
single nucleotide variant |
not provided [RCV003480226] |
Chr8:41727305 [GRCh38] Chr8:41584823 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1258G>A (p.Val420Met) |
single nucleotide variant |
Microcephaly [RCV001252749] |
Chr8:41717651 [GRCh38] Chr8:41575169 [GRCh37] Chr8:8p11.21 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_000037.4(ANK1):c.5097-34C>T |
single nucleotide variant |
ANK1-related disorder [RCV003908479]|Hereditary spherocytosis type 1 [RCV001258261]|not provided [RCV003433097] |
Chr8:41668598 [GRCh38] Chr8:41526116 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_000037.4(ANK1):c.1327A>G (p.Met443Val) |
single nucleotide variant |
not provided [RCV001311331] |
Chr8:41717030 [GRCh38] Chr8:41574548 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2544_2548dup (p.Leu850fs) |
duplication |
not provided [RCV001268004] |
Chr8:41699461..41699462 [GRCh38] Chr8:41556979..41556980 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1693G>T (p.Ala565Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001332123] |
Chr8:41714984 [GRCh38] Chr8:41572502 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.639G>A (p.Ala213=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001287256] |
Chr8:41724528 [GRCh38] Chr8:41582046 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.229-47G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001553994]|not provided [RCV001713041] |
Chr8:41728053 [GRCh38] Chr8:41585571 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.758T>G (p.Ile253Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001286891] |
Chr8:41723587 [GRCh38] Chr8:41581105 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2688C>T (p.Thr896=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001284926] |
Chr8:41696723 [GRCh38] Chr8:41554241 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001287319] |
Chr8:41695197..41695200 [GRCh38] Chr8:41552715..41552718 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.3202C>T (p.Arg1068Trp) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001289694] |
Chr8:41694717 [GRCh38] Chr8:41552235 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1771C>G (p.Arg591Gly) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001289661] |
Chr8:41714185 [GRCh38] Chr8:41571703 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.830A>C (p.His277Pro) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001289706] |
Chr8:41723204 [GRCh38] Chr8:41580722 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3327+21C>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001289728]|not provided [RCV001615151] |
Chr8:41694571 [GRCh38] Chr8:41552089 [GRCh37] Chr8:8p11.21 |
benign |
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) |
copy number gain |
Abnormal fetal cardiovascular morphology [RCV001291977] |
Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
NM_000037.4(ANK1):c.5260del (p.Leu1754fs) |
deletion |
not provided [RCV001290760] |
Chr8:41668401 [GRCh38] Chr8:41525919 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1702-3_1710del |
deletion |
Hereditary spherocytosis type 1 [RCV001287348] |
Chr8:41714246..41714257 [GRCh38] Chr8:41571764..41571775 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.-204C>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001285464]|not provided [RCV003426026] |
Chr8:41797742 [GRCh38] Chr8:41655260 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001286066] |
Chr8:41708885 [GRCh38] Chr8:41566403 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2508T>A (p.Asp836Glu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001286202] |
Chr8:41699502 [GRCh38] Chr8:41557020 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001286935] |
Chr8:41704406 [GRCh38] Chr8:41561924 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1800+3A>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001286849] |
Chr8:41714153 [GRCh38] Chr8:41571671 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2258T>C (p.Leu753Pro) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001289697] |
Chr8:41704078 [GRCh38] Chr8:41561596 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2296-20C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001289727]|not provided [RCV002070105] |
Chr8:41702164 [GRCh38] Chr8:41559682 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.4458C>T (p.Ser1486=) |
single nucleotide variant |
not provided [RCV001311330] |
Chr8:41684623 [GRCh38] Chr8:41542141 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.30C>A (p.Ala10=) |
single nucleotide variant |
not provided [RCV001508251] |
Chr8:41758135 [GRCh38] Chr8:41615653 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1839C>G (p.Asn613Lys) |
single nucleotide variant |
not provided [RCV001508239] |
Chr8:41708937 [GRCh38] Chr8:41566455 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*2272C>G |
single nucleotide variant |
not provided [RCV001508606] |
Chr8:41653518 [GRCh38] Chr8:41511037 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4813del (p.Ala1605fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003136091]|not provided [RCV001508612] |
Chr8:41672637 [GRCh38] Chr8:41530155 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.4694del (p.Asp1565fs) |
deletion |
not provided [RCV001509333] |
Chr8:41672756 [GRCh38] Chr8:41530274 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2314G>A (p.Ala772Thr) |
single nucleotide variant |
not provided [RCV001509342] |
Chr8:41702126 [GRCh38] Chr8:41559644 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001564049]|not provided [RCV001509336] |
Chr8:41690331 [GRCh38] Chr8:41547849 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.2197-17G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001803333]|not provided [RCV001509344] |
Chr8:41704156 [GRCh38] Chr8:41561674 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.4541del (p.Tyr1514fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001534605] |
Chr8:41672909 [GRCh38] Chr8:41530427 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1427_1430dup (p.Ala478fs) |
duplication |
Hereditary spherocytosis type 1 [RCV001534606] |
Chr8:41715823..41715824 [GRCh38] Chr8:41573341..41573342 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001534607] |
Chr8:41690274 [GRCh38] Chr8:41547792 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.911_912del (p.Asn304fs) |
deletion |
not provided [RCV001508245] |
Chr8:41719856..41719857 [GRCh38] Chr8:41577374..41577375 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.909+24C>T |
single nucleotide variant |
not provided [RCV001508246] |
Chr8:41723101 [GRCh38] Chr8:41580619 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5097-147C>A |
single nucleotide variant |
not provided [RCV001693080] |
Chr8:41668711 [GRCh38] Chr8:41526229 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.229-53C>T |
single nucleotide variant |
not provided [RCV001684179] |
Chr8:41728059 [GRCh38] Chr8:41585577 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2284G>A (p.Glu762Lys) |
single nucleotide variant |
not provided [RCV001509343] |
Chr8:41704052 [GRCh38] Chr8:41561570 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2098-5T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003490265]|not provided [RCV001509345] |
Chr8:41704477 [GRCh38] Chr8:41561995 [GRCh37] Chr8:8p11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000037.4(ANK1):c.4472G>A (p.Arg1491His) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003136092]|Inborn genetic diseases [RCV004037909]|not provided [RCV001509334] |
Chr8:41684609 [GRCh38] Chr8:41542127 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3186C>G (p.Tyr1062Ter) |
single nucleotide variant |
not provided [RCV001509340] |
Chr8:41694733 [GRCh38] Chr8:41552251 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2960+1G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003132510]|not provided [RCV001509341] |
Chr8:41696362 [GRCh38] Chr8:41553880 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3116-122C>T |
single nucleotide variant |
not provided [RCV001643687] |
Chr8:41694925 [GRCh38] Chr8:41552443 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.229-55C>T |
single nucleotide variant |
not provided [RCV001680030] |
Chr8:41728061 [GRCh38] Chr8:41585579 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.3859-92G>A |
single nucleotide variant |
not provided [RCV001688207] |
Chr8:41690691 [GRCh38] Chr8:41548209 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.5544+146A>G |
single nucleotide variant |
not provided [RCV001667308] |
Chr8:41661730 [GRCh38] Chr8:41519248 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2637+195A>G |
single nucleotide variant |
not provided [RCV001716423] |
Chr8:41697848 [GRCh38] Chr8:41555366 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.4391-49C>T |
single nucleotide variant |
not provided [RCV001696250] |
Chr8:41684739 [GRCh38] Chr8:41542257 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.4104+62A>G |
single nucleotide variant |
not provided [RCV001687743] |
Chr8:41690165 [GRCh38] Chr8:41547683 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2295+176C>T |
single nucleotide variant |
not provided [RCV001708391] |
Chr8:41703865 [GRCh38] Chr8:41561383 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.2461+170A>C |
single nucleotide variant |
not provided [RCV001724609] |
Chr8:41701380 [GRCh38] Chr8:41558898 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.810+147C>T |
single nucleotide variant |
not provided [RCV001687386] |
Chr8:41723388 [GRCh38] Chr8:41580906 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.3328-108C>T |
single nucleotide variant |
not provided [RCV001688056] |
Chr8:41694210 [GRCh38] Chr8:41551728 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.1702-54G>C |
single nucleotide variant |
not provided [RCV001714992] |
Chr8:41714308 [GRCh38] Chr8:41571826 [GRCh37] Chr8:8p11.21 |
benign |
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003490264]|not provided [RCV001509337] |
Chr8:41694044 [GRCh38] Chr8:41551562 [GRCh37] Chr8:8p11.21 |
likely pathogenic|uncertain significance |
NM_000037.4(ANK1):c.3188del (p.Phe1063fs) |
deletion |
not provided [RCV001509339] |
Chr8:41694731 [GRCh38] Chr8:41552249 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2014del (p.Leu672fs) |
deletion |
not provided [RCV001509346] |
Chr8:41706226 [GRCh38] Chr8:41563744 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1998G>A (p.Lys666=) |
single nucleotide variant |
not provided [RCV001509347] |
Chr8:41708778 [GRCh38] Chr8:41566296 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3235G>T (p.Glu1079Ter) |
single nucleotide variant |
not provided [RCV001509338] |
Chr8:41694684 [GRCh38] Chr8:41552202 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.488T>C (p.Leu163Pro) |
single nucleotide variant |
not provided [RCV001508248] |
Chr8:41725885 [GRCh38] Chr8:41583403 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*417G>C |
single nucleotide variant |
not provided [RCV001508607] |
Chr8:41655373 [GRCh38] Chr8:41512892 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5545-72T>G |
single nucleotide variant |
not provided [RCV001508608] |
Chr8:41661636 [GRCh38] Chr8:41519154 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5486G>A (p.Arg1829His) |
single nucleotide variant |
not provided [RCV001508611] |
Chr8:41661934 [GRCh38] Chr8:41519452 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2104dup (p.Tyr702fs) |
duplication |
Hereditary spherocytosis type 1 [RCV001728107] |
Chr8:41704465..41704466 [GRCh38] Chr8:41561983..41561984 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2393_2403del (p.Val798fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001728108] |
Chr8:41701608..41701618 [GRCh38] Chr8:41559126..41559136 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2004del (p.Leu669fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001728106] |
Chr8:41706236 [GRCh38] Chr8:41563754 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.5526C>T (p.Ala1842=) |
single nucleotide variant |
not provided [RCV003108700] |
Chr8:41661894 [GRCh38] Chr8:41519412 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.382_386del (p.Lys128fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001728102] |
Chr8:41727290..41727294 [GRCh38] Chr8:41584808..41584812 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.3203G>A (p.Arg1068Gln) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001728110] |
Chr8:41694716 [GRCh38] Chr8:41552234 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3850del (p.Asp1284fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001728104] |
Chr8:41692656 [GRCh38] Chr8:41550174 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001728105]|not provided [RCV002539780] |
Chr8:41684616 [GRCh38] Chr8:41542134 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.3775del (p.Tyr1259fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001728103] |
Chr8:41692731 [GRCh38] Chr8:41550249 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3269del (p.Leu1090fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001728111] |
Chr8:41694650 [GRCh38] Chr8:41552168 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3629+2T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001728112] |
Chr8:41693103 [GRCh38] Chr8:41550621 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.3059_3066del (p.His1020fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001728109] |
Chr8:41695226..41695233 [GRCh38] Chr8:41552744..41552751 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.5615G>A (p.Arg1872Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002539880]|not provided [RCV001756669] |
Chr8:41661494 [GRCh38] Chr8:41519012 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.*36+1G>A |
single nucleotide variant |
not provided [RCV001754745] |
Chr8:41661429 [GRCh38] Chr8:41518947 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2768del (p.Gly923fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001785931] |
Chr8:41696555 [GRCh38] Chr8:41554073 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2558+2T>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001785934] |
Chr8:41699450 [GRCh38] Chr8:41556968 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001783502]|not provided [RCV002541152] |
Chr8:41701614..41701617 [GRCh38] Chr8:41559132..41559135 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.5485C>T (p.Arg1829Cys) |
single nucleotide variant |
not provided [RCV001773117] |
Chr8:41661935 [GRCh38] Chr8:41519453 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4447C>A (p.Leu1483Met) |
single nucleotide variant |
not provided [RCV001773118] |
Chr8:41684634 [GRCh38] Chr8:41542152 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.725del (p.Pro242fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001785923] |
Chr8:41723620 [GRCh38] Chr8:41581138 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.4835del (p.Gly1612fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001785935] |
Chr8:41672615 [GRCh38] Chr8:41530133 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.712-2A>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001785924] |
Chr8:41723635 [GRCh38] Chr8:41581153 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2961-2A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001785925]|not provided [RCV003481128] |
Chr8:41695333 [GRCh38] Chr8:41552851 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.1781_1794del (p.Ser594fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001785926] |
Chr8:41714162..41714175 [GRCh38] Chr8:41571680..41571693 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001785927] |
Chr8:41690530 [GRCh38] Chr8:41548048 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.935C>A (p.Ala312Glu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001785928] |
Chr8:41719833 [GRCh38] Chr8:41577351 [GRCh37] Chr8:8p11.21 |
likely pathogenic|uncertain significance |
NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter) |
single nucleotide variant |
ANK1-related disorder [RCV003416450]|Hereditary spherocytosis type 1 [RCV001785929]|not provided [RCV001885175] |
Chr8:41694762 [GRCh38] Chr8:41552280 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.28-2del |
deletion |
Hereditary spherocytosis type 1 [RCV001785930] |
Chr8:41758139 [GRCh38] Chr8:41615657 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1452del (p.Asn484fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001785932] |
Chr8:41715802 [GRCh38] Chr8:41573320 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001785933] |
Chr8:41708881 [GRCh38] Chr8:41566399 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.31G>A (p.Asp11Asn) |
single nucleotide variant |
not provided [RCV001768520] |
Chr8:41758134 [GRCh38] Chr8:41615652 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4421T>C (p.Ile1474Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002540371]|not provided [RCV001765421] |
Chr8:41684660 [GRCh38] Chr8:41542178 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5447C>T (p.Thr1816Met) |
single nucleotide variant |
not provided [RCV001770688] |
Chr8:41663690 [GRCh38] Chr8:41521208 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5598G>A (p.Gly1866=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802377] |
Chr8:41661511 [GRCh38] Chr8:41519029 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5395-1157A>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802422] |
Chr8:41664899 [GRCh38] Chr8:41522417 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1602+18G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001803595] |
Chr8:41715634 [GRCh38] Chr8:41573152 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1801-2A>T |
single nucleotide variant |
not provided [RCV001733431] |
Chr8:41708977 [GRCh38] Chr8:41566495 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2102del (p.Gly701fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001803645] |
Chr8:41704468 [GRCh38] Chr8:41561986 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1135del (p.Cys379fs) |
deletion |
Hereditary spherocytosis type 1 [RCV001802572] |
Chr8:41718177 [GRCh38] Chr8:41575695 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.4538-6A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802603] |
Chr8:41672918 [GRCh38] Chr8:41530436 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1999-17C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802636]|not provided [RCV002074169] |
Chr8:41706258 [GRCh38] Chr8:41563776 [GRCh37] Chr8:8p11.21 |
benign|likely benign |
NM_001142446.2(ANK1):c.127-39556C>T |
single nucleotide variant |
ANK1-related disorder [RCV003941137]|Hereditary spherocytosis type 1 [RCV001803586] |
Chr8:41797693 [GRCh38] Chr8:41655211 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802276] |
Chr8:41661509 [GRCh38] Chr8:41519027 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity |
NM_000037.4(ANK1):c.947A>G (p.Asp316Gly) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802325] |
Chr8:41719821 [GRCh38] Chr8:41577339 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802420]|not provided [RCV001869471] |
Chr8:41696520 [GRCh38] Chr8:41554038 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.356C>G (p.Ala119Gly) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001803571] |
Chr8:41727320 [GRCh38] Chr8:41584838 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5108G>A (p.Trp1703Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001808148] |
Chr8:41668553 [GRCh38] Chr8:41526071 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802573]|not provided [RCV003481130] |
Chr8:41727267 [GRCh38] Chr8:41584785 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.5436_5437insCAGGG (p.Glu1813fs) |
insertion |
Hereditary spherocytosis type 1 [RCV001802703] |
Chr8:41663700..41663701 [GRCh38] Chr8:41521218..41521219 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1702-2A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802754] |
Chr8:41714256 [GRCh38] Chr8:41571774 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.2810T>C (p.Val937Ala) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001803508] |
Chr8:41696513 [GRCh38] Chr8:41554031 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1305+21G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001803575] |
Chr8:41717583 [GRCh38] Chr8:41575101 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802321] |
Chr8:41717644 [GRCh38] Chr8:41575162 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001803633] |
Chr8:41718188 [GRCh38] Chr8:41575706 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.931A>G (p.Met311Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802467] |
Chr8:41719837 [GRCh38] Chr8:41577355 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2352C>T (p.Asp784=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001802554] |
Chr8:41702088 [GRCh38] Chr8:41559606 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.4444A>G (p.Met1482Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV001823654] |
Chr8:41684637 [GRCh38] Chr8:41542155 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2347A>G (p.Thr783Ala) |
single nucleotide variant |
not provided [RCV001912321] |
Chr8:41702093 [GRCh38] Chr8:41559611 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3328-13T>A |
single nucleotide variant |
not provided [RCV001895221] |
Chr8:41694115 [GRCh38] Chr8:41551633 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3116-9T>A |
single nucleotide variant |
not provided [RCV002043999] |
Chr8:41694812 [GRCh38] Chr8:41552330 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3016_3022dup (p.Val1008fs) |
duplication |
not provided [RCV001984897] |
Chr8:41695269..41695270 [GRCh38] Chr8:41552787..41552788 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4658C>T (p.Ala1553Val) |
single nucleotide variant |
not provided [RCV001967963] |
Chr8:41672792 [GRCh38] Chr8:41530310 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.856C>T (p.Arg286Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003490972]|not provided [RCV001942222] |
Chr8:41723178 [GRCh38] Chr8:41580696 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1549G>T (p.Glu517Ter) |
single nucleotide variant |
not provided [RCV001870517] |
Chr8:41715705 [GRCh38] Chr8:41573223 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.5395G>A (p.Gly1799Arg) |
single nucleotide variant |
not provided [RCV001904062] |
Chr8:41663742 [GRCh38] Chr8:41521260 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2961-1G>A |
single nucleotide variant |
not provided [RCV002032895] |
Chr8:41695332 [GRCh38] Chr8:41552850 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.4390+1G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003130683]|not provided [RCV002031289] |
Chr8:41686151 [GRCh38] Chr8:41543669 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002291004]|not provided [RCV001884612] |
Chr8:41684667 [GRCh38] Chr8:41542185 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.358C>T (p.Gln120Ter) |
single nucleotide variant |
not provided [RCV001906875] |
Chr8:41727318 [GRCh38] Chr8:41584836 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2947del (p.Ala983fs) |
deletion |
not provided [RCV001994457] |
Chr8:41696376 [GRCh38] Chr8:41553894 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2350G>A (p.Asp784Asn) |
single nucleotide variant |
not provided [RCV002223650] |
Chr8:41702090 [GRCh38] Chr8:41559608 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1999-18A>G |
single nucleotide variant |
not provided [RCV002205753] |
Chr8:41706259 [GRCh38] Chr8:41563777 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1801-18C>T |
single nucleotide variant |
not provided [RCV002212039] |
Chr8:41708993 [GRCh38] Chr8:41566511 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5223G>A (p.Gly1741=) |
single nucleotide variant |
not provided [RCV002131421] |
Chr8:41668438 [GRCh38] Chr8:41525956 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3275del (p.Gln1092fs) |
deletion |
Hereditary spherocytosis type 1 [RCV002227334] |
Chr8:41694644 [GRCh38] Chr8:41552162 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.3327+19G>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003741293]|not provided [RCV002121000] |
Chr8:41694573 [GRCh38] Chr8:41552091 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1603-6C>T |
single nucleotide variant |
not provided [RCV002203056] |
Chr8:41715080 [GRCh38] Chr8:41572598 [GRCh37] Chr8:8p11.21 |
likely benign |
NC_000008.10:g.(?_41518984)_(43054712_?)dup |
duplication |
Torsion dystonia 6 [RCV003116544]|not provided [RCV003109566] |
Chr8:41518984..43054712 [GRCh37] Chr8:8p11.21 |
uncertain significance|no classifications from unflagged records |
NM_000037.4(ANK1):c.5233G>A (p.Gly1745Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003120167] |
Chr8:41668428 [GRCh38] Chr8:41525946 [GRCh37] Chr8:8p11.21 |
likely benign |
NC_000008.10:g.(?_41525765)_(41526102_?)del |
deletion |
not provided [RCV003119111] |
Chr8:41525765..41526102 [GRCh37] Chr8:8p11.21 |
pathogenic |
NC_000008.10:g.(?_41542042)_(41615675_?)del |
deletion |
not provided [RCV003119112] |
Chr8:41542042..41615675 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.3984+10C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003120284] |
Chr8:41690464 [GRCh38] Chr8:41547982 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2296-2A>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003120304] |
Chr8:41702146 [GRCh38] Chr8:41559664 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2461+20C>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003120337] |
Chr8:41701530 [GRCh38] Chr8:41559048 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2637G>A (p.Gln879=) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003120359] |
Chr8:41698043 [GRCh38] Chr8:41555561 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2821C>T (p.Arg941Trp) |
single nucleotide variant |
not provided [RCV003123163] |
Chr8:41696502 [GRCh38] Chr8:41554020 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2296-2A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003130948] |
Chr8:41702146 [GRCh38] Chr8:41559664 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002227345] |
Chr8:41694621 [GRCh38] Chr8:41552139 [GRCh37] Chr8:8p11.21 |
likely benign|conflicting interpretations of pathogenicity |
NM_000037.4(ANK1):c.2485del (p.Ala829fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003131561] |
Chr8:41699525 [GRCh38] Chr8:41557043 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3196_3199dup (p.Ser1067fs) |
duplication |
Hereditary spherocytosis type 1 [RCV003131335] |
Chr8:41694719..41694720 [GRCh38] Chr8:41552237..41552238 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1381_1382del (p.Ala461fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003131483] |
Chr8:41716975..41716976 [GRCh38] Chr8:41574493..41574494 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2823del (p.Thr942fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003131405] |
Chr8:41696500 [GRCh38] Chr8:41554018 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3598T>C (p.Cys1200Arg) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003236685] |
Chr8:41693136 [GRCh38] Chr8:41550654 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1638C>A (p.Tyr546Ter) |
single nucleotide variant |
Hereditary spherocytosis [RCV003234637] |
Chr8:41715039 [GRCh38] Chr8:41572557 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter) |
single nucleotide variant |
ANK1-related disorder [RCV003395707]|Hereditary spherocytosis type 1 [RCV003132022] |
Chr8:41672406 [GRCh38] Chr8:41529924 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4040_4041del (p.Met1347fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003236699] |
Chr8:41690290..41690291 [GRCh38] Chr8:41547808..41547809 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.349A>G (p.Met117Val) |
single nucleotide variant |
not provided [RCV002261855] |
Chr8:41727327 [GRCh38] Chr8:41584845 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4157dup (p.Tyr1386Ter) |
duplication |
Hereditary spherocytosis type 1 [RCV002291008] |
Chr8:41688536..41688537 [GRCh38] Chr8:41546054..41546055 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.319C>T (p.Gln107Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002291020] |
Chr8:41727916 [GRCh38] Chr8:41585434 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4961A>G (p.Lys1654Arg) |
single nucleotide variant |
not provided [RCV002261848] |
Chr8:41672489 [GRCh38] Chr8:41530007 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3639_3649dup (p.Pro1217fs) |
duplication |
Hereditary spherocytosis type 1 [RCV002291048] |
Chr8:41692856..41692857 [GRCh38] Chr8:41550374..41550375 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4204C>T (p.Gln1402Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002291058] |
Chr8:41688210 [GRCh38] Chr8:41545728 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4819_4820del (p.Ser1607fs) |
microsatellite |
Hereditary spherocytosis type 1 [RCV002291063] |
Chr8:41672630..41672631 [GRCh38] Chr8:41530148..41530149 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2518G>A (p.Glu840Lys) |
single nucleotide variant |
not provided [RCV002261851] |
Chr8:41699492 [GRCh38] Chr8:41557010 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1592G>T (p.Cys531Phe) |
single nucleotide variant |
not provided [RCV002261854] |
Chr8:41715662 [GRCh38] Chr8:41573180 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5192C>G (p.Ser1731Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002291007] |
Chr8:41668469 [GRCh38] Chr8:41525987 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.5071C>T (p.Gln1691Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002291009] |
Chr8:41672379 [GRCh38] Chr8:41529897 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4642G>C (p.Asp1548His) |
single nucleotide variant |
not specified [RCV003236318] |
Chr8:41672808 [GRCh38] Chr8:41530326 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3858G>T (p.Glu1286Asp) |
single nucleotide variant |
not provided [RCV002261849] |
Chr8:41692648 [GRCh38] Chr8:41550166 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002269806] |
Chr8:41694594 [GRCh38] Chr8:41552112 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
Single allele |
complex |
8p inverted duplication/deletion syndrome [RCV002280753] |
Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21 |
pathogenic |
NM_000037.4(ANK1):c.181del (p.Val61fs) |
deletion |
Hereditary spherocytosis type 1 [RCV002283967] |
Chr8:41734018 [GRCh38] Chr8:41591536 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2389-8C>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002283990] |
Chr8:41701630 [GRCh38] Chr8:41559148 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3323T>G (p.Leu1108Arg) |
single nucleotide variant |
not provided [RCV002261850] |
Chr8:41694596 [GRCh38] Chr8:41552114 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2462-26G>A |
single nucleotide variant |
not provided [RCV002261852] |
Chr8:41699574 [GRCh38] Chr8:41557092 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1082G>A (p.Gly361Glu) |
single nucleotide variant |
not provided [RCV002291917] |
Chr8:41719686 [GRCh38] Chr8:41577204 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1305+1G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002291010] |
Chr8:41717603 [GRCh38] Chr8:41575121 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1405-9G>A |
single nucleotide variant |
ANK1-related disorder [RCV003916392]|Hereditary spherocytosis type 1 [RCV002291011] |
Chr8:41715858 [GRCh38] Chr8:41573376 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3504_3514del (p.Ser1169fs) |
deletion |
Hereditary spherocytosis type 1 [RCV002291062] |
Chr8:41693916..41693926 [GRCh38] Chr8:41551434..41551444 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.3629+1G>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002291013] |
Chr8:41693104 [GRCh38] Chr8:41550622 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.886del (p.Ala296fs) |
deletion |
Hereditary spherocytosis type 1 [RCV002291014] |
Chr8:41723148 [GRCh38] Chr8:41580666 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4783G>A (p.Ala1595Thr) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003236243] |
Chr8:41672667 [GRCh38] Chr8:41530185 [GRCh37] Chr8:8p11.21 |
uncertain significance |
Single allele |
complex |
See cases [RCV002292428] |
Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21 |
pathogenic |
NM_000037.4(ANK1):c.1602+1G>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002291012] |
Chr8:41715651 [GRCh38] Chr8:41573169 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1365T>G (p.Tyr455Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV002291029] |
Chr8:41716992 [GRCh38] Chr8:41574510 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2283del (p.Asn761fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003153016] |
Chr8:41704053 [GRCh38] Chr8:41561571 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.5026del (p.His1676fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003131131] |
Chr8:41672424 [GRCh38] Chr8:41529942 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3123del (p.Ser1042fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003144047] |
Chr8:41694796 [GRCh38] Chr8:41552314 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3493_3496dup (p.Asp1166fs) |
microsatellite |
Hereditary spherocytosis type 1 [RCV003131202] |
Chr8:41693933..41693934 [GRCh38] Chr8:41551451..41551452 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.86del (p.Leu29fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003131026] |
Chr8:41758079 [GRCh38] Chr8:41615597 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2890C>T (p.Pro964Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002837339] |
Chr8:41696433 [GRCh38] Chr8:41553951 [GRCh37] Chr8:8p11.21 |
uncertain significance |
GRCh37/hg19 8p11.21(chr8:41455579-41568924)x3 |
copy number gain |
not provided [RCV002474626] |
Chr8:41455579..41568924 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1828G>T (p.Ala610Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003148043] |
Chr8:41708948 [GRCh38] Chr8:41566466 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3859-2A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003143997] |
Chr8:41690601 [GRCh38] Chr8:41548119 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003491291]|Inborn genetic diseases [RCV002969338] |
Chr8:41694684 [GRCh38] Chr8:41552202 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3341C>T (p.Pro1114Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002754247] |
Chr8:41694089 [GRCh38] Chr8:41551607 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.129+1G>A |
single nucleotide variant |
not provided [RCV003013312] |
Chr8:41758035 [GRCh38] Chr8:41615553 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3046G>A (p.Val1016Met) |
single nucleotide variant |
not provided [RCV003095403] |
Chr8:41695246 [GRCh38] Chr8:41552764 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5365G>A (p.Ala1789Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002836708] |
Chr8:41668296 [GRCh38] Chr8:41525814 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4461C>T (p.Gly1487=) |
single nucleotide variant |
not provided [RCV002771066] |
Chr8:41684620 [GRCh38] Chr8:41542138 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3532+10G>A |
single nucleotide variant |
not provided [RCV002947673] |
Chr8:41693888 [GRCh38] Chr8:41551406 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1150G>A (p.Val384Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003140157]|Inborn genetic diseases [RCV002727473]|not provided [RCV004585004] |
Chr8:41718162 [GRCh38] Chr8:41575680 [GRCh37] Chr8:8p11.21 |
likely benign|uncertain significance |
NM_000037.4(ANK1):c.3629+4A>T |
single nucleotide variant |
not provided [RCV002843144] |
Chr8:41693101 [GRCh38] Chr8:41550619 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.390dup (p.Leu131fs) |
duplication |
not provided [RCV003034513] |
Chr8:41727285..41727286 [GRCh38] Chr8:41584803..41584804 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1242G>A (p.Met414Ile) |
single nucleotide variant |
not provided [RCV003013516] |
Chr8:41717667 [GRCh38] Chr8:41575185 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2085C>T (p.Asp695=) |
single nucleotide variant |
not provided [RCV003098976] |
Chr8:41706155 [GRCh38] Chr8:41563673 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3976C>T (p.Pro1326Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002729269] |
Chr8:41690482 [GRCh38] Chr8:41548000 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3946C>T (p.Gln1316Ter) |
single nucleotide variant |
not provided [RCV002863567] |
Chr8:41690512 [GRCh38] Chr8:41548030 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4080C>T (p.Asn1360=) |
single nucleotide variant |
not provided [RCV002861942] |
Chr8:41690251 [GRCh38] Chr8:41547769 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.4601C>T (p.Pro1534Leu) |
single nucleotide variant |
not provided [RCV002968120] |
Chr8:41672849 [GRCh38] Chr8:41530367 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3998G>A (p.Ser1333Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002860429] |
Chr8:41690333 [GRCh38] Chr8:41547851 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5317G>C (p.Ala1773Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002778179] |
Chr8:41668344 [GRCh38] Chr8:41525862 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5210C>T (p.Thr1737Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002793341] |
Chr8:41668451 [GRCh38] Chr8:41525969 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3034G>A (p.Glu1012Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002778276] |
Chr8:41695258 [GRCh38] Chr8:41552776 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2202A>G (p.Gly734=) |
single nucleotide variant |
not provided [RCV002996119] |
Chr8:41704134 [GRCh38] Chr8:41561652 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.3081C>G (p.Ser1027Arg) |
single nucleotide variant |
not provided [RCV002995967] |
Chr8:41695211 [GRCh38] Chr8:41552729 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.5311T>C (p.Ser1771Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002902721] |
Chr8:41668350 [GRCh38] Chr8:41525868 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.2095C>T (p.Arg699Trp) |
single nucleotide variant |
ANK1-related disorder [RCV003409927]|not provided [RCV002756735] |
Chr8:41706145 [GRCh38] Chr8:41563663 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2754G>A (p.Met918Ile) |
single nucleotide variant |
not provided [RCV002953399] |
Chr8:41696569 [GRCh38] Chr8:41554087 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5573C>T (p.Pro1858Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002759025] |
Chr8:41661536 [GRCh38] Chr8:41519054 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.40del (p.Thr14fs) |
deletion |
not provided [RCV002871356] |
Chr8:41758125 [GRCh38] Chr8:41615643 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4105-1G>A |
single nucleotide variant |
not provided [RCV003037293] |
Chr8:41688590 [GRCh38] Chr8:41546108 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1979A>G (p.Asn660Ser) |
single nucleotide variant |
not provided [RCV002637434] |
Chr8:41708797 [GRCh38] Chr8:41566315 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1678G>A (p.Ala560Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002738260] |
Chr8:41714999 [GRCh38] Chr8:41572517 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5197C>T (p.Gln1733Ter) |
single nucleotide variant |
not provided [RCV002884976] |
Chr8:41668464 [GRCh38] Chr8:41525982 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.395A>G (p.Glu132Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002869410] |
Chr8:41727281 [GRCh38] Chr8:41584799 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3281C>T (p.Thr1094Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002738422] |
Chr8:41694638 [GRCh38] Chr8:41552156 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1143G>C (p.Lys381Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002759131] |
Chr8:41718169 [GRCh38] Chr8:41575687 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2098-1G>A |
single nucleotide variant |
not provided [RCV003036313] |
Chr8:41704473 [GRCh38] Chr8:41561991 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.4390+1G>C |
single nucleotide variant |
not provided [RCV002736329] |
Chr8:41686151 [GRCh38] Chr8:41543669 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3656del (p.Thr1219fs) |
deletion |
not provided [RCV003019489] |
Chr8:41692850 [GRCh38] Chr8:41550368 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4133C>A (p.Thr1378Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002822506] |
Chr8:41688561 [GRCh38] Chr8:41546079 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5065G>A (p.Val1689Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002783555] |
Chr8:41672385 [GRCh38] Chr8:41529903 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.782G>A (p.Arg261Gln) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003491276]|Inborn genetic diseases [RCV002803167] |
Chr8:41723563 [GRCh38] Chr8:41581081 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4458C>G (p.Ser1486=) |
single nucleotide variant |
not provided [RCV002875629] |
Chr8:41684623 [GRCh38] Chr8:41542141 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.4747del (p.Ser1583fs) |
deletion |
not provided [RCV002894577] |
Chr8:41672703 [GRCh38] Chr8:41530221 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.3487G>A (p.Gly1163Arg) |
single nucleotide variant |
not provided [RCV002985329] |
Chr8:41693943 [GRCh38] Chr8:41551461 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.165del (p.Gly56fs) |
deletion |
not provided [RCV003059824] |
Chr8:41734034 [GRCh38] Chr8:41591552 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.5465T>A (p.Ile1822Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002853907] |
Chr8:41663672 [GRCh38] Chr8:41521190 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4336C>T (p.Gln1446Ter) |
single nucleotide variant |
not provided [RCV003056999] |
Chr8:41686206 [GRCh38] Chr8:41543724 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.202G>T (p.Glu68Ter) |
single nucleotide variant |
not provided [RCV002872695] |
Chr8:41733997 [GRCh38] Chr8:41591515 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1378A>T (p.Lys460Ter) |
single nucleotide variant |
not provided [RCV002851892] |
Chr8:41716979 [GRCh38] Chr8:41574497 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2765G>A (p.Arg922Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002708718] |
Chr8:41696558 [GRCh38] Chr8:41554076 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.628C>G (p.Leu210Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002873833] |
Chr8:41724539 [GRCh38] Chr8:41582057 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.389del (p.Leu130fs) |
deletion |
not provided [RCV003041629] |
Chr8:41727287 [GRCh38] Chr8:41584805 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1349C>T (p.Thr450Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002764402] |
Chr8:41717008 [GRCh38] Chr8:41574526 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.284G>A (p.Arg95Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002763709] |
Chr8:41727951 [GRCh38] Chr8:41585469 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5402A>C (p.Glu1801Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002804739] |
Chr8:41663735 [GRCh38] Chr8:41521253 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.292G>A (p.Val98Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002802297] |
Chr8:41727943 [GRCh38] Chr8:41585461 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4787C>G (p.Thr1596Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002765036] |
Chr8:41672663 [GRCh38] Chr8:41530181 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2855G>A (p.Arg952His) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003448473]|not provided [RCV002958231] |
Chr8:41696468 [GRCh38] Chr8:41553986 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5544+11del |
deletion |
not provided [RCV003042291] |
Chr8:41661865 [GRCh38] Chr8:41519383 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5179C>A (p.Gln1727Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002826465] |
Chr8:41668482 [GRCh38] Chr8:41526000 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.28-2A>G |
single nucleotide variant |
not provided [RCV002642372] |
Chr8:41758139 [GRCh38] Chr8:41615657 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.130-20C>T |
single nucleotide variant |
not provided [RCV002806084] |
Chr8:41734089 [GRCh38] Chr8:41591607 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.548A>G (p.Asn183Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002809263] |
Chr8:41725825 [GRCh38] Chr8:41583343 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3740A>C (p.Lys1247Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002809390] |
Chr8:41692766 [GRCh38] Chr8:41550284 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5317G>A (p.Ala1773Thr) |
single nucleotide variant |
not provided [RCV002647640] |
Chr8:41668344 [GRCh38] Chr8:41525862 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3925C>T (p.Gln1309Ter) |
single nucleotide variant |
not provided [RCV003030796] |
Chr8:41690533 [GRCh38] Chr8:41548051 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2590T>C (p.Cys864Arg) |
single nucleotide variant |
not provided [RCV003028272] |
Chr8:41698090 [GRCh38] Chr8:41555608 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4979C>T (p.Thr1660Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002672367] |
Chr8:41672471 [GRCh38] Chr8:41529989 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1660C>T (p.Leu554=) |
single nucleotide variant |
not provided [RCV003009718] |
Chr8:41715017 [GRCh38] Chr8:41572535 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.5632G>A (p.Gly1878Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002878519] |
Chr8:41661477 [GRCh38] Chr8:41518995 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.629del (p.Leu210fs) |
deletion |
not provided [RCV002833089] |
Chr8:41724538 [GRCh38] Chr8:41582056 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.814G>T (p.Glu272Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003491129]|not provided [RCV002598485] |
Chr8:41723220 [GRCh38] Chr8:41580738 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2196+12C>A |
single nucleotide variant |
not provided [RCV002717357] |
Chr8:41704362 [GRCh38] Chr8:41561880 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1685C>T (p.Pro562Leu) |
single nucleotide variant |
ANK1-related disorder [RCV003420461]|Inborn genetic diseases [RCV002897502] |
Chr8:41714992 [GRCh38] Chr8:41572510 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5458G>A (p.Gly1820Ser) |
single nucleotide variant |
not provided [RCV002646247] |
Chr8:41663679 [GRCh38] Chr8:41521197 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4501G>C (p.Asp1501His) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003138330]|not provided [RCV002671380] |
Chr8:41684580 [GRCh38] Chr8:41542098 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2883G>A (p.Thr961=) |
single nucleotide variant |
not provided [RCV002576954] |
Chr8:41696440 [GRCh38] Chr8:41553958 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1772G>A (p.Arg591Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002768859] |
Chr8:41714184 [GRCh38] Chr8:41571702 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003140190]|Inborn genetic diseases [RCV002935648] |
Chr8:41692865 [GRCh38] Chr8:41550383 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5129T>A (p.Val1710Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002987888] |
Chr8:41668532 [GRCh38] Chr8:41526050 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1383C>T (p.Ala461=) |
single nucleotide variant |
not provided [RCV002939134] |
Chr8:41716974 [GRCh38] Chr8:41574492 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.1039del (p.His347fs) |
deletion |
not provided [RCV002856632] |
Chr8:41719729 [GRCh38] Chr8:41577247 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1187C>T (p.Ser396Leu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003138435]|not provided [RCV003011318] |
Chr8:41718125 [GRCh38] Chr8:41575643 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1122del (p.Leu375fs) |
deletion |
not provided [RCV002938807] |
Chr8:41718190 [GRCh38] Chr8:41575708 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4800G>A (p.Trp1600Ter) |
single nucleotide variant |
not provided [RCV003052369] |
Chr8:41672650 [GRCh38] Chr8:41530168 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003144028] |
Chr8:41672679 [GRCh38] Chr8:41530197 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs) |
microsatellite |
Hereditary spherocytosis type 1 [RCV003144058] |
Chr8:41690564..41690565 [GRCh38] Chr8:41548082..41548083 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.4779_4780del (p.Asp1594fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003130989] |
Chr8:41672670..41672671 [GRCh38] Chr8:41530188..41530189 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003491302]|Inborn genetic diseases [RCV002724674] |
Chr8:41694699 [GRCh38] Chr8:41552217 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1744C>G (p.Leu582Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002723886] |
Chr8:41714212 [GRCh38] Chr8:41571730 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1888G>A (p.Ala630Thr) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003138521]|not provided [RCV002585164] |
Chr8:41708888 [GRCh38] Chr8:41566406 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.98G>A (p.Arg33Gln) |
single nucleotide variant |
not provided [RCV002604023] |
Chr8:41758067 [GRCh38] Chr8:41615585 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1438A>G (p.Ile480Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003140123]|not provided [RCV002612120] |
Chr8:41715816 [GRCh38] Chr8:41573334 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.142G>A (p.Gly48Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002945049] |
Chr8:41734057 [GRCh38] Chr8:41591575 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4387_4390del (p.Asn1463fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003132023] |
Chr8:41686152..41686155 [GRCh38] Chr8:41543670..41543673 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4886del (p.Asp1629fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003131515] |
Chr8:41672564 [GRCh38] Chr8:41530082 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.4092_4101del (p.Pro1365fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003131467] |
Chr8:41690230..41690239 [GRCh38] Chr8:41547748..41547757 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.5096+2T>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003133690] |
Chr8:41672352 [GRCh38] Chr8:41529870 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.5323_5324del (p.Arg1775fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003133711] |
Chr8:41668337..41668338 [GRCh38] Chr8:41525855..41525856 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.4117G>A (p.Glu1373Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003194286] |
Chr8:41688577 [GRCh38] Chr8:41546095 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.557del (p.Thr186fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003135354] |
Chr8:41725816 [GRCh38] Chr8:41583334 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3123dup (p.Ser1042fs) |
duplication |
Hereditary spherocytosis type 1 [RCV003133876] |
Chr8:41694795..41694796 [GRCh38] Chr8:41552313..41552314 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2728C>A (p.His910Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003185866] |
Chr8:41696683 [GRCh38] Chr8:41554201 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4529del (p.Gln1510fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003131547] |
Chr8:41684552 [GRCh38] Chr8:41542070 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1779_1800+1dup |
duplication |
Hereditary spherocytosis type 1 [RCV003133778] |
Chr8:41714154..41714155 [GRCh38] Chr8:41571672..41571673 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1717dup (p.Leu573fs) |
duplication |
Hereditary spherocytosis type 1 [RCV003135000] |
Chr8:41714238..41714239 [GRCh38] Chr8:41571756..41571757 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2023dup (p.Val675fs) |
duplication |
Hereditary spherocytosis type 1 [RCV003133748] |
Chr8:41706216..41706217 [GRCh38] Chr8:41563734..41563735 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.612+1G>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003135640] |
Chr8:41725760 [GRCh38] Chr8:41583278 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1786C>A (p.His596Asn) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141393] |
Chr8:41714170 [GRCh38] Chr8:41571688 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141405] |
Chr8:41684654 [GRCh38] Chr8:41542172 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1972C>T (p.Gln658Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003133904] |
Chr8:41708804 [GRCh38] Chr8:41566322 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003147255]|not provided [RCV003575043] |
Chr8:41708876 [GRCh38] Chr8:41566394 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003143448] |
Chr8:41693184 [GRCh38] Chr8:41550702 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003134995] |
Chr8:41695219 [GRCh38] Chr8:41552737 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003135005]|Inborn genetic diseases [RCV004636717]|not provided [RCV003561183] |
Chr8:41692752 [GRCh38] Chr8:41550270 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.5097-33G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003135006] |
Chr8:41668597 [GRCh38] Chr8:41526115 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4267del (p.Arg1423fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003135305] |
Chr8:41686275 [GRCh38] Chr8:41543793 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.253G>T (p.Ala85Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141372] |
Chr8:41727982 [GRCh38] Chr8:41585500 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3857A>G (p.Glu1286Gly) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141373] |
Chr8:41692649 [GRCh38] Chr8:41550167 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5333G>A (p.Arg1778Lys) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141374] |
Chr8:41668328 [GRCh38] Chr8:41525846 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.253G>A (p.Ala85Thr) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141375] |
Chr8:41727982 [GRCh38] Chr8:41585500 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2572G>C (p.Ala858Pro) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141376] |
Chr8:41698108 [GRCh38] Chr8:41555626 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3727G>A (p.Val1243Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141377] |
Chr8:41692779 [GRCh38] Chr8:41550297 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141378]|not provided [RCV003548988] |
Chr8:41692677 [GRCh38] Chr8:41550195 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141379]|Inborn genetic diseases [RCV003164851] |
Chr8:41668535 [GRCh38] Chr8:41526053 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.310G>A (p.Val104Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141380] |
Chr8:41727925 [GRCh38] Chr8:41585443 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.283C>T (p.Arg95Trp) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141381] |
Chr8:41727952 [GRCh38] Chr8:41585470 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5189A>T (p.His1730Leu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141382] |
Chr8:41668472 [GRCh38] Chr8:41525990 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.935C>T (p.Ala312Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141383] |
Chr8:41719833 [GRCh38] Chr8:41577351 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.242C>A (p.Ala81Asp) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141384] |
Chr8:41727993 [GRCh38] Chr8:41585511 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del) |
deletion |
Hereditary spherocytosis type 1 [RCV003141385] |
Chr8:41672739..41672756 [GRCh38] Chr8:41530257..41530274 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3049T>G (p.Trp1017Gly) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141386] |
Chr8:41695243 [GRCh38] Chr8:41552761 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.659A>G (p.Asn220Ser) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141387]|Inborn genetic diseases [RCV003358149] |
Chr8:41724508 [GRCh38] Chr8:41582026 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1910C>T (p.Thr637Met) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141388] |
Chr8:41708866 [GRCh38] Chr8:41566384 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1435C>T (p.Arg479Cys) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141389]|Inborn genetic diseases [RCV003274344] |
Chr8:41715819 [GRCh38] Chr8:41573337 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.958T>C (p.Cys320Arg) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141390] |
Chr8:41719810 [GRCh38] Chr8:41577328 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.761T>C (p.Met254Thr) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141391] |
Chr8:41723584 [GRCh38] Chr8:41581102 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1303G>A (p.Val435Met) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141392] |
Chr8:41717606 [GRCh38] Chr8:41575124 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141395] |
Chr8:41690301 [GRCh38] Chr8:41547819 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3387C>A (p.Ser1129Arg) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141396] |
Chr8:41694043 [GRCh38] Chr8:41551561 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.711+3A>C |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141397] |
Chr8:41724453 [GRCh38] Chr8:41581971 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5076dup (p.Thr1693fs) |
duplication |
Hereditary spherocytosis type 1 [RCV003135484] |
Chr8:41672373..41672374 [GRCh38] Chr8:41529891..41529892 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3533-2A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003135524] |
Chr8:41693203 [GRCh38] Chr8:41550721 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3395T>A (p.Val1132Asp) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141399]|not provided [RCV003720770] |
Chr8:41694035 [GRCh38] Chr8:41551553 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2971G>A (p.Val991Met) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141400] |
Chr8:41695321 [GRCh38] Chr8:41552839 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.247C>T (p.His83Tyr) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141401] |
Chr8:41727988 [GRCh38] Chr8:41585506 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile) |
single nucleotide variant |
Hemolytic anemia [RCV003234602]|Hereditary spherocytosis type 1 [RCV003141402] |
Chr8:41668289 [GRCh38] Chr8:41525807 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141403] |
Chr8:41661503 [GRCh38] Chr8:41519021 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1540G>T (p.Gly514Cys) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141404] |
Chr8:41715714 [GRCh38] Chr8:41573232 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.964C>T (p.Arg322Trp) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141406] |
Chr8:41719804 [GRCh38] Chr8:41577322 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.634A>G (p.Ile212Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141408] |
Chr8:41724533 [GRCh38] Chr8:41582051 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3946C>G (p.Gln1316Glu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141409] |
Chr8:41690512 [GRCh38] Chr8:41548030 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141410] |
Chr8:41692743 [GRCh38] Chr8:41550261 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.806C>T (p.Thr269Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141411] |
Chr8:41723539 [GRCh38] Chr8:41581057 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.749G>T (p.Gly250Val) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141412] |
Chr8:41723596 [GRCh38] Chr8:41581114 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.265G>A (p.Gly89Arg) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141413] |
Chr8:41727970 [GRCh38] Chr8:41585488 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3019G>A (p.Val1007Met) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003141394] |
Chr8:41695273 [GRCh38] Chr8:41552791 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1585C>T (p.Gln529Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003135414] |
Chr8:41715669 [GRCh38] Chr8:41573187 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.441_466del (p.Pro147_Leu148insTer) |
deletion |
Hereditary spherocytosis type 1 [RCV003132667] |
Chr8:41725907..41725932 [GRCh38] Chr8:41583425..41583450 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.2320_2350del (p.Ala774fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003133660] |
Chr8:41702090..41702120 [GRCh38] Chr8:41559608..41559638 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003133983] |
Chr8:41692729 [GRCh38] Chr8:41550247 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.4184-2A>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003134014] |
Chr8:41688232 [GRCh38] Chr8:41545750 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3630-1G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003134029] |
Chr8:41692877 [GRCh38] Chr8:41550395 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.4862T>A (p.Val1621Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003175536] |
Chr8:41672588 [GRCh38] Chr8:41530106 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.4621T>C (p.Trp1541Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003304016] |
Chr8:41672829 [GRCh38] Chr8:41530347 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1488dup (p.Asn497fs) |
duplication |
Hereditary spherocytosis type 1 [RCV003134132]|not provided [RCV003699030] |
Chr8:41715765..41715766 [GRCh38] Chr8:41573283..41573284 [GRCh37] Chr8:8p11.21 |
pathogenic|likely pathogenic |
NM_000037.4(ANK1):c.4259-1G>T |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003134090]|not provided [RCV003481451] |
Chr8:41686284 [GRCh38] Chr8:41543802 [GRCh37] Chr8:8p11.21 |
likely pathogenic|uncertain significance |
NM_000037.4(ANK1):c.898G>A (p.Ala300Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003203393] |
Chr8:41723136 [GRCh38] Chr8:41580654 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1228G>A (p.Val410Met) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003992749]|Inborn genetic diseases [RCV003190513] |
Chr8:41717681 [GRCh38] Chr8:41575199 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1709del (p.Leu570fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003131191] |
Chr8:41714247 [GRCh38] Chr8:41571765 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1784dup (p.His596fs) |
duplication |
Hereditary spherocytosis type 1 [RCV003135744] |
Chr8:41714171..41714172 [GRCh38] Chr8:41571689..41571690 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3704C>T (p.Ala1235Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003208290] |
Chr8:41692802 [GRCh38] Chr8:41550320 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2839A>C (p.Thr947Pro) |
single nucleotide variant |
not specified [RCV003322481] |
Chr8:41696484 [GRCh38] Chr8:41554002 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2473A>G (p.Ile825Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003305180] |
Chr8:41699537 [GRCh38] Chr8:41557055 [GRCh37] Chr8:8p11.21 |
likely benign |
NM_000037.4(ANK1):c.4820C>G (p.Ser1607Ter) |
single nucleotide variant |
not provided [RCV003322475] |
Chr8:41672630 [GRCh38] Chr8:41530148 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.5096+1G>A |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003330267] |
Chr8:41672353 [GRCh38] Chr8:41529871 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3 |
copy number gain |
See cases [RCV003329560] |
Chr8:36763176..50929707 [GRCh37] Chr8:8p11.23-q11.21 |
pathogenic |
NM_000037.4(ANK1):c.353C>A (p.Ala118Glu) |
single nucleotide variant |
not provided [RCV003329988] |
Chr8:41727323 [GRCh38] Chr8:41584841 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2447T>A (p.Val816Asp) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003340754] |
Chr8:41701564 [GRCh38] Chr8:41559082 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1154G>A (p.Arg385His) |
single nucleotide variant |
Inborn genetic diseases [RCV003379239] |
Chr8:41718158 [GRCh38] Chr8:41575676 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3581T>C (p.Leu1194Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003354665] |
Chr8:41693153 [GRCh38] Chr8:41550671 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2914G>A (p.Ala972Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003351987] |
Chr8:41696409 [GRCh38] Chr8:41553927 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1193A>T (p.Asp398Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003385421] |
Chr8:41718119 [GRCh38] Chr8:41575637 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1376del (p.Asn459fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003333334] |
Chr8:41716981 [GRCh38] Chr8:41574499 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.3151del (p.Val1051fs) |
deletion |
Hereditary spherocytosis type 1 [RCV003448726] |
Chr8:41694768 [GRCh38] Chr8:41552286 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1064A>G (p.Lys355Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003369674] |
Chr8:41719704 [GRCh38] Chr8:41577222 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3769C>T (p.Arg1257Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003384818] |
Chr8:41692737 [GRCh38] Chr8:41550255 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3106dup (p.Met1036fs) |
duplication |
not provided [RCV003569410] |
Chr8:41695185..41695186 [GRCh38] Chr8:41552703..41552704 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.1801-3C>G |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003490457] |
Chr8:41708978 [GRCh38] Chr8:41566496 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.694G>A (p.Val232Ile) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003490460] |
Chr8:41724473 [GRCh38] Chr8:41581991 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2221del (p.Ala741fs) |
deletion |
not provided [RCV003569866] |
Chr8:41704115 [GRCh38] Chr8:41561633 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.2220G>C (p.Gln740His) |
single nucleotide variant |
not provided [RCV003569864] |
Chr8:41704116 [GRCh38] Chr8:41561634 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.1361A>C (p.Lys454Thr) |
single nucleotide variant |
not provided [RCV003569919] |
Chr8:41716996 [GRCh38] Chr8:41574514 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3037_3038del (p.Asn1013fs) |
deletion |
not provided [RCV003570129] |
Chr8:41695254..41695255 [GRCh38] Chr8:41552772..41552773 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.4376del (p.Gly1459fs) |
deletion |
not provided [RCV003457535] |
Chr8:41686166 [GRCh38] Chr8:41543684 [GRCh37] Chr8:8p11.21 |
pathogenic |
NM_000037.4(ANK1):c.965G>A (p.Arg322Gln) |
single nucleotide variant |
not provided [RCV003570691] |
Chr8:41719803 [GRCh38] Chr8:41577321 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2539G>T (p.Val847Leu) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003490451]|Inborn genetic diseases [RCV004364863]|not provided [RCV003779235] |
Chr8:41699471 [GRCh38] Chr8:41556989 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.2407C>T (p.Arg803Ter) |
single nucleotide variant |
not provided [RCV003480196] |
Chr8:41701604 [GRCh38] Chr8:41559122 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.4505G>A (p.Arg1502His) |
single nucleotide variant |
not provided [RCV003481876] |
Chr8:41684576 [GRCh38] Chr8:41542094 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.72C>G (p.Asn24Lys) |
single nucleotide variant |
not provided [RCV003569345] |
Chr8:41758093 [GRCh38] Chr8:41615611 [GRCh37] Chr8:8p11.21 |
uncertain significance |
NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter) |
single nucleotide variant |
Hereditary spherocytosis type 1 [RCV003489295] |
Chr8:41695242 [GRCh38] Chr8:41552760 [GRCh37] Chr8:8p11.21 |
likely pathogenic |
NM_000037.4(ANK1):c.1282dup (p.Ala428fs) |
duplication |
Hereditary spherocytosis type 1 [RCV003489300] |
Chr8:41717626..41717627 [GRCh38] Chr8:41575144..41575145 [GRCh37] Ch |