Total 49 pathogenic variants reported for Hereditary acrodermatitis enteropathica 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_130849.4(SLC39A4):c.475-19G>A SNV
Germline
Chr8:144415438 Pathogenic Hereditary acrodermatitis enteropathica No Assertion Criteria Provided
rs_781908504

1 SubmittersRCV000003714

NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) SNV
Germline
Chr8:144415295 Pathogenic/Likely pathogenic Hereditary acrodermatitis enteropathica
Condition: not provided
SLC39A4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA116329 rs_121434287

6 SubmittersRCV000003715RCV001042457RCV003415640

NM_130849.4(SLC39A4):c.1576G>A (p.Gly526Arg) SNV
Germline
Chr8:144413288 Pathogenic Hereditary acrodermatitis enteropathica No Assertion Criteria Provided
CA116331 rs_121434288

1 SubmittersRCV000003716

NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg) SNV
Germline
Chr8:144414291 Likely pathogenic Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Single Submitter
CA116333 rs_121434289

2 SubmittersRCV000003717RCV001851627

NM_130849.4(SLC39A4):c.318C>A (p.Asn106Lys) SNV
Germline
Chr8:144415966 Pathogenic Hereditary acrodermatitis enteropathica No Assertion Criteria Provided
CA116335 rs_121434290

1 SubmittersRCV000003718

NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp) SNV
Germline
Chr8:144414422 Pathogenic Hereditary acrodermatitis enteropathica No Assertion Criteria Provided
CA116337 rs_121434291

1 SubmittersRCV000003720

NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys) SNV
Germline
Chr8:144416001 Pathogenic Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA116339 rs_121434292

3 SubmittersRCV000003722RCV002512719

NM_130849.4(SLC39A4):c.909G>C (p.Gln303His) SNV
Germline
Chr8:144414792 Pathogenic Hereditary acrodermatitis enteropathica No Assertion Criteria Provided
CA116341 rs_121434293

1 SubmittersRCV000003723

NM_130849.4(SLC39A4):c.594C>T (p.Ala198=) SNV
Germline
Chr8:144415300 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4941635 rs_782355343

3 SubmittersRCV000334708RCV000931997

NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu) SNV
Germline
Chr8:144416027 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4941759 rs_187080747

5 SubmittersRCV000306519RCV000882616

NM_130849.4(SLC39A4):c.1150-15G>A SNV
Germline
Chr8:144414110 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4941341 rs_200673705

2 SubmittersRCV000393260RCV003574762

NM_130849.4(SLC39A4):c.804+9C>T SNV
Germline
Chr8:144414965 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4941535 rs_200693339

3 SubmittersRCV000388165RCV000928572

NM_130849.4(SLC39A4):c.615C>T (p.Phe205=) SNV
Germline
Chr8:144415279 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4941630 rs_201681875

3 SubmittersRCV000279706RCV000930686

NM_130849.4(SLC39A4):c.1035C>A (p.Leu345=) SNV
Germline
Chr8:144414376 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4941418 rs_782166922

2 SubmittersRCV000357897RCV001485761

NM_130849.4(SLC39A4):c.1536G>A (p.Gly512=) SNV
Germline
Chr8:144413328 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10630513 rs_886062745

2 SubmittersRCV000290781RCV000976332

NM_130849.4(SLC39A4):c.668-10T>C SNV
Germline
Chr8:144415120 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10630518 rs_886062749

2 SubmittersRCV000387071RCV001481995

NM_130849.4(SLC39A4):c.465C>T (p.Thr155=) SNV
Germline
Chr8:144415819 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4941704 rs_781789218

2 SubmittersRCV000404457RCV002058711

NM_130849.4(SLC39A4):c.171C>T (p.Cys57=) SNV
Germline
Chr8:144416619 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4941846 rs_781945467

2 SubmittersRCV000366898RCV001447697

NM_130849.4(SLC39A4):c.1743C>T (p.Val581=) SNV
Germline
Chr8:144412831 Conflicting classifications of pathogenicity Condition: not provided
Hereditary acrodermatitis enteropathica
SLC39A4-related disorder
Criteria Provided
Conflicting Classifications
rs_144252108

5 SubmittersRCV000905933RCV001164644RCV003910829

NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val) SNV
Germline
Chr8:144415376 Conflicting classifications of pathogenicity Condition: not provided
Hereditary acrodermatitis enteropathica
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_141890870

4 SubmittersRCV000900671RCV001159946RCV002537543

NM_130849.4(SLC39A4):c.390C>T (p.Leu130=) SNV
Germline
Chr8:144415894 Conflicting classifications of pathogenicity Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Conflicting Classifications
rs_782454483

3 SubmittersRCV000900743RCV001159951

NM_130849.4(SLC39A4):c.301G>A (p.Val101Ile) SNV
Germline
Chr8:144415983 Conflicting classifications of pathogenicity Condition: not provided
Hereditary acrodermatitis enteropathica
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_372812102

4 SubmittersRCV000901177RCV001161347RCV002537545

NM_130849.4(SLC39A4):c.285C>T (p.Arg95=) SNV
Germline
Chr8:144415999 Conflicting classifications of pathogenicity Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Conflicting Classifications
rs_369544835

3 SubmittersRCV000907511RCV001161348

NM_130849.4(SLC39A4):c.1323T>C (p.His441=) SNV
Germline
Chr8:144413846 Conflicting classifications of pathogenicity Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Conflicting Classifications
rs_143819461

3 SubmittersRCV000913725RCV001162682

NM_130849.4(SLC39A4):c.1125C>T (p.Asp375=) SNV
Germline
Chr8:144414286 Conflicting classifications of pathogenicity Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Conflicting Classifications
rs_556780206

2 SubmittersRCV000944299RCV001164742

NM_130849.4(SLC39A4):c.213C>T (p.Ala71=) SNV
Germline
Chr8:144416071 Conflicting classifications of pathogenicity Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Conflicting Classifications
rs_577104686

3 SubmittersRCV000930247RCV001162893

NM_130849.4(SLC39A4):c.1149+9C>T SNV
Germline
Chr8:144414253 Conflicting classifications of pathogenicity Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Conflicting Classifications
rs_139192292

3 SubmittersRCV000939778RCV001164740

NM_130849.4(SLC39A4):c.193-8G>C SNV
Germline
Chr8:144416099 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_529649181

2 SubmittersRCV001162894RCV000942446

NM_130849.4(SLC39A4):c.1149+8C>T SNV
Germline
Chr8:144414254 Conflicting classifications of pathogenicity Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Conflicting Classifications
rs_376765006

4 SubmittersRCV000929684RCV001164741

NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys) SNV
Germline
Chr8:144415248 Conflicting classifications of pathogenicity Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Conflicting Classifications
rs_200524049

3 SubmittersRCV000976566RCV001164852

NM_130849.4(SLC39A4):c.1557C>T (p.Phe519=) SNV
Germline
Chr8:144413307 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_782606354

2 SubmittersRCV001159725RCV001476550

NM_130849.4(SLC39A4):c.1425G>C (p.Ala475=) SNV
Germline
Chr8:144413562 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_574571465

2 SubmittersRCV001161124RCV002558531

NM_130849.4(SLC39A4):c.1284G>A (p.Pro428=) SNV
Germline
Chr8:144413961 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_141948792

2 SubmittersRCV001162684RCV001407417

NM_130849.4(SLC39A4):c.848C>T (p.Ser283Leu) SNV
Germline
Chr8:144414853 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
SLC39A4-related disorder
Criteria Provided
Conflicting Classifications
rs_150864996

3 SubmittersRCV001161231RCV002070996RCV003938533

NM_130849.4(SLC39A4):c.510G>A (p.Ala170=) SNV
Germline
Chr8:144415384 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_370387758

2 SubmittersRCV001159947RCV001419786

NM_130849.4(SLC39A4):c.138C>A (p.Gly46=) SNV
Germline
Chr8:144416652 Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1822216217

2 SubmittersRCV001164974RCV001443793

NM_130849.4(SLC39A4):c.1149+2T>C SNV
Germline
Chr8:144414260 Likely pathogenic Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Single Submitter
rs_1255730342

2 SubmittersRCV001244526RCV001836230

NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter) SNV
Germline
Chr8:144414042 Pathogenic Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Single Submitter
rs_200482978

2 SubmittersRCV001381864RCV001831381

NM_130849.4(SLC39A4):c.475-2A>G SNV
Germline
Chr8:144415421 Likely pathogenic Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Multiple Submitters
No Conflicts
rs_1554873649

2 SubmittersRCV002024994RCV002497946

NM_130849.4(SLC39A4):c.192+19G>A SNV
Germline
Chr8:144416579 Pathogenic Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Multiple Submitters
No Conflicts
rs_368996660

2 SubmittersRCV001970139RCV003485754

NM_130849.4(SLC39A4):c.977-1G>A SNV
Germline
Chr8:144414435 Likely pathogenic Condition: not provided
Hereditary acrodermatitis enteropathica
Criteria Provided
Multiple Submitters
No Conflicts
rs_2130798128

2 SubmittersRCV002005676RCV002492239

NM_130849.4(SLC39A4):c.1888G>C (p.Gly630Arg) SNV
Germline
Chr8:144412594 Likely pathogenic Hereditary acrodermatitis enteropathica Criteria Provided
Single Submitter

1 SubmittersRCV003134068