Total 54 pathogenic variants reported for Amelocerebrohypohidrotic syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter) SNV
Germline		 Chr16:4800548 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA129773 rs_387907145

3 SubmittersRCV000024225
NM_024589.3(ROGDI):c.531+5G>C SNV
Germline		 Chr16:4798564 Likely pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter
 CA129776 rs_749657986

2 SubmittersRCV000024226
NM_024589.3(ROGDI):c.532-2A>T SNV
Germline		 Chr16:4798186 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter
 CA129777 rs_786205119

2 SubmittersRCV000024227
NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter) SNV
Germline		 Chr16:4798631 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA129778 rs_387907146

4 SubmittersRCV000024228
NM_024589.3(ROGDI):c.783C>T (p.Phe261=) SNV
Germline		 Chr16:4797753 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome
Condition: not provided
ROGDI-related disorder		 Criteria Provided
Conflicting Classifications
 CA7882486 rs_142481526

5 SubmittersRCV000232912RCV001706274RCV003930000
NM_024589.3(ROGDI):c.243C>T (p.Ala81=) SNV
Germline		 Chr16:4801279 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome
ROGDI-related disorder		 Criteria Provided
Conflicting Classifications
 CA7882883 rs_148051351

3 SubmittersRCV000231308RCV003907893
NM_024589.3(ROGDI):c.567G>A (p.Leu189=) SNV
Germline		 Chr16:4798149 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7882635 rs_143000899

4 SubmittersRCV000280974RCV000712940
NM_024589.3(ROGDI):c.822+14G>A SNV
Germline		 Chr16:4797700 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome Criteria Provided
Conflicting Classifications
 CA7882465 rs_200558978

2 SubmittersRCV000274798
NM_024589.3(ROGDI):c.625C>G (p.Leu209Val) SNV
Germline		 Chr16:4798091 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome
Condition: not provided
ROGDI-related disorder		 Criteria Provided
Conflicting Classifications
 CA7882611 rs_144866271

5 SubmittersRCV000375529RCV001507336RCV003922347
NM_024589.3(ROGDI):c.532-4G>A SNV
Germline		 Chr16:4798188 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7882653 rs_3747610

4 SubmittersRCV000340704RCV001532277
NM_024589.3(ROGDI):c.822+8C>T SNV
Germline		 Chr16:4797706 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome
ROGDI-related disorder		 Criteria Provided
Conflicting Classifications
 CA7882469 rs_376868221

3 SubmittersRCV000475111RCV003970349
NM_024589.3(ROGDI):c.118-2A>G SNV
Germline		 Chr16:4801587 Likely pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter
 CA16615342 rs_1060502981

1 SubmittersRCV000471198
NM_024589.3(ROGDI):c.378G>C (p.Leu126=) SNV
Germline		 Chr16:4799740 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7882763 rs_145588848

3 SubmittersRCV000551835RCV003424102
NM_024589.3(ROGDI):c.555G>C (p.Pro185=) SNV
Germline		 Chr16:4798161 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7882640 rs_771793763

3 SubmittersRCV000545592RCV000992758
NM_024589.3(ROGDI):c.340C>T (p.Gln114Ter) SNV
Germline		 Chr16:4799778 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA394653691 rs_1555491350

2 SubmittersRCV000534528
NM_024589.3(ROGDI):c.334C>T (p.Gln112Ter) SNV
Germline		 Chr16:4800500 Pathogenic Condition: not provided
Amelocerebrohypohidrotic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7882797 rs_372097881

2 SubmittersRCV000598791RCV001213867
NM_024589.3(ROGDI):c.117+1G>A SNV
Germline		 Chr16:4802381 Pathogenic/Likely pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_570952151

2 SubmittersRCV000685237
NM_024589.3(ROGDI):c.828C>T (p.Ser276=) SNV
Germline		 Chr16:4797496 Conflicting classifications of pathogenicity Condition: not provided
Amelocerebrohypohidrotic syndrome		 Criteria Provided
Conflicting Classifications
 rs_767023578

2 SubmittersRCV000762186RCV001442062
NM_024589.3(ROGDI):c.645+2T>A SNV
Germline		 Chr16:4798069 Likely pathogenic Condition: not provided
Amelocerebrohypohidrotic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_754417953

2 SubmittersRCV001824380RCV000810444
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) SNV
Germline		 Chr16:4797741 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome Criteria Provided
Conflicting Classifications
 rs_749782882

2 SubmittersRCV000920995
NM_024589.3(ROGDI):c.514G>A (p.Ala172Thr) SNV
Germline		 Chr16:4798586 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201213891

2 SubmittersRCV001036395RCV002264146
NM_024589.3(ROGDI):c.753C>T (p.Ile251=) SNV
Germline		 Chr16:4797783 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome Criteria Provided
Conflicting Classifications
 rs_144581570

2 SubmittersRCV001119446
NM_024589.3(ROGDI):c.507C>T (p.Pro169=) SNV
Germline		 Chr16:4798593 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_767771299

3 SubmittersRCV001121441RCV003425937
NM_024589.3(ROGDI):c.823-15C>T SNV
Germline		 Chr16:4797516 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome Criteria Provided
Conflicting Classifications
 rs_372520122

2 SubmittersRCV001119445
NM_024589.3(ROGDI):c.432+13C>T SNV
Germline		 Chr16:4799673 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome Criteria Provided
Conflicting Classifications
 rs_371432203

2 SubmittersRCV001116549
NM_024589.3(ROGDI):c.117+1G>T SNV
Germline		 Chr16:4802381 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter
 rs_570952151

1 SubmittersRCV001218839
NM_024589.3(ROGDI):c.201-1G>C SNV
Germline		 Chr16:4801322 Likely pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter
 rs_1473111275

1 SubmittersRCV001234864
NM_024589.3(ROGDI):c.402C>A (p.Tyr134Ter) SNV
Germline		 Chr16:4799716 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter
 rs_919033318

1 SubmittersRCV001380958
NM_024589.3(ROGDI):c.103C>T (p.Gln35Ter) SNV
Germline		 Chr16:4802396 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter
 rs_2082742684

1 SubmittersRCV001931038
NM_024589.3(ROGDI):c.613C>T (p.Gln205Ter) SNV
Germline		 Chr16:4798103 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter
 rs_780059442

1 SubmittersRCV001960730
NM_024589.3(ROGDI):c.250C>T (p.Gln84Ter) SNV
Germline		 Chr16:4801272 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter
 rs_2082712944

1 SubmittersRCV001941630
NM_024589.3(ROGDI):c.52G>T (p.Glu18Ter) SNV
Germline		 Chr16:4802447 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter
 rs_1221411185

1 SubmittersRCV001890161
NM_024589.3(ROGDI):c.337-2A>G SNV
Germline		 Chr16:4799783 Likely pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter
 rs_774701696

1 SubmittersRCV002001605
NM_024589.3(ROGDI):c.386G>A (p.Ser129Asn) SNV
Germline		 Chr16:4799732 Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003116277RCV003294630
NM_024589.3(ROGDI):c.208C>T (p.Gln70Ter) SNV
Germline		 Chr16:4801314 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002745401
NM_024589.3(ROGDI):c.232C>T (p.Gln78Ter) SNV
Germline		 Chr16:4801290 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002807274
NM_024589.3(ROGDI):c.169A>T (p.Lys57Ter) SNV
Germline		 Chr16:4801534 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002863069
NM_024589.3(ROGDI):c.118-2A>C SNV
Germline		 Chr16:4801587 Likely pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003646344
NM_024589.3(ROGDI):c.331C>T (p.Gln111Ter) SNV
Germline		 Chr16:4800503 Pathogenic Amelocerebrohypohidrotic syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003646772