Total 72 pathogenic variants reported for Adenine phosphoribosyltransferase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000485.3(APRT):c.407T>C (p.Met136Thr) SNV
Germline		 Chr16:88809834 Pathogenic APRT deficiency, Japanese type
Adenine phosphoribosyltransferase deficiency		 Criteria Provided
Single Submitter
 CA128035 rs_28999113

4 SubmittersRCV000019958RCV000033908
NM_000485.3(APRT):c.194A>T (p.Asp65Val) SNV
Germline		 Chr16:88810550 Pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA343879 rs_104894506

4 SubmittersRCV000033903
NM_000485.3(APRT):c.294G>A (p.Trp98Ter) SNV
Germline		 Chr16:88810450 Pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA343882 rs_104894507

5 SubmittersRCV000033905
NM_000485.3(APRT):c.329T>C (p.Leu110Pro) SNV
Germline		 Chr16:88810141 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA258148 rs_104894508

2 SubmittersRCV000019962
NM_000485.3(APRT):c.542G>C (p.Ter181Ser) SNV
Germline		 Chr16:88809699 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA258149 rs_387906584

2 SubmittersRCV000019964
NM_000485.3(APRT):c.448G>T (p.Val150Phe) SNV
Germline		 Chr16:88809793 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA343887 rs_281860266

2 SubmittersRCV000033909
NM_000485.3(APRT):c.216C>A (p.Gly72=) SNV
Germline		 Chr16:88810528 Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8234510 rs_377050219

2 SubmittersRCV000349759RCV002056542
NM_000485.3(APRT):c.411C>T (p.Asn137=) SNV
Germline		 Chr16:88809830 Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8234372 rs_142472789

3 SubmittersRCV001115915RCV002069864
NM_000485.3(APRT):c.364A>C (p.Arg122=) SNV
Germline		 Chr16:88810106 Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8234439 rs_35095508

3 SubmittersRCV001115917RCV002556285
NM_000485.3(APRT):c.346G>A (p.Ala116Thr) SNV
Germline		 Chr16:88810124 Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8234446 rs_201944035

2 SubmittersRCV001115918RCV001321688
NM_000485.3(APRT):c.276G>A (p.Leu92=) SNV
Germline		 Chr16:88810468 Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8234487 rs_372253865

2 SubmittersRCV001115919RCV002069865
NM_000485.3(APRT):c.543A>T (p.Ter181Cys) SNV
Germline		 Chr16:88809698 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397086027 rs_1909032484

1 SubmittersRCV001269418
NM_000485.3(APRT):c.541T>C (p.Ter181Arg) SNV
Germline		 Chr16:88809700 Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter
 CA8234339 rs_758634272

2 SubmittersRCV001269417
NM_000485.3(APRT):c.532C>T (p.Gln178Ter) SNV
Germline		 Chr16:88809709 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397086105 rs_1165408563

1 SubmittersRCV001269416
NM_000485.3(APRT):c.526C>T (p.Leu176Phe) SNV
Germline		 Chr16:88809715 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397086137 rs_1909033869

1 SubmittersRCV001269414
NM_000485.3(APRT):c.524C>T (p.Ser175Phe) SNV
Germline		 Chr16:88809717 Likely pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397086140 rs_1186881962

1 SubmittersRCV001269463
NM_000485.3(APRT):c.491G>A (p.Gly164Asp) SNV
Germline		 Chr16:88809750 Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency
APRT-related disorder		 No Assertion Criteria Provided
 CA8234352 rs_768425517

2 SubmittersRCV001269461RCV004758154
NM_000485.3(APRT):c.457T>C (p.Cys153Arg) SNV
Germline		 Chr16:88809784 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397087104 rs_764321075

1 SubmittersRCV001269458
NM_000485.3(APRT):c.439C>T (p.Gln147Ter) SNV
Germline		 Chr16:88809802 Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter
 CA8234364 rs_745872435

2 SubmittersRCV001269457
NM_000485.3(APRT):c.428T>C (p.Leu143Pro) SNV
Germline		 Chr16:88809813 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397087224 rs_1909040577

1 SubmittersRCV001269456
NM_000485.3(APRT):c.400+3A>T SNV
Germline		 Chr16:88810067 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA1139664904 rs_1909055310

1 SubmittersRCV001269454
NM_000485.3(APRT):c.400+1G>T SNV
Germline		 Chr16:88810069 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397087528 rs_1317695590

1 SubmittersRCV001269453
NM_000485.3(APRT):c.398G>A (p.Gly133Asp) SNV
Germline		 Chr16:88810072 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397087556 rs_1909055807

1 SubmittersRCV001269452
NM_000485.3(APRT):c.389T>C (p.Leu130Pro) SNV
Germline		 Chr16:88810081 Likely pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397087624 rs_1909056519

1 SubmittersRCV001269455
NM_000485.3(APRT):c.380A>G (p.Asp127Gly) SNV
Germline		 Chr16:88810090 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397087709 rs_1909057323

1 SubmittersRCV001269451
NM_000485.3(APRT):c.371T>G (p.Val124Gly) SNV
Germline		 Chr16:88810099 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397087800 rs_1909057938

1 SubmittersRCV001269450
NM_000485.3(APRT):c.359G>T (p.Gly120Val) SNV
Germline		 Chr16:88810111 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397087872 rs_776948275

1 SubmittersRCV001269449
NM_000485.3(APRT):c.334A>T (p.Ile112Phe) SNV
Germline		 Chr16:88810136 Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8234451 rs_767177754

3 SubmittersRCV001269447RCV003558782
NM_000485.3(APRT):c.311A>G (p.Glu104Gly) SNV
Germline		 Chr16:88810433 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397088195 rs_1909078308

1 SubmittersRCV001269446
NM_000485.3(APRT):c.264G>T (p.Lys88Asn) SNV
Germline		 Chr16:88810480 Pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter
 CA397088446 rs_138781159

1 SubmittersRCV001269442
NM_000485.3(APRT):c.259C>T (p.Arg87Ter) SNV
Germline		 Chr16:88810485 Pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA8234496 rs_3169258

2 SubmittersRCV001269441
NM_000485.3(APRT):c.227C>T (p.Ala76Val) SNV
Germline		 Chr16:88810517 Pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter
 CA397088665 rs_1909088511

1 SubmittersRCV001269439
NM_000485.3(APRT):c.200G>A (p.Arg67Gln) SNV
Germline		 Chr16:88810544 Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA8234511 rs_762509151

3 SubmittersRCV001269438
NM_000485.3(APRT):c.199C>T (p.Arg67Ter) SNV
Germline		 Chr16:88810545 Pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter
 CA8234512 rs_369681854

2 SubmittersRCV001269437
NM_000485.3(APRT):c.188G>A (p.Gly63Asp) SNV
Germline		 Chr16:88810556 Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter
 CA397088940 rs_1909091672

2 SubmittersRCV001269436
NM_000485.3(APRT):c.188-3C>G SNV
Germline		 Chr16:88810559 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA1139664909 rs_766646831

1 SubmittersRCV001269434
NM_000485.3(APRT):c.160C>G (p.His54Asp) SNV
Germline		 Chr16:88811577 Pathogenic/Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA8234554 rs_752977102

2 SubmittersRCV001269431
NM_000485.3(APRT):c.119G>C (p.Arg40Pro) SNV
Germline		 Chr16:88811618 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397090335 rs_1909144433

1 SubmittersRCV001269430
NM_000485.3(APRT):c.98T>C (p.Leu33Pro) SNV
Germline		 Chr16:88811639 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397090512 rs_1909145695

1 SubmittersRCV001269429
NM_000485.3(APRT):c.84C>A (p.Asp28Glu) SNV
Germline		 Chr16:88811653 Likely pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397090601 rs_1344826245

1 SubmittersRCV001269428
NM_000485.3(APRT):c.82G>C (p.Asp28His) SNV
Germline		 Chr16:88811655 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA397090614 rs_1909147057

1 SubmittersRCV001269427
NM_000485.3(APRT):c.81-2A>G SNV
Germline		 Chr16:88811658 Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter
 CA397090630 rs_751779314

2 SubmittersRCV001269426
NM_000485.3(APRT):c.81-3C>G SNV
Germline		 Chr16:88811659 Pathogenic/Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA8234575 rs_761838152

3 SubmittersRCV001269425
NM_000485.3(APRT):c.58C>T (p.Pro20Ser) SNV
Germline		 Chr16:88811842 Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter
 CA397091296 rs_1909160707

1 SubmittersRCV001269424
NM_000485.3(APRT):c.3G>A (p.Met1Ile) SNV
Germline		 Chr16:88811897 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided
 CA286428291 rs_918734933

1 SubmittersRCV001269422
NM_000485.3(APRT):c.2T>C (p.Met1Thr) SNV
Germline		 Chr16:88811898 Pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter
 CA397091686 rs_1180937573

1 SubmittersRCV001269421
NM_000485.3(APRT):c.1A>G (p.Met1Val) SNV
Germline		 Chr16:88811899 Pathogenic Adenine phosphoribosyltransferase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA286428296 rs_930107496

3 SubmittersRCV001269420RCV001384758
NM_000485.3(APRT):c.13G>T (p.Glu5Ter) SNV
Germline		 Chr16:88811887 Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter
 CA397091587 rs_1244097151

1 SubmittersRCV001785957
NM_000485.3(APRT):c.3G>C (p.Met1Ile) SNV
Germline		 Chr16:88811897 Pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter
 rs_918734933

1 SubmittersRCV005624649
NM_000485.3(APRT):c.482C>A (p.Ser161Ter) SNV
Germline		 Chr16:88809759 Pathogenic Adenine phosphoribosyltransferase deficiency No Assertion Criteria Provided

1 SubmittersRCV004759724
NM_000485.3(APRT):c.293G>A (p.Trp98Ter) SNV
Germline		 Chr16:88810451 Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005017867
NM_000485.3(APRT):c.187+2C>A SNV
Germline		 Chr16:88811548 Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005010027
NM_000485.3(APRT):c.397G>C (p.Gly133Arg) SNV
Unknown		 Chr16:88810073 Likely pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005255959