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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Acrodermatitis (D000169)
..Starting node ..Acrodermatitis enteropathica (C538178)
Child Nodes:
Sister Nodes:
..Acrodermatitis 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 :
Genes: SLC39A4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0002293	Alopecia of scalp
4	HP:0001251	Ataxia
5	HP:0000224	Decreased taste sensation
6	HP:0008734	Decreased testicular size
7	HP:0008230	Decreased testosterone in males
8	HP:0002014	Diarrhea
9	HP:0000712	Emotional lability
10	HP:0001508	Failure to thrive
11	HP:0002240	Hepatomegaly
12	HP:0000135	Hypogonadism NAMDC: Hypoparathyroidism
13	HP:0005435	Impaired T cell function
14	HP:0000737	Irritability
15	HP:0001254	Lethargy
16	HP:0003282	Low alkaline phosphatase
17	HP:0001818	Paronychia
18	HP:0004396	Poor appetite
19	HP:0005401	Recurrent candida infections
20	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
21	HP:0001744	Splenomegaly
22	HP:0001337	Tremor

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_130849.4(SLC39A4):c.*61A>G	55630	SLC39A4	Uncertain significance	rs934570845	RCV001164640;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145637861	145637861	8:g.145637861T>C	-
NM_130849.4(SLC39A4):c.*28C>T	55630	SLC39A4	Uncertain significance	rs200717604	RCV001164641;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145637894	145637894	8:g.145637894G>A	-
NM_130849.4(SLC39A4):c.1937C>T (p.Thr646Ile)	55630	SLC39A4	Uncertain significance	rs1038762995	RCV001278655;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145637929	145637929	8:g.145637929G>A	-
NM_130849.4(SLC39A4):c.1924G>A (p.Glu642Lys)	55630	SLC39A4	Uncertain significance	rs782620896	RCV001164642;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145637942	145637942	8:g.145637942C>T	-
NM_130849.4(SLC39A4):c.1903C>T (p.Leu635=)	55630	SLC39A4	Likely benign	rs199706667	RCV000943912\|RCV001278656;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145637963	145637963	8:g.145637963G>A	-
NM_130849.4(SLC39A4):c.1851C>T (p.Pro617=)	55630	SLC39A4	Benign	rs61729885	RCV000922922\|RCV001836016;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638015	145638015	8:g.145638015G>A	-
NM_130849.4(SLC39A4):c.1837C>T (p.Arg613Trp)	55630	SLC39A4	Uncertain significance	rs781843190	RCV001164643;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638029	145638029	8:g.145638029G>A	-
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs144252108	RCV000905933\|RCV001164644;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638215	145638215	8:g.145638215G>A	-
NM_130849.4(SLC39A4):c.1735G>C (p.Val579Leu)	55630	SLC39A4	Uncertain significance	rs782658832	RCV001164645;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638223	145638223	8:g.145638223C>G	-
NM_130849.4(SLC39A4):c.1704G>A (p.Thr568=)	55630	SLC39A4	Benign	rs115808560	RCV000880869\|RCV001275489;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638254	145638254	8:g.145638254C>T	-
NM_130849.4(SLC39A4):c.1659G>C (p.Leu553=)	55630	SLC39A4	Benign	rs143778004	RCV000880595\|RCV001271165;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638299	145638299	8:g.145638299C>G	-
NM_130849.4(SLC39A4):c.1628-10T>C	55630	SLC39A4	Likely benign	rs782727114	RCV000982266\|RCV001275490;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638340	145638340	8:g.145638340A>G	-
NM_130849.4(SLC39A4):c.1576G>A (p.Gly526Arg)	55630	SLC39A4	Pathogenic	rs121434288	RCV000003716;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638672	145638672	8:g.145638672C>T	ClinGen:CA116331,OMIM:607059.0005	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1557C>T (p.Phe519=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs782606354	RCV001159725\|RCV001476550;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145638691	145638691	8:g.145638691G>A	-
NM_130849.4(SLC39A4):c.1536G>A (p.Gly512=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs886062745	RCV000290781\|RCV000976332;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145638712	145638712	NC_000008.10:g.145638712C>T	ClinGen:CA10630513	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1529C>G (p.Ala510Gly)	55630	SLC39A4	Uncertain significance	rs782365032	RCV001159726;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638719	145638719	8:g.145638719G>C	-
NM_130849.4(SLC39A4):c.1511A>G (p.Asp504Gly)	55630	SLC39A4	Uncertain significance	rs886062746	RCV000348067;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638737	145638737	NC_000008.10:g.145638737T>C	ClinGen:CA10630451	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1495A>G (p.Met499Val)	55630	SLC39A4	Benign	rs145832695	RCV000381628\|RCV000882209;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145638753	145638753	NC_000008.10:g.145638753T>C	ClinGen:CA4941174	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1465_1474+4del	55630	SLC39A4	Pathogenic/Likely pathogenic	rs782563835	RCV001266753\|RCV001377474\|RCV002499457;	N	MeSH:D030342,MedGen:C0950123\|MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638893	145638906	8:g.145638893_145638906del	-
NM_130849.4(SLC39A4):c.1461G>A (p.Arg487=)	55630	SLC39A4	Likely benign	rs376361002	RCV001275491\|RCV000921049;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145638910	145638910	8:g.145638910C>T	-
NM_130849.4(SLC39A4):c.1452T>A (p.Pro484=)	55630	SLC39A4	Likely benign	rs936284130	RCV000932545\|RCV001275492;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638919	145638919	8:g.145638919A>T	-
NM_130849.4(SLC39A4):c.1429G>A (p.Glu477Lys)	55630	SLC39A4	Uncertain significance	rs782756897	RCV001159727;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638942	145638942	8:g.145638942C>T	-
NM_130849.4(SLC39A4):c.1426G>C (p.Glu476Gln)	55630	SLC39A4	Uncertain significance	rs201400971	RCV000289476;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638945	145638945	NC_000008.10:g.145638945C>G	ClinGen:CA10625004	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1426G>A (p.Glu476Lys)	55630	SLC39A4	Uncertain significance	rs201400971	RCV000351467;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638945	145638945	NC_000008.10:g.145638945C>T	ClinGen:CA4941223	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1425G>C (p.Ala475=)	55630	SLC39A4	Uncertain significance	rs574571465	RCV001161124;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145638946	145638946	8:g.145638946C>G	-
NM_130849.4(SLC39A4):c.1409G>A (p.Arg470His)	55630	SLC39A4	Uncertain significance	rs782551696	RCV001161125;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639144	145639144	8:g.145639144C>T	-
NM_130849.4(SLC39A4):c.1391C>A (p.Pro464His)	55630	SLC39A4	Uncertain significance	rs1554872599	RCV001278657;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639162	145639162	8:g.145639162G>T	-
NM_130849.4(SLC39A4):c.1384C>T (p.Pro462Ser)	55630	SLC39A4	Uncertain significance	rs782302424	RCV001161126;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639169	145639169	8:g.145639169G>A	-
NM_130849.4(SLC39A4):c.1371C>T (p.Ser457=)	55630	SLC39A4	Uncertain significance	rs782042283	RCV001161127;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639182	145639182	8:g.145639182G>A	-
NM_130849.4(SLC39A4):c.1323T>C (p.His441=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs143819461	RCV000913725\|RCV001162682;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639230	145639230	8:g.145639230A>G	-
NM_130849.4(SLC39A4):c.1319G>C (p.Ser440Thr)	55630	SLC39A4	Uncertain significance	rs1221755475	RCV001162683;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639234	145639234	8:g.145639234C>G	-
NM_130849.4(SLC39A4):c.1299C>T (p.Asp433=)	55630	SLC39A4	Likely benign	rs528212894	RCV000928370\|RCV002505376;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639254	145639254	8:g.145639254G>A	-
NM_130849.4(SLC39A4):c.1287+22C>G	55630	SLC39A4	Benign	-1	RCV001543909\|RCV001673170;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145639320	145639320	145639320	-
NM_130849.4(SLC39A4):c.1284G>A (p.Pro428=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs141948792	RCV001162684\|RCV001407417;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145639345	145639345	8:g.145639345C>T	-
NM_130849.4(SLC39A4):c.1279G>C (p.Asp427His)	55630	SLC39A4	Uncertain significance	rs145813344	RCV001162685;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639350	145639350	8:g.145639350C>G	-
NM_130849.4(SLC39A4):c.1261A>T (p.Asn421Tyr)	55630	SLC39A4	Likely benign	rs373681902	RCV000941895\|RCV001275493;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639368	145639368	8:g.145639368T>A	-
NM_130849.4(SLC39A4):c.1257C>G (p.Leu419=)	55630	SLC39A4	Likely benign	rs782097184	RCV000981981\|RCV001275494;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639372	145639372	8:g.145639372G>C	-
NM_130849.4(SLC39A4):c.1234G>A (p.Ala412Thr)	55630	SLC39A4	Uncertain significance	rs781956407	RCV000406648;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639395	145639395	NC_000008.10:g.145639395C>T	ClinGen:CA4941321	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1224_1228del (p.Gly409fs)	55630	SLC39A4	Pathogenic	-1	RCV000003712;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639401	145639405	145639400	OMIM:607059.0001
NM_130849.4(SLC39A4):c.1225G>C (p.Gly409Arg)	55630	SLC39A4	Uncertain significance	rs1554872800	RCV001162686;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639404	145639404	8:g.145639404C>G	-
NM_130849.4(SLC39A4):c.1204C>T (p.Arg402Cys)	55630	SLC39A4	Likely benign	rs199542349	RCV000941083\|RCV001275495;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639425	145639425	8:g.145639425G>A	-
NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter)	55630	SLC39A4	Pathogenic	-1	RCV001381864\|RCV001831381;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639426	145639426	145639426	-
NM_130849.4(SLC39A4):c.1174G>C (p.Glu392Gln)	55630	SLC39A4	Uncertain significance	rs367660059	RCV000312232;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639455	145639455	NC_000008.10:g.145639455C>G	ClinGen:CA4941332	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1150G>A (p.Val384Met)	55630	SLC39A4	Uncertain significance	rs886062747	RCV000336853;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639479	145639479	NC_000008.10:g.145639479C>T	ClinGen:CA10630457	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1150-15G>A	55630	SLC39A4	Uncertain significance	rs200673705	RCV000393260;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639494	145639494	NC_000008.10:g.145639494C>T	ClinGen:CA4941341	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1149+10C>T	55630	SLC39A4	Benign	-1	RCV001515036\|RCV001826366;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639636	145639636	145639636	-
NM_130849.4(SLC39A4):c.1149+9C>T	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs139192292	RCV000939778\|RCV001164740;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639637	145639637	8:g.145639637G>A	-
NM_130849.4(SLC39A4):c.1149+8C>T	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs376765006	RCV000929684\|RCV001164741;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639638	145639638	8:g.145639638G>A	-
NM_130849.4(SLC39A4):c.1149+7C>T	55630	SLC39A4	Likely benign	rs782273130	RCV000928847\|RCV001275496;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639639	145639639	8:g.145639639G>A	-
NM_130849.4(SLC39A4):c.1149+2T>C	55630	SLC39A4	Likely pathogenic	rs1255730342	RCV001244526\|RCV001836230;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639644	145639644	8:g.145639644A>G	-
NM_130849.4(SLC39A4):c.1141A>G (p.Thr381Ala)	55630	SLC39A4	Benign/Likely benign	rs75920625	RCV000296860\|RCV001520475;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145639654	145639654	NC_000008.10:g.145639654T>C	ClinGen:CA4941389	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1126G>A (p.Ala376Thr)	55630	SLC39A4	Likely benign	rs200073988	RCV000354115\|RCV000914850;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145639669	145639669	NC_000008.10:g.145639669C>T	ClinGen:CA4941391	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1125C>T (p.Asp375=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs556780206	RCV000944299\|RCV001164742;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639670	145639670	8:g.145639670G>A	-
NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg)	55630	SLC39A4	Likely pathogenic	rs121434289	RCV000003717\|RCV001851627;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145639675	145639675	8:g.145639675C>T	ClinGen:CA116333,OMIM:607059.0006	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1118C>G (p.Thr373Ser)	55630	SLC39A4	Uncertain significance	rs368310239	RCV001278658;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639677	145639677	8:g.145639677G>C	-
NM_130849.4(SLC39A4):c.1114= (p.Val372=)	55630	SLC39A4	Benign	rs1871534	RCV000393204\|RCV001515871;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145639681	145639681	NC_000008.10:g.145639681G>C	ClinGen:CA4941399	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1018_1070dup (p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer)	55630	SLC39A4	Pathogenic	-1	RCV000003721;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639724	145639725	145639724	OMIM:607059.0010
NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala)	55630	SLC39A4	Benign	rs2272662	RCV000305246\|RCV000454515\|RCV001520476;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN169374\|MedGen:CN517202	8	145639726	145639726	NC_000008.10:g.145639726T>C	ClinGen:CA4941409	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1068C>T (p.Val356=)	55630	SLC39A4	Likely benign	-1	RCV001498568\|RCV001826338;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639727	145639727	145639727	-
NM_130849.4(SLC39A4):c.1066G>T (p.Val356Phe)	55630	SLC39A4	Uncertain significance	rs782320992	RCV001278659;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639729	145639729	8:g.145639729C>A	-
NM_130849.4(SLC39A4):c.1066del (p.Val356fs)	55630	SLC39A4	Pathogenic	-1	RCV001389028\|RCV001780371;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639729	145639729	145639728	-
NM_130849.4(SLC39A4):c.1059C>G (p.Cys353Trp)	55630	SLC39A4	Uncertain significance	rs1822069877	RCV001278660;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639736	145639736	8:g.145639736G>C	-
NM_130849.4(SLC39A4):c.1035C>A (p.Leu345=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs782166922	RCV000357897\|RCV001485761;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145639760	145639760	NC_000008.10:g.145639760G>T	ClinGen:CA4941418	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.1022C>T (p.Ala341Val)	55630	SLC39A4	Uncertain significance	rs200126079	RCV001159826\|RCV001528529;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145639773	145639773	8:g.145639773G>A	-
NM_130849.4(SLC39A4):c.1020C>T (p.Cys340=)	55630	SLC39A4	Likely benign	rs368844801	RCV000915129\|RCV001275995;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639775	145639775	8:g.145639775G>A	-
NM_130849.4(SLC39A4):c.1002G>A (p.Thr334=)	55630	SLC39A4	Likely benign	rs149524471	RCV000265537\|RCV000909347;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145639793	145639793	NC_000008.10:g.145639793C>T	ClinGen:CA4941429	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)	55630	SLC39A4	Pathogenic	rs121434291	RCV000003720;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639806	145639806	8:g.145639806C>T	ClinGen:CA116337,OMIM:607059.0009	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.977-1G>A	55630	SLC39A4	Likely pathogenic	-1	RCV002005676\|RCV002492239;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145639819	145639819	145639819	-
NM_130849.4(SLC39A4):c.976+15C>T	55630	SLC39A4	Likely benign	rs183614749	RCV001159827;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640094	145640094	8:g.145640094G>A	-
NM_130849.4(SLC39A4):c.970_973del (p.Ser324fs)	55630	SLC39A4	Pathogenic	-1	RCV000003713;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640112	145640115	145640111	OMIM:607059.0002
NM_130849.4(SLC39A4):c.948C>T (p.Pro316=)	55630	SLC39A4	Benign/Likely benign	rs60615103	RCV000327542\|RCV000953603;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145640137	145640137	NC_000008.10:g.145640137G>A	ClinGen:CA4941476	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.909G>C (p.Gln303His)	55630	SLC39A4	Pathogenic	rs121434293	RCV000003723;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640176	145640176	8:g.145640176C>G	ClinGen:CA116341,OMIM:607059.0012	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.869C>T (p.Pro290Leu)	55630	SLC39A4	Uncertain significance	rs142764754	RCV000365889;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640216	145640216	NC_000008.10:g.145640216G>A	ClinGen:CA4941492	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.862del (p.Gly287_Val288insTer)	55630	SLC39A4	Pathogenic/Likely pathogenic	-1	RCV001951254\|RCV002497883;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640223	145640223	145640222	-
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys)	55630	SLC39A4	Benign/Likely benign	rs7823979	RCV000269123\|RCV000430233;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145640235	145640235	NC_000008.10:g.145640235C>T	ClinGen:CA4941500	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.848C>T (p.Ser283Leu)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs150864996	RCV001161231\|RCV002070996;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145640237	145640237	8:g.145640237G>A	-
NM_130849.4(SLC39A4):c.805-12G>T	55630	SLC39A4	Likely benign	rs139609894	RCV000326496;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640292	145640292	NC_000008.10:g.145640292C>A	ClinGen:CA4941517	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.804+9C>T	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs200693339	RCV000388165\|RCV000928572;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145640349	145640349	NC_000008.10:g.145640349G>A	ClinGen:CA4941535	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.804G>A (p.Thr268=)	55630	SLC39A4	Uncertain significance	rs375732094	RCV000296212;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640358	145640358	NC_000008.10:g.145640358C>T	ClinGen:CA4941537	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.803C>T (p.Thr268Met)	55630	SLC39A4	Uncertain significance	rs185494598	RCV000330178;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640359	145640359	NC_000008.10:g.145640359G>A	ClinGen:CA4941538	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.751= (p.Arg251=)	55630	SLC39A4	Benign	rs2977838	RCV000455209\|RCV001515872\|RCV001543987;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640411	145640411	8:g.145640411A>G	ClinGen:CA4941552	CN169374 not specified;
NM_130849.4(SLC39A4):c.744C>T (p.Ala248=)	55630	SLC39A4	Likely benign	rs201676788	RCV000895735\|RCV001271166;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640418	145640418	8:g.145640418G>A	-
NM_130849.4(SLC39A4):c.723C>T (p.His241=)	55630	SLC39A4	Likely benign	-1	RCV001452119\|RCV001832585;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640439	145640439	145640439	-
NM_130849.4(SLC39A4):c.668-10T>C	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs886062749	RCV000387071\|RCV001481995;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145640504	145640504	NC_000008.10:g.145640504A>G	ClinGen:CA10630518	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.666C>T (p.Ala222=)	55630	SLC39A4	Uncertain significance	rs116345186	RCV001162785;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640612	145640612	8:g.145640612G>A	-
NM_130849.4(SLC39A4):c.659C>T (p.Thr220Met)	55630	SLC39A4	Uncertain significance	-1	RCV001570335\|RCV001827500;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640619	145640619	145640619	-
NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs200524049	RCV000976566\|RCV001164852;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640632	145640632	8:g.145640632C>T	-
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs201681875	RCV000279706\|RCV000930686;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145640663	145640663	NC_000008.10:g.145640663G>A	ClinGen:CA4941630	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)	55630	SLC39A4	Likely pathogenic	rs121434287	RCV000003715\|RCV001042457;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145640679	145640679	8:g.145640679G>A	ClinGen:CA116329,OMIM:607059.0004	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.595T>C (p.Leu199=)	55630	SLC39A4	Likely benign	rs141199511	RCV000886073\|RCV001830938;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640683	145640683	8:g.145640683A>G	-
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs782355343	RCV000334708\|RCV000931997;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145640684	145640684	NC_000008.10:g.145640684G>A	ClinGen:CA4941635	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.592G>A (p.Ala198Thr)	55630	SLC39A4	Uncertain significance	rs781818806	RCV000404935;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640686	145640686	NC_000008.10:g.145640686C>T	ClinGen:CA4941636	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.591C>T (p.His197=)	55630	SLC39A4	Likely benign	rs200819089	RCV000978177\|RCV001827083;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640687	145640687	8:g.145640687G>A	-
NM_130849.4(SLC39A4):c.558G>C (p.Leu186=)	55630	SLC39A4	Likely benign	rs199632014	RCV000975531\|RCV001275996;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640720	145640720	8:g.145640720C>G	-
NM_130849.4(SLC39A4):c.543C>T (p.Gly181=)	55630	SLC39A4	Likely benign	rs565516931	RCV000918506\|RCV001275997;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640735	145640735	8:g.145640735G>A	-
NM_130849.4(SLC39A4):c.540C>T (p.Gly180=)	55630	SLC39A4	Likely benign	rs201793280	RCV000938708\|RCV001275998;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640738	145640738	8:g.145640738G>A	-
NM_130849.4(SLC39A4):c.538G>A (p.Gly180Ser)	55630	SLC39A4	Uncertain significance	rs374400812	RCV001164853;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640740	145640740	8:g.145640740C>T	-
NM_130849.4(SLC39A4):c.532A>T (p.Ser178Cys)	55630	SLC39A4	Benign	rs113717209	RCV000280801\|RCV000970194;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145640746	145640746	NC_000008.10:g.145640746T>A	ClinGen:CA4941654	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.527C>T (p.Pro176Leu)	55630	SLC39A4	Likely benign	rs543291496	RCV000977648\|RCV001275999;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640751	145640751	8:g.145640751G>A	-
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs141890870	RCV000900671\|RCV001159946;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640760	145640760	8:g.145640760G>A	-
NM_130849.4(SLC39A4):c.510G>A (p.Ala170=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs370387758	RCV001159947\|RCV001419786;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145640768	145640768	8:g.145640768C>T	-
NM_130849.4(SLC39A4):c.509C>T (p.Ala170Val)	55630	SLC39A4	Uncertain significance	rs782235616	RCV001159948;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640769	145640769	8:g.145640769G>A	-
NM_130849.4(SLC39A4):c.504G>A (p.Glu168=)	55630	SLC39A4	Benign/Likely benign	rs138825974	RCV000963918\|RCV001159949;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640774	145640774	8:g.145640774C>T	-
NM_130849.4(SLC39A4):c.480C>T (p.Cys160=)	55630	SLC39A4	Likely benign	rs367915055	RCV000929356\|RCV001276000;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640798	145640798	8:g.145640798G>A	-
NM_130849.4(SLC39A4):c.475-2A>G	55630	SLC39A4	Likely pathogenic	-1	RCV002024994\|RCV002497946;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640805	145640805	145640805	-
NM_130849.4(SLC39A4):c.475-19G>A	55630	SLC39A4	Pathogenic	-1	RCV000003714;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145640822	145640822	NC_000008.10:g.145640822C>T	OMIM:607059.0003	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.473= (p.Met158=)	55630	SLC39A4	Benign	rs1871533	RCV000340351\|RCV000888670;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145641195	145641195	NC_000008.10:g.145641195G>A	ClinGen:CA4941700	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.465C>T (p.Thr155=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs781789218	RCV000404457\|RCV002058711;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145641203	145641203	NC_000008.10:g.145641203G>A	ClinGen:CA4941704	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.456C>T (p.Ala152=)	55630	SLC39A4	Likely benign	rs201684850	RCV001278661\|RCV001424746;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145641212	145641212	8:g.145641212G>A	-
NM_130849.4(SLC39A4):c.435G>C (p.Gln145His)	55630	SLC39A4	Uncertain significance	rs782216965	RCV001159950;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641233	145641233	8:g.145641233C>G	-
NM_130849.4(SLC39A4):c.390C>T (p.Leu130=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs782454483	RCV000900743\|RCV001159951;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641278	145641278	8:g.145641278G>A	-
NM_130849.4(SLC39A4):c.364C>T (p.His122Tyr)	55630	SLC39A4	Uncertain significance	rs782564213	RCV000305254;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641304	145641304	NC_000008.10:g.145641304G>A	ClinGen:CA4941727	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.359C>T (p.Ala120Val)	55630	SLC39A4	Likely benign	rs547832653	RCV000941576\|RCV001276001;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641309	145641309	8:g.145641309G>A	-
NM_130849.4(SLC39A4):c.340G>A (p.Ala114Thr)	55630	SLC39A4	Benign	rs17855765	RCV000359976\|RCV000455765\|RCV001515873;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN169374\|MedGen:CN517202	8	145641328	145641328	NC_000008.10:g.145641328C>T	ClinGen:CA4941734	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.339C>T (p.Asp113=)	55630	SLC39A4	Likely benign	rs374534193	RCV000892077\|RCV001276002;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641329	145641329	8:g.145641329G>A	-
NM_130849.4(SLC39A4):c.324G>A (p.Glu108=)	55630	SLC39A4	Likely benign	rs149365806	RCV001278662\|RCV001413560;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145641344	145641344	8:g.145641344C>T	-
NM_130849.4(SLC39A4):c.321C>T (p.Pro107=)	55630	SLC39A4	Benign	rs148918238	RCV000912618\|RCV001825831;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641347	145641347	8:g.145641347G>A	-
NM_130849.4(SLC39A4):c.318C>A (p.Asn106Lys)	55630	SLC39A4	Pathogenic	rs121434290	RCV000003718;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641350	145641350	8:g.145641350G>T	ClinGen:CA116335,OMIM:607059.0007	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.301G>A (p.Val101Ile)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs372812102	RCV000901177\|RCV001161347;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641367	145641367	8:g.145641367C>T	-
NM_130849.4(SLC39A4):c.300C>T (p.Ala100=)	55630	SLC39A4	Likely benign	rs374813285	RCV000943016\|RCV001276003;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641368	145641368	8:g.145641368G>A	-
NM_130849.4(SLC39A4):c.297C>T (p.Ala99=)	55630	SLC39A4	Likely benign	rs369212608	RCV000917445\|RCV001276004;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641371	145641371	8:g.145641371G>A	-
NM_130849.4(SLC39A4):c.294C>T (p.Ala98=)	55630	SLC39A4	Likely benign	rs376920807	RCV000894513\|RCV001830953;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641374	145641374	8:g.145641374G>A	-
NM_130849.4(SLC39A4):c.285C>T (p.Arg95=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs369544835	RCV000907511\|RCV001161348;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641383	145641383	8:g.145641383G>A	-
NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys)	55630	SLC39A4	Pathogenic	rs121434292	RCV000003722;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641385	145641385	8:g.145641385G>A	OMIM:607059.0011,ClinGen:CA116339	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.277G>A (p.Val93Ile)	55630	SLC39A4	Uncertain significance	rs782236518	RCV001161349;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641391	145641391	8:g.145641391C>T	-
NM_130849.4(SLC39A4):c.276C>T (p.Tyr92=)	55630	SLC39A4	Benign	rs4355816	RCV000397969\|RCV001510559;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145641392	145641392	NC_000008.10:g.145641392G>A	ClinGen:CA4941754	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.264G>A (p.Leu88=)	55630	SLC39A4	Uncertain significance	-1	RCV001579133;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641404	145641404	145641404	-
NM_130849.4(SLC39A4):c.258G>A (p.Pro86=)	55630	SLC39A4	Benign	rs369791792	RCV000894452\|RCV001276005;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641410	145641410	8:g.145641410C>T	-
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs187080747	RCV000306519\|RCV000882616;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145641411	145641411	NC_000008.10:g.145641411G>A	ClinGen:CA4941759	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)	55630	SLC39A4	Benign/Likely benign	rs117535951	RCV000365601\|RCV000455228\|RCV001515966;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN169374\|MedGen:CN517202	8	145641417	145641417	NC_000008.10:g.145641417G>A	ClinGen:CA4941764	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.235G>A (p.Gly79Arg)	55630	SLC39A4	Uncertain significance	rs1822180417	RCV001162892;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641433	145641433	8:g.145641433C>T	-
NM_130849.4(SLC39A4):c.225C>T (p.Gly75=)	55630	SLC39A4	Benign	rs376105192	RCV000934214\|RCV001271167;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641443	145641443	8:g.145641443G>A	-
NM_130849.4(SLC39A4):c.216G>A (p.Leu72=)	55630	SLC39A4	Likely benign	rs782722255	RCV000944671\|RCV001832178;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641452	145641452	8:g.145641452C>T	-
NM_130849.4(SLC39A4):c.213C>T (p.Ala71=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs577104686	RCV000930247\|RCV001162893;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641455	145641455	8:g.145641455G>A	-
NM_130849.4(SLC39A4):c.210C>T (p.Asp70=)	55630	SLC39A4	Likely benign	rs782410150	RCV000943205\|RCV001827008;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641458	145641458	8:g.145641458G>A	-
NM_130849.4(SLC39A4):c.202G>T (p.Val68Leu)	55630	SLC39A4	Likely benign	rs190698611	RCV000956687\|RCV001276006;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641466	145641466	8:g.145641466C>A	-
NM_130849.4(SLC39A4):c.193-7C>T	55630	SLC39A4	Likely benign	rs1554873926	RCV001278663\|RCV002069434;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145641482	145641482	8:g.145641482G>A	-
NM_130849.4(SLC39A4):c.193-8G>C	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs529649181	RCV000942446\|RCV001162894;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641483	145641483	8:g.145641483C>G	-
NM_130849.4(SLC39A4):c.193-89A>C	55630	SLC39A4	Benign	-1	RCV001543988\|RCV001647393;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145641564	145641564	145641564	-
NM_130849.4(SLC39A4):c.193-113T>C	55630	SLC39A4	Benign	-1	RCV001523523\|RCV001832725;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641588	145641588	145641588	-
NM_130849.4(SLC39A4):c.192+7G>A	55630	SLC39A4	Likely benign	rs925582486	RCV000912302\|RCV001276007;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641975	145641975	8:g.145641975C>T	-
NM_130849.4(SLC39A4):c.192+5C>A	55630	SLC39A4	Benign	rs73374077	RCV000271224\|RCV000947146;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145641977	145641977	NC_000008.10:g.145641977G>T	ClinGen:CA4941831	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.182C>T (p.Pro61Leu)	55630	SLC39A4	Uncertain significance	rs537547977	RCV001278664;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145641992	145641992	8:g.145641992G>A	-
NM_130849.4(SLC39A4):c.172G>A (p.Ala58Thr)	55630	SLC39A4	Benign	rs2280838	RCV000330943\|RCV000454589\|RCV001515874;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN169374\|MedGen:CN517202	8	145642002	145642002	NC_000008.10:g.145642002C>T	ClinGen:CA4941845	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.171C>T (p.Cys57=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs781945467	RCV000366898\|RCV001447697;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145642003	145642003	NC_000008.10:g.145642003G>A	ClinGen:CA4941846	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.150G>A (p.Thr50=)	55630	SLC39A4	Benign	-1	RCV001517078\|RCV001826371;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642024	145642024	145642024	-
NM_130849.4(SLC39A4):c.138C>A (p.Gly46=)	55630	SLC39A4	Conflicting interpretations of pathogenicity	rs1822216217	RCV001164974\|RCV001443793;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145642036	145642036	8:g.145642036G>T	-
NM_130849.4(SLC39A4):c.104G>C (p.Gly35Ala)	55630	SLC39A4	Uncertain significance	rs782604200	RCV001164975;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642070	145642070	8:g.145642070C>G	-
NM_130849.4(SLC39A4):c.92T>A (p.Leu31Gln)	55630	SLC39A4	Uncertain significance	rs1822219021	RCV001279438;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642082	145642082	8:g.145642082A>T	-
NM_130849.4(SLC39A4):c.87G>A (p.Leu29=)	55630	SLC39A4	Likely benign	rs367624191	RCV000909662\|RCV001276008;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642087	145642087	8:g.145642087C>T	-
NM_130849.4(SLC39A4):c.76G>T (p.Ala26Ser)	55630	SLC39A4	Likely benign	rs782044154	RCV000918546\|RCV001272621;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642098	145642098	8:g.145642098C>A	-
NM_130849.4(SLC39A4):c.66G>A (p.Ala22=)	55630	SLC39A4	Benign	rs142910470	RCV000956688\|RCV001827044;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642108	145642108	8:g.145642108C>T	-
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=)	55630	SLC39A4	Benign/Likely benign	rs13251676	RCV000276651\|RCV001516304;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37\|MedGen:CN517202	8	145642111	145642111	NC_000008.10:g.145642111C>G	ClinGen:CA4941874	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.54G>A (p.Val18=)	55630	SLC39A4	Likely benign	rs200773351	RCV000941876\|RCV001272622;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642120	145642120	8:g.145642120C>T	-
NM_130849.4(SLC39A4):c.10C>T (p.Leu4=)	55630	SLC39A4	Benign	rs144946747	RCV000970195\|RCV001273726;	N	MedGen:CN517202\|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642164	145642164	8:g.145642164G>A	-
NM_130849.4(SLC39A4):c.-10G>A	55630	SLC39A4	Uncertain significance	rs372200912	RCV000317747;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642183	145642183	NC_000008.10:g.145642183C>T	ClinGen:CA4941892	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.4(SLC39A4):c.-21T>G	55630	SLC39A4	Benign	rs77422016	RCV000372301;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642194	145642194	NC_000008.10:g.145642194A>C	ClinGen:CA4941896	C0221036 201100 Hereditary acrodermatitis enteropathica;
NM_130849.3(SLC39A4):c.-90T>C	55630	SLC39A4	Uncertain significance	rs1554874225	RCV001160058;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642263	145642263	8:g.145642263A>G	-
NM_130849.3(SLC39A4):c.-118G>A	55630	SLC39A4	Likely benign	rs138314827	RCV001160059;	N	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100, Orphanet:37	8	145642291	145642291	8:g.145642291C>T	-

MSeqDR Portal

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