ANK1 (ankyrin 1) - Rat Genome Database

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Gene: ANK1 (ankyrin 1) Homo sapiens
Analyze
Symbol: ANK1
Name: ankyrin 1
RGD ID: 1320055
HGNC Page HGNC:492
Description: Enables cytoskeletal anchor activity; enzyme binding activity; and spectrin binding activity. Involved in endoplasmic reticulum to Golgi vesicle-mediated transport and protein localization to plasma membrane. Located in cytoplasmic side of plasma membrane and spectrin-associated cytoskeleton. Part of ankyrin-1 complex. Implicated in anemia; hereditary spherocytosis; and hereditary spherocytosis type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ANK; ANK-1; ankyrin 1, erythrocytic; ankyrin-1; ankyrin-R; erythrocyte ankyrin; SPH1; SPH2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38841,653,225 - 41,896,741 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl841,653,220 - 41,896,741 (-)EnsemblGRCh38hg38GRCh38
GRCh37841,510,744 - 41,754,259 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36841,629,901 - 41,774,297 (-)NCBINCBI36Build 36hg18NCBI36
Build 34841,632,000 - 41,641,949NCBI
Celera840,459,268 - 40,702,528 (-)NCBICelera
Cytogenetic Map8p11.21NCBI
HuRef840,038,471 - 40,281,660 (-)NCBIHuRef
CHM1_1841,558,937 - 41,802,421 (-)NCBICHM1_1
T2T-CHM13v2.0841,926,848 - 42,170,259 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2-butoxyethanol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aconitine  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-hexachlorocyclohexane  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
corosolic acid  (EXP)
DDE  (EXP)
decabromodiphenyl ether  (EXP,ISO)
dexamethasone  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
malathion  (EXP)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
methapyrilene  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (EXP,ISO)
testosterone enanthate  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal reticulocyte morphology  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Anemia  (IAGP)
Anosmia  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Blepharophimosis  (IAGP)
Childhood onset  (IAGP)
Chills  (IAGP)
Cholelithiasis  (IAGP)
Cryptorchidism  (IAGP)
Depressed nasal bridge  (IAGP)
Epicanthus  (IAGP)
Extramedullary hematopoiesis  (IAGP)
Feeding difficulties  (IAGP)
Fever  (IAGP)
Global developmental delay  (IAGP)
Gout  (IAGP)
Growth delay  (IAGP)
Hemolytic anemia  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
Hyperbilirubinemia  (IAGP)
Hypercoagulability  (IAGP)
Hypertelorism  (IAGP)
Hypofibrinogenemia  (IAGP)
Hypogonadism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Increased mean corpuscular hemoglobin concentration  (IAGP)
Increased red cell osmotic fragility  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Jaundice  (IAGP)
Juvenile onset  (IAGP)
Maculopapular exanthema  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Mitral valve prolapse  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Neonatal onset  (IAGP)
Nystagmus  (IAGP)
Pallor  (IAGP)
Patent ductus arteriosus  (IAGP)
Preauricular pit  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Reticulocytosis  (IAGP)
Retinal dystrophy  (IAGP)
Sacral dimple  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Skin ulcer  (IAGP)
Spherocytosis  (IAGP)
Splenomegaly  (IAGP)
Spontaneous hemolytic crises  (IAGP)
Supernumerary ribs  (IAGP)
Talipes equinovarus  (IAGP)
Upslanted palpebral fissure  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Normoblastosis, a murine model for ankyrin-deficient hemolytic anemia, is caused by a hypomorphic mutation in the erythroid ankyrin gene Ank1. Birkenmeier CS, etal., Hematol J. 2003;4(6):445-9.
2. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Eber SW, etal., Nat Genet. 1996 Jun;13(2):214-8.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Distribution of ankyrin isoforms and their proteolysis after ischemia and reperfusion in rat brain. Harada K, etal., J Neurochem. 1997 Jul;69(1):371-6.
5. A deep intronic mutation in the ankyrin-1 gene causes diminished protein expression resulting in hemolytic anemia in mice. Huang H, etal., G3 (Bethesda). 2013 Oct 3;3(10):1687-95. doi: 10.1534/g3.113.007013.
6. A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis. Hughes MR, etal., Exp Hematol. 2011 Mar;39(3):305-20, 320.e1-2. doi: 10.1016/j.exphem.2010.12.009. Epub 2010 Dec 28.
7. Ankyrin gene mutations in japanese patients with hereditary spherocytosis. Nakanishi H, etal., Int J Hematol. 2001 Jan;73(1):54-63.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio. Randon J, etal., Br J Haematol. 1997 Mar;96(3):500-6.
10. Novel roles for erythroid Ankyrin-1 revealed through an ENU-induced null mouse mutant. Rank G, etal., Blood. 2009 Apr 2;113(14):3352-62. doi: 10.1182/blood-2008-08-172841. Epub 2009 Jan 28.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Proteolysis of erythrocyte-type and brain-type ankyrins in rat heart after postischemic reperfusion. Yoshida K and Harada K, J Biochem (Tokyo). 1997 Aug;122(2):279-85.
15. Suppression of hepcidin expression and iron overload mediate Salmonella susceptibility in ankyrin 1 ENU-induced mutant. Yuki KE, etal., PLoS One. 2013;8(2):e55331. doi: 10.1371/journal.pone.0055331. Epub 2013 Feb 4.
Additional References at PubMed
PMID:379653   PMID:492324   PMID:1689849   PMID:1833445   PMID:2137557   PMID:2141335   PMID:2968981   PMID:2970468   PMID:2971657   PMID:6449514   PMID:7505012   PMID:7629097  
PMID:8125298   PMID:8159688   PMID:8227202   PMID:8385102   PMID:8681137   PMID:8703812   PMID:9024692   PMID:9235914   PMID:9430667   PMID:9519902   PMID:9587054   PMID:9628825  
PMID:9804856   PMID:10893266   PMID:10910934   PMID:11222639   PMID:11427698   PMID:12019270   PMID:12130521   PMID:12354383   PMID:12409278   PMID:12444090   PMID:12456646   PMID:12477932  
PMID:12527750   PMID:12543979   PMID:12631729   PMID:12719424   PMID:15040428   PMID:15051494   PMID:15489334   PMID:15929114   PMID:16580865   PMID:16597699   PMID:16718373   PMID:16762928  
PMID:16962094   PMID:17128827   PMID:17207965   PMID:17520478   PMID:17716929   PMID:17720975   PMID:18768923   PMID:18987618   PMID:20379614   PMID:20479128   PMID:20858683   PMID:21071415  
PMID:21099109   PMID:21177872   PMID:21493712   PMID:21873635   PMID:22348230   PMID:22424883   PMID:22456796   PMID:22573887   PMID:22968456   PMID:23013433   PMID:23457408   PMID:24509480  
PMID:24647736   PMID:24758720   PMID:24903897   PMID:25129075   PMID:25129077   PMID:25277244   PMID:26107955   PMID:26611832   PMID:26830532   PMID:27054339   PMID:27121283   PMID:27144336  
PMID:27742708   PMID:27989623   PMID:28487373   PMID:28514442   PMID:28694211   PMID:28700589   PMID:28965852   PMID:29099659   PMID:29149168   PMID:29507755   PMID:29676528   PMID:30110629  
PMID:30439595   PMID:30463901   PMID:30836122   PMID:31014431   PMID:31016877   PMID:31067453   PMID:31125575   PMID:31598945   PMID:31669644   PMID:32133777   PMID:32296183   PMID:33187473  
PMID:33410423   PMID:33620149   PMID:33961781   PMID:34349018   PMID:35560067   PMID:35631165   PMID:35835865   PMID:36215168   PMID:36336297   PMID:36598564   PMID:36647015   PMID:36774506  
PMID:37341850   PMID:37433992   PMID:38862513  


Genomics

Comparative Map Data
ANK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38841,653,225 - 41,896,741 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl841,653,220 - 41,896,741 (-)EnsemblGRCh38hg38GRCh38
GRCh37841,510,744 - 41,754,259 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36841,629,901 - 41,774,297 (-)NCBINCBI36Build 36hg18NCBI36
Build 34841,632,000 - 41,641,949NCBI
Celera840,459,268 - 40,702,528 (-)NCBICelera
Cytogenetic Map8p11.21NCBI
HuRef840,038,471 - 40,281,660 (-)NCBIHuRef
CHM1_1841,558,937 - 41,802,421 (-)NCBICHM1_1
T2T-CHM13v2.0841,926,848 - 42,170,259 (-)NCBIT2T-CHM13v2.0
Ank1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39823,464,852 - 23,640,517 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl823,464,860 - 23,640,513 (+)EnsemblGRCm39 Ensembl
GRCm38822,974,836 - 23,150,501 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl822,974,844 - 23,150,497 (+)EnsemblGRCm38mm10GRCm38
MGSCv37824,085,354 - 24,260,968 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36824,523,820 - 24,616,041 (+)NCBIMGSCv36mm8
Celera824,465,487 - 24,646,749 (+)NCBICelera
Cytogenetic Map8A2NCBI
cM Map811.42NCBI
Ank1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81675,578,824 - 75,757,464 (-)NCBIGRCr8
mRatBN7.21668,876,294 - 69,054,963 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1668,877,504 - 69,054,759 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1674,153,929 - 74,328,599 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01677,581,598 - 77,760,634 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01672,830,782 - 73,009,777 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01673,681,422 - 73,912,605 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1673,681,422 - 73,827,488 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01673,397,821 - 73,459,822 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01673,314,002 - 73,331,197 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41673,333,564 - 73,437,926 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11673,333,832 - 73,438,435 (-)NCBI
Celera1666,776,909 - 66,863,441 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
Ank1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555361,049,407 - 1,237,943 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555361,049,325 - 1,237,943 (+)NCBIChiLan1.0ChiLan1.0
ANK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2760,107,644 - 60,348,473 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1835,823,073 - 36,065,663 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0840,897,879 - 41,140,290 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1838,346,503 - 38,588,620 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl838,346,503 - 38,588,549 (-)Ensemblpanpan1.1panPan2
ANK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11623,858,299 - 23,966,181 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1623,766,193 - 23,964,226 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1624,254,185 - 24,469,762 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01625,498,990 - 25,712,885 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1625,499,092 - 25,712,882 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11623,869,170 - 24,084,432 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01624,430,879 - 24,646,688 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01624,481,503 - 24,697,954 (+)NCBIUU_Cfam_GSD_1.0
Ank1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494346,781,927 - 46,988,338 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936785738,317 - 942,381 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936785738,323 - 944,734 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1710,779,055 - 10,985,191 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11710,752,258 - 10,985,129 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21712,184,513 - 12,419,119 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ANK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1839,627,766 - 39,871,329 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl839,626,981 - 39,871,151 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660521,919,618 - 2,190,241 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ank1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247801,429,403 - 1,617,743 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247801,429,415 - 1,619,010 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ANK1
932 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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