Total 79 pathogenic variants reported for Allan-Herndon-Dudley syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro) SNV
Germline		 ChrX:74529355 Pathogenic Allan-Herndon-Dudley syndrome No Assertion Criteria Provided
 CA255946 rs_104894931

1 SubmittersRCV000012398
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) SNV
Germline		 ChrX:74521008 Pathogenic/Likely pathogenic Allan-Herndon-Dudley syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA222962 rs_104894936

5 SubmittersRCV000012400RCV000790835
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro) SNV
Germline		 ChrX:74529232 Pathogenic Allan-Herndon-Dudley syndrome
Intellectual disability		 Criteria Provided
Single Submitter
 CA255947 rs_122455132

2 SubmittersRCV000012402RCV000224792
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) SNV
Germline		 ChrX:74531414 Pathogenic Allan-Herndon-Dudley syndrome No Assertion Criteria Provided
 CA341126 rs_104894938

2 SubmittersRCV000012404
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) SNV
Germline		 ChrX:74525802 Pathogenic Allan-Herndon-Dudley syndrome No Assertion Criteria Provided
 CA341127 rs_104894939

2 SubmittersRCV000012405
NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter) SNV
Germline		 ChrX:74525844 Pathogenic Allan-Herndon-Dudley syndrome No Assertion Criteria Provided
 CA255948 rs_104894940

1 SubmittersRCV000012406
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro) SNV
Germline		 ChrX:74529295 Likely pathogenic Allan-Herndon-Dudley syndrome
Condition: not provided		 No Assertion Criteria Provided
 CA344565 rs_367543059

2 SubmittersRCV000034937RCV003325304
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter) SNV
Germline		 ChrX:74421914 Pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA272493 rs_587784386

1 SubmittersRCV000147498
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) SNV
Germline		 ChrX:74521008 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA272495 rs_104894936

1 SubmittersRCV000147499
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter) SNV
Germline		 ChrX:74524699 Pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA272486 rs_587784382

1 SubmittersRCV000147492
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) SNV
Germline		 ChrX:74524762 Pathogenic/Likely pathogenic Allan-Herndon-Dudley syndrome
Decreased activity of the pyruvate dehydrogenase complex
Spastic paraplegia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA272488 rs_587784383

5 SubmittersRCV000147493RCV000415270RCV001383614RCV001267932
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) SNV
Germline		 ChrX:74525834 Pathogenic/Likely pathogenic Allan-Herndon-Dudley syndrome
Condition: not provided
Inborn genetic diseases
Spastic paraplegia
Hereditary spastic paraplegia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA272490 rs_587784384

7 SubmittersRCV000147494RCV000224827RCV000624288RCV001226584RCV001847780
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) SNV
Germline		 ChrX:74524373 Conflicting classifications of pathogenicity Condition: not provided
Allan-Herndon-Dudley syndrome
Spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA234941 rs_727504155

4 SubmittersRCV000153954RCV001375983RCV003588581
NM_006517.5(SLC16A2):c.604G>A (p.Gly202Arg) SNV
Germline		 ChrX:74524387 Conflicting classifications of pathogenicity Condition: not provided
Allan-Herndon-Dudley syndrome		 Criteria Provided
Conflicting Classifications
 CA243398 rs_794727509

2 SubmittersRCV000177261RCV004700539
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) SNV
Germline		 ChrX:74531401 Conflicting classifications of pathogenicity Condition: not provided
Allan-Herndon-Dudley syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA246723 rs_794727799

3 SubmittersRCV000179466RCV002247595RCV002408780
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter) SNV
Germline		 ChrX:74524723 Pathogenic Allan-Herndon-Dudley syndrome
Condition: not provided
Spastic paraplegia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277146 rs_766773277

4 SubmittersRCV000193469RCV000760473RCV001853109
NM_006517.5(SLC16A2):c.1026+1G>T SNV
Germline		 ChrX:74524810 Pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA413657808 rs_1555989729

1 SubmittersRCV000501675
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter) SNV
Germline		 ChrX:74520993 Pathogenic Condition: not provided
Allan-Herndon-Dudley syndrome		 Criteria Provided
Single Submitter
 CA413656509 rs_1555989364

2 SubmittersRCV000595183RCV000984914
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser) SNV
Unknown		 ChrX:74529432 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA413658638 rs_1363308293

1 SubmittersRCV000677736
NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter) SNV
Germline		 ChrX:74421791 Pathogenic Condition: not provided
Allan-Herndon-Dudley syndrome
Spastic paraplegia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413655889 rs_1569281085

3 SubmittersRCV000760533RCV003223412RCV003588676
NM_006517.5(SLC16A2):c.148G>A (p.Glu50Lys) SNV
Germline		 ChrX:74421785 Conflicting classifications of pathogenicity Spastic paraplegia
Condition: not provided
Inborn genetic diseases
not specified
Allan-Herndon-Dudley syndrome		 Criteria Provided
Conflicting Classifications
 CA10454378 rs_756065515

6 SubmittersRCV000818285RCV003437438RCV004028950RCV004586946RCV005392448
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg) SNV
Germline		 ChrX:74520998 Pathogenic Allan-Herndon-Dudley syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413656522 rs_1602140936

3 SubmittersRCV000824884RCV005902111
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val) SNV
Unknown		 ChrX:74529304 Pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA413658353 rs_1602143383

1 SubmittersRCV000990870
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter) SNV
Germline		 ChrX:74521070 Pathogenic Allan-Herndon-Dudley syndrome
Spastic paraplegia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413656685 rs_1930398120

3 SubmittersRCV002290649RCV001232100
NM_006517.5(SLC16A2):c.435G>A (p.Trp145Ter) SNV
Unknown		 ChrX:74520994 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA413656512 rs_1930396705

1 SubmittersRCV001262483
NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter) SNV
Germline		 ChrX:74524755 Pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA413657687 rs_1930463806

1 SubmittersRCV001333549
NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter) SNV
Germline		 ChrX:74525793 Pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA413657927 rs_1380635081

1 SubmittersRCV001333548
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter) SNV
Germline		 ChrX:74524623 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA413657405 rs_2147870607

1 SubmittersRCV001553548
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn) SNV
Germline		 ChrX:74529312 Likely pathogenic Condition: not provided
Spastic paraplegia
Allan-Herndon-Dudley syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413658368 rs_2147871878

3 SubmittersRCV001562995RCV001882658RCV002510594
NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu) SNV
Germline		 ChrX:74529246 Conflicting classifications of pathogenicity Condition: not provided
Spastic paraplegia
Inborn genetic diseases
Allan-Herndon-Dudley syndrome		 Criteria Provided
Conflicting Classifications
 CA10454507 rs_773263889

4 SubmittersRCV001568128RCV002569042RCV003346618RCV005395080
NM_006517.5(SLC16A2):c.431-2A>G SNV
Germline		 ChrX:74520988 Pathogenic Allan-Herndon-Dudley syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Single Submitter
 CA413656498 rs_2147869490

3 SubmittersRCV001849898RCV005922810
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu) SNV
Germline		 ChrX:74529430 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA413658636 rs_2147871919

1 SubmittersRCV002249167
NM_006517.5(SLC16A2):c.640C>T (p.Gln214Ter) SNV
Germline		 ChrX:74524423 Pathogenic Allan-Herndon-Dudley syndrome
Spastic paraplegia		 Criteria Provided
Single Submitter
 CA413656970 rs_2519806555

2 SubmittersRCV002293285RCV003588802
NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr) SNV
Germline		 ChrX:74529432 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA413658637 rs_1363308293

1 SubmittersRCV002471608
NM_006517.5(SLC16A2):c.364G>A (p.Gly122Arg) SNV
Germline		 ChrX:74422001 Likely pathogenic Allan-Herndon-Dudley syndrome No Assertion Criteria Provided
 CA413656333 rs_2519759580

1 SubmittersRCV003388279
NM_006517.5(SLC16A2):c.232G>T (p.Glu78Ter) SNV
Germline		 ChrX:74421869 Pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA413656056 rs_2519759427

1 SubmittersRCV003448930
NM_006517.5(SLC16A2):c.25G>T (p.Glu9Ter) SNV
Germline		 ChrX:74421662 Pathogenic Spastic paraplegia
Allan-Herndon-Dudley syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413655605 rs_933036653

2 SubmittersRCV003589843RCV003994565
NM_006517.5(SLC16A2):c.629C>A (p.Ser210Tyr) SNV
Unknown		 ChrX:74524412 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 CA413656946 rs_746493490

1 SubmittersRCV003985177
NM_006517.5(SLC16A2):c.454G>T (p.Gly152Cys) SNV
Germline		 ChrX:74521013 Likely pathogenic Allan-Herndon-Dudley syndrome No Assertion Criteria Provided

1 SubmittersRCV004719103
NM_006517.5(SLC16A2):c.1400-1G>C SNV
Germline		 ChrX:74531332 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter
 rs_2519810008

1 SubmittersRCV004594788
NM_006517.5(SLC16A2):c.394G>T (p.Glu132Ter) SNV
Germline		 ChrX:74422031 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004691692
NM_006517.5(SLC16A2):c.1026+1G>A SNV
Germline		 ChrX:74524810 Pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005638728
NM_006517.5(SLC16A2):c.118G>T (p.Glu40Ter) SNV
Germline		 ChrX:74421755 Pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005884493
NM_006517.5(SLC16A2):c.971G>A (p.Trp324Ter) SNV
Germline		 ChrX:74524754 Pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006257567
NM_006517.5(SLC16A2):c.1384G>T (p.Gly462Trp) SNV
Germline		 ChrX:74529426 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006257568
NM_006517.5(SLC16A2):c.1170+2T>A SNV
Germline		 ChrX:74525895 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006449407
NM_006517.5(SLC16A2):c.1170+1G>A SNV
Germline		 ChrX:74525894 Pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006605145
NM_006517.5(SLC16A2):c.1026G>C (p.Leu342=) SNV
Germline		 ChrX:74524809 Likely pathogenic Allan-Herndon-Dudley syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006605976