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Acrodermatitis (D000169)
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Acrodermatitis enteropathica (C538178)

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..expandAcrodermatitis enteropathica (C538178)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:191
Name:Acrodermatitis enteropathica
Definition:
Alternative IDs:OMIM:201100
ParentIDs:MESH:D000169
TreeNumbers:C16.131.831.066/C538178 |C17.800.174.100/C538178 |C17.800.804.066/C538178
Synonyms:Acrodermatitis enteropathica zinc deficiency type |Acrodermatitis Enteropathica, Zinc-Deficiency Type |AEZ
Slim Mappings:Congenital abnormality|Skin disease
Reference: MedGen: C538178
MeSH: C538178
OMIM: 201100;
MSeqDR LSDB:  
Genes: SLC39A4;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0002293Alopecia of scalp
4 HP:0001251Ataxia
5 HP:0000224Decreased taste sensation
6 HP:0008734Decreased testicular size
7 HP:0008230Decreased testosterone in males
8 HP:0002014Diarrhea
9 HP:0000712Emotional lability
10 HP:0001508Failure to thrive
11 HP:0002240Hepatomegaly
12 HP:0000135Hypogonadism
NAMDC:  Hypoparathyroidism
13 HP:0005435Impaired T cell function
14 HP:0000737Irritability
15 HP:0001254Lethargy
16 HP:0003282Low alkaline phosphatase
17 HP:0001818Paronychia
18 HP:0004396Poor appetite
19 HP:0005401Recurrent candida infections
20 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
21 HP:0001744Splenomegaly
22 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_130849.4(SLC39A4):c.*61A>G55630SLC39A4Uncertain significancers934570845RCV001164640; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456378611456378618:g.145637861T>C-
NM_130849.4(SLC39A4):c.*28C>T55630SLC39A4Uncertain significancers200717604RCV001164641; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456378941456378948:g.145637894G>A-
NM_130849.4(SLC39A4):c.1937C>T (p.Thr646Ile)55630SLC39A4Uncertain significancers1038762995RCV001278655; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456379291456379298:g.145637929G>A-
NM_130849.4(SLC39A4):c.1924G>A (p.Glu642Lys)55630SLC39A4Uncertain significancers782620896RCV001164642; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456379421456379428:g.145637942C>T-
NM_130849.4(SLC39A4):c.1903C>T (p.Leu635=)55630SLC39A4Likely benignrs199706667RCV000943912|RCV001278656; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456379631456379638:g.145637963G>A-
NM_130849.4(SLC39A4):c.1851C>T (p.Pro617=)55630SLC39A4Benignrs61729885RCV000922922|RCV001836016; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456380151456380158:g.145638015G>A-
NM_130849.4(SLC39A4):c.1837C>T (p.Arg613Trp)55630SLC39A4Uncertain significancers781843190RCV001164643; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456380291456380298:g.145638029G>A-
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=)55630SLC39A4Conflicting interpretations of pathogenicityrs144252108RCV000905933|RCV001164644; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456382151456382158:g.145638215G>A-
NM_130849.4(SLC39A4):c.1735G>C (p.Val579Leu)55630SLC39A4Uncertain significancers782658832RCV001164645; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456382231456382238:g.145638223C>G-
NM_130849.4(SLC39A4):c.1704G>A (p.Thr568=)55630SLC39A4Benignrs115808560RCV000880869|RCV001275489; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456382541456382548:g.145638254C>T-
NM_130849.4(SLC39A4):c.1659G>C (p.Leu553=)55630SLC39A4Benignrs143778004RCV000880595|RCV001271165; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456382991456382998:g.145638299C>G-
NM_130849.4(SLC39A4):c.1628-10T>C55630SLC39A4Likely benignrs782727114RCV000982266|RCV001275490; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456383401456383408:g.145638340A>G-
NM_130849.4(SLC39A4):c.1576G>A (p.Gly526Arg)55630SLC39A4Pathogenicrs121434288RCV000003716; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456386721456386728:g.145638672C>TClinGen:CA116331,OMIM:607059.0005C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1557C>T (p.Phe519=)55630SLC39A4Conflicting interpretations of pathogenicityrs782606354RCV001159725|RCV001476550; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456386911456386918:g.145638691G>A-
NM_130849.4(SLC39A4):c.1536G>A (p.Gly512=)55630SLC39A4Conflicting interpretations of pathogenicityrs886062745RCV000290781|RCV000976332; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145638712145638712NC_000008.10:g.145638712C>TClinGen:CA10630513C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1529C>G (p.Ala510Gly)55630SLC39A4Uncertain significancers782365032RCV001159726; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456387191456387198:g.145638719G>C-
NM_130849.4(SLC39A4):c.1511A>G (p.Asp504Gly)55630SLC39A4Uncertain significancers886062746RCV000348067; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145638737145638737NC_000008.10:g.145638737T>CClinGen:CA10630451C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1495A>G (p.Met499Val)55630SLC39A4Benignrs145832695RCV000381628|RCV000882209; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145638753145638753NC_000008.10:g.145638753T>CClinGen:CA4941174C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1465_1474+4del55630SLC39A4Pathogenic/Likely pathogenicrs782563835RCV001266753|RCV001377474|RCV002499457; NMeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456388931456389068:g.145638893_145638906del-
NM_130849.4(SLC39A4):c.1461G>A (p.Arg487=)55630SLC39A4Likely benignrs376361002RCV001275491|RCV000921049; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456389101456389108:g.145638910C>T-
NM_130849.4(SLC39A4):c.1452T>A (p.Pro484=)55630SLC39A4Likely benignrs936284130RCV000932545|RCV001275492; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456389191456389198:g.145638919A>T-
NM_130849.4(SLC39A4):c.1429G>A (p.Glu477Lys)55630SLC39A4Uncertain significancers782756897RCV001159727; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456389421456389428:g.145638942C>T-
NM_130849.4(SLC39A4):c.1426G>C (p.Glu476Gln)55630SLC39A4Uncertain significancers201400971RCV000289476; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145638945145638945NC_000008.10:g.145638945C>GClinGen:CA10625004C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1426G>A (p.Glu476Lys)55630SLC39A4Uncertain significancers201400971RCV000351467; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145638945145638945NC_000008.10:g.145638945C>TClinGen:CA4941223C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1425G>C (p.Ala475=)55630SLC39A4Uncertain significancers574571465RCV001161124; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456389461456389468:g.145638946C>G-
NM_130849.4(SLC39A4):c.1409G>A (p.Arg470His)55630SLC39A4Uncertain significancers782551696RCV001161125; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456391441456391448:g.145639144C>T-
NM_130849.4(SLC39A4):c.1391C>A (p.Pro464His)55630SLC39A4Uncertain significancers1554872599RCV001278657; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456391621456391628:g.145639162G>T-
NM_130849.4(SLC39A4):c.1384C>T (p.Pro462Ser)55630SLC39A4Uncertain significancers782302424RCV001161126; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456391691456391698:g.145639169G>A-
NM_130849.4(SLC39A4):c.1371C>T (p.Ser457=)55630SLC39A4Uncertain significancers782042283RCV001161127; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456391821456391828:g.145639182G>A-
NM_130849.4(SLC39A4):c.1323T>C (p.His441=)55630SLC39A4Conflicting interpretations of pathogenicityrs143819461RCV000913725|RCV001162682; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456392301456392308:g.145639230A>G-
NM_130849.4(SLC39A4):c.1319G>C (p.Ser440Thr)55630SLC39A4Uncertain significancers1221755475RCV001162683; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456392341456392348:g.145639234C>G-
NM_130849.4(SLC39A4):c.1299C>T (p.Asp433=)55630SLC39A4Likely benignrs528212894RCV000928370|RCV002505376; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456392541456392548:g.145639254G>A-
NM_130849.4(SLC39A4):c.1287+22C>G55630SLC39A4Benign-1RCV001543909|RCV001673170; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145639320145639320145639320-
NM_130849.4(SLC39A4):c.1284G>A (p.Pro428=)55630SLC39A4Conflicting interpretations of pathogenicityrs141948792RCV001162684|RCV001407417; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456393451456393458:g.145639345C>T-
NM_130849.4(SLC39A4):c.1279G>C (p.Asp427His)55630SLC39A4Uncertain significancers145813344RCV001162685; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456393501456393508:g.145639350C>G-
NM_130849.4(SLC39A4):c.1261A>T (p.Asn421Tyr)55630SLC39A4Likely benignrs373681902RCV000941895|RCV001275493; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456393681456393688:g.145639368T>A-
NM_130849.4(SLC39A4):c.1257C>G (p.Leu419=)55630SLC39A4Likely benignrs782097184RCV000981981|RCV001275494; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456393721456393728:g.145639372G>C-
NM_130849.4(SLC39A4):c.1234G>A (p.Ala412Thr)55630SLC39A4Uncertain significancers781956407RCV000406648; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145639395145639395NC_000008.10:g.145639395C>TClinGen:CA4941321C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1224_1228del (p.Gly409fs)55630SLC39A4Pathogenic-1RCV000003712; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145639401145639405145639400OMIM:607059.0001
NM_130849.4(SLC39A4):c.1225G>C (p.Gly409Arg)55630SLC39A4Uncertain significancers1554872800RCV001162686; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456394041456394048:g.145639404C>G-
NM_130849.4(SLC39A4):c.1204C>T (p.Arg402Cys)55630SLC39A4Likely benignrs199542349RCV000941083|RCV001275495; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456394251456394258:g.145639425G>A-
NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter)55630SLC39A4Pathogenic-1RCV001381864|RCV001831381; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145639426145639426145639426-
NM_130849.4(SLC39A4):c.1174G>C (p.Glu392Gln)55630SLC39A4Uncertain significancers367660059RCV000312232; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145639455145639455NC_000008.10:g.145639455C>GClinGen:CA4941332C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1150G>A (p.Val384Met)55630SLC39A4Uncertain significancers886062747RCV000336853; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145639479145639479NC_000008.10:g.145639479C>TClinGen:CA10630457C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1150-15G>A55630SLC39A4Uncertain significancers200673705RCV000393260; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145639494145639494NC_000008.10:g.145639494C>TClinGen:CA4941341C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1149+10C>T55630SLC39A4Benign-1RCV001515036|RCV001826366; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145639636145639636145639636-
NM_130849.4(SLC39A4):c.1149+9C>T55630SLC39A4Conflicting interpretations of pathogenicityrs139192292RCV000939778|RCV001164740; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456396371456396378:g.145639637G>A-
NM_130849.4(SLC39A4):c.1149+8C>T55630SLC39A4Conflicting interpretations of pathogenicityrs376765006RCV000929684|RCV001164741; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456396381456396388:g.145639638G>A-
NM_130849.4(SLC39A4):c.1149+7C>T55630SLC39A4Likely benignrs782273130RCV000928847|RCV001275496; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456396391456396398:g.145639639G>A-
NM_130849.4(SLC39A4):c.1149+2T>C55630SLC39A4Likely pathogenicrs1255730342RCV001244526|RCV001836230; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456396441456396448:g.145639644A>G-
NM_130849.4(SLC39A4):c.1141A>G (p.Thr381Ala)55630SLC39A4Benign/Likely benignrs75920625RCV000296860|RCV001520475; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145639654145639654NC_000008.10:g.145639654T>CClinGen:CA4941389C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1126G>A (p.Ala376Thr)55630SLC39A4Likely benignrs200073988RCV000354115|RCV000914850; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145639669145639669NC_000008.10:g.145639669C>TClinGen:CA4941391C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1125C>T (p.Asp375=)55630SLC39A4Conflicting interpretations of pathogenicityrs556780206RCV000944299|RCV001164742; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456396701456396708:g.145639670G>A-
NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg)55630SLC39A4Likely pathogenicrs121434289RCV000003717|RCV001851627; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456396751456396758:g.145639675C>TClinGen:CA116333,OMIM:607059.0006C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1118C>G (p.Thr373Ser)55630SLC39A4Uncertain significancers368310239RCV001278658; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456396771456396778:g.145639677G>C-
NM_130849.4(SLC39A4):c.1114= (p.Val372=)55630SLC39A4Benignrs1871534RCV000393204|RCV001515871; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145639681145639681NC_000008.10:g.145639681G>CClinGen:CA4941399C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1018_1070dup (p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer)55630SLC39A4Pathogenic-1RCV000003721; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145639724145639725145639724OMIM:607059.0010
NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala)55630SLC39A4Benignrs2272662RCV000305246|RCV000454515|RCV001520476; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN169374|MedGen:CN5172028145639726145639726NC_000008.10:g.145639726T>CClinGen:CA4941409C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1068C>T (p.Val356=)55630SLC39A4Likely benign-1RCV001498568|RCV001826338; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145639727145639727145639727-
NM_130849.4(SLC39A4):c.1066G>T (p.Val356Phe)55630SLC39A4Uncertain significancers782320992RCV001278659; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456397291456397298:g.145639729C>A-
NM_130849.4(SLC39A4):c.1066del (p.Val356fs)55630SLC39A4Pathogenic-1RCV001389028|RCV001780371; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145639729145639729145639728-
NM_130849.4(SLC39A4):c.1059C>G (p.Cys353Trp)55630SLC39A4Uncertain significancers1822069877RCV001278660; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456397361456397368:g.145639736G>C-
NM_130849.4(SLC39A4):c.1035C>A (p.Leu345=)55630SLC39A4Conflicting interpretations of pathogenicityrs782166922RCV000357897|RCV001485761; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145639760145639760NC_000008.10:g.145639760G>TClinGen:CA4941418C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1022C>T (p.Ala341Val)55630SLC39A4Uncertain significancers200126079RCV001159826|RCV001528529; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456397731456397738:g.145639773G>A-
NM_130849.4(SLC39A4):c.1020C>T (p.Cys340=)55630SLC39A4Likely benignrs368844801RCV000915129|RCV001275995; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456397751456397758:g.145639775G>A-
NM_130849.4(SLC39A4):c.1002G>A (p.Thr334=)55630SLC39A4Likely benignrs149524471RCV000265537|RCV000909347; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145639793145639793NC_000008.10:g.145639793C>TClinGen:CA4941429C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)55630SLC39A4Pathogenicrs121434291RCV000003720; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456398061456398068:g.145639806C>TClinGen:CA116337,OMIM:607059.0009C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.977-1G>A55630SLC39A4Likely pathogenic-1RCV002005676|RCV002492239; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145639819145639819145639819-
NM_130849.4(SLC39A4):c.976+15C>T55630SLC39A4Likely benignrs183614749RCV001159827; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456400941456400948:g.145640094G>A-
NM_130849.4(SLC39A4):c.970_973del (p.Ser324fs)55630SLC39A4Pathogenic-1RCV000003713; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145640112145640115145640111OMIM:607059.0002
NM_130849.4(SLC39A4):c.948C>T (p.Pro316=)55630SLC39A4Benign/Likely benignrs60615103RCV000327542|RCV000953603; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145640137145640137NC_000008.10:g.145640137G>AClinGen:CA4941476C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.909G>C (p.Gln303His)55630SLC39A4Pathogenicrs121434293RCV000003723; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456401761456401768:g.145640176C>GClinGen:CA116341,OMIM:607059.0012C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.869C>T (p.Pro290Leu)55630SLC39A4Uncertain significancers142764754RCV000365889; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145640216145640216NC_000008.10:g.145640216G>AClinGen:CA4941492C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.862del (p.Gly287_Val288insTer)55630SLC39A4Pathogenic/Likely pathogenic-1RCV001951254|RCV002497883; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145640223145640223145640222-
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys)55630SLC39A4Benign/Likely benignrs7823979RCV000269123|RCV000430233; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145640235145640235NC_000008.10:g.145640235C>TClinGen:CA4941500C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.848C>T (p.Ser283Leu)55630SLC39A4Conflicting interpretations of pathogenicityrs150864996RCV001161231|RCV002070996; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456402371456402378:g.145640237G>A-
NM_130849.4(SLC39A4):c.805-12G>T55630SLC39A4Likely benignrs139609894RCV000326496; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145640292145640292NC_000008.10:g.145640292C>AClinGen:CA4941517C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.804+9C>T55630SLC39A4Conflicting interpretations of pathogenicityrs200693339RCV000388165|RCV000928572; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145640349145640349NC_000008.10:g.145640349G>AClinGen:CA4941535C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.804G>A (p.Thr268=)55630SLC39A4Uncertain significancers375732094RCV000296212; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145640358145640358NC_000008.10:g.145640358C>TClinGen:CA4941537C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.803C>T (p.Thr268Met)55630SLC39A4Uncertain significancers185494598RCV000330178; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145640359145640359NC_000008.10:g.145640359G>AClinGen:CA4941538C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.751= (p.Arg251=)55630SLC39A4Benignrs2977838RCV000455209|RCV001515872|RCV001543987; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456404111456404118:g.145640411A>GClinGen:CA4941552CN169374 not specified;
NM_130849.4(SLC39A4):c.744C>T (p.Ala248=)55630SLC39A4Likely benignrs201676788RCV000895735|RCV001271166; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456404181456404188:g.145640418G>A-
NM_130849.4(SLC39A4):c.723C>T (p.His241=)55630SLC39A4Likely benign-1RCV001452119|RCV001832585; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145640439145640439145640439-
NM_130849.4(SLC39A4):c.668-10T>C55630SLC39A4Conflicting interpretations of pathogenicityrs886062749RCV000387071|RCV001481995; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145640504145640504NC_000008.10:g.145640504A>GClinGen:CA10630518C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.666C>T (p.Ala222=)55630SLC39A4Uncertain significancers116345186RCV001162785; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456406121456406128:g.145640612G>A-
NM_130849.4(SLC39A4):c.659C>T (p.Thr220Met)55630SLC39A4Uncertain significance-1RCV001570335|RCV001827500; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145640619145640619145640619-
NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys)55630SLC39A4Conflicting interpretations of pathogenicityrs200524049RCV000976566|RCV001164852; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456406321456406328:g.145640632C>T-
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=)55630SLC39A4Conflicting interpretations of pathogenicityrs201681875RCV000279706|RCV000930686; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145640663145640663NC_000008.10:g.145640663G>AClinGen:CA4941630C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)55630SLC39A4Likely pathogenicrs121434287RCV000003715|RCV001042457; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456406791456406798:g.145640679G>AClinGen:CA116329,OMIM:607059.0004C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.595T>C (p.Leu199=)55630SLC39A4Likely benignrs141199511RCV000886073|RCV001830938; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456406831456406838:g.145640683A>G-
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=)55630SLC39A4Conflicting interpretations of pathogenicityrs782355343RCV000334708|RCV000931997; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145640684145640684NC_000008.10:g.145640684G>AClinGen:CA4941635C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.592G>A (p.Ala198Thr)55630SLC39A4Uncertain significancers781818806RCV000404935; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145640686145640686NC_000008.10:g.145640686C>TClinGen:CA4941636C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.591C>T (p.His197=)55630SLC39A4Likely benignrs200819089RCV000978177|RCV001827083; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456406871456406878:g.145640687G>A-
NM_130849.4(SLC39A4):c.558G>C (p.Leu186=)55630SLC39A4Likely benignrs199632014RCV000975531|RCV001275996; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456407201456407208:g.145640720C>G-
NM_130849.4(SLC39A4):c.543C>T (p.Gly181=)55630SLC39A4Likely benignrs565516931RCV000918506|RCV001275997; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456407351456407358:g.145640735G>A-
NM_130849.4(SLC39A4):c.540C>T (p.Gly180=)55630SLC39A4Likely benignrs201793280RCV000938708|RCV001275998; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456407381456407388:g.145640738G>A-
NM_130849.4(SLC39A4):c.538G>A (p.Gly180Ser)55630SLC39A4Uncertain significancers374400812RCV001164853; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456407401456407408:g.145640740C>T-
NM_130849.4(SLC39A4):c.532A>T (p.Ser178Cys)55630SLC39A4Benignrs113717209RCV000280801|RCV000970194; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145640746145640746NC_000008.10:g.145640746T>AClinGen:CA4941654C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.527C>T (p.Pro176Leu)55630SLC39A4Likely benignrs543291496RCV000977648|RCV001275999; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456407511456407518:g.145640751G>A-
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val)55630SLC39A4Conflicting interpretations of pathogenicityrs141890870RCV000900671|RCV001159946; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456407601456407608:g.145640760G>A-
NM_130849.4(SLC39A4):c.510G>A (p.Ala170=)55630SLC39A4Conflicting interpretations of pathogenicityrs370387758RCV001159947|RCV001419786; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456407681456407688:g.145640768C>T-
NM_130849.4(SLC39A4):c.509C>T (p.Ala170Val)55630SLC39A4Uncertain significancers782235616RCV001159948; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456407691456407698:g.145640769G>A-
NM_130849.4(SLC39A4):c.504G>A (p.Glu168=)55630SLC39A4Benign/Likely benignrs138825974RCV000963918|RCV001159949; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456407741456407748:g.145640774C>T-
NM_130849.4(SLC39A4):c.480C>T (p.Cys160=)55630SLC39A4Likely benignrs367915055RCV000929356|RCV001276000; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456407981456407988:g.145640798G>A-
NM_130849.4(SLC39A4):c.475-2A>G55630SLC39A4Likely pathogenic-1RCV002024994|RCV002497946; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145640805145640805145640805-
NM_130849.4(SLC39A4):c.475-19G>A55630SLC39A4Pathogenic-1RCV000003714; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145640822145640822NC_000008.10:g.145640822C>TOMIM:607059.0003C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.473= (p.Met158=)55630SLC39A4Benignrs1871533RCV000340351|RCV000888670; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145641195145641195NC_000008.10:g.145641195G>AClinGen:CA4941700C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.465C>T (p.Thr155=)55630SLC39A4Conflicting interpretations of pathogenicityrs781789218RCV000404457|RCV002058711; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145641203145641203NC_000008.10:g.145641203G>AClinGen:CA4941704C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.456C>T (p.Ala152=)55630SLC39A4Likely benignrs201684850RCV001278661|RCV001424746; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456412121456412128:g.145641212G>A-
NM_130849.4(SLC39A4):c.435G>C (p.Gln145His)55630SLC39A4Uncertain significancers782216965RCV001159950; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456412331456412338:g.145641233C>G-
NM_130849.4(SLC39A4):c.390C>T (p.Leu130=)55630SLC39A4Conflicting interpretations of pathogenicityrs782454483RCV000900743|RCV001159951; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456412781456412788:g.145641278G>A-
NM_130849.4(SLC39A4):c.364C>T (p.His122Tyr)55630SLC39A4Uncertain significancers782564213RCV000305254; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145641304145641304NC_000008.10:g.145641304G>AClinGen:CA4941727C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.359C>T (p.Ala120Val)55630SLC39A4Likely benignrs547832653RCV000941576|RCV001276001; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456413091456413098:g.145641309G>A-
NM_130849.4(SLC39A4):c.340G>A (p.Ala114Thr)55630SLC39A4Benignrs17855765RCV000359976|RCV000455765|RCV001515873; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN169374|MedGen:CN5172028145641328145641328NC_000008.10:g.145641328C>TClinGen:CA4941734C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.339C>T (p.Asp113=)55630SLC39A4Likely benignrs374534193RCV000892077|RCV001276002; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456413291456413298:g.145641329G>A-
NM_130849.4(SLC39A4):c.324G>A (p.Glu108=)55630SLC39A4Likely benignrs149365806RCV001278662|RCV001413560; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456413441456413448:g.145641344C>T-
NM_130849.4(SLC39A4):c.321C>T (p.Pro107=)55630SLC39A4Benignrs148918238RCV000912618|RCV001825831; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456413471456413478:g.145641347G>A-
NM_130849.4(SLC39A4):c.318C>A (p.Asn106Lys)55630SLC39A4Pathogenicrs121434290RCV000003718; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456413501456413508:g.145641350G>TClinGen:CA116335,OMIM:607059.0007C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.301G>A (p.Val101Ile)55630SLC39A4Conflicting interpretations of pathogenicityrs372812102RCV000901177|RCV001161347; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456413671456413678:g.145641367C>T-
NM_130849.4(SLC39A4):c.300C>T (p.Ala100=)55630SLC39A4Likely benignrs374813285RCV000943016|RCV001276003; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456413681456413688:g.145641368G>A-
NM_130849.4(SLC39A4):c.297C>T (p.Ala99=)55630SLC39A4Likely benignrs369212608RCV000917445|RCV001276004; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456413711456413718:g.145641371G>A-
NM_130849.4(SLC39A4):c.294C>T (p.Ala98=)55630SLC39A4Likely benignrs376920807RCV000894513|RCV001830953; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456413741456413748:g.145641374G>A-
NM_130849.4(SLC39A4):c.285C>T (p.Arg95=)55630SLC39A4Conflicting interpretations of pathogenicityrs369544835RCV000907511|RCV001161348; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456413831456413838:g.145641383G>A-
NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys)55630SLC39A4Pathogenicrs121434292RCV000003722; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456413851456413858:g.145641385G>AOMIM:607059.0011,ClinGen:CA116339C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.277G>A (p.Val93Ile)55630SLC39A4Uncertain significancers782236518RCV001161349; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456413911456413918:g.145641391C>T-
NM_130849.4(SLC39A4):c.276C>T (p.Tyr92=)55630SLC39A4Benignrs4355816RCV000397969|RCV001510559; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145641392145641392NC_000008.10:g.145641392G>AClinGen:CA4941754C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.264G>A (p.Leu88=)55630SLC39A4Uncertain significance-1RCV001579133; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145641404145641404145641404-
NM_130849.4(SLC39A4):c.258G>A (p.Pro86=)55630SLC39A4Benignrs369791792RCV000894452|RCV001276005; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456414101456414108:g.145641410C>T-
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu)55630SLC39A4Conflicting interpretations of pathogenicityrs187080747RCV000306519|RCV000882616; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145641411145641411NC_000008.10:g.145641411G>AClinGen:CA4941759C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)55630SLC39A4Benign/Likely benignrs117535951RCV000365601|RCV000455228|RCV001515966; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN169374|MedGen:CN5172028145641417145641417NC_000008.10:g.145641417G>AClinGen:CA4941764C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.235G>A (p.Gly79Arg)55630SLC39A4Uncertain significancers1822180417RCV001162892; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456414331456414338:g.145641433C>T-
NM_130849.4(SLC39A4):c.225C>T (p.Gly75=)55630SLC39A4Benignrs376105192RCV000934214|RCV001271167; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456414431456414438:g.145641443G>A-
NM_130849.4(SLC39A4):c.216G>A (p.Leu72=)55630SLC39A4Likely benignrs782722255RCV000944671|RCV001832178; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456414521456414528:g.145641452C>T-
NM_130849.4(SLC39A4):c.213C>T (p.Ala71=)55630SLC39A4Conflicting interpretations of pathogenicityrs577104686RCV000930247|RCV001162893; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456414551456414558:g.145641455G>A-
NM_130849.4(SLC39A4):c.210C>T (p.Asp70=)55630SLC39A4Likely benignrs782410150RCV000943205|RCV001827008; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456414581456414588:g.145641458G>A-
NM_130849.4(SLC39A4):c.202G>T (p.Val68Leu)55630SLC39A4Likely benignrs190698611RCV000956687|RCV001276006; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456414661456414668:g.145641466C>A-
NM_130849.4(SLC39A4):c.193-7C>T55630SLC39A4Likely benignrs1554873926RCV001278663|RCV002069434; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456414821456414828:g.145641482G>A-
NM_130849.4(SLC39A4):c.193-8G>C55630SLC39A4Conflicting interpretations of pathogenicityrs529649181RCV000942446|RCV001162894; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456414831456414838:g.145641483C>G-
NM_130849.4(SLC39A4):c.193-89A>C55630SLC39A4Benign-1RCV001543988|RCV001647393; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145641564145641564145641564-
NM_130849.4(SLC39A4):c.193-113T>C55630SLC39A4Benign-1RCV001523523|RCV001832725; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145641588145641588145641588-
NM_130849.4(SLC39A4):c.192+7G>A55630SLC39A4Likely benignrs925582486RCV000912302|RCV001276007; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456419751456419758:g.145641975C>T-
NM_130849.4(SLC39A4):c.192+5C>A55630SLC39A4Benignrs73374077RCV000271224|RCV000947146; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145641977145641977NC_000008.10:g.145641977G>TClinGen:CA4941831C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.182C>T (p.Pro61Leu)55630SLC39A4Uncertain significancers537547977RCV001278664; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456419921456419928:g.145641992G>A-
NM_130849.4(SLC39A4):c.172G>A (p.Ala58Thr)55630SLC39A4Benignrs2280838RCV000330943|RCV000454589|RCV001515874; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN169374|MedGen:CN5172028145642002145642002NC_000008.10:g.145642002C>TClinGen:CA4941845C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.171C>T (p.Cys57=)55630SLC39A4Conflicting interpretations of pathogenicityrs781945467RCV000366898|RCV001447697; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145642003145642003NC_000008.10:g.145642003G>AClinGen:CA4941846C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.150G>A (p.Thr50=)55630SLC39A4Benign-1RCV001517078|RCV001826371; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145642024145642024145642024-
NM_130849.4(SLC39A4):c.138C>A (p.Gly46=)55630SLC39A4Conflicting interpretations of pathogenicityrs1822216217RCV001164974|RCV001443793; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN51720281456420361456420368:g.145642036G>T-
NM_130849.4(SLC39A4):c.104G>C (p.Gly35Ala)55630SLC39A4Uncertain significancers782604200RCV001164975; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456420701456420708:g.145642070C>G-
NM_130849.4(SLC39A4):c.92T>A (p.Leu31Gln)55630SLC39A4Uncertain significancers1822219021RCV001279438; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456420821456420828:g.145642082A>T-
NM_130849.4(SLC39A4):c.87G>A (p.Leu29=)55630SLC39A4Likely benignrs367624191RCV000909662|RCV001276008; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456420871456420878:g.145642087C>T-
NM_130849.4(SLC39A4):c.76G>T (p.Ala26Ser)55630SLC39A4Likely benignrs782044154RCV000918546|RCV001272621; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456420981456420988:g.145642098C>A-
NM_130849.4(SLC39A4):c.66G>A (p.Ala22=)55630SLC39A4Benignrs142910470RCV000956688|RCV001827044; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456421081456421088:g.145642108C>T-
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=)55630SLC39A4Benign/Likely benignrs13251676RCV000276651|RCV001516304; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37|MedGen:CN5172028145642111145642111NC_000008.10:g.145642111C>GClinGen:CA4941874C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.54G>A (p.Val18=)55630SLC39A4Likely benignrs200773351RCV000941876|RCV001272622; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456421201456421208:g.145642120C>T-
NM_130849.4(SLC39A4):c.10C>T (p.Leu4=)55630SLC39A4Benignrs144946747RCV000970195|RCV001273726; NMedGen:CN517202|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456421641456421648:g.145642164G>A-
NM_130849.4(SLC39A4):c.-10G>A55630SLC39A4Uncertain significancers372200912RCV000317747; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145642183145642183NC_000008.10:g.145642183C>TClinGen:CA4941892C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.-21T>G55630SLC39A4Benignrs77422016RCV000372301; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:378145642194145642194NC_000008.10:g.145642194A>CClinGen:CA4941896C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.3(SLC39A4):c.-90T>C55630SLC39A4Uncertain significancers1554874225RCV001160058; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456422631456422638:g.145642263A>G-
NM_130849.3(SLC39A4):c.-118G>A55630SLC39A4Likely benignrs138314827RCV001160059; NMONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:3781456422911456422918:g.145642291C>T-
MSeqDR Portal