SLC39A4 (solute carrier family 39 member 4) - Rat Genome Database

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Gene: SLC39A4 (solute carrier family 39 member 4) Homo sapiens
Analyze
Symbol: SLC39A4
Name: solute carrier family 39 member 4
RGD ID: 1315470
HGNC Page HGNC:17129
Description: Enables several functions, including zinc ion binding activity; zinc ion sensor activity; and zinc ion sequestering activity. Involved in zinc ion transmembrane transport. Located in plasma membrane and recycling endosome membrane. Implicated in acrodermatitis enteropathica.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acrodermatitis enteropathica, zinc-deficiency type; AEZ; AWMS2; FLJ20327; MGC74741; solute carrier family 39 (zinc transporter), member 4; zinc transporter 4; zinc transporter ZIP4; ZIP-4; ZIP4; zrt- and Irt-like protein 4; ZRT/IRT-like protein 4
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
GRCh388144,412,414 - 144,416,844 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,409,742 - 144,416,844 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,637,798 - 145,642,228 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,608,606 - 145,613,081 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,608,606 - 145,613,081NCBI
Celera8141,812,232 - 141,816,707 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,751,031 - 140,755,512 (-)NCBIHuRef
CHM1_18145,676,089 - 145,680,570 (-)NCBICHM1_1
T2T-CHM13v2.08145,582,227 - 145,586,657 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitrophenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
actinomycin D  (ISO)
ammonium chloride  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cycloheximide  (ISO)
cyclosporin A  (EXP)
DDE  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
inulin  (ISO)
irinotecan  (ISO)
lead diacetate  (ISO)
leflunomide  (ISO)
Licochalcone B  (EXP)
methimazole  (ISO)
methyl beta-cyclodextrin  (EXP)
methyl methanesulfonate  (EXP)
N(4)-hydroxycytidine  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
nimesulide  (ISO)
oxycodone  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
rotenone  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sucrose  (EXP)
tetrachloromethane  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (EXP,ISO)
zinc dichloride  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Kury S, etal., Nat Genet. 2002 Jul;31(3):239-40. Epub 2002 Jun 17.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11254458   PMID:12032886   PMID:12477932   PMID:12659941   PMID:12787121   PMID:12801924   PMID:12955721   PMID:14612438   PMID:14702039   PMID:14709598   PMID:15489334   PMID:16344560  
PMID:16682017   PMID:16889938   PMID:16986515   PMID:17202136   PMID:17573886   PMID:18003899   PMID:18328205   PMID:18684156   PMID:18936158   PMID:19021533   PMID:19370757   PMID:19416242  
PMID:19416256   PMID:19755388   PMID:20023433   PMID:20160059   PMID:20300938   PMID:20463217   PMID:20471814   PMID:20587610   PMID:20957146   PMID:20970119   PMID:21165302   PMID:21462106  
PMID:21603979   PMID:21803616   PMID:21873635   PMID:21906148   PMID:22242765   PMID:23228939   PMID:23331012   PMID:23376485   PMID:23595627   PMID:23857777   PMID:24553114   PMID:24586184  
PMID:25391167   PMID:25882556   PMID:25921144   PMID:25971965   PMID:26186194   PMID:26305676   PMID:26351177   PMID:26871637   PMID:27321477   PMID:27940220   PMID:28017725   PMID:28188634  
PMID:28298427   PMID:28345660   PMID:28514442   PMID:28775359   PMID:29615456   PMID:29895370   PMID:30007115   PMID:30793391   PMID:30874431   PMID:31164399   PMID:31383854   PMID:31711924  
PMID:31914589   PMID:31979155   PMID:31987033   PMID:32348750   PMID:33631610   PMID:33961781   PMID:36473915   PMID:37700277   PMID:38217540  


Genomics

Comparative Map Data
SLC39A4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,412,414 - 144,416,844 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,409,742 - 144,416,844 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,637,798 - 145,642,228 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,608,606 - 145,613,081 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,608,606 - 145,613,081NCBI
Celera8141,812,232 - 141,816,707 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,751,031 - 140,755,512 (-)NCBIHuRef
CHM1_18145,676,089 - 145,680,570 (-)NCBICHM1_1
T2T-CHM13v2.08145,582,227 - 145,586,657 (-)NCBIT2T-CHM13v2.0
Slc39a4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,496,583 - 76,501,579 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,496,583 - 76,501,584 (-)EnsemblGRCm39 Ensembl
GRCm381576,612,383 - 76,618,506 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,612,383 - 76,617,384 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,442,813 - 76,447,282 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361576,439,638 - 76,444,107 (-)NCBIMGSCv36mm8
Celera1578,105,998 - 78,110,467 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.16NCBI
Slc39a4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87110,214,017 - 110,218,202 (-)NCBIGRCr8
mRatBN7.27108,333,368 - 108,337,553 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7108,333,381 - 108,337,553 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7110,075,214 - 110,079,418 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07112,298,788 - 112,302,992 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07112,259,628 - 112,263,832 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07117,675,718 - 117,682,586 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,675,720 - 117,680,004 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,663,813 - 117,667,986 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,661,925 - 114,666,098 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17114,696,147 - 114,700,327 (-)NCBI
Celera7104,683,583 - 104,687,756 (-)NCBICelera
Cytogenetic Map7q34NCBI
Slc39a4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,040,877 - 3,046,250 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,041,316 - 3,047,419 (-)NCBIChiLan1.0ChiLan1.0
SLC39A4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27161,903,143 - 161,908,026 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18137,432,188 - 137,437,027 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08141,178,792 - 141,183,565 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18144,169,089 - 144,173,517 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,169,089 - 144,173,517 (-)Ensemblpanpan1.1panPan2
SLC39A4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,833,073 - 37,838,304 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,833,156 - 37,838,522 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,794,803 - 37,799,894 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,307,751 - 38,312,842 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1338,308,739 - 38,312,970 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11337,999,570 - 38,004,661 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01338,108,215 - 38,113,309 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01338,584,583 - 38,589,678 (-)NCBIUU_Cfam_GSD_1.0
Slc39a4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303411,386 - 416,321 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364707,838,030 - 7,842,262 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364707,836,612 - 7,842,262 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC39A4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4372,660 - 378,516 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14372,681 - 378,519 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24464,005 - 469,123 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC39A4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,622,100 - 138,626,749 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,622,224 - 138,626,376 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660391,229,126 - 1,234,212 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc39a4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473512,434,169 - 12,438,510 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473512,433,024 - 12,438,406 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC39A4
840 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_130849.4(SLC39A4):c.1224_1228del (p.Gly409fs) deletion Hereditary acrodermatitis enteropathica [RCV000003712] Chr8:144414017..144414021 [GRCh38]
Chr8:145639401..145639405 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.970_973del (p.Ser324fs) deletion Hereditary acrodermatitis enteropathica [RCV000003713] Chr8:144414728..144414731 [GRCh38]
Chr8:145640112..145640115 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.475-19G>A single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000003714] Chr8:144415438 [GRCh38]
Chr8:145640822 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000003715]|SLC39A4-related disorder [RCV003415640]|not provided [RCV001042457] Chr8:144415295 [GRCh38]
Chr8:145640679 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_130849.4(SLC39A4):c.1576G>A (p.Gly526Arg) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000003716] Chr8:144413288 [GRCh38]
Chr8:145638672 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000003717]|not provided [RCV001851627] Chr8:144414291 [GRCh38]
Chr8:145639675 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_130849.4(SLC39A4):c.318C>A (p.Asn106Lys) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000003718] Chr8:144415966 [GRCh38]
Chr8:145641350 [GRCh37]
Chr8:8q24.3		 pathogenic
SLC39A4, 2-KB DEL, UPSTREAM REGION deletion Hereditary acrodermatitis enteropathica [RCV000003719] Chr8:8q24.3 pathogenic
NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000003720] Chr8:144414422 [GRCh38]
Chr8:145639806 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1018_1070dup (p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer) duplication Hereditary acrodermatitis enteropathica [RCV000003721] Chr8:144414340..144414341 [GRCh38]
Chr8:145639724..145639725 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000003722]|not provided [RCV002512719] Chr8:144416001 [GRCh38]
Chr8:145641385 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_130849.4(SLC39A4):c.909G>C (p.Gln303His) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000003723] Chr8:144414792 [GRCh38]
Chr8:145640176 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.193-115G>A single nucleotide variant not provided [RCV000578673] Chr8:144416206 [GRCh38]
Chr8:145641590 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 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 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3 copy number gain See cases [RCV000052189] Chr8:144392063..144458958 [GRCh38]
Chr8:145617263..145684341 [GRCh37]
Chr8:145588071..145655149 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1864C>T (p.Leu622=) single nucleotide variant not provided [RCV003732149] Chr8:144412618 [GRCh38]
Chr8:145638002 [GRCh37]
Chr8:145608810 [NCBI36]
Chr8:8q24.3		 likely benign|not provided
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_130849.4(SLC39A4):c.1681C>T (p.Leu561=) single nucleotide variant not provided [RCV001412341] Chr8:144412893 [GRCh38]
Chr8:145638277 [GRCh37]
Chr8:8q24.3		 likely benign
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
NM_130849.4(SLC39A4):c.989_993del (p.Gly330fs) deletion not provided [RCV001290757] Chr8:144414418..144414422 [GRCh38]
Chr8:145639802..145639806 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3		 benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 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 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3		 likely benign
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely 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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 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 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3 copy number gain See cases [RCV000239970] Chr8:145603153..145811230 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000269123]|not provided [RCV000430233] Chr8:144414851 [GRCh38]
Chr8:145640235 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.-21T>G single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000372301]|not provided [RCV004712534] Chr8:144416810 [GRCh38]
Chr8:145642194 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.276C>T (p.Tyr92=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000397969]|not provided [RCV001510559] Chr8:144416008 [GRCh38]
Chr8:145641392 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.364C>T (p.His122Tyr) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000305254] Chr8:144415920 [GRCh38]
Chr8:145641304 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000305246]|not provided [RCV001520476]|not specified [RCV000454515] Chr8:144414342 [GRCh38]
Chr8:144414342..144414343 [GRCh38]
Chr8:145639726 [GRCh37]
Chr8:145639726..145639727 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.192+5C>A single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000271224]|not provided [RCV000947146] Chr8:144416593 [GRCh38]
Chr8:145641977 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000306519]|not provided [RCV000882616] Chr8:144416027 [GRCh38]
Chr8:145641411 [GRCh37]
Chr8:8q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130849.4(SLC39A4):c.805-12G>T single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000326496]|not provided [RCV003574763] Chr8:144414908 [GRCh38]
Chr8:145640292 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_130849.4(SLC39A4):c.948C>T (p.Pro316=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000327542]|not provided [RCV000953603] Chr8:144414753 [GRCh38]
Chr8:145640137 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.1426G>C (p.Glu476Gln) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000289476] Chr8:144413561 [GRCh38]
Chr8:145638945 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1426G>A (p.Glu476Lys) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000351467]|Inborn genetic diseases [RCV002523649]|SLC39A4-related disorder [RCV003401377]|not provided [RCV004696057] Chr8:144413561 [GRCh38]
Chr8:145638945 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.803C>T (p.Thr268Met) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000330178] Chr8:144414975 [GRCh38]
Chr8:145640359 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.172G>A (p.Ala58Thr) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000330943]|not provided [RCV001515874]|not specified [RCV000454589] Chr8:144416618 [GRCh38]
Chr8:145642002 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1126G>A (p.Ala376Thr) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000354115]|not provided [RCV000914850] Chr8:144414285 [GRCh38]
Chr8:145639669 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1495A>G (p.Met499Val) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000381628]|not provided [RCV000882209] Chr8:144413369 [GRCh38]
Chr8:145638753 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_130849.4(SLC39A4):c.465C>T (p.Thr155=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000404457]|not provided [RCV002058711] Chr8:144415819 [GRCh38]
Chr8:145641203 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000276651]|not provided [RCV001516304] Chr8:144416727 [GRCh38]
Chr8:145642111 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.1174G>C (p.Glu392Gln) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000312232] Chr8:144414071 [GRCh38]
Chr8:145639455 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000334708]|not provided [RCV000931997] Chr8:144415300 [GRCh38]
Chr8:145640684 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1035C>A (p.Leu345=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000357897]|not provided [RCV001485761] Chr8:144414376 [GRCh38]
Chr8:145639760 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.592G>A (p.Ala198Thr) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000404935] Chr8:144415302 [GRCh38]
Chr8:145640686 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1234G>A (p.Ala412Thr) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000406648] Chr8:144414011 [GRCh38]
Chr8:145639395 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.340G>A (p.Ala114Thr) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000359976]|not provided [RCV001515873]|not specified [RCV000455765] Chr8:144415944 [GRCh38]
Chr8:145641328 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000279706]|not provided [RCV000930686] Chr8:144415279 [GRCh38]
Chr8:145640663 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_130849.4(SLC39A4):c.804G>A (p.Thr268=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000296212] Chr8:144414974 [GRCh38]
Chr8:145640358 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1141A>G (p.Thr381Ala) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000296860]|not provided [RCV001520475] Chr8:144414270 [GRCh38]
Chr8:144414270..144414271 [GRCh38]
Chr8:145639654 [GRCh37]
Chr8:145639654..145639655 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.804+9C>T single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000388165]|not provided [RCV000928572] Chr8:144414965 [GRCh38]
Chr8:145640349 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_130849.4(SLC39A4):c.532A>T (p.Ser178Cys) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000280801]|not provided [RCV000970194] Chr8:144415362 [GRCh38]
Chr8:145640746 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_130849.4(SLC39A4):c.1002G>A (p.Thr334=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000265537]|not provided [RCV000909347] Chr8:144414409 [GRCh38]
Chr8:145639793 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.-10G>A single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000317747] Chr8:144416799 [GRCh38]
Chr8:145642183 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.869C>T (p.Pro290Leu) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000365889]|Inborn genetic diseases [RCV004668908] Chr8:144414832 [GRCh38]
Chr8:145640216 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000365601]|not provided [RCV001515966]|not specified [RCV000455228] Chr8:144416033 [GRCh38]
Chr8:145641417 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.171C>T (p.Cys57=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000366898]|not provided [RCV001447697] Chr8:144416619 [GRCh38]
Chr8:145642003 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1150-15G>A single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000393260]|not provided [RCV003574762] Chr8:144414110 [GRCh38]
Chr8:145639494 [GRCh37]
Chr8:8q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130849.4(SLC39A4):c.92T>A (p.Leu31Gln) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001279438] Chr8:144416698 [GRCh38]
Chr8:145642082 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1287+22C>G single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001543909]|not provided [RCV001673170] Chr8:144413936 [GRCh38]
Chr8:145639320 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1511A>G (p.Asp504Gly) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000348067] Chr8:144413353 [GRCh38]
Chr8:145638737 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.668-10T>C single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000387071]|not provided [RCV001481995] Chr8:144415120 [GRCh38]
Chr8:145640504 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1150G>A (p.Val384Met) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000336853] Chr8:144414095 [GRCh38]
Chr8:145639479 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.473= (p.Met158=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000340351]|not provided [RCV000888670] Chr8:144415811 [GRCh38]
Chr8:145641195 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.1114= (p.Val372=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000393204]|not provided [RCV001515871] Chr8:144414297 [GRCh38]
Chr8:145639681 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1536G>A (p.Gly512=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV000290781]|not provided [RCV000976332] Chr8:144413328 [GRCh38]
Chr8:145638712 [GRCh37]
Chr8:8q24.3		 likely benign|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_130849.4(SLC39A4):c.493C>T (p.Gln165Ter) single nucleotide variant not provided [RCV000426928] Chr8:144415401 [GRCh38]
Chr8:145640785 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_130849.4(SLC39A4):c.1308C>T (p.Cys436=) single nucleotide variant not provided [RCV001412332] Chr8:144413861 [GRCh38]
Chr8:145639245 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
NM_130849.4(SLC39A4):c.751= (p.Arg251=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001543987]|not provided [RCV001515872]|not specified [RCV000455209] Chr8:144415027 [GRCh38]
Chr8:145640411 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3		 uncertain significance
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 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3		 likely 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
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_130849.4(SLC39A4):c.1777G>A (p.Ala593Thr) single nucleotide variant Inborn genetic diseases [RCV003257089] Chr8:144412797 [GRCh38]
Chr8:145638181 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.295G>T (p.Ala99Ser) single nucleotide variant Inborn genetic diseases [RCV003249971] Chr8:144415989 [GRCh38]
Chr8:145641373 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 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_130849.4(SLC39A4):c.1630G>A (p.Asp544Asn) single nucleotide variant Inborn genetic diseases [RCV004683739] Chr8:144412944 [GRCh38]
Chr8:145638328 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145661547)x3 copy number gain not provided [RCV000748023] Chr8:145638753..145661547 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145755918)x3 copy number gain not provided [RCV000748024] Chr8:145638753..145755918 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145772939)x3 copy number gain not provided [RCV000748027] Chr8:145638753..145772939 [GRCh37]
Chr8:8q24.3		 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 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145634556-145772939)x3 copy number gain not provided [RCV000748022] Chr8:145634556..145772939 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145758635)x3 copy number gain not provided [RCV000748025] Chr8:145638753..145758635 [GRCh37]
Chr8:8q24.3		 benign
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_130849.4(SLC39A4):c.646G>A (p.Glu216Lys) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164852]|not provided [RCV000976566] Chr8:144415248 [GRCh38]
Chr8:145640632 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1628-8G>T single nucleotide variant not provided [RCV000980347] Chr8:144412954 [GRCh38]
Chr8:145638338 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1266C>T (p.Leu422=) single nucleotide variant not provided [RCV000894020] Chr8:144413979 [GRCh38]
Chr8:145639363 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.*28C>T single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164641] Chr8:144412510 [GRCh38]
Chr8:145637894 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.659C>T (p.Thr220Met) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001827500]|Inborn genetic diseases [RCV002569048]|not provided [RCV001570335] Chr8:144415235 [GRCh38]
Chr8:145640619 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.264G>A (p.Leu88=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001579133] Chr8:144416020 [GRCh38]
Chr8:145641404 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1004_1020dup (p.Ala341fs) duplication not provided [RCV000999108] Chr8:144414390..144414391 [GRCh38]
Chr8:145639774..145639775 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001159946]|Inborn genetic diseases [RCV002537543]|not provided [RCV000900671] Chr8:144415376 [GRCh38]
Chr8:145640760 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1269G>A (p.Leu423=) single nucleotide variant not provided [RCV000943604] Chr8:144413976 [GRCh38]
Chr8:145639360 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.390C>T (p.Leu130=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001159951]|not provided [RCV000900743] Chr8:144415894 [GRCh38]
Chr8:145641278 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_130849.4(SLC39A4):c.1461G>A (p.Arg487=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275491]|not provided [RCV000921049] Chr8:144413526 [GRCh38]
Chr8:145638910 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1627+9_1627+10delinsCC indel not provided [RCV000945029] Chr8:144413227..144413228 [GRCh38]
Chr8:145638611..145638612 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.10C>T (p.Leu4=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001273726]|not provided [RCV000970195] Chr8:144416780 [GRCh38]
Chr8:145642164 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1704G>A (p.Thr568=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275489]|SLC39A4-related disorder [RCV003948309]|not provided [RCV000880869] Chr8:144412870 [GRCh38]
Chr8:145638254 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.1125C>T (p.Asp375=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164742]|not provided [RCV000944299] Chr8:144414286 [GRCh38]
Chr8:145639670 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1261A>T (p.Asn421Tyr) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275493]|not provided [RCV000941895] Chr8:144413984 [GRCh38]
Chr8:145639368 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.300C>T (p.Ala100=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001276003]|SLC39A4-related disorder [RCV003925842]|not provided [RCV000943016] Chr8:144415984 [GRCh38]
Chr8:145641368 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1608C>T (p.His536=) single nucleotide variant not provided [RCV000943021] Chr8:144413256 [GRCh38]
Chr8:145638640 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1299C>T (p.Asp433=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV002505376]|not provided [RCV000928370] Chr8:144413870 [GRCh38]
Chr8:145639254 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.72G>A (p.Pro24=) single nucleotide variant not provided [RCV000927856] Chr8:144416718 [GRCh38]
Chr8:145642102 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.751C>T (p.Arg251Trp) single nucleotide variant not provided [RCV000954694] Chr8:144415027 [GRCh38]
Chr8:145640411 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.480C>T (p.Cys160=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001276000]|not provided [RCV000929356] Chr8:144415414 [GRCh38]
Chr8:145640798 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1056C>T (p.Gly352=) single nucleotide variant SLC39A4-related disorder [RCV003913156]|not provided [RCV000932854] Chr8:144414355 [GRCh38]
Chr8:145639739 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.527C>T (p.Pro176Leu) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275999]|not provided [RCV000977648] Chr8:144415367 [GRCh38]
Chr8:145640751 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.977-9C>T single nucleotide variant not provided [RCV000895793] Chr8:144414443 [GRCh38]
Chr8:145639827 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1170C>T (p.His390=) single nucleotide variant not provided [RCV000979486] Chr8:144414075 [GRCh38]
Chr8:145639459 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.543C>T (p.Gly181=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275997]|not provided [RCV000918506] Chr8:144415351 [GRCh38]
Chr8:145640735 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.591C>T (p.His197=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001827083]|not provided [RCV000978177] Chr8:144415303 [GRCh38]
Chr8:145640687 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.76G>T (p.Ala26Ser) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001272621]|not provided [RCV000918546] Chr8:144416714 [GRCh38]
Chr8:145642098 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.210C>T (p.Asp70=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001827008]|not provided [RCV000943205] Chr8:144416074 [GRCh38]
Chr8:145641458 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.762G>A (p.Val254=) single nucleotide variant not provided [RCV000920819] Chr8:144415016 [GRCh38]
Chr8:145640400 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1020C>T (p.Cys340=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275995]|not provided [RCV000915129] Chr8:144414391 [GRCh38]
Chr8:145639775 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1257C>G (p.Leu419=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275494]|not provided [RCV000981981] Chr8:144413988 [GRCh38]
Chr8:145639372 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164644]|SLC39A4-related disorder [RCV003910829]|not provided [RCV000905933] Chr8:144412831 [GRCh38]
Chr8:145638215 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_130849.4(SLC39A4):c.301G>A (p.Val101Ile) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001161347]|Inborn genetic diseases [RCV002537545]|not provided [RCV000901177] Chr8:144415983 [GRCh38]
Chr8:145641367 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1149+9C>T single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164740]|not provided [RCV000939778] Chr8:144414253 [GRCh38]
Chr8:145639637 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_130849.4(SLC39A4):c.945C>T (p.Pro315=) single nucleotide variant not provided [RCV000942100] Chr8:144414756 [GRCh38]
Chr8:145640140 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1204C>T (p.Arg402Cys) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275495]|not provided [RCV000941083] Chr8:144414041 [GRCh38]
Chr8:145639425 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.294C>T (p.Ala98=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001830953]|SLC39A4-related disorder [RCV003940758]|not provided [RCV000894513] Chr8:144415990 [GRCh38]
Chr8:145641374 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1903C>T (p.Leu635=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001278656]|not provided [RCV000943912] Chr8:144412579 [GRCh38]
Chr8:145637963 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.540C>T (p.Gly180=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275998]|not provided [RCV000938708] Chr8:144415354 [GRCh38]
Chr8:145640738 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1659G>C (p.Leu553=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001271165]|not provided [RCV000880595] Chr8:144412915 [GRCh38]
Chr8:145638299 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.846G>A (p.Leu282=) single nucleotide variant not provided [RCV000978306] Chr8:144414855 [GRCh38]
Chr8:145640239 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.504G>A (p.Glu168=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001159949]|not provided [RCV000963918] Chr8:144415390 [GRCh38]
Chr8:145640774 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.1332G>A (p.Gly444=) single nucleotide variant not provided [RCV000977064] Chr8:144413837 [GRCh38]
Chr8:145639221 [GRCh37]
Chr8:8q24.3		 likely benign
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.339C>T (p.Asp113=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001276002]|not provided [RCV000892077] Chr8:144415945 [GRCh38]
Chr8:145641329 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
NM_130849.4(SLC39A4):c.138C>A (p.Gly46=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164974]|not provided [RCV001443793] Chr8:144416652 [GRCh38]
Chr8:145642036 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.54G>A (p.Val18=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001272622]|not provided [RCV000941876] Chr8:144416736 [GRCh38]
Chr8:145642120 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.297C>T (p.Ala99=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001276004]|not provided [RCV000917445] Chr8:144415987 [GRCh38]
Chr8:145641371 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-8G>C single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001162894]|not provided [RCV000942446] Chr8:144416099 [GRCh38]
Chr8:145641483 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.*61A>G single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164640] Chr8:144412477 [GRCh38]
Chr8:145637861 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.538G>A (p.Gly180Ser) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164853] Chr8:144415356 [GRCh38]
Chr8:145640740 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145603133-145695493)x3 copy number gain not provided [RCV000846119] Chr8:145603133..145695493 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1237_1238insA (p.Phe413fs) insertion not provided [RCV001227124] Chr8:144414007..144414008 [GRCh38]
Chr8:145639391..145639392 [GRCh37]
Chr8:8q24.3		 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
NM_130849.4(SLC39A4):c.295G>A (p.Ala99Thr) single nucleotide variant not provided [RCV000999109] Chr8:144415989 [GRCh38]
Chr8:145641373 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1089dup (p.Phe364fs) duplication not provided [RCV001228536] Chr8:144414321..144414322 [GRCh38]
Chr8:145639705..145639706 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1557C>T (p.Phe519=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001159725]|not provided [RCV001476550] Chr8:144413307 [GRCh38]
Chr8:145638691 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1529C>G (p.Ala510Gly) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001159726] Chr8:144413335 [GRCh38]
Chr8:145638719 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.510G>A (p.Ala170=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001159947]|not provided [RCV001419786] Chr8:144415384 [GRCh38]
Chr8:145640768 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.509C>T (p.Ala170Val) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001159948]|Inborn genetic diseases [RCV002558511] Chr8:144415385 [GRCh38]
Chr8:145640769 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.3(SLC39A4):c.-90T>C single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001160058] Chr8:144416879 [GRCh38]
Chr8:145642263 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.3(SLC39A4):c.-118G>A single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001160059] Chr8:144416907 [GRCh38]
Chr8:145642291 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1396C>G (p.His466Asp) single nucleotide variant not provided [RCV003104586] Chr8:144413773 [GRCh38]
Chr8:145639157 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.988G>A (p.Gly330Ser) single nucleotide variant Inborn genetic diseases [RCV003250864] Chr8:144414423 [GRCh38]
Chr8:145639807 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1150-42= single nucleotide variant not provided [RCV001619049] Chr8:144414137 [GRCh38]
Chr8:145639521 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.213C>T (p.Ala71=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001162893]|not provided [RCV000930247] Chr8:144416071 [GRCh38]
Chr8:145641455 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_130849.4(SLC39A4):c.1380G>T (p.Arg460=) single nucleotide variant not provided [RCV000979841] Chr8:144413789 [GRCh38]
Chr8:145639173 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.216G>A (p.Leu72=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001832178]|not provided [RCV000944671] Chr8:144416068 [GRCh38]
Chr8:145641452 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1452T>A (p.Pro484=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275492]|not provided [RCV000932545] Chr8:144413535 [GRCh38]
Chr8:145638919 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1851C>T (p.Pro617=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001836016]|not provided [RCV000922922] Chr8:144412631 [GRCh38]
Chr8:145638015 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.1149+8C>T single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164741]|not provided [RCV000929684] Chr8:144414254 [GRCh38]
Chr8:145639638 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_130849.4(SLC39A4):c.595T>C (p.Leu199=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001830938]|not provided [RCV000886073] Chr8:144415299 [GRCh38]
Chr8:145640683 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.558G>C (p.Leu186=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275996]|not provided [RCV000975531] Chr8:144415336 [GRCh38]
Chr8:145640720 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.258G>A (p.Pro86=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001276005]|not provided [RCV000894452] Chr8:144416026 [GRCh38]
Chr8:145641410 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_130849.4(SLC39A4):c.359C>T (p.Ala120Val) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001276001]|not provided [RCV000941576] Chr8:144415925 [GRCh38]
Chr8:145641309 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1149+7C>T single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275496]|not provided [RCV000928847] Chr8:144414255 [GRCh38]
Chr8:145639639 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1575C>T (p.Thr525=) single nucleotide variant not provided [RCV000928848] Chr8:144413289 [GRCh38]
Chr8:145638673 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.744C>T (p.Ala248=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001271166]|SLC39A4-related disorder [RCV004749520]|not provided [RCV000895735] Chr8:144415034 [GRCh38]
Chr8:145640418 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.285C>T (p.Arg95=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001161348]|not provided [RCV000907511] Chr8:144415999 [GRCh38]
Chr8:145641383 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.645C>T (p.Ser215=) single nucleotide variant not provided [RCV000930736] Chr8:144415249 [GRCh38]
Chr8:145640633 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1003C>T (p.Leu335=) single nucleotide variant not provided [RCV000930739] Chr8:144414408 [GRCh38]
Chr8:145639792 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-10T>C single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001275490]|not provided [RCV000982266] Chr8:144412956 [GRCh38]
Chr8:145638340 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.87G>A (p.Leu29=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001276008]|not provided [RCV000909662] Chr8:144416703 [GRCh38]
Chr8:145642087 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1149+2T>C single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001836230]|not provided [RCV001244526] Chr8:144414260 [GRCh38]
Chr8:145639644 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.104G>C (p.Gly35Ala) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164975] Chr8:144416686 [GRCh38]
Chr8:145642070 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.435G>C (p.Gln145His) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001159950] Chr8:144415849 [GRCh38]
Chr8:145641233 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.89_99del (p.Ser30fs) deletion not provided [RCV001224153] Chr8:144416691..144416701 [GRCh38]
Chr8:145642075..145642085 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.66G>A (p.Ala22=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001827044]|SLC39A4-related disorder [RCV003903294]|not provided [RCV000956688] Chr8:144416724 [GRCh38]
Chr8:145642108 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.1323T>C (p.His441=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001162682]|not provided [RCV000913725] Chr8:144413846 [GRCh38]
Chr8:145639230 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.225C>T (p.Gly75=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001271167]|SLC39A4-related disorder [RCV003960504]|not provided [RCV000934214] Chr8:144416059 [GRCh38]
Chr8:145641443 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.202G>T (p.Val68Leu) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001276006]|not provided [RCV000956687] Chr8:144416082 [GRCh38]
Chr8:145641466 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.321C>T (p.Pro107=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001825831]|not provided [RCV000912618] Chr8:144415963 [GRCh38]
Chr8:145641347 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.161G>A (p.Arg54His) single nucleotide variant Inborn genetic diseases [RCV002989921] Chr8:144416629 [GRCh38]
Chr8:145642013 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1475-38G>T single nucleotide variant not provided [RCV001608564] Chr8:144413427 [GRCh38]
Chr8:145638811 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1319G>C (p.Ser440Thr) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001162683] Chr8:144413850 [GRCh38]
Chr8:145639234 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1284G>A (p.Pro428=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001162684]|not provided [RCV001407417] Chr8:144413961 [GRCh38]
Chr8:145639345 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.235G>A (p.Gly79Arg) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001162892] Chr8:144416049 [GRCh38]
Chr8:145641433 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1409G>A (p.Arg470His) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001161125] Chr8:144413760 [GRCh38]
Chr8:145639144 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1384C>T (p.Pro462Ser) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001161126] Chr8:144413785 [GRCh38]
Chr8:145639169 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1371C>T (p.Ser457=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001161127] Chr8:144413798 [GRCh38]
Chr8:145639182 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.848C>T (p.Ser283Leu) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001161231]|SLC39A4-related disorder [RCV003938533]|not provided [RCV002070996] Chr8:144414853 [GRCh38]
Chr8:145640237 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1425G>C (p.Ala475=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001161124]|not provided [RCV002558531] Chr8:144413562 [GRCh38]
Chr8:145638946 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.193-89A>C single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001543988]|not provided [RCV001647393] Chr8:144416180 [GRCh38]
Chr8:145641564 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.666C>T (p.Ala222=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001162785] Chr8:144415228 [GRCh38]
Chr8:145640612 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1627+1G>T single nucleotide variant not provided [RCV001047999] Chr8:144413236 [GRCh38]
Chr8:145638620 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1924G>A (p.Glu642Lys) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164642] Chr8:144412558 [GRCh38]
Chr8:145637942 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.543del (p.Val182fs) deletion not provided [RCV001236438] Chr8:144415351 [GRCh38]
Chr8:145640735 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1429G>A (p.Glu477Lys) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001159727] Chr8:144413558 [GRCh38]
Chr8:145638942 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1022C>T (p.Ala341Val) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001159826]|not provided [RCV001528529] Chr8:144414389 [GRCh38]
Chr8:145639773 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.976+15C>T single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001159827]|not provided [RCV003558727] Chr8:144414710 [GRCh38]
Chr8:145640094 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.1837C>T (p.Arg613Trp) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164643] Chr8:144412645 [GRCh38]
Chr8:145638029 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1146_1149+10del deletion not provided [RCV001228419] Chr8:144414252..144414265 [GRCh38]
Chr8:145639636..145639649 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1066dup (p.Val356fs) duplication not provided [RCV001233539] Chr8:144414344..144414345 [GRCh38]
Chr8:145639728..145639729 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.277G>A (p.Val93Ile) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001161349] Chr8:144416007 [GRCh38]
Chr8:145641391 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1225G>C (p.Gly409Arg) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001162686] Chr8:144414020 [GRCh38]
Chr8:145639404 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.193-3C>T single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001334475] Chr8:144416094 [GRCh38]
Chr8:145641478 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1465_1474+4del deletion Hereditary acrodermatitis enteropathica [RCV002499457]|Inborn genetic diseases [RCV001266753]|SLC39A4-related disorder [RCV003399039]|not provided [RCV001377474] Chr8:144413509..144413522 [GRCh38]
Chr8:145638893..145638906 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_130849.4(SLC39A4):c.1918C>T (p.Leu640=) single nucleotide variant not provided [RCV001422180] Chr8:144412564 [GRCh38]
Chr8:145637948 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.600G>A (p.Pro200=) single nucleotide variant not provided [RCV001392097] Chr8:144415294 [GRCh38]
Chr8:145640678 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1038G>A (p.Leu346=) single nucleotide variant not provided [RCV001422275] Chr8:144414373 [GRCh38]
Chr8:145639757 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-10C>T single nucleotide variant not provided [RCV001396739] Chr8:144416101 [GRCh38]
Chr8:145641485 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.57G>C (p.Thr19=) single nucleotide variant SLC39A4-related disorder [RCV003973255]|not provided [RCV001415001] Chr8:144416733 [GRCh38]
Chr8:145642117 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1059C>G (p.Cys353Trp) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001278660] Chr8:144414352 [GRCh38]
Chr8:145639736 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.324G>A (p.Glu108=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001278662]|SLC39A4-related disorder [RCV003973172]|not provided [RCV001413560] Chr8:144415960 [GRCh38]
Chr8:145641344 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.182C>T (p.Pro61Leu) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001278664] Chr8:144416608 [GRCh38]
Chr8:145641992 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1563C>A (p.Ser521=) single nucleotide variant not provided [RCV001391908] Chr8:144413301 [GRCh38]
Chr8:145638685 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.453T>C (p.Ala151=) single nucleotide variant not provided [RCV001391952] Chr8:144415831 [GRCh38]
Chr8:145641215 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.411C>T (p.Thr137=) single nucleotide variant not provided [RCV001392231] Chr8:144415873 [GRCh38]
Chr8:145641257 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.641_642insGGCAGCACAG (p.Ser214fs) insertion Hereditary acrodermatitis enteropathica [RCV001334477] Chr8:144415252..144415253 [GRCh38]
Chr8:145640636..145640637 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.807A>G (p.Val269=) single nucleotide variant not provided [RCV001415318] Chr8:144414894 [GRCh38]
Chr8:145640278 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.711C>T (p.Ala237=) single nucleotide variant not provided [RCV001414210] Chr8:144415067 [GRCh38]
Chr8:145640451 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1566C>T (p.Ser522=) single nucleotide variant not provided [RCV001396881] Chr8:144413298 [GRCh38]
Chr8:145638682 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1884G>C (p.Leu628=) single nucleotide variant not provided [RCV001423158] Chr8:144412598 [GRCh38]
Chr8:145637982 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-65G>A single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001334476] Chr8:144416156 [GRCh38]
Chr8:145641540 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1173C>T (p.Ser391=) single nucleotide variant not provided [RCV001394932] Chr8:144414072 [GRCh38]
Chr8:145639456 [GRCh37]
Chr8:8q24.3		 likely benign
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
GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3 copy number gain See cases [RCV000203425] Chr8:145600952..145834119 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1118C>G (p.Thr373Ser) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001278658] Chr8:144414293 [GRCh38]
Chr8:145639677 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1066G>T (p.Val356Phe) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001278659] Chr8:144414345 [GRCh38]
Chr8:145639729 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1896G>A (p.Trp632Ter) single nucleotide variant not provided [RCV000493287] Chr8:144412586 [GRCh38]
Chr8:145637970 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145763152)x3 copy number gain not provided [RCV000748026] Chr8:145638753..145763152 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145634413-145753161)x3 copy number gain not provided [RCV000748021] Chr8:145634413..145753161 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3		 pathogenic
NM_130849.4(SLC39A4):c.1735G>C (p.Val579Leu) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001164645] Chr8:144412839 [GRCh38]
Chr8:145638223 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.192+7G>A single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001276007]|not provided [RCV000912302] Chr8:144416591 [GRCh38]
Chr8:145641975 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1279G>C (p.Asp427His) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001162685]|Inborn genetic diseases [RCV002558551] Chr8:144413966 [GRCh38]
Chr8:145639350 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.70C>T (p.Pro24Ser) single nucleotide variant Inborn genetic diseases [RCV004683740] Chr8:144416720 [GRCh38]
Chr8:145642104 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_130849.4(SLC39A4):c.1391C>A (p.Pro464His) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001278657] Chr8:144413778 [GRCh38]
Chr8:145639162 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.456C>T (p.Ala152=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001278661]|not provided [RCV001424746] Chr8:144415828 [GRCh38]
Chr8:145641212 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-7C>T single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001278663]|not provided [RCV002069434] Chr8:144416098 [GRCh38]
Chr8:145641482 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_130849.4(SLC39A4):c.1937C>T (p.Thr646Ile) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001278655] Chr8:144412545 [GRCh38]
Chr8:145637929 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.193-10C>G single nucleotide variant not provided [RCV001413290] Chr8:144416101 [GRCh38]
Chr8:145641485 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1866G>C (p.Leu622=) single nucleotide variant not provided [RCV001395996] Chr8:144412616 [GRCh38]
Chr8:145638000 [GRCh37]
Chr8:8q24.3		 likely benign
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1143G>T (p.Thr381=) single nucleotide variant not provided [RCV001412841] Chr8:144414268 [GRCh38]
Chr8:145639652 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.858T>C (p.Ala286=) single nucleotide variant not provided [RCV001421700] Chr8:144414843 [GRCh38]
Chr8:145640227 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1354C>T (p.Leu452=) single nucleotide variant not provided [RCV001396085] Chr8:144413815 [GRCh38]
Chr8:145639199 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.279C>T (p.Val93=) single nucleotide variant not provided [RCV001413052] Chr8:144416005 [GRCh38]
Chr8:145641389 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1698G>A (p.Ala566=) single nucleotide variant not provided [RCV001492139] Chr8:144412876 [GRCh38]
Chr8:145638260 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.804+10G>A single nucleotide variant not provided [RCV001457514] Chr8:144414964 [GRCh38]
Chr8:145640348 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1539G>A (p.Leu513=) single nucleotide variant not provided [RCV001441049] Chr8:144413325 [GRCh38]
Chr8:145638709 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.240A>C (p.Ser80=) single nucleotide variant not provided [RCV001478294] Chr8:144416044 [GRCh38]
Chr8:145641428 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1791C>T (p.Phe597=) single nucleotide variant not provided [RCV001435542] Chr8:144412783 [GRCh38]
Chr8:145638167 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1233C>T (p.Tyr411=) single nucleotide variant not provided [RCV001435543] Chr8:144414012 [GRCh38]
Chr8:145639396 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1032C>T (p.Gly344=) single nucleotide variant not provided [RCV001450949] Chr8:144414379 [GRCh38]
Chr8:145639763 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1683G>T (p.Leu561=) single nucleotide variant not provided [RCV001454786] Chr8:144412891 [GRCh38]
Chr8:145638275 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.135C>T (p.Gly45=) single nucleotide variant not provided [RCV001404746] Chr8:144416655 [GRCh38]
Chr8:145642039 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1884G>T (p.Leu628=) single nucleotide variant not provided [RCV001457161] Chr8:144412598 [GRCh38]
Chr8:145637982 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1107G>A (p.Val369=) single nucleotide variant not provided [RCV001487753] Chr8:144414304 [GRCh38]
Chr8:145639688 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.447C>T (p.Ala149=) single nucleotide variant not provided [RCV001458818] Chr8:144415837 [GRCh38]
Chr8:145641221 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1143G>A (p.Thr381=) single nucleotide variant SLC39A4-related disorder [RCV003965800]|not provided [RCV001425366] Chr8:144414268 [GRCh38]
Chr8:145639652 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1803A>G (p.Ala601=) single nucleotide variant not provided [RCV001482203] Chr8:144412771 [GRCh38]
Chr8:145638155 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1419+8G>C single nucleotide variant not provided [RCV001470778] Chr8:144413742 [GRCh38]
Chr8:145639126 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1657C>T (p.Leu553=) single nucleotide variant not provided [RCV001506416] Chr8:144412917 [GRCh38]
Chr8:145638301 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.82C>T (p.Leu28=) single nucleotide variant not provided [RCV001502582] Chr8:144416708 [GRCh38]
Chr8:145642092 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.915G>A (p.Leu305=) single nucleotide variant not provided [RCV001475396] Chr8:144414786 [GRCh38]
Chr8:145640170 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.408G>A (p.Leu136=) single nucleotide variant not provided [RCV001486318] Chr8:144415876 [GRCh38]
Chr8:145641260 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1077C>T (p.Tyr359=) single nucleotide variant not provided [RCV001465203] Chr8:144414334 [GRCh38]
Chr8:145639718 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1122G>C (p.Gly374=) single nucleotide variant not provided [RCV001465204] Chr8:144414289 [GRCh38]
Chr8:145639673 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1302G>A (p.Gly434=) single nucleotide variant not provided [RCV001496907] Chr8:144413867 [GRCh38]
Chr8:145639251 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.150G>A (p.Thr50=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001826371]|not provided [RCV001517078] Chr8:144416640 [GRCh38]
Chr8:145642024 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.675A>G (p.Ser225=) single nucleotide variant not provided [RCV001459370] Chr8:144415103 [GRCh38]
Chr8:145640487 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1008C>T (p.Leu336=) single nucleotide variant not provided [RCV001491559] Chr8:144414403 [GRCh38]
Chr8:145639787 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1518G>C (p.Val506=) single nucleotide variant not provided [RCV001452344] Chr8:144413346 [GRCh38]
Chr8:145638730 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1329C>T (p.His443=) single nucleotide variant not provided [RCV001476995] Chr8:144413840 [GRCh38]
Chr8:145639224 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1638C>G (p.Ala546=) single nucleotide variant not provided [RCV001437032] Chr8:144412936 [GRCh38]
Chr8:145638320 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1131C>G (p.Val377=) single nucleotide variant not provided [RCV001462340] Chr8:144414280 [GRCh38]
Chr8:145639664 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.528G>A (p.Pro176=) single nucleotide variant not provided [RCV001480166] Chr8:144415366 [GRCh38]
Chr8:145640750 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1782C>G (p.Thr594=) single nucleotide variant not provided [RCV001471780] Chr8:144412792 [GRCh38]
Chr8:145638176 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1065G>A (p.Gly355=) single nucleotide variant not provided [RCV001452681] Chr8:144414346 [GRCh38]
Chr8:145639730 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1816-5C>T single nucleotide variant not provided [RCV001456096] Chr8:144412671 [GRCh38]
Chr8:145638055 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1590G>T (p.Ser530=) single nucleotide variant SLC39A4-related disorder [RCV003946221]|not provided [RCV001469530] Chr8:144413274 [GRCh38]
Chr8:145638658 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.714C>T (p.His238=) single nucleotide variant not provided [RCV001437100] Chr8:144415064 [GRCh38]
Chr8:145640448 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.219C>A (p.Gly73=) single nucleotide variant not provided [RCV001442331] Chr8:144416065 [GRCh38]
Chr8:145641449 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-4A>T single nucleotide variant not provided [RCV001392950] Chr8:144416095 [GRCh38]
Chr8:145641479 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.231T>C (p.Pro77=) single nucleotide variant not provided [RCV001468300] Chr8:144416053 [GRCh38]
Chr8:145641437 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.330C>T (p.Thr110=) single nucleotide variant not provided [RCV001492938] Chr8:144415954 [GRCh38]
Chr8:145641338 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1347T>G (p.Gly449=) single nucleotide variant not provided [RCV001460159] Chr8:144413822 [GRCh38]
Chr8:145639206 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.891C>T (p.Ser297=) single nucleotide variant not provided [RCV001491751] Chr8:144414810 [GRCh38]
Chr8:145640194 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1227G>T (p.Gly409=) single nucleotide variant not provided [RCV001467018] Chr8:144414018 [GRCh38]
Chr8:145639402 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.192+1G>A single nucleotide variant not provided [RCV001376883] Chr8:144416597 [GRCh38]
Chr8:145641981 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.246G>T (p.Leu82=) single nucleotide variant not provided [RCV001491843] Chr8:144416038 [GRCh38]
Chr8:145641422 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.57G>T (p.Thr19=) single nucleotide variant not provided [RCV001493175] Chr8:144416733 [GRCh38]
Chr8:145642117 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.183G>A (p.Pro61=) single nucleotide variant not provided [RCV001501438] Chr8:144416607 [GRCh38]
Chr8:145641991 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.948C>A (p.Pro316=) single nucleotide variant not provided [RCV001398186] Chr8:144414753 [GRCh38]
Chr8:145640137 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1488G>C (p.Leu496=) single nucleotide variant not provided [RCV001423813] Chr8:144413376 [GRCh38]
Chr8:145638760 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1821G>C (p.Pro607=) single nucleotide variant not provided [RCV001489693] Chr8:144412661 [GRCh38]
Chr8:145638045 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1150-6C>T single nucleotide variant not provided [RCV001472468] Chr8:144414101 [GRCh38]
Chr8:145639485 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.738G>A (p.Arg246=) single nucleotide variant not provided [RCV001460949] Chr8:144415040 [GRCh38]
Chr8:145640424 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.977-8G>A single nucleotide variant not provided [RCV001416281] Chr8:144414442 [GRCh38]
Chr8:145639826 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.468C>T (p.Pro156=) single nucleotide variant not provided [RCV001403991] Chr8:144415816 [GRCh38]
Chr8:145641200 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.288C>T (p.Leu96=) single nucleotide variant not provided [RCV001432000] Chr8:144415996 [GRCh38]
Chr8:145641380 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.873G>A (p.Glu291=) single nucleotide variant not provided [RCV001488556] Chr8:144414828 [GRCh38]
Chr8:145640212 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1066del (p.Val356fs) deletion Hereditary acrodermatitis enteropathica [RCV001780371]|not provided [RCV001389028] Chr8:144414345 [GRCh38]
Chr8:145639729 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_130849.4(SLC39A4):c.1749G>A (p.Glu583=) single nucleotide variant not provided [RCV001477565] Chr8:144412825 [GRCh38]
Chr8:145638209 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-6C>T single nucleotide variant not provided [RCV001464058] Chr8:144414902 [GRCh38]
Chr8:145640286 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1857C>A (p.Leu619=) single nucleotide variant not provided [RCV001404394] Chr8:144412625 [GRCh38]
Chr8:145638009 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1620C>T (p.His540=) single nucleotide variant not provided [RCV001409251] Chr8:144413244 [GRCh38]
Chr8:145638628 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1182C>T (p.Gly394=) single nucleotide variant not provided [RCV001420051] Chr8:144414063 [GRCh38]
Chr8:145639447 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1140G>A (p.Leu380=) single nucleotide variant not provided [RCV001427969] Chr8:144414271 [GRCh38]
Chr8:145639655 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1824G>A (p.Ala608=) single nucleotide variant not provided [RCV001403161] Chr8:144412658 [GRCh38]
Chr8:145638042 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1767C>T (p.Ile589=) single nucleotide variant not provided [RCV001420064] Chr8:144412807 [GRCh38]
Chr8:145638191 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1659G>A (p.Leu553=) single nucleotide variant not provided [RCV001428122] Chr8:144412915 [GRCh38]
Chr8:145638299 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-8C>T single nucleotide variant not provided [RCV001446616] Chr8:144414904 [GRCh38]
Chr8:145640288 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-2A>C single nucleotide variant not provided [RCV001376835] Chr8:144412948 [GRCh38]
Chr8:145638332 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1869G>T (p.Leu623=) single nucleotide variant not provided [RCV001424908] Chr8:144412613 [GRCh38]
Chr8:145637997 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.519G>C (p.Ala173=) single nucleotide variant not provided [RCV001400287] Chr8:144415375 [GRCh38]
Chr8:145640759 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.519G>A (p.Ala173=) single nucleotide variant not provided [RCV001438737] Chr8:144415375 [GRCh38]
Chr8:145640759 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1542C>T (p.Ala514=) single nucleotide variant not provided [RCV001444198] Chr8:144413322 [GRCh38]
Chr8:145638706 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.156G>A (p.Ala52=) single nucleotide variant SLC39A4-related disorder [RCV003938779]|not provided [RCV001441760] Chr8:144416634 [GRCh38]
Chr8:145642018 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1191A>G (p.Pro397=) single nucleotide variant not provided [RCV001441800] Chr8:144414054 [GRCh38]
Chr8:145639438 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.993C>T (p.Ser331=) single nucleotide variant not provided [RCV001431129] Chr8:144414418 [GRCh38]
Chr8:145639802 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.435G>A (p.Gln145=) single nucleotide variant not provided [RCV001401220] Chr8:144415849 [GRCh38]
Chr8:145641233 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.90C>T (p.Ser30=) single nucleotide variant not provided [RCV001410265] Chr8:144416700 [GRCh38]
Chr8:145642084 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1554C>T (p.Ala518=) single nucleotide variant SLC39A4-related disorder [RCV003965803]|not provided [RCV001426177] Chr8:144413310 [GRCh38]
Chr8:145638694 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.759T>C (p.Pro253=) single nucleotide variant not provided [RCV001398198] Chr8:144415019 [GRCh38]
Chr8:145640403 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1551C>T (p.Ala517=) single nucleotide variant not provided [RCV001434677] Chr8:144413313 [GRCh38]
Chr8:145638697 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.15C>G (p.Val5=) single nucleotide variant not provided [RCV001398243] Chr8:144416775 [GRCh38]
Chr8:145642159 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1193_1199dup (p.Trp401fs) microsatellite not provided [RCV001388616] Chr8:144414045..144414046 [GRCh38]
Chr8:145639429..145639430 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1416C>T (p.Asp472=) single nucleotide variant not provided [RCV001441863] Chr8:144413753 [GRCh38]
Chr8:145639137 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-4C>T single nucleotide variant not provided [RCV001447190] Chr8:144414900 [GRCh38]
Chr8:145640284 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.516G>A (p.Gly172=) single nucleotide variant not provided [RCV001392979] Chr8:144415378 [GRCh38]
Chr8:145640762 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1132C>T (p.Leu378=) single nucleotide variant not provided [RCV001408096] Chr8:144414279 [GRCh38]
Chr8:145639663 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1623G>A (p.Glu541=) single nucleotide variant not provided [RCV001410707] Chr8:144413241 [GRCh38]
Chr8:145638625 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1419+2T>G single nucleotide variant not provided [RCV001379570] Chr8:144413748 [GRCh38]
Chr8:145639132 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001831381]|not provided [RCV001381864] Chr8:144414042 [GRCh38]
Chr8:145639426 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1287+7C>T single nucleotide variant not provided [RCV001448048] Chr8:144413951 [GRCh38]
Chr8:145639335 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.660G>A (p.Thr220=) single nucleotide variant not provided [RCV001428376] Chr8:144415234 [GRCh38]
Chr8:145640618 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1536G>C (p.Gly512=) single nucleotide variant not provided [RCV001411143] Chr8:144413328 [GRCh38]
Chr8:145638712 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1560G>A (p.Ala520=) single nucleotide variant not provided [RCV001398556] Chr8:144413304 [GRCh38]
Chr8:145638688 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1475-4G>T single nucleotide variant not provided [RCV001445582] Chr8:144413393 [GRCh38]
Chr8:145638777 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.244C>T (p.Leu82=) single nucleotide variant not provided [RCV001424353] Chr8:144416040 [GRCh38]
Chr8:145641424 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1776G>A (p.Val592=) single nucleotide variant not provided [RCV001439197] Chr8:144412798 [GRCh38]
Chr8:145638182 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.674C>A (p.Ser225Ter) single nucleotide variant not provided [RCV001382005] Chr8:144415104 [GRCh38]
Chr8:145640488 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1152G>A (p.Val384=) single nucleotide variant not provided [RCV001431999] Chr8:144414093 [GRCh38]
Chr8:145639477 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1515C>T (p.Ala505=) single nucleotide variant not provided [RCV001411577] Chr8:144413349 [GRCh38]
Chr8:145638733 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.667+9T>C single nucleotide variant not provided [RCV001409373] Chr8:144415218 [GRCh38]
Chr8:145640602 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1890C>T (p.Gly630=) single nucleotide variant not provided [RCV001467784] Chr8:144412592 [GRCh38]
Chr8:145637976 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.279C>A (p.Val93=) single nucleotide variant not provided [RCV001473146] Chr8:144416005 [GRCh38]
Chr8:145641389 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.963C>T (p.Leu321=) single nucleotide variant not provided [RCV001479338] Chr8:144414738 [GRCh38]
Chr8:145640122 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.783C>T (p.Asn261=) single nucleotide variant not provided [RCV001465565] Chr8:144414995 [GRCh38]
Chr8:145640379 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1224C>T (p.Ala408=) single nucleotide variant not provided [RCV001503169] Chr8:144414021 [GRCh38]
Chr8:145639405 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.987C>T (p.Tyr329=) single nucleotide variant not provided [RCV001496381] Chr8:144414424 [GRCh38]
Chr8:145639808 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1527C>T (p.Phe509=) single nucleotide variant not provided [RCV001499895] Chr8:144413337 [GRCh38]
Chr8:145638721 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.696G>A (p.Gly232=) single nucleotide variant not provided [RCV001462688] Chr8:144415082 [GRCh38]
Chr8:145640466 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.936G>A (p.Gln312=) single nucleotide variant not provided [RCV001503498] Chr8:144414765 [GRCh38]
Chr8:145640149 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1773A>C (p.Ala591=) single nucleotide variant not provided [RCV001503828] Chr8:144412801 [GRCh38]
Chr8:145638185 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1419+28= single nucleotide variant not provided [RCV001667685] Chr8:144413722 [GRCh38]
Chr8:145639106 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1179G>A (p.Glu393=) single nucleotide variant not provided [RCV001497746] Chr8:144414066 [GRCh38]
Chr8:145639450 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.948C>G (p.Pro316=) single nucleotide variant not provided [RCV001460291] Chr8:144414753 [GRCh38]
Chr8:145640137 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.111C>T (p.Gly37=) single nucleotide variant not provided [RCV001460524] Chr8:144416679 [GRCh38]
Chr8:145642063 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1080C>T (p.Ile360=) single nucleotide variant not provided [RCV001463706] Chr8:144414331 [GRCh38]
Chr8:145639715 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1434C>T (p.Ser478=) single nucleotide variant not provided [RCV001453067] Chr8:144413553 [GRCh38]
Chr8:145638937 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1467G>A (p.Leu489=) single nucleotide variant not provided [RCV001467281] Chr8:144413520 [GRCh38]
Chr8:145638904 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.765C>T (p.Pro255=) single nucleotide variant not provided [RCV001488647] Chr8:144415013 [GRCh38]
Chr8:145640397 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1779C>T (p.Ala593=) single nucleotide variant not provided [RCV001477941] Chr8:144412795 [GRCh38]
Chr8:145638179 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1482G>A (p.Arg494=) single nucleotide variant not provided [RCV001463745] Chr8:144413382 [GRCh38]
Chr8:145638766 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1420-5C>G single nucleotide variant not provided [RCV001501191] Chr8:144413572 [GRCh38]
Chr8:145638956 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.898C>T (p.Leu300=) single nucleotide variant not provided [RCV001467319] Chr8:144414803 [GRCh38]
Chr8:145640187 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-7C>T single nucleotide variant not provided [RCV001485339] Chr8:144414903 [GRCh38]
Chr8:145640287 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1068C>T (p.Val356=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001826338]|not provided [RCV001498568] Chr8:144414343 [GRCh38]
Chr8:145639727 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.177C>T (p.Asn59=) single nucleotide variant not provided [RCV001454279] Chr8:144416613 [GRCh38]
Chr8:145641997 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.198G>A (p.Leu66=) single nucleotide variant not provided [RCV001502858] Chr8:144416086 [GRCh38]
Chr8:145641470 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.882C>T (p.Ala294=) single nucleotide variant not provided [RCV001468434] Chr8:144414819 [GRCh38]
Chr8:145640203 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.63G>A (p.Thr21=) single nucleotide variant not provided [RCV001431271] Chr8:144416727 [GRCh38]
Chr8:145642111 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1149+10del deletion not provided [RCV001518618] Chr8:144414252 [GRCh38]
Chr8:145639636 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1575C>G (p.Thr525=) single nucleotide variant not provided [RCV001473434] Chr8:144413289 [GRCh38]
Chr8:145638673 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1149+8C>G single nucleotide variant not provided [RCV001495464] Chr8:144414254 [GRCh38]
Chr8:145639638 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.321C>G (p.Pro107=) single nucleotide variant not provided [RCV001436110] Chr8:144415963 [GRCh38]
Chr8:145641347 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1068_1069inv (p.Thr357Ala) inversion not provided [RCV001401580] Chr8:144414342..144414343 [GRCh38]
Chr8:145639726..145639727 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.351C>T (p.Gly117=) single nucleotide variant not provided [RCV001482923] Chr8:144415933 [GRCh38]
Chr8:145641317 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1287+10C>T single nucleotide variant not provided [RCV001467163] Chr8:144413948 [GRCh38]
Chr8:145639332 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.489C>T (p.Ile163=) single nucleotide variant not provided [RCV001506092] Chr8:144415405 [GRCh38]
Chr8:145640789 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.609G>A (p.Gln203=) single nucleotide variant not provided [RCV001486245] Chr8:144415285 [GRCh38]
Chr8:145640669 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1483C>T (p.Leu495=) single nucleotide variant not provided [RCV001431617] Chr8:144413381 [GRCh38]
Chr8:145638765 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.576C>T (p.Ser192=) single nucleotide variant not provided [RCV001477793] Chr8:144415318 [GRCh38]
Chr8:145640702 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.507G>A (p.Glu169=) single nucleotide variant not provided [RCV001460470] Chr8:144415387 [GRCh38]
Chr8:145640771 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1635C>T (p.Phe545=) single nucleotide variant not provided [RCV001451337] Chr8:144412939 [GRCh38]
Chr8:145638323 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1638C>T (p.Ala546=) single nucleotide variant not provided [RCV001477010] Chr8:144412936 [GRCh38]
Chr8:145638320 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.853C>T (p.Gln285Ter) single nucleotide variant not provided [RCV001390844] Chr8:144414848 [GRCh38]
Chr8:145640232 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.556C>T (p.Leu186=) single nucleotide variant not provided [RCV001460667] Chr8:144415338 [GRCh38]
Chr8:145640722 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.621C>T (p.Asp207=) single nucleotide variant not provided [RCV001483070] Chr8:144415273 [GRCh38]
Chr8:145640657 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1893C>G (p.Gly631=) single nucleotide variant not provided [RCV001477448] Chr8:144412589 [GRCh38]
Chr8:145637973 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1731C>T (p.Leu577=) single nucleotide variant SLC39A4-related disorder [RCV003920976]|not provided [RCV001460859] Chr8:144412843 [GRCh38]
Chr8:145638227 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1909C>T (p.Leu637=) single nucleotide variant not provided [RCV001455751] Chr8:144412573 [GRCh38]
Chr8:145637957 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-113T>C single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001832725]|not provided [RCV001523523] Chr8:144416204 [GRCh38]
Chr8:145641588 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1113A>G (p.Ala371=) single nucleotide variant not provided [RCV001399989] Chr8:144414298 [GRCh38]
Chr8:145639682 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1032C>A (p.Gly344=) single nucleotide variant not provided [RCV001425491] Chr8:144414379 [GRCh38]
Chr8:145639763 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1308C>A (p.Cys436Ter) single nucleotide variant not provided [RCV001380094] Chr8:144413861 [GRCh38]
Chr8:145639245 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.475-4C>G single nucleotide variant not provided [RCV001500679] Chr8:144415423 [GRCh38]
Chr8:145640807 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.977-7C>T single nucleotide variant not provided [RCV001434348] Chr8:144414441 [GRCh38]
Chr8:145639825 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1911G>T (p.Leu637=) single nucleotide variant not provided [RCV001505288] Chr8:144412571 [GRCh38]
Chr8:145637955 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1245G>T (p.Leu415=) single nucleotide variant not provided [RCV001434355] Chr8:144414000 [GRCh38]
Chr8:145639384 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.723C>T (p.His241=) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001832585]|not provided [RCV001452119] Chr8:144415055 [GRCh38]
Chr8:145640439 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.927C>T (p.Cys309=) single nucleotide variant not provided [RCV001476704] Chr8:144414774 [GRCh38]
Chr8:145640158 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1149+10C>T single nucleotide variant Hereditary acrodermatitis enteropathica [RCV001826366]|not provided [RCV001515036] Chr8:144414252 [GRCh38]
Chr8:145639636 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_130849.4(SLC39A4):c.1845G>A (p.Pro615=) single nucleotide variant not provided [RCV001456191] Chr8:144412637 [GRCh38]
Chr8:145638021 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.18G>A (p.Ser6=) single nucleotide variant not provided [RCV001407145] Chr8:144416772 [GRCh38]
Chr8:145642156 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1437G>A (p.Pro479=) single nucleotide variant not provided [RCV001393727] Chr8:144413550 [GRCh38]
Chr8:145638934 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1425G>A (p.Ala475=) single nucleotide variant not provided [RCV001437396] Chr8:144413562 [GRCh38]
Chr8:145638946 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.651C>T (p.Val217=) single nucleotide variant not provided [RCV001423939] Chr8:144415243 [GRCh38]
Chr8:145640627 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1332G>C (p.Gly444=) single nucleotide variant not provided [RCV001404872] Chr8:144413837 [GRCh38]
Chr8:145639221 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.543C>A (p.Gly181=) single nucleotide variant not provided [RCV001468157] Chr8:144415351 [GRCh38]
Chr8:145640735 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV001424472] Chr8:144416784 [GRCh38]
Chr8:145642168 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.501G>A (p.Leu167=) single nucleotide variant not provided [RCV001441483] Chr8:144415393 [GRCh38]
Chr8:145640777 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1788G>A (p.Leu596=) single nucleotide variant not provided [RCV001454937] Chr8:144412786 [GRCh38]
Chr8:145638170 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1288-4A>C single nucleotide variant not provided [RCV001472101] Chr8:144413885 [GRCh38]
Chr8:145639269 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1767C>A (p.Ile589=) single nucleotide variant not provided [RCV001459800] Chr8:144412807 [GRCh38]
Chr8:145638191 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1629G>A (p.Gly543=) single nucleotide variant not provided [RCV001520118] Chr8:144412945 [GRCh38]
Chr8:145638329 [GRCh37]
Chr8:8q24.3		 benign
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_130849.4(SLC39A4):c.1898C>T (p.Thr633Ile) single nucleotide variant not provided [RCV001770835] Chr8:144412584 [GRCh38]
Chr8:145637968 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.805-24T>C single nucleotide variant not provided [RCV001816501] Chr8:144414920 [GRCh38]
Chr8:145640304 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.184T>C (p.Cys62Arg) single nucleotide variant not specified [RCV004799925] Chr8:144416606 [GRCh38]
Chr8:145641990 [GRCh37]
Chr8:8q24.3		 uncertain significance
Single allele duplication Recombinant 8 syndrome [RCV004801486] Chr8:141711312..145138635 [GRCh38]
Chr8:8q24.3		 likely pathogenic
NC_000008.10:g.(?_145637797)_(145642229_?)dup duplication not specified [RCV004800275] Chr8:145637797..145642229 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.413del (p.Pro138fs) deletion not provided [RCV001928920] Chr8:144415871 [GRCh38]
Chr8:145641255 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.475-2A>G single nucleotide variant Hereditary acrodermatitis enteropathica [RCV002497946]|not provided [RCV002024994] Chr8:144415421 [GRCh38]
Chr8:145640805 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1568G>A (p.Trp523Ter) single nucleotide variant not provided [RCV001874876] Chr8:144413296 [GRCh38]
Chr8:145638680 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1287+1G>T single nucleotide variant not provided [RCV002025788] Chr8:144413957 [GRCh38]
Chr8:145639341 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.534_546del (p.Ala179fs) deletion not provided [RCV001914488] Chr8:144415348..144415360 [GRCh38]
Chr8:145640732..145640744 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.192+19G>A single nucleotide variant Hereditary acrodermatitis enteropathica [RCV003485754]|not provided [RCV001970139] Chr8:144416579 [GRCh38]
Chr8:145641963 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_130849.4(SLC39A4):c.447C>A (p.Ala149=) single nucleotide variant not provided [RCV001982907] Chr8:144415837 [GRCh38]
Chr8:145641221 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1396del (p.His466fs) deletion not provided [RCV001909720] Chr8:144413773 [GRCh38]
Chr8:145639157 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1628-2A>G single nucleotide variant not provided [RCV002020720] Chr8:144412948 [GRCh38]
Chr8:145638332 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1462_1474+1del deletion not provided [RCV002007609] Chr8:144413512..144413525 [GRCh38]
Chr8:145638896..145638909 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
NM_130849.4(SLC39A4):c.977-1G>A single nucleotide variant Hereditary acrodermatitis enteropathica [RCV002492239]|not provided [RCV002005676] Chr8:144414435 [GRCh38]
Chr8:145639819 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.948del (p.Val317fs) deletion not provided [RCV001908671] Chr8:144414753 [GRCh38]
Chr8:145640137 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.908dup (p.Gln304fs) duplication not provided [RCV001911216] Chr8:144414792..144414793 [GRCh38]
Chr8:145640176..145640177 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1475-1G>T single nucleotide variant not provided [RCV002029439] Chr8:144413390 [GRCh38]
Chr8:145638774 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1132del (p.Leu378fs) deletion not provided [RCV001943139] Chr8:144414279 [GRCh38]
Chr8:145639663 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.155_156dup (p.Asp53fs) duplication not provided [RCV001924617] Chr8:144416633..144416634 [GRCh38]
Chr8:145642017..145642018 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1174_1195del (p.Glu392fs) deletion not provided [RCV001999851] Chr8:144414050..144414071 [GRCh38]
Chr8:145639434..145639455 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.668-2A>G single nucleotide variant not provided [RCV002048688] Chr8:144415112 [GRCh38]
Chr8:145640496 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1396dup (p.His466fs) duplication not provided [RCV001940198] Chr8:144413772..144413773 [GRCh38]
Chr8:145639156..145639157 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.862del (p.Gly287_Val288insTer) deletion Hereditary acrodermatitis enteropathica [RCV002497883]|not provided [RCV001951254] Chr8:144414839 [GRCh38]
Chr8:145640223 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_130849.4(SLC39A4):c.976+1G>A single nucleotide variant not provided [RCV001998256] Chr8:144414724 [GRCh38]
Chr8:145640108 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1287+2T>C single nucleotide variant not provided [RCV001961685] Chr8:144413956 [GRCh38]
Chr8:145639340 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1202G>A (p.Trp401Ter) single nucleotide variant not provided [RCV001881535] Chr8:144414043 [GRCh38]
Chr8:145639427 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1763G>A (p.Trp588Ter) single nucleotide variant not provided [RCV001972649] Chr8:144412811 [GRCh38]
Chr8:145638195 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.983_992del (p.Leu328fs) deletion not provided [RCV001956374] Chr8:144414419..144414428 [GRCh38]
Chr8:145639803..145639812 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.333_337del (p.Cys111_Asp113delinsTer) deletion not provided [RCV001877769] Chr8:144415947..144415951 [GRCh38]
Chr8:145641331..145641335 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.193-2A>G single nucleotide variant not provided [RCV001973274] Chr8:144416093 [GRCh38]
Chr8:145641477 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1287+1G>A single nucleotide variant not provided [RCV001977110] Chr8:144413957 [GRCh38]
Chr8:145639341 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.309C>A (p.Tyr103Ter) single nucleotide variant not provided [RCV001993180] Chr8:144415975 [GRCh38]
Chr8:145641359 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_144295143)_(145701139_?)del deletion Brown-Vialetto-van Laere syndrome 2 [RCV001939634]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001962911] Chr8:144295143..145701139 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.667+1G>T single nucleotide variant not provided [RCV001995820] Chr8:144415226 [GRCh38]
Chr8:145640610 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.646G>T (p.Glu216Ter) single nucleotide variant not provided [RCV001880642] Chr8:144415248 [GRCh38]
Chr8:145640632 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1357C>T (p.Gln453Ter) single nucleotide variant not provided [RCV001997285] Chr8:144413812 [GRCh38]
Chr8:145639196 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.254dup (p.Val87fs) duplication not provided [RCV001907100] Chr8:144416029..144416030 [GRCh38]
Chr8:145641413..145641414 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.88del (p.Ser30fs) deletion not provided [RCV001915734] Chr8:144416702 [GRCh38]
Chr8:145642086 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3		 uncertain significance|no classifications from unflagged records
NM_130849.4(SLC39A4):c.681G>A (p.Leu227=) single nucleotide variant not provided [RCV002085115] Chr8:144415097 [GRCh38]
Chr8:145640481 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1485A>G (p.Leu495=) single nucleotide variant not provided [RCV002088421] Chr8:144413379 [GRCh38]
Chr8:145638763 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1806C>G (p.Leu602=) single nucleotide variant not provided [RCV002206836] Chr8:144412768 [GRCh38]
Chr8:145638152 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.642C>T (p.Ser214=) single nucleotide variant not provided [RCV002084729] Chr8:144415252 [GRCh38]
Chr8:145640636 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.258G>C (p.Pro86=) single nucleotide variant not provided [RCV002186606] Chr8:144416026 [GRCh38]
Chr8:145641410 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-4A>G single nucleotide variant not provided [RCV002207164] Chr8:144416095 [GRCh38]
Chr8:145641479 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1275C>G (p.Pro425=) single nucleotide variant not provided [RCV002169251] Chr8:144413970 [GRCh38]
Chr8:145639354 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1305C>T (p.Pro435=) single nucleotide variant not provided [RCV002072857] Chr8:144413864 [GRCh38]
Chr8:145639248 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.559C>T (p.Leu187=) single nucleotide variant not provided [RCV002125197] Chr8:144415335 [GRCh38]
Chr8:145640719 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.699G>A (p.Val233=) single nucleotide variant not provided [RCV002167431] Chr8:144415079 [GRCh38]
Chr8:145640463 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.45G>A (p.Val15=) single nucleotide variant not provided [RCV002128369] Chr8:144416745 [GRCh38]
Chr8:145642129 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.579G>A (p.Gly193=) single nucleotide variant not provided [RCV002146925] Chr8:144415315 [GRCh38]
Chr8:145640699 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.977-5C>T single nucleotide variant not provided [RCV002075878] Chr8:144414439 [GRCh38]
Chr8:145639823 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.735C>T (p.His245=) single nucleotide variant not provided [RCV002168006] Chr8:144415043 [GRCh38]
Chr8:145640427 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-9A>T single nucleotide variant not provided [RCV002125496] Chr8:144414905 [GRCh38]
Chr8:145640289 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1816-9G>A single nucleotide variant not provided [RCV002168483] Chr8:144412675 [GRCh38]
Chr8:145638059 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1860C>T (p.Leu620=) single nucleotide variant not provided [RCV002185774] Chr8:144412622 [GRCh38]
Chr8:145638006 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.9C>T (p.Ser3=) single nucleotide variant not provided [RCV002207304] Chr8:144416781 [GRCh38]
Chr8:145642165 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1806C>T (p.Leu602=) single nucleotide variant not provided [RCV002091109] Chr8:144412768 [GRCh38]
Chr8:145638152 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.639C>T (p.His213=) single nucleotide variant not provided [RCV002189348] Chr8:144415255 [GRCh38]
Chr8:145640639 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1470C>T (p.Ser490=) single nucleotide variant not provided [RCV002124451] Chr8:144413517 [GRCh38]
Chr8:145638901 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.573G>A (p.Arg191=) single nucleotide variant not provided [RCV002189600] Chr8:144415321 [GRCh38]
Chr8:145640705 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1899C>T (p.Thr633=) single nucleotide variant not provided [RCV002104685] Chr8:144412583 [GRCh38]
Chr8:145637967 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.312C>T (p.Leu104=) single nucleotide variant not provided [RCV002145028] Chr8:144415972 [GRCh38]
Chr8:145641356 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1093C>T (p.Leu365=) single nucleotide variant not provided [RCV002189906] Chr8:144414318 [GRCh38]
Chr8:145639702 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-4G>A single nucleotide variant not provided [RCV002209698] Chr8:144412950 [GRCh38]
Chr8:145638334 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.36T>C (p.Leu12=) single nucleotide variant not provided [RCV002165758] Chr8:144416754 [GRCh38]
Chr8:145642138 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1176A>G (p.Glu392=) single nucleotide variant not provided [RCV002166173] Chr8:144414069 [GRCh38]
Chr8:145639453 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.864G>A (p.Val288=) single nucleotide variant not provided [RCV002074772] Chr8:144414837 [GRCh38]
Chr8:145640221 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.636G>A (p.Gln212=) single nucleotide variant not provided [RCV002147814] Chr8:144415258 [GRCh38]
Chr8:145640642 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.390C>G (p.Leu130=) single nucleotide variant not provided [RCV002073546] Chr8:144415894 [GRCh38]
Chr8:145641278 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1884G>A (p.Leu628=) single nucleotide variant not provided [RCV002111462] Chr8:144412598 [GRCh38]
Chr8:145637982 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.984G>T (p.Leu328=) single nucleotide variant not provided [RCV002216138] Chr8:144414427 [GRCh38]
Chr8:145639811 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.651C>G (p.Val217=) single nucleotide variant not provided [RCV002153683] Chr8:144415243 [GRCh38]
Chr8:145640627 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.567T>C (p.His189=) single nucleotide variant not provided [RCV002197429] Chr8:144415327 [GRCh38]
Chr8:145640711 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.976+9C>T single nucleotide variant not provided [RCV002096102] Chr8:144414716 [GRCh38]
Chr8:145640100 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-9T>C single nucleotide variant not provided [RCV002174270] Chr8:144416100 [GRCh38]
Chr8:145641484 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1506G>T (p.Leu502=) single nucleotide variant not provided [RCV002077032] Chr8:144413358 [GRCh38]
Chr8:145638742 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1446G>A (p.Leu482=) single nucleotide variant not provided [RCV002214914] Chr8:144413541 [GRCh38]
Chr8:145638925 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1419+10C>T single nucleotide variant not provided [RCV002213585] Chr8:144413740 [GRCh38]
Chr8:145639124 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.978G>A (p.Arg326=) single nucleotide variant not provided [RCV002211821] Chr8:144414433 [GRCh38]
Chr8:145639817 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1707C>T (p.Ala569=) single nucleotide variant not provided [RCV002077518] Chr8:144412867 [GRCh38]
Chr8:145638251 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1287+9T>C single nucleotide variant not provided [RCV002095644] Chr8:144413949 [GRCh38]
Chr8:145639333 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1288-10A>G single nucleotide variant not provided [RCV002175040] Chr8:144413891 [GRCh38]
Chr8:145639275 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.795G>A (p.Val265=) single nucleotide variant not provided [RCV002197502] Chr8:144414983 [GRCh38]
Chr8:145640367 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.414G>C (p.Pro138=) single nucleotide variant not provided [RCV002211778] Chr8:144415870 [GRCh38]
Chr8:145641254 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.288C>G (p.Leu96=) single nucleotide variant not provided [RCV002175118] Chr8:144415996 [GRCh38]
Chr8:145641380 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.668-4C>A single nucleotide variant not provided [RCV002173402] Chr8:144415114 [GRCh38]
Chr8:145640498 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1474+8C>G single nucleotide variant not provided [RCV002195669] Chr8:144413505 [GRCh38]
Chr8:145638889 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-9C>T single nucleotide variant not provided [RCV002115111] Chr8:144412955 [GRCh38]
Chr8:145638339 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.81T>C (p.Gly27=) single nucleotide variant not provided [RCV002076084] Chr8:144416709 [GRCh38]
Chr8:145642093 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1420-6T>C single nucleotide variant not provided [RCV002116503] Chr8:144413573 [GRCh38]
Chr8:145638957 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1425G>T (p.Ala475=) single nucleotide variant not provided [RCV002190415] Chr8:144413562 [GRCh38]
Chr8:145638946 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1923C>T (p.Tyr641=) single nucleotide variant not provided [RCV002194561] Chr8:144412559 [GRCh38]
Chr8:145637943 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1475-8G>A single nucleotide variant SLC39A4-related disorder [RCV003951234]|not provided [RCV002150855] Chr8:144413397 [GRCh38]
Chr8:145638781 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1420-10C>G single nucleotide variant not provided [RCV002086274] Chr8:144413577 [GRCh38]
Chr8:145638961 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.564C>T (p.Asp188=) single nucleotide variant not provided [RCV002075354] Chr8:144415330 [GRCh38]
Chr8:145640714 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.456C>G (p.Ala152=) single nucleotide variant not provided [RCV002133925] Chr8:144415828 [GRCh38]
Chr8:145641212 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.861G>A (p.Gly287=) single nucleotide variant not provided [RCV002172192] Chr8:144414840 [GRCh38]
Chr8:145640224 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1475-10G>A single nucleotide variant not provided [RCV002114462] Chr8:144413399 [GRCh38]
Chr8:145638783 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1596C>T (p.Ala532=) single nucleotide variant not provided [RCV002114239] Chr8:144413268 [GRCh38]
Chr8:145638652 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.354C>G (p.Leu118=) single nucleotide variant not provided [RCV002174623] Chr8:144415930 [GRCh38]
Chr8:145641314 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.903C>T (p.Leu301=) single nucleotide variant not provided [RCV002097048] Chr8:144414798 [GRCh38]
Chr8:145640182 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1420-7C>T single nucleotide variant not provided [RCV002104952] Chr8:144413574 [GRCh38]
Chr8:145638958 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.994C>T (p.Leu332=) single nucleotide variant not provided [RCV002157253] Chr8:144414417 [GRCh38]
Chr8:145639801 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1150-4C>T single nucleotide variant not provided [RCV002083186] Chr8:144414099 [GRCh38]
Chr8:145639483 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1023G>C (p.Ala341=) single nucleotide variant not provided [RCV002081634] Chr8:144414388 [GRCh38]
Chr8:145639772 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.225C>A (p.Gly75=) single nucleotide variant not provided [RCV002102462] Chr8:144416059 [GRCh38]
Chr8:145641443 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1542C>G (p.Ala514=) single nucleotide variant not provided [RCV002204261] Chr8:144413322 [GRCh38]
Chr8:145638706 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1816-4T>A single nucleotide variant not provided [RCV002202472] Chr8:144412670 [GRCh38]
Chr8:145638054 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.668-9C>G single nucleotide variant not provided [RCV002160963] Chr8:144415119 [GRCh38]
Chr8:145640503 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1464A>G (p.Arg488=) single nucleotide variant not provided [RCV002199873] Chr8:144413523 [GRCh38]
Chr8:145638907 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.438G>A (p.Arg146=) single nucleotide variant not provided [RCV002175448] Chr8:144415846 [GRCh38]
Chr8:145641230 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.468C>G (p.Pro156=) single nucleotide variant not provided [RCV002160015] Chr8:144415816 [GRCh38]
Chr8:145641200 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.825C>T (p.Asp275=) single nucleotide variant SLC39A4-related disorder [RCV003903385]|not provided [RCV002119944] Chr8:144414876 [GRCh38]
Chr8:145640260 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.139C>T (p.Leu47=) single nucleotide variant not provided [RCV002163681] Chr8:144416651 [GRCh38]
Chr8:145642035 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1386C>T (p.Pro462=) single nucleotide variant not provided [RCV002156551] Chr8:144413783 [GRCh38]
Chr8:145639167 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-8G>C single nucleotide variant not provided [RCV002175979] Chr8:144412954 [GRCh38]
Chr8:145638338 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1932C>T (p.Asp644=) single nucleotide variant not provided [RCV002158477] Chr8:144412550 [GRCh38]
Chr8:145637934 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1857C>T (p.Leu619=) single nucleotide variant not provided [RCV002160883] Chr8:144412625 [GRCh38]
Chr8:145638009 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.384C>T (p.Ala128=) single nucleotide variant not provided [RCV002157000] Chr8:144415900 [GRCh38]
Chr8:145641284 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1816-4T>C single nucleotide variant not provided [RCV002184248] Chr8:144412670 [GRCh38]
Chr8:145638054 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1768C>T (p.Leu590=) single nucleotide variant not provided [RCV002143916] Chr8:144412806 [GRCh38]
Chr8:145638190 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1128T>G (p.Ala376=) single nucleotide variant not provided [RCV002182195] Chr8:144414283 [GRCh38]
Chr8:145639667 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-3dup duplication not provided [RCV002144051] Chr8:144414898..144414899 [GRCh38]
Chr8:145640282..145640283 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1443G>A (p.Leu481=) single nucleotide variant not provided [RCV002175540] Chr8:144413544 [GRCh38]
Chr8:145638928 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.60G>A (p.Ala20=) single nucleotide variant not provided [RCV002161365] Chr8:144416730 [GRCh38]
Chr8:145642114 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1905G>T (p.Leu635=) single nucleotide variant not provided [RCV002161571] Chr8:144412577 [GRCh38]
Chr8:145637961 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1686C>T (p.Asn562=) single nucleotide variant not provided [RCV002182976] Chr8:144412888 [GRCh38]
Chr8:145638272 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1458C>T (p.Pro486=) single nucleotide variant not provided [RCV002179879] Chr8:144413529 [GRCh38]
Chr8:145638913 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.924C>T (p.Ala308=) single nucleotide variant not provided [RCV002179836] Chr8:144414777 [GRCh38]
Chr8:145640161 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.411C>G (p.Thr137=) single nucleotide variant not provided [RCV002176445] Chr8:144415873 [GRCh38]
Chr8:145641257 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1278G>A (p.Arg426=) single nucleotide variant not provided [RCV002181576] Chr8:144413967 [GRCh38]
Chr8:145639351 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.162T>C (p.Arg54=) single nucleotide variant not provided [RCV002138981] Chr8:144416628 [GRCh38]
Chr8:145642012 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1158G>A (p.Gly386=) single nucleotide variant not provided [RCV002135528] Chr8:144414087 [GRCh38]
Chr8:145639471 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.726T>C (p.Ser242=) single nucleotide variant not provided [RCV002198002] Chr8:144415052 [GRCh38]
Chr8:145640436 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1893C>T (p.Gly631=) single nucleotide variant not provided [RCV002199943] Chr8:144412589 [GRCh38]
Chr8:145637973 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1320C>T (p.Ser440=) single nucleotide variant not provided [RCV002177850] Chr8:144413849 [GRCh38]
Chr8:145639233 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.471G>A (p.Lys157=) single nucleotide variant not provided [RCV002118536] Chr8:144415813 [GRCh38]
Chr8:145641197 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.315C>T (p.Ser105=) single nucleotide variant not provided [RCV002156917] Chr8:144415969 [GRCh38]
Chr8:145641353 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NM_130849.4(SLC39A4):c.1260C>T (p.Phe420=) single nucleotide variant not provided [RCV002162511] Chr8:144413985 [GRCh38]
Chr8:145639369 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1836A>C (p.Val612=) single nucleotide variant not provided [RCV002200694] Chr8:144412646 [GRCh38]
Chr8:145638030 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.135C>A (p.Gly45=) single nucleotide variant not provided [RCV002140073] Chr8:144416655 [GRCh38]
Chr8:145642039 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1824G>T (p.Ala608=) single nucleotide variant not provided [RCV002198801] Chr8:144412658 [GRCh38]
Chr8:145638042 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1818C>A (p.Leu606=) single nucleotide variant not provided [RCV002182201] Chr8:144412664 [GRCh38]
Chr8:145638048 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1353C>T (p.Ser451=) single nucleotide variant not provided [RCV003112848] Chr8:144413816 [GRCh38]
Chr8:145639200 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1667_1668del (p.Arg556fs) microsatellite not provided [RCV003121874] Chr8:144412906..144412907 [GRCh38]
Chr8:145638290..145638291 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_145639206)_(145643123_?)del deletion not provided [RCV003123038] Chr8:145639206..145643123 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_145637954)_(145644386_?)del deletion not provided [RCV003123039] Chr8:145637954..145644386 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.857C>T (p.Ala286Val) single nucleotide variant Inborn genetic diseases [RCV003261489] Chr8:144414844 [GRCh38]
Chr8:145640228 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.541G>A (p.Gly181Ser) single nucleotide variant Inborn genetic diseases [RCV003259626] Chr8:144415353 [GRCh38]
Chr8:145640737 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.947_948dup (p.Val317fs) duplication not provided [RCV002465966] Chr8:144414752..144414753 [GRCh38]
Chr8:145640136..145640137 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_130849.4(SLC39A4):c.1674A>G (p.Ala558=) single nucleotide variant not provided [RCV002862285] Chr8:144412900 [GRCh38]
Chr8:145638284 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1316G>T (p.Ser439Ile) single nucleotide variant Inborn genetic diseases [RCV002859934] Chr8:144413853 [GRCh38]
Chr8:145639237 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.59C>T (p.Ala20Val) single nucleotide variant Inborn genetic diseases [RCV002860137] Chr8:144416731 [GRCh38]
Chr8:145642115 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.439A>T (p.Met147Leu) single nucleotide variant Inborn genetic diseases [RCV002901990] Chr8:144415845 [GRCh38]
Chr8:145641229 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1672G>A (p.Ala558Thr) single nucleotide variant Inborn genetic diseases [RCV002992619] Chr8:144412902 [GRCh38]
Chr8:145638286 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1267C>T (p.Leu423=) single nucleotide variant not provided [RCV002837701] Chr8:144413978 [GRCh38]
Chr8:145639362 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.661C>T (p.Leu221=) single nucleotide variant not provided [RCV003095557] Chr8:144415233 [GRCh38]
Chr8:145640617 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1224C>A (p.Ala408=) single nucleotide variant not provided [RCV002866133] Chr8:144414021 [GRCh38]
Chr8:145639405 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1288-5C>T single nucleotide variant not provided [RCV002907900] Chr8:144413886 [GRCh38]
Chr8:145639270 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1482G>T (p.Arg494Ser) single nucleotide variant Inborn genetic diseases [RCV002778559] Chr8:144413382 [GRCh38]
Chr8:145638766 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1628-6C>A single nucleotide variant not provided [RCV002815969] Chr8:144412952 [GRCh38]
Chr8:145638336 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.579G>C (p.Gly193=) single nucleotide variant not provided [RCV002996115] Chr8:144415315 [GRCh38]
Chr8:145640699 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.343C>T (p.Arg115Trp) single nucleotide variant Inborn genetic diseases [RCV002727404] Chr8:144415941 [GRCh38]
Chr8:145641325 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.180G>A (p.Gly60=) single nucleotide variant not provided [RCV002815312] Chr8:144416610 [GRCh38]
Chr8:145641994 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1732G>T (p.Ala578Ser) single nucleotide variant Inborn genetic diseases [RCV002969777] Chr8:144412842 [GRCh38]
Chr8:145638226 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1303C>A (p.Pro435Thr) single nucleotide variant Inborn genetic diseases [RCV002817196] Chr8:144413866 [GRCh38]
Chr8:145639250 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1410C>A (p.Arg470=) single nucleotide variant not provided [RCV002881218] Chr8:144413759 [GRCh38]
Chr8:145639143 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.844C>T (p.Leu282=) single nucleotide variant not provided [RCV002882036] Chr8:144414857 [GRCh38]
Chr8:145640241 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.970T>C (p.Ser324Pro) single nucleotide variant Inborn genetic diseases [RCV002883299] Chr8:144414731 [GRCh38]
Chr8:145640115 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.811C>T (p.Leu271=) single nucleotide variant not provided [RCV003016655] Chr8:144414890 [GRCh38]
Chr8:145640274 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.448C>T (p.Arg150Trp) single nucleotide variant Inborn genetic diseases [RCV002773341] Chr8:144415836 [GRCh38]
Chr8:145641220 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.805-5C>G single nucleotide variant not provided [RCV002740507] Chr8:144414901 [GRCh38]
Chr8:145640285 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1734G>T (p.Ala578=) single nucleotide variant not provided [RCV002780785] Chr8:144412840 [GRCh38]
Chr8:145638224 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1122G>A (p.Gly374=) single nucleotide variant not provided [RCV002785756] Chr8:144414289 [GRCh38]
Chr8:145639673 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.321C>A (p.Pro107=) single nucleotide variant not provided [RCV002871419] Chr8:144415963 [GRCh38]
Chr8:145641347 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1627+16G>A single nucleotide variant not provided [RCV002640505] Chr8:144413221 [GRCh38]
Chr8:145638605 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1491C>T (p.Pro497=) single nucleotide variant not provided [RCV003055570] Chr8:144413373 [GRCh38]
Chr8:145638757 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.796_797dup (p.Trp266fs) microsatellite not provided [RCV002846667] Chr8:144414980..144414981 [GRCh38]
Chr8:145640364..145640365 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1288-7C>G single nucleotide variant not provided [RCV003018448] Chr8:144413888 [GRCh38]
Chr8:145639272 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1242C>T (p.Phe414=) single nucleotide variant not provided [RCV003037536] Chr8:144414003 [GRCh38]
Chr8:145639387 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-6C>T single nucleotide variant not provided [RCV002795181] Chr8:144416097 [GRCh38]
Chr8:145641481 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.663G>T (p.Leu221=) single nucleotide variant not provided [RCV002705701] Chr8:144415231 [GRCh38]
Chr8:145640615 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1488G>A (p.Leu496=) single nucleotide variant not provided [RCV003038109] Chr8:144413376 [GRCh38]
Chr8:145638760 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.976+7G>A single nucleotide variant not provided [RCV002570983] Chr8:144414718 [GRCh38]
Chr8:145640102 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.924C>G (p.Ala308=) single nucleotide variant not provided [RCV002800041] Chr8:144414777 [GRCh38]
Chr8:145640161 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1844C>T (p.Pro615Leu) single nucleotide variant Inborn genetic diseases [RCV002799454] Chr8:144412638 [GRCh38]
Chr8:145638022 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.258G>T (p.Pro86=) single nucleotide variant not provided [RCV002636651] Chr8:144416026 [GRCh38]
Chr8:145641410 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1360C>T (p.Leu454=) single nucleotide variant not provided [RCV003078295] Chr8:144413809 [GRCh38]
Chr8:145639193 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1452T>G (p.Pro484=) single nucleotide variant not provided [RCV002866349] Chr8:144413535 [GRCh38]
Chr8:145638919 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.464C>T (p.Thr155Ile) single nucleotide variant Inborn genetic diseases [RCV002661184] Chr8:144415820 [GRCh38]
Chr8:145641204 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.399C>T (p.Pro133=) single nucleotide variant not provided [RCV003036268] Chr8:144415885 [GRCh38]
Chr8:145641269 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-3dup duplication not provided [RCV002706467] Chr8:144415421..144415422 [GRCh38]
Chr8:145640805..145640806 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1559C>T (p.Ala520Val) single nucleotide variant Inborn genetic diseases [RCV002782705] Chr8:144413305 [GRCh38]
Chr8:145638689 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1071C>G (p.Thr357=) single nucleotide variant not provided [RCV003002066] Chr8:144414340 [GRCh38]
Chr8:145639724 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1488G>T (p.Leu496=) single nucleotide variant not provided [RCV002706361] Chr8:144413376 [GRCh38]
Chr8:145638760 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.525T>C (p.Ala175=) single nucleotide variant not provided [RCV003018565] Chr8:144415369 [GRCh38]
Chr8:145640753 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-12G>A single nucleotide variant not provided [RCV002637884] Chr8:144414908 [GRCh38]
Chr8:145640292 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.547C>T (p.Leu183=) single nucleotide variant not provided [RCV003082523] Chr8:144415347 [GRCh38]
Chr8:145640731 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1140G>T (p.Leu380=) single nucleotide variant not provided [RCV002829417] Chr8:144414271 [GRCh38]
Chr8:145639655 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.513G>A (p.Val171=) single nucleotide variant not provided [RCV002876624] Chr8:144415381 [GRCh38]
Chr8:145640765 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1838G>A (p.Arg613Gln) single nucleotide variant Inborn genetic diseases [RCV002827047] Chr8:144412644 [GRCh38]
Chr8:145638028 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1287+10C>A single nucleotide variant not provided [RCV002830079] Chr8:144413948 [GRCh38]
Chr8:145639332 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.577G>A (p.Gly193Arg) single nucleotide variant Inborn genetic diseases [RCV002744704] Chr8:144415317 [GRCh38]
Chr8:145640701 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1653G>T (p.Ala551=) single nucleotide variant not provided [RCV003024436] Chr8:144412921 [GRCh38]
Chr8:145638305 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1023_1475-7del deletion Inborn genetic diseases [RCV002697627] Chr8:144413396..144414388 [GRCh38]
Chr8:145638780..145639772 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1437G>T (p.Pro479=) single nucleotide variant not provided [RCV002851706] Chr8:144413550 [GRCh38]
Chr8:145638934 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1493A>G (p.Tyr498Cys) single nucleotide variant Inborn genetic diseases [RCV002742347] Chr8:144413371 [GRCh38]
Chr8:145638755 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1251G>A (p.Glu417=) single nucleotide variant not provided [RCV003024344] Chr8:144413994 [GRCh38]
Chr8:145639378 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1584C>T (p.Ala528=) single nucleotide variant not provided [RCV002982714] Chr8:144413280 [GRCh38]
Chr8:145638664 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1149+6_1149+7insT insertion not provided [RCV002928473] Chr8:144414255..144414256 [GRCh38]
Chr8:145639639..145639640 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1224del (p.Leu410fs) deletion not provided [RCV003056899] Chr8:144414021 [GRCh38]
Chr8:145639405 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1334G>T (p.Gly445Val) single nucleotide variant Inborn genetic diseases [RCV002873098] Chr8:144413835 [GRCh38]
Chr8:145639219 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.49G>T (p.Val17Leu) single nucleotide variant Inborn genetic diseases [RCV002743950] Chr8:144416741 [GRCh38]
Chr8:145642125 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.6G>C (p.Ala2=) single nucleotide variant not provided [RCV002894879] Chr8:144416784 [GRCh38]
Chr8:145642168 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.309C>T (p.Tyr103=) single nucleotide variant not provided [RCV003026016] Chr8:144415975 [GRCh38]
Chr8:145641359 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1543G>T (p.Val515Leu) single nucleotide variant Inborn genetic diseases [RCV002805138] Chr8:144413321 [GRCh38]
Chr8:145638705 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1150-9A>G single nucleotide variant not provided [RCV002932731] Chr8:144414104 [GRCh38]
Chr8:145639488 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1248_1249insA (p.Glu417fs) insertion not provided [RCV003059590] Chr8:144413996..144413997 [GRCh38]
Chr8:145639380..145639381 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.115C>T (p.Leu39=) single nucleotide variant not provided [RCV003022950] Chr8:144416675 [GRCh38]
Chr8:145642059 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.867_886del (p.Pro290fs) deletion not provided [RCV002786465] Chr8:144414815..144414834 [GRCh38]
Chr8:145640199..145640218 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.33G>A (p.Leu11=) single nucleotide variant not provided [RCV002894055] Chr8:144416757 [GRCh38]
Chr8:145642141 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.18_22del (p.Leu7fs) deletion not provided [RCV002805423] Chr8:144416768..144416772 [GRCh38]
Chr8:145642152..145642156 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1617A>G (p.Pro539=) single nucleotide variant not provided [RCV002982172] Chr8:144413247 [GRCh38]
Chr8:145638631 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1296G>A (p.Glu432=) single nucleotide variant not provided [RCV002801392] Chr8:144413873 [GRCh38]
Chr8:145639257 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.106dup (p.Gln36fs) duplication not provided [RCV002894183] Chr8:144416683..144416684 [GRCh38]
Chr8:145642067..145642068 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.11:g.144413388CT[1] microsatellite not provided [RCV003031874] Chr8:144413388..144413389 [GRCh38]
Chr8:145638772..145638773 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1444C>T (p.Leu482=) single nucleotide variant not provided [RCV002602670] Chr8:144413543 [GRCh38]
Chr8:145638927 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.540C>A (p.Gly180=) single nucleotide variant SLC39A4-related disorder [RCV003963364]|not provided [RCV002806513] Chr8:144415354 [GRCh38]
Chr8:145640738 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.51G>A (p.Val17=) single nucleotide variant not provided [RCV002715776] Chr8:144416739 [GRCh38]
Chr8:145642123 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1474+7C>T single nucleotide variant not provided [RCV003010308] Chr8:144413506 [GRCh38]
Chr8:145638890 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1001C>T (p.Thr334Met) single nucleotide variant Inborn genetic diseases [RCV002879188] Chr8:144414410 [GRCh38]
Chr8:145639794 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.867C>T (p.Thr289=) single nucleotide variant not provided [RCV003029097] Chr8:144414834 [GRCh38]
Chr8:145640218 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.960G>A (p.Gln320=) single nucleotide variant not provided [RCV003044947] Chr8:144414741 [GRCh38]
Chr8:145640125 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.112G>A (p.Ala38Thr) single nucleotide variant Inborn genetic diseases [RCV002702757] Chr8:144416678 [GRCh38]
Chr8:145642062 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.730C>T (p.Arg244Trp) single nucleotide variant Inborn genetic diseases [RCV002714748] Chr8:144415048 [GRCh38]
Chr8:145640432 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1662C>A (p.Ser554=) single nucleotide variant not provided [RCV002876900] Chr8:144412912 [GRCh38]
Chr8:145638296 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.136G>A (p.Gly46Ser) single nucleotide variant Inborn genetic diseases [RCV002807829] Chr8:144416654 [GRCh38]
Chr8:145642038 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.977-6C>T single nucleotide variant not provided [RCV002716244] Chr8:144414440 [GRCh38]
Chr8:145639824 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.687G>A (p.Gln229=) single nucleotide variant not provided [RCV003009183] Chr8:144415091 [GRCh38]
Chr8:145640475 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1474+10G>C single nucleotide variant not provided [RCV003029156] Chr8:144413503 [GRCh38]
Chr8:145638887 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.977-2A>C single nucleotide variant not provided [RCV003047114] Chr8:144414436 [GRCh38]
Chr8:145639820 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1074C>T (p.His358=) single nucleotide variant not provided [RCV003027027] Chr8:144414337 [GRCh38]
Chr8:145639721 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.822G>A (p.Arg274=) single nucleotide variant not provided [RCV003086698] Chr8:144414879 [GRCh38]
Chr8:145640263 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.705G>A (p.Arg235=) single nucleotide variant not provided [RCV002675969] Chr8:144415073 [GRCh38]
Chr8:145640457 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.999C>T (p.Ala333=) single nucleotide variant not provided [RCV003045381] Chr8:144414412 [GRCh38]
Chr8:145639796 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1380G>A (p.Arg460=) single nucleotide variant not provided [RCV002671824] Chr8:144413789 [GRCh38]
Chr8:145639173 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.840T>C (p.Tyr280=) single nucleotide variant not provided [RCV002632135] Chr8:144414861 [GRCh38]
Chr8:145640245 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.192+19G>T single nucleotide variant not provided [RCV003065453]|not specified [RCV004690358] Chr8:144416579 [GRCh38]
Chr8:145641963 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-8T>C single nucleotide variant not provided [RCV002715470] Chr8:144415427 [GRCh38]
Chr8:145640811 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1397dup (p.His466fs) duplication not provided [RCV003030620] Chr8:144413771..144413772 [GRCh38]
Chr8:145639155..145639156 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1872C>T (p.His624=) single nucleotide variant not provided [RCV002856570] Chr8:144412610 [GRCh38]
Chr8:145637994 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1464dup (p.Leu489fs) duplication not provided [RCV002834482] Chr8:144413522..144413523 [GRCh38]
Chr8:145638906..145638907 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.255C>T (p.Gly85=) single nucleotide variant not provided [RCV002605233] Chr8:144416029 [GRCh38]
Chr8:145641413 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1530C>T (p.Ala510=) single nucleotide variant not provided [RCV003067440] Chr8:144413334 [GRCh38]
Chr8:145638718 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.261C>T (p.Val87=) single nucleotide variant not provided [RCV002725973] Chr8:144416023 [GRCh38]
Chr8:145641407 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1386del (p.Lys463fs) deletion not provided [RCV002583572] Chr8:144413783 [GRCh38]
Chr8:145639167 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1288-8C>A single nucleotide variant not provided [RCV002634896] Chr8:144413889 [GRCh38]
Chr8:145639273 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1104A>T (p.Ala368=) single nucleotide variant not provided [RCV002633780] Chr8:144414307 [GRCh38]
Chr8:145639691 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1101G>A (p.Leu367=) single nucleotide variant not provided [RCV003069422] Chr8:144414310 [GRCh38]
Chr8:145639694 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1410C>T (p.Arg470=) single nucleotide variant not provided [RCV002605712] Chr8:144413759 [GRCh38]
Chr8:145639143 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1761C>T (p.Ala587=) single nucleotide variant not provided [RCV002610795] Chr8:144412813 [GRCh38]
Chr8:145638197 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1494T>C (p.Tyr498=) single nucleotide variant not provided [RCV002603338] Chr8:144413370 [GRCh38]
Chr8:145638754 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1508G>T (p.Gly503Val) single nucleotide variant Inborn genetic diseases [RCV002722827] Chr8:144413356 [GRCh38]
Chr8:145638740 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1326C>A (p.Ser442Arg) single nucleotide variant Inborn genetic diseases [RCV003215483] Chr8:144413843 [GRCh38]
Chr8:145639227 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.371A>G (p.Asp124Gly) single nucleotide variant Inborn genetic diseases [RCV003203171] Chr8:144415913 [GRCh38]
Chr8:145641297 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.178G>A (p.Gly60Arg) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV003136777] Chr8:144416612 [GRCh38]
Chr8:145641996 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1888G>C (p.Gly630Arg) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV003134068] Chr8:144412594 [GRCh38]
Chr8:145637978 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1534G>T (p.Gly512Trp) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV003326714] Chr8:144413330 [GRCh38]
Chr8:145638714 [GRCh37]
Chr8:8q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_130849.4(SLC39A4):c.1021G>T (p.Ala341Ser) single nucleotide variant Inborn genetic diseases [RCV003386199] Chr8:144414390 [GRCh38]
Chr8:145639774 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1747G>A (p.Glu583Lys) single nucleotide variant Inborn genetic diseases [RCV003370397] Chr8:144412827 [GRCh38]
Chr8:145638211 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1160T>C (p.Leu387Pro) single nucleotide variant Inborn genetic diseases [RCV003352329]|SLC39A4-related disorder [RCV003420678] Chr8:144414085 [GRCh38]
Chr8:145639469 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.489C>G (p.Ile163Met) single nucleotide variant Inborn genetic diseases [RCV003366292] Chr8:144415405 [GRCh38]
Chr8:145640789 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1709_1710delinsAA (p.Phe570Ter) indel not provided [RCV003569495] Chr8:144412864..144412865 [GRCh38]
Chr8:145638248..145638249 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.474+19A>C single nucleotide variant not provided [RCV003873292] Chr8:144415791 [GRCh38]
Chr8:145641175 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-14G>C single nucleotide variant not provided [RCV003569818] Chr8:144416105 [GRCh38]
Chr8:145641489 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-15T>C single nucleotide variant not provided [RCV003873940] Chr8:144412961 [GRCh38]
Chr8:145638345 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-12C>T single nucleotide variant not provided [RCV003874201] Chr8:144416103 [GRCh38]
Chr8:145641487 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1560G>C (p.Ala520=) single nucleotide variant not provided [RCV003571641] Chr8:144413304 [GRCh38]
Chr8:145638688 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1651_1652insTG (p.Ala551fs) insertion not provided [RCV003569197] Chr8:144412922..144412923 [GRCh38]
Chr8:145638306..145638307 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1449C>T (p.Asn483=) single nucleotide variant not provided [RCV003686272] Chr8:144413538 [GRCh38]
Chr8:145638922 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1114delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC (p.Val372fs) duplication not provided [RCV003568948] Chr8:144414297 [GRCh38]
Chr8:145639660..145639661 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3 copy number gain not provided [RCV003484758] Chr8:145080420..146258478 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.878G>A (p.Trp293Ter) single nucleotide variant not provided [RCV003880127] Chr8:144414823 [GRCh38]
Chr8:145640207 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.976+18C>A single nucleotide variant not provided [RCV003825943] Chr8:144414707 [GRCh38]
Chr8:145640091 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.885A>G (p.Gln295=) single nucleotide variant not provided [RCV003826326] Chr8:144414816 [GRCh38]
Chr8:145640200 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.804+13C>T single nucleotide variant not provided [RCV003739991] Chr8:144414961 [GRCh38]
Chr8:145640345 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1419+19C>T single nucleotide variant not provided [RCV003881195] Chr8:144413731 [GRCh38]
Chr8:145639115 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.951C>T (p.Val317=) single nucleotide variant not provided [RCV003695516] Chr8:144414750 [GRCh38]
Chr8:145640134 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.888G>A (p.Leu296=) single nucleotide variant not provided [RCV003693358] Chr8:144414813 [GRCh38]
Chr8:145640197 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.668-20C>A single nucleotide variant not provided [RCV003573970] Chr8:144415130 [GRCh38]
Chr8:145640514 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1474+14dup duplication not provided [RCV003739193] Chr8:144413498..144413499 [GRCh38]
Chr8:145638882..145638883 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1419+20C>T single nucleotide variant not provided [RCV003825787] Chr8:144413730 [GRCh38]
Chr8:145639114 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.99C>T (p.Thr33=) single nucleotide variant not provided [RCV003716049] Chr8:144416691 [GRCh38]
Chr8:145642075 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1653G>A (p.Ala551=) single nucleotide variant not provided [RCV003829785] Chr8:144412921 [GRCh38]
Chr8:145638305 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1475-15C>T single nucleotide variant not provided [RCV003663137] Chr8:144413404 [GRCh38]
Chr8:145638788 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.379C>T (p.Leu127=) single nucleotide variant not provided [RCV003849242] Chr8:144415905 [GRCh38]
Chr8:145641289 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1420-14A>G single nucleotide variant not provided [RCV003715303] Chr8:144413581 [GRCh38]
Chr8:145638965 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.804+20A>T single nucleotide variant not provided [RCV003740052] Chr8:144414954 [GRCh38]
Chr8:145640338 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-19C>T single nucleotide variant not provided [RCV003740176] Chr8:144416110 [GRCh38]
Chr8:145641494 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-12C>T single nucleotide variant not provided [RCV003577990] Chr8:144415431 [GRCh38]
Chr8:145640815 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1475-12C>G single nucleotide variant not provided [RCV003547646] Chr8:144413401 [GRCh38]
Chr8:145638785 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1465C>T (p.Leu489=) single nucleotide variant not provided [RCV003713891] Chr8:144413522 [GRCh38]
Chr8:145638906 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.747C>T (p.Ser249=) single nucleotide variant not provided [RCV003660745] Chr8:144415031 [GRCh38]
Chr8:145640415 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.192+20G>A single nucleotide variant not provided [RCV003714669] Chr8:144416578 [GRCh38]
Chr8:145641962 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.804+18del deletion not provided [RCV003827091] Chr8:144414956 [GRCh38]
Chr8:145640340 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.475-9C>A single nucleotide variant not provided [RCV003882297] Chr8:144415428 [GRCh38]
Chr8:145640812 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-13C>T single nucleotide variant not provided [RCV003829089] Chr8:144415432 [GRCh38]
Chr8:145640816 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1149+20C>T single nucleotide variant not provided [RCV003830422] Chr8:144414242 [GRCh38]
Chr8:145639626 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1350G>A (p.Val450=) single nucleotide variant not provided [RCV003691615] Chr8:144413819 [GRCh38]
Chr8:145639203 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.192+5C>T single nucleotide variant not specified [RCV003490812] Chr8:144416593 [GRCh38]
Chr8:145641977 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.192+15C>T single nucleotide variant not provided [RCV003738794] Chr8:144416583 [GRCh38]
Chr8:145641967 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.192+16G>A single nucleotide variant not provided [RCV003878697] Chr8:144416582 [GRCh38]
Chr8:145641966 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1287+13G>A single nucleotide variant not provided [RCV003573264] Chr8:144413945 [GRCh38]
Chr8:145639329 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.976+18C>T single nucleotide variant not provided [RCV003830923] Chr8:144414707 [GRCh38]
Chr8:145640091 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1906C>T (p.Leu636=) single nucleotide variant not provided [RCV003689472] Chr8:144412576 [GRCh38]
Chr8:145637960 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.976+16G>A single nucleotide variant not provided [RCV003577981] Chr8:144414709 [GRCh38]
Chr8:145640093 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1150-4C>G single nucleotide variant not provided [RCV003826100] Chr8:144414099 [GRCh38]
Chr8:145639483 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1288-11T>C single nucleotide variant not provided [RCV003713176] Chr8:144413892 [GRCh38]
Chr8:145639276 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1599G>T (p.Val533=) single nucleotide variant not provided [RCV003578745] Chr8:144413265 [GRCh38]
Chr8:145638649 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1816-8C>T single nucleotide variant not provided [RCV003578936] Chr8:144412674 [GRCh38]
Chr8:145638058 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1419+9G>T single nucleotide variant not provided [RCV003693095] Chr8:144413741 [GRCh38]
Chr8:145639125 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.977-11C>A single nucleotide variant not provided [RCV003659714] Chr8:144414445 [GRCh38]
Chr8:145639829 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.192+15C>A single nucleotide variant not provided [RCV003661361] Chr8:144416583 [GRCh38]
Chr8:145641967 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-8G>A single nucleotide variant not provided [RCV003547415] Chr8:144416099 [GRCh38]
Chr8:145641483 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.430C>T (p.Leu144=) single nucleotide variant not provided [RCV003715874] Chr8:144415854 [GRCh38]
Chr8:145641238 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1419+18G>A single nucleotide variant not provided [RCV003714881] Chr8:144413732 [GRCh38]
Chr8:145639116 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-20G>A single nucleotide variant not provided [RCV003575915] Chr8:144415439 [GRCh38]
Chr8:145640823 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.218del (p.Gly73fs) deletion not provided [RCV003573769] Chr8:144416066 [GRCh38]
Chr8:145641450 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.977-3dup duplication not provided [RCV003545022] Chr8:144414436..144414437 [GRCh38]
Chr8:145639820..145639821 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1491C>G (p.Pro497=) single nucleotide variant not provided [RCV003715371] Chr8:144413373 [GRCh38]
Chr8:145638757 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.171_172delinsAA (p.Cys57_Ala58delinsTer) indel not provided [RCV003713874] Chr8:144416618..144416619 [GRCh38]
Chr8:145642002..145642003 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1239C>T (p.Phe413=) single nucleotide variant not provided [RCV003576290] Chr8:144414006 [GRCh38]
Chr8:145639390 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1334del (p.Gly445fs) deletion not provided [RCV003547903] Chr8:144413835 [GRCh38]
Chr8:145639219 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1665G>A (p.Val555=) single nucleotide variant not provided [RCV003662374] Chr8:144412909 [GRCh38]
Chr8:145638293 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.976+12C>T single nucleotide variant not provided [RCV003573428] Chr8:144414713 [GRCh38]
Chr8:145640097 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1815+9G>T single nucleotide variant not provided [RCV003716310] Chr8:144412750 [GRCh38]
Chr8:145638134 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-15C>A single nucleotide variant not provided [RCV003663483] Chr8:144415434 [GRCh38]
Chr8:145640818 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.113dup (p.Leu39fs) duplication not provided [RCV003545424] Chr8:144416676..144416677 [GRCh38]
Chr8:145642060..145642061 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1935C>T (p.Ile645=) single nucleotide variant not provided [RCV003811651] Chr8:144412547 [GRCh38]
Chr8:145637931 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1627+18C>G single nucleotide variant not provided [RCV003700068] Chr8:144413219 [GRCh38]
Chr8:145638603 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.93G>C (p.Leu31=) single nucleotide variant not provided [RCV003548181] Chr8:144416697 [GRCh38]
Chr8:145642081 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1638C>A (p.Ala546=) single nucleotide variant not provided [RCV003548249] Chr8:144412936 [GRCh38]
Chr8:145638320 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-4C>A single nucleotide variant not provided [RCV003579831] Chr8:144414900 [GRCh38]
Chr8:145640284 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.667+13C>T single nucleotide variant not provided [RCV003663970] Chr8:144415214 [GRCh38]
Chr8:145640598 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1110T>C (p.Gly370=) single nucleotide variant not provided [RCV003699352] Chr8:144414301 [GRCh38]
Chr8:145639685 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.400_401insG (p.Lys134fs) insertion not provided [RCV003580254] Chr8:144415883..144415884 [GRCh38]
Chr8:145641267..145641268 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.193-14G>A single nucleotide variant not provided [RCV003580057] Chr8:144416105 [GRCh38]
Chr8:145641489 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1089C>T (p.Thr363=) single nucleotide variant not provided [RCV003725733] Chr8:144414322 [GRCh38]
Chr8:145639706 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1150-15G>T single nucleotide variant not provided [RCV003725800] Chr8:144414110 [GRCh38]
Chr8:145639494 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.378C>T (p.Leu126=) single nucleotide variant not provided [RCV003698317] Chr8:144415906 [GRCh38]
Chr8:145641290 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1475-12C>T single nucleotide variant not provided [RCV003726018] Chr8:144413401 [GRCh38]
Chr8:145638785 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.237G>A (p.Gly79=) single nucleotide variant not provided [RCV003674251] Chr8:144416047 [GRCh38]
Chr8:145641431 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-16T>A single nucleotide variant not provided [RCV003840479] Chr8:144414912 [GRCh38]
Chr8:145640296 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.667+12G>A single nucleotide variant not provided [RCV003849511] Chr8:144415215 [GRCh38]
Chr8:145640599 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1149+19G>A single nucleotide variant not provided [RCV003579837] Chr8:144414243 [GRCh38]
Chr8:145639627 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1668C>T (p.Arg556=) single nucleotide variant not provided [RCV003665142] Chr8:144412906 [GRCh38]
Chr8:145638290 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1475-9C>T single nucleotide variant not provided [RCV003726243] Chr8:144413398 [GRCh38]
Chr8:145638782 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.804+11C>T single nucleotide variant not provided [RCV003856753] Chr8:144414963 [GRCh38]
Chr8:145640347 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1563C>T (p.Ser521=) single nucleotide variant not provided [RCV003839359] Chr8:144413301 [GRCh38]
Chr8:145638685 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1419+11G>A single nucleotide variant not provided [RCV003840411] Chr8:144413739 [GRCh38]
Chr8:145639123 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.33G>C (p.Leu11=) single nucleotide variant not provided [RCV003702173] Chr8:144416757 [GRCh38]
Chr8:145642141 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.66G>T (p.Ala22=) single nucleotide variant not provided [RCV003549703] Chr8:144416724 [GRCh38]
Chr8:145642108 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1475-14C>T single nucleotide variant not provided [RCV003562173] Chr8:144413403 [GRCh38]
Chr8:145638787 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1815+14G>A single nucleotide variant not provided [RCV003561635] Chr8:144412745 [GRCh38]
Chr8:145638129 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.816T>C (p.Ser272=) single nucleotide variant not provided [RCV003850792] Chr8:144414885 [GRCh38]
Chr8:145640269 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1474+19C>T single nucleotide variant not provided [RCV003562051] Chr8:144413494 [GRCh38]
Chr8:145638878 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.976+17A>G single nucleotide variant not provided [RCV003699657] Chr8:144414708 [GRCh38]
Chr8:145640092 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1149+18C>T single nucleotide variant not provided [RCV003837587] Chr8:144414244 [GRCh38]
Chr8:145639628 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.867C>A (p.Thr289=) single nucleotide variant not provided [RCV003666616] Chr8:144414834 [GRCh38]
Chr8:145640218 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.546C>T (p.Val182=) single nucleotide variant not provided [RCV003840162] Chr8:144415348 [GRCh38]
Chr8:145640732 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1164T>C (p.His388=) single nucleotide variant not provided [RCV003549407] Chr8:144414081 [GRCh38]
Chr8:145639465 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-14C>T single nucleotide variant not provided [RCV003659334] Chr8:144415433 [GRCh38]
Chr8:145640817 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.192+18C>A single nucleotide variant not provided [RCV003559555] Chr8:144416580 [GRCh38]
Chr8:145641964 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.96C>A (p.Leu32=) single nucleotide variant not provided [RCV003839483] Chr8:144416694 [GRCh38]
Chr8:145642078 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1627+19T>G single nucleotide variant not provided [RCV003855779] Chr8:144413218 [GRCh38]
Chr8:145638602 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1815+17G>A single nucleotide variant not provided [RCV003560279] Chr8:144412742 [GRCh38]
Chr8:145638126 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.192+18C>T single nucleotide variant not provided [RCV003726056] Chr8:144416580 [GRCh38]
Chr8:145641964 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-19A>G single nucleotide variant not provided [RCV003812031] Chr8:144412965 [GRCh38]
Chr8:145638349 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.813G>A (p.Leu271=) single nucleotide variant not provided [RCV003672067] Chr8:144414888 [GRCh38]
Chr8:145640272 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1474+2_1474+11del microsatellite not provided [RCV003856063] Chr8:144413502..144413511 [GRCh38]
Chr8:145638886..145638895 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1419+9G>A single nucleotide variant not provided [RCV003561829] Chr8:144413741 [GRCh38]
Chr8:145639125 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-17T>G single nucleotide variant not provided [RCV003558019] Chr8:144412963 [GRCh38]
Chr8:145638347 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1149+10dup duplication not provided [RCV003815008] Chr8:144414251..144414252 [GRCh38]
Chr8:145639635..145639636 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.193-15T>G single nucleotide variant not provided [RCV003724130] Chr8:144416106 [GRCh38]
Chr8:145641490 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1149+17C>T single nucleotide variant not provided [RCV003815004] Chr8:144414245 [GRCh38]
Chr8:145639629 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1627+16G>T single nucleotide variant not provided [RCV003724088] Chr8:144413221 [GRCh38]
Chr8:145638605 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1392C>T (p.Pro464=) single nucleotide variant not provided [RCV003672779] Chr8:144413777 [GRCh38]
Chr8:145639161 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1071C>A (p.Thr357=) single nucleotide variant not provided [RCV003723319] Chr8:144414340 [GRCh38]
Chr8:145639724 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.976+13G>A single nucleotide variant not provided [RCV003580037] Chr8:144414712 [GRCh38]
Chr8:145640096 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.348T>G (p.Ala116=) single nucleotide variant not provided [RCV003740428] Chr8:144415936 [GRCh38]
Chr8:145641320 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1288-13C>G single nucleotide variant not provided [RCV003700416] Chr8:144413894 [GRCh38]
Chr8:145639278 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.977-17G>A single nucleotide variant not provided [RCV003579800] Chr8:144414451 [GRCh38]
Chr8:145639835 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-17T>C single nucleotide variant not provided [RCV003700835] Chr8:144412963 [GRCh38]
Chr8:145638347 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.360C>T (p.Ala120=) single nucleotide variant not provided [RCV003559948] Chr8:144415924 [GRCh38]
Chr8:145641308 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-11C>A single nucleotide variant not provided [RCV003671822] Chr8:144412957 [GRCh38]
Chr8:145638341 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1816-15C>A single nucleotide variant not provided [RCV003701940] Chr8:144412681 [GRCh38]
Chr8:145638065 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1438dup (p.Glu480fs) duplication not provided [RCV003723671] Chr8:144413548..144413549 [GRCh38]
Chr8:145638932..145638933 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1875C>T (p.Asn625=) single nucleotide variant not provided [RCV003672712] Chr8:144412607 [GRCh38]
Chr8:145637991 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1662C>G (p.Ser554=) single nucleotide variant not provided [RCV003668479] Chr8:144412912 [GRCh38]
Chr8:145638296 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.201T>C (p.Ser67=) single nucleotide variant not provided [RCV003560752] Chr8:144416083 [GRCh38]
Chr8:145641467 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.18G>C (p.Ser6=) single nucleotide variant not provided [RCV003863843] Chr8:144416772 [GRCh38]
Chr8:145642156 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-12A>T single nucleotide variant not provided [RCV003708006] Chr8:144412958 [GRCh38]
Chr8:145638342 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1440G>A (p.Glu480=) single nucleotide variant not provided [RCV003562712] Chr8:144413547 [GRCh38]
Chr8:145638931 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.552T>C (p.Ala184=) single nucleotide variant not provided [RCV003676765] Chr8:144415342 [GRCh38]
Chr8:145640726 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1474+10G>A single nucleotide variant not provided [RCV003554283] Chr8:144413503 [GRCh38]
Chr8:145638887 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1475-2A>G single nucleotide variant not provided [RCV003567338] Chr8:144413391 [GRCh38]
Chr8:145638775 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1596C>G (p.Ala532=) single nucleotide variant not provided [RCV003552801] Chr8:144413268 [GRCh38]
Chr8:145638652 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.474+18C>A single nucleotide variant not provided [RCV003678823] Chr8:144415792 [GRCh38]
Chr8:145641176 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.192+11C>T single nucleotide variant not provided [RCV003555382] Chr8:144416587 [GRCh38]
Chr8:145641971 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-17G>C single nucleotide variant not provided [RCV003845650] Chr8:144414913 [GRCh38]
Chr8:145640297 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-5C>T single nucleotide variant not provided [RCV003677831] Chr8:144415424 [GRCh38]
Chr8:145640808 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.411C>A (p.Thr137=) single nucleotide variant not provided [RCV003567319] Chr8:144415873 [GRCh38]
Chr8:145641257 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.939C>A (p.Ser313=) single nucleotide variant not provided [RCV003729222] Chr8:144414762 [GRCh38]
Chr8:145640146 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.474+14C>T single nucleotide variant not provided [RCV003857233] Chr8:144415796 [GRCh38]
Chr8:145641180 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.123A>G (p.Gln41=) single nucleotide variant not provided [RCV003563551] Chr8:144416667 [GRCh38]
Chr8:145642051 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-4G>T single nucleotide variant not provided [RCV003682274] Chr8:144412950 [GRCh38]
Chr8:145638334 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-15C>T single nucleotide variant not provided [RCV003727564] Chr8:144415434 [GRCh38]
Chr8:145640818 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1062G>A (p.Arg354=) single nucleotide variant not provided [RCV003564051] Chr8:144414349 [GRCh38]
Chr8:145639733 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1882C>T (p.Leu628=) single nucleotide variant not provided [RCV003705971] Chr8:144412600 [GRCh38]
Chr8:145637984 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1288-7C>T single nucleotide variant not provided [RCV003706670] Chr8:144413888 [GRCh38]
Chr8:145639272 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.939C>T (p.Ser313=) single nucleotide variant not provided [RCV003553748] Chr8:144414762 [GRCh38]
Chr8:145640146 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1816-14C>A single nucleotide variant not provided [RCV003552294] Chr8:144412680 [GRCh38]
Chr8:145638064 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.668-19C>T single nucleotide variant not provided [RCV003726938] Chr8:144415129 [GRCh38]
Chr8:145640513 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.442C>T (p.Gln148Ter) single nucleotide variant not provided [RCV003843792] Chr8:144415842 [GRCh38]
Chr8:145641226 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.976+20T>C single nucleotide variant not provided [RCV003562775] Chr8:144414705 [GRCh38]
Chr8:145640089 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1368C>T (p.Pro456=) single nucleotide variant not provided [RCV003565365] Chr8:144413801 [GRCh38]
Chr8:145639185 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.220C>T (p.Leu74=) single nucleotide variant not provided [RCV003705108] Chr8:144416064 [GRCh38]
Chr8:145641448 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1149+1G>T single nucleotide variant not provided [RCV003564695] Chr8:144414261 [GRCh38]
Chr8:145639645 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1719C>G (p.Leu573=) single nucleotide variant not provided [RCV003707712] Chr8:144412855 [GRCh38]
Chr8:145638239 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-20C>T single nucleotide variant not provided [RCV003722085] Chr8:144414916 [GRCh38]
Chr8:145640300 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1275C>T (p.Pro425=) single nucleotide variant not provided [RCV003706208] Chr8:144413970 [GRCh38]
Chr8:145639354 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.977-3del deletion not provided [RCV003557514] Chr8:144414437 [GRCh38]
Chr8:145639821 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.805-14C>T single nucleotide variant not provided [RCV003720479] Chr8:144414910 [GRCh38]
Chr8:145640294 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.976+10C>T single nucleotide variant not provided [RCV003731265] Chr8:144414715 [GRCh38]
Chr8:145640099 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1116C>G (p.Val372=) single nucleotide variant not provided [RCV003542743] Chr8:144414295 [GRCh38]
Chr8:145639679 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1605C>T (p.Cys535=) single nucleotide variant not provided [RCV003866908] Chr8:144413259 [GRCh38]
Chr8:145638643 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.653dup (p.Met219fs) duplication not provided [RCV003704063] Chr8:144415240..144415241 [GRCh38]
Chr8:145640624..145640625 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.30G>A (p.Gly10=) single nucleotide variant not provided [RCV003721122] Chr8:144416760 [GRCh38]
Chr8:145642144 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.804+11C>A single nucleotide variant not provided [RCV003857267] Chr8:144414963 [GRCh38]
Chr8:145640347 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.668-14C>G single nucleotide variant not provided [RCV003818632] Chr8:144415124 [GRCh38]
Chr8:145640508 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1257C>T (p.Leu419=) single nucleotide variant not provided [RCV003733984] Chr8:144413988 [GRCh38]
Chr8:145639372 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1475-18G>T single nucleotide variant not provided [RCV003712465] Chr8:144413407 [GRCh38]
Chr8:145638791 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.667+19T>C single nucleotide variant not provided [RCV003723009] Chr8:144415208 [GRCh38]
Chr8:145640592 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1474+15C>G single nucleotide variant not provided [RCV003736003] Chr8:144413498 [GRCh38]
Chr8:145638882 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1628-17T>A single nucleotide variant not provided [RCV003719498] Chr8:144412963 [GRCh38]
Chr8:145638347 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1386C>G (p.Pro462=) single nucleotide variant not provided [RCV003685185] Chr8:144413783 [GRCh38]
Chr8:145639167 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1578G>A (p.Gly526=) single nucleotide variant not provided [RCV003721498] Chr8:144413286 [GRCh38]
Chr8:145638670 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.214C>T (p.Leu72=) single nucleotide variant not provided [RCV003870319] Chr8:144416070 [GRCh38]
Chr8:145641454 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.768C>T (p.Leu256=) single nucleotide variant not provided [RCV003872118] Chr8:144415010 [GRCh38]
Chr8:145640394 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1627+17C>T single nucleotide variant not provided [RCV003872262] Chr8:144413220 [GRCh38]
Chr8:145638604 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1335C>G (p.Gly445=) single nucleotide variant not provided [RCV003711296] Chr8:144413834 [GRCh38]
Chr8:145639218 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1627+13G>A single nucleotide variant not provided [RCV003819116] Chr8:144413224 [GRCh38]
Chr8:145638608 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.459C>T (p.Gly153=) single nucleotide variant not provided [RCV003865230] Chr8:144415825 [GRCh38]
Chr8:145641209 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1643T>A (p.Leu548Ter) single nucleotide variant not provided [RCV003719253] Chr8:144412931 [GRCh38]
Chr8:145638315 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1420-10C>T single nucleotide variant not provided [RCV003720097] Chr8:144413577 [GRCh38]
Chr8:145638961 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1816-13A>C single nucleotide variant not provided [RCV003737388] Chr8:144412679 [GRCh38]
Chr8:145638063 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.668-16C>T single nucleotide variant not provided [RCV003565076] Chr8:144415126 [GRCh38]
Chr8:145640510 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.977-11C>T single nucleotide variant not provided [RCV003737517] Chr8:144414445 [GRCh38]
Chr8:145639829 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1420-15C>T single nucleotide variant not provided [RCV003738563] Chr8:144413582 [GRCh38]
Chr8:145638966 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1398C>T (p.His466=) single nucleotide variant not provided [RCV003870073] Chr8:144413771 [GRCh38]
Chr8:145639155 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1419+15G>A single nucleotide variant not provided [RCV003721848] Chr8:144413735 [GRCh38]
Chr8:145639119 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1419+12C>T single nucleotide variant not provided [RCV003735633] Chr8:144413738 [GRCh38]
Chr8:145639122 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1647G>C (p.Leu549=) single nucleotide variant not provided [RCV003868732] Chr8:144412927 [GRCh38]
Chr8:145638311 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.813G>C (p.Leu271=) single nucleotide variant not provided [RCV003869912] Chr8:144414888 [GRCh38]
Chr8:145640272 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1809C>T (p.Cys603=) single nucleotide variant not provided [RCV003818607] Chr8:144412765 [GRCh38]
Chr8:145638149 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1245G>A (p.Leu415=) single nucleotide variant not provided [RCV003864222] Chr8:144414000 [GRCh38]
Chr8:145639384 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.977-18C>T single nucleotide variant not provided [RCV003562705] Chr8:144414452 [GRCh38]
Chr8:145639836 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.474+20G>A single nucleotide variant not provided [RCV003562725] Chr8:144415790 [GRCh38]
Chr8:145641174 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.477C>T (p.Ala159=) single nucleotide variant not provided [RCV003541920] Chr8:144415417 [GRCh38]
Chr8:145640801 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1785C>A (p.Gly595=) single nucleotide variant not provided [RCV003842803] Chr8:144412789 [GRCh38]
Chr8:145638173 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-10T>A single nucleotide variant not provided [RCV003567511] Chr8:144415429 [GRCh38]
Chr8:145640813 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.15C>T (p.Val5=) single nucleotide variant not provided [RCV003675306] Chr8:144416775 [GRCh38]
Chr8:145642159 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.318C>T (p.Asn106=) single nucleotide variant not provided [RCV003552173] Chr8:144415966 [GRCh38]
Chr8:145641350 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1150-19C>T single nucleotide variant not provided [RCV003567025] Chr8:144414114 [GRCh38]
Chr8:145639498 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-11C>G single nucleotide variant not provided [RCV003863896] Chr8:144415430 [GRCh38]
Chr8:145640814 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.579G>T (p.Gly193=) single nucleotide variant not provided [RCV003682454] Chr8:144415315 [GRCh38]
Chr8:145640699 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.192+9C>T single nucleotide variant not provided [RCV003682455] Chr8:144416589 [GRCh38]
Chr8:145641973 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1656G>T (p.Gly552=) single nucleotide variant not provided [RCV003733810] Chr8:144412918 [GRCh38]
Chr8:145638302 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.264G>C (p.Leu88=) single nucleotide variant not provided [RCV003682501] Chr8:144416020 [GRCh38]
Chr8:145641404 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1326C>T (p.Ser442=) single nucleotide variant not provided [RCV003681209] Chr8:144413843 [GRCh38]
Chr8:145639227 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1587C>T (p.Thr529=) single nucleotide variant not provided [RCV003864119] Chr8:144413277 [GRCh38]
Chr8:145638661 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1014C>T (p.Cys338=) single nucleotide variant not provided [RCV003707732] Chr8:144414397 [GRCh38]
Chr8:145639781 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1283del (p.Pro428fs) deletion not provided [RCV003681227] Chr8:144413962 [GRCh38]
Chr8:145639346 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1420-8C>T single nucleotide variant not provided [RCV003564676] Chr8:144413575 [GRCh38]
Chr8:145638959 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1467G>C (p.Leu489=) single nucleotide variant not provided [RCV003729535] Chr8:144413520 [GRCh38]
Chr8:145638904 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1486C>T (p.Leu496=) single nucleotide variant not provided [RCV003858335] Chr8:144413378 [GRCh38]
Chr8:145638762 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.849G>C (p.Ser283=) single nucleotide variant not provided [RCV003674784] Chr8:144414852 [GRCh38]
Chr8:145640236 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1035C>G (p.Leu345=) single nucleotide variant not provided [RCV003704068] Chr8:144414376 [GRCh38]
Chr8:145639760 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1287+11T>C single nucleotide variant not provided [RCV003677042] Chr8:144413947 [GRCh38]
Chr8:145639331 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.475-16G>A single nucleotide variant not provided [RCV003842136] Chr8:144415435 [GRCh38]
Chr8:145640819 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.805-3del deletion not provided [RCV003563812] Chr8:144414899 [GRCh38]
Chr8:145640283 [GRCh37]
Chr8:8q24.3		 benign
NM_130849.4(SLC39A4):c.1661_1662dup (p.Val555fs) duplication not provided [RCV003680228] Chr8:144412911..144412912 [GRCh38]
Chr8:145638295..145638296 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.192+20G>T single nucleotide variant not provided [RCV003735795] Chr8:144416578 [GRCh38]
Chr8:145641962 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1758G>A (p.Glu586=) single nucleotide variant not provided [RCV003861626] Chr8:144412816 [GRCh38]
Chr8:145638200 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1542C>A (p.Ala514=) single nucleotide variant not provided [RCV003861097] Chr8:144413322 [GRCh38]
Chr8:145638706 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1287+37_1359del deletion not provided [RCV003566316] Chr8:144413810..144413921 [GRCh38]
Chr8:145639194..145639305 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.251del (p.Pro84fs) deletion not provided [RCV003704205] Chr8:144416033 [GRCh38]
Chr8:145641417 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1224C>G (p.Ala408=) single nucleotide variant not provided [RCV003564399] Chr8:144414021 [GRCh38]
Chr8:145639405 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1476G>A (p.Glu492=) single nucleotide variant not provided [RCV003858837] Chr8:144413388 [GRCh38]
Chr8:145638772 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1149+1G>A single nucleotide variant not provided [RCV003706971] Chr8:144414261 [GRCh38]
Chr8:145639645 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1374G>A (p.Glu458=) single nucleotide variant not provided [RCV003551042] Chr8:144413795 [GRCh38]
Chr8:145639179 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1816-13A>T single nucleotide variant not provided [RCV003734496] Chr8:144412679 [GRCh38]
Chr8:145638063 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1420-12G>A single nucleotide variant not provided [RCV003734539] Chr8:144413579 [GRCh38]
Chr8:145638963 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.193-29C>T single nucleotide variant SLC39A4-related disorder [RCV003976805] Chr8:144416120 [GRCh38]
Chr8:145641504 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1868T>C (p.Leu623Pro) single nucleotide variant Hereditary acrodermatitis enteropathica [RCV003990176] Chr8:144412614 [GRCh38]
Chr8:145637998 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_130849.4(SLC39A4):c.1240T>C (p.Phe414Leu) single nucleotide variant Inborn genetic diseases [RCV004461555] Chr8:144414005 [GRCh38]
Chr8:145639389 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1277G>A (p.Arg426Lys) single nucleotide variant Inborn genetic diseases [RCV004461556] Chr8:144413968 [GRCh38]
Chr8:145639352 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1396C>A (p.His466Asn) single nucleotide variant Inborn genetic diseases [RCV004461558] Chr8:144413773 [GRCh38]
Chr8:145639157 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.56C>T (p.Thr19Met) single nucleotide variant Inborn genetic diseases [RCV004461561] Chr8:144416734 [GRCh38]
Chr8:145642118 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.752G>A (p.Arg251Gln) single nucleotide variant Inborn genetic diseases [RCV004461562] Chr8:144415026 [GRCh38]
Chr8:145640410 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.539G>A (p.Gly180Asp) single nucleotide variant Inborn genetic diseases [RCV004461560] Chr8:144415355 [GRCh38]
Chr8:145640739 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.605del (p.Pro202fs) deletion Hereditary acrodermatitis enteropathica [RCV003990494] Chr8:144415289 [GRCh38]
Chr8:145640673 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_130849.4(SLC39A4):c.1226G>A (p.Gly409Glu) single nucleotide variant Inborn genetic diseases [RCV004461554] Chr8:144414019 [GRCh38]
Chr8:145639403 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1400A>G (p.Glu467Gly) single nucleotide variant Inborn genetic diseases [RCV004461559] Chr8:144413769 [GRCh38]
Chr8:145639153 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.826G>A (p.Val276Met) single nucleotide variant Inborn genetic diseases [RCV004461563] Chr8:144414875 [GRCh38]
Chr8:145640259 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3 copy number gain not provided [RCV004577489] Chr8:145033578..146296885 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.14_17delinsCCCCA (p.Val5fs) indel Hereditary acrodermatitis enteropathica [RCV004594800] Chr8:144416773..144416776 [GRCh38]
Chr8:145642157..145642160 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1474+6C>T single nucleotide variant not specified [RCV004766700] Chr8:144413507 [GRCh38]
Chr8:145638891 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.193-82C>T single nucleotide variant SLC39A4-related disorder [RCV004750106] Chr8:144416173 [GRCh38]
Chr8:145641557 [GRCh37]
Chr8:8q24.3		 likely benign
NC_000008.10:g.(?_145637922)_(145642173_?)del deletion not provided [RCV004583370] Chr8:145637922..145642173 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1017C>T (p.Leu339=) single nucleotide variant not provided [RCV002162969] Chr8:144414394 [GRCh38]
Chr8:145639778 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1371C>A (p.Ser457Arg) single nucleotide variant Inborn genetic diseases [RCV003264927] Chr8:144413798 [GRCh38]
Chr8:145639182 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.986A>C (p.Tyr329Ser) single nucleotide variant Inborn genetic diseases [RCV003196273] Chr8:144414425 [GRCh38]
Chr8:145639809 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1118C>T (p.Thr373Ile) single nucleotide variant Inborn genetic diseases [RCV003357568] Chr8:144414293 [GRCh38]
Chr8:145639677 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1414G>A (p.Asp472Asn) single nucleotide variant Inborn genetic diseases [RCV003359280] Chr8:144413755 [GRCh38]
Chr8:145639139 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.221T>C (p.Leu74Pro) single nucleotide variant Inborn genetic diseases [RCV003365026] Chr8:144416063 [GRCh38]
Chr8:145641447 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1761C>G (p.Ala587=) single nucleotide variant not provided [RCV003713911] Chr8:144412813 [GRCh38]
Chr8:145638197 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1816-13A>G single nucleotide variant not provided [RCV003562085] Chr8:144412679 [GRCh38]
Chr8:145638063 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.1288-16G>C single nucleotide variant not provided [RCV003562045] Chr8:144413897 [GRCh38]
Chr8:145639281 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.106C>T (p.Gln36Ter) single nucleotide variant not provided [RCV003837737] Chr8:144416684 [GRCh38]
Chr8:145642068 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.1150-16C>T single nucleotide variant not provided [RCV003736139] Chr8:144414111 [GRCh38]
Chr8:145639495 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.668-17A>G single nucleotide variant not provided [RCV003735673] Chr8:144415127 [GRCh38]
Chr8:145640511 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.193-18A>T single nucleotide variant not provided [RCV003732537] Chr8:144416109 [GRCh38]
Chr8:145641493 [GRCh37]
Chr8:8q24.3		 likely benign
NM_130849.4(SLC39A4):c.179_183dup (p.Cys62fs) duplication not provided [RCV003844548] Chr8:144416606..144416607 [GRCh38]
Chr8:145641990..145641991 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_130849.4(SLC39A4):c.11T>C (p.Leu4Pro) single nucleotide variant Inborn genetic diseases [RCV004461550] Chr8:144416779 [GRCh38]
Chr8:145642163 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1222G>A (p.Ala408Thr) single nucleotide variant Inborn genetic diseases [RCV004461553] Chr8:144414023 [GRCh38]
Chr8:145639407 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_130849.4(SLC39A4):c.1322A>G (p.His441Arg) single nucleotide variant Inborn genetic diseases [RCV004461557] Chr8:144413847 [GRCh38]
Chr8:145639231 [GRCh37]
Chr8:8q24.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2835
Count of miRNA genes:806
Interacting mature miRNAs:943
Transcripts:ENST00000276833, ENST00000301305, ENST00000526658, ENST00000527148, ENST00000529462, ENST00000530807, ENST00000531013, ENST00000531789, ENST00000532718
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1203 2439 2787 2253 4973 1725 2350 6 623 1949 464 2269 7300 6467 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001280557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC233992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE798833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI765535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA837547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA915781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC361959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN341836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000276833   ⟹   ENSP00000276833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,412,414 - 144,416,512 (-)Ensembl
Ensembl Acc Id: ENST00000301305   ⟹   ENSP00000301305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,412,414 - 144,416,844 (-)Ensembl
Ensembl Acc Id: ENST00000526658   ⟹   ENSP00000434512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,414,866 - 144,416,819 (-)Ensembl
Ensembl Acc Id: ENST00000527148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,409,742 - 144,413,571 (-)Ensembl
Ensembl Acc Id: ENST00000529462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,410,395 - 144,413,585 (-)Ensembl
Ensembl Acc Id: ENST00000530807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,412,414 - 144,413,569 (-)Ensembl
Ensembl Acc Id: ENST00000531013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,412,415 - 144,413,591 (-)Ensembl
Ensembl Acc Id: ENST00000531789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,413,340 - 144,414,081 (-)Ensembl
Ensembl Acc Id: ENST00000532718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,412,414 - 144,413,586 (-)Ensembl
RefSeq Acc Id: NM_001280557   ⟹   NP_001267486
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,412,414 - 144,413,585 (-)NCBI
GRCh378145,637,798 - 145,642,279 (-)NCBI
HuRef8140,751,031 - 140,755,512 (-)NCBI
CHM1_18145,676,089 - 145,677,266 (-)NCBI
T2T-CHM13v2.08145,582,227 - 145,583,398 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374839   ⟹   NP_001361768
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,412,414 - 144,416,844 (-)NCBI
T2T-CHM13v2.08145,582,227 - 145,586,657 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017767   ⟹   NP_060237
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,412,414 - 144,416,449 (-)NCBI
GRCh378145,637,798 - 145,642,279 (-)NCBI
Build 368145,608,606 - 145,612,725 (-)NCBI Archive
HuRef8140,751,031 - 140,755,512 (-)NCBI
CHM1_18145,676,089 - 145,680,208 (-)NCBI
T2T-CHM13v2.08145,582,227 - 145,586,262 (-)NCBI
Sequence:
RefSeq Acc Id: NM_130849   ⟹   NP_570901
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,412,414 - 144,416,844 (-)NCBI
Build 368145,608,606 - 145,613,081 (-)NCBI Archive
HuRef8140,751,031 - 140,755,512 (-)NCBI
CHM1_18145,676,089 - 145,680,570 (-)NCBI
T2T-CHM13v2.08145,582,227 - 145,586,657 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447189   ⟹   XP_024302957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,412,414 - 144,416,844 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054360773   ⟹   XP_054216748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,582,227 - 145,586,657 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001267486 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361768 (Get FASTA)   NCBI Sequence Viewer  
  NP_060237 (Get FASTA)   NCBI Sequence Viewer  
  NP_570901 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302957 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188177 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216748 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01688 (Get FASTA)   NCBI Sequence Viewer  
  AAH62625 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34165 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34166 (Get FASTA)   NCBI Sequence Viewer  
  BAA91091 (Get FASTA)   NCBI Sequence Viewer  
  BAA91200 (Get FASTA)   NCBI Sequence Viewer  
  BAB15164 (Get FASTA)   NCBI Sequence Viewer  
  BAF83252 (Get FASTA)   NCBI Sequence Viewer  
  CAH05339 (Get FASTA)   NCBI Sequence Viewer  
  CAH05356 (Get FASTA)   NCBI Sequence Viewer  
  CAY39337 (Get FASTA)   NCBI Sequence Viewer  
  EAW82101 (Get FASTA)   NCBI Sequence Viewer  
  EAW82102 (Get FASTA)   NCBI Sequence Viewer  
  EAW82103 (Get FASTA)   NCBI Sequence Viewer  
  EAW82104 (Get FASTA)   NCBI Sequence Viewer  
  EAW82105 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000276833
  ENSP00000276833.5
  ENSP00000301305
  ENSP00000301305.4
  ENSP00000434512.1
  ENSP00000494227.1
  ENSP00000494311.1
  ENSP00000495648.1
GenBank Protein Q6P5W5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_570901   ⟸   NM_130849
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9H6T8 (UniProtKB/Swiss-Prot),   Q7L5S5 (UniProtKB/Swiss-Prot),   Q6P5W5 (UniProtKB/Swiss-Prot),   Q9NXC4 (UniProtKB/Swiss-Prot),   A0A0S2Z5G8 (UniProtKB/TrEMBL)
- Sequence: