| - GRCh37:
- Chr16:88876464
- GRCh38:
- Chr16:88810056
| APRT | | Adenine phosphoribosyltransferase deficiency, not provided | Likely benign
(Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876189
- GRCh38:
- Chr16:88809781
| APRT | V154M | not provided, Adenine phosphoribosyltransferase deficiency | Uncertain significance
(Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88877970
- GRCh38:
- Chr16:88811562
| APRT | D59N | not provided, Adenine phosphoribosyltransferase deficiency | Uncertain significance
(Jan 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876502
- GRCh38:
- Chr16:88810094
| APRT | V126M | not provided, Adenine phosphoribosyltransferase deficiency | Uncertain significance
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88878295
- GRCh38:
- Chr16:88811887
| APRT | E5* | Adenine phosphoribosyltransferase deficiency | Likely pathogenic
(Apr 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876493
- GRCh38:
- Chr16:88810085
| APRT | | not provided, Adenine phosphoribosyltransferase deficiency | Likely benign
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876125
- GRCh38:
- Chr16:88809717
| APRT | S175F | Adenine phosphoribosyltransferase deficiency | Likely pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876139
- GRCh38:
- Chr16:88809731
| APRT | V171fs | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876158
- GRCh38:
- Chr16:88809750
| APRT | G164D | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876175-88876177
- GRCh38:
- Chr16:88809767-88809769
| APRT | E158del | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876187-88876188
- GRCh38:
- Chr16:88809779-88809780
| APRT | V154fs | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876192
- GRCh38:
- Chr16:88809784
| APRT | C153R | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876210
- GRCh38:
- Chr16:88809802
| APRT | Q147* | Adenine phosphoribosyltransferase deficiency | Likely pathogenic
(Jul 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876221
- GRCh38:
- Chr16:88809813
| APRT | L143P | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876489
- GRCh38:
- Chr16:88810081
| APRT | L130P | Adenine phosphoribosyltransferase deficiency | Likely pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876475
- GRCh38:
- Chr16:88810067
| APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876477
- GRCh38:
- Chr16:88810069
| APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876480
- GRCh38:
- Chr16:88810072
| APRT | G133D | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876498
- GRCh38:
- Chr16:88810090
| APRT | D127G | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876507
- GRCh38:
- Chr16:88810099
| APRT | V124G | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876519
- GRCh38:
- Chr16:88810111
| APRT | G120V | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876526
- GRCh38:
- Chr16:88810118
| APRT | E118Q | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876544
- GRCh38:
- Chr16:88810136
| APRT | I112F | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876841
- GRCh38:
- Chr16:88810433
| APRT | E104G | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876862-88876863
- GRCh38:
- Chr16:88810454-88810455
| APRT | L97fs | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876865-88876866
- GRCh38:
- Chr16:88810457-88810458
| APRT | T96fs | not provided | Pathogenic
(Jul 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876866-88876872
- GRCh38:
- Chr16:88810458-88810464
| APRT | G94fs | Adenine phosphoribosyltransferase deficiency | Likely pathogenic
(Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876888
- GRCh38:
- Chr16:88810480
| APRT | K88N | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876893
- GRCh38:
- Chr16:88810485
| APRT | R87* | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Jul 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876902
- GRCh38:
- Chr16:88810494
| APRT | V84M | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876925
- GRCh38:
- Chr16:88810517
| APRT | A76V | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876952
- GRCh38:
- Chr16:88810544
| APRT | R67Q | Adenine phosphoribosyltransferase deficiency | Likely pathogenic
(Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876953
- GRCh38:
- Chr16:88810545
| APRT | R67* | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876964
- GRCh38:
- Chr16:88810556
| APRT | G63D | Adenine phosphoribosyltransferase deficiency | Likely pathogenic
(Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876856-88877109
- GRCh38:
- Chr16:88810448-88810701
| APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876967
- GRCh38:
- Chr16:88810559
| APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88877936-88877961
- GRCh38:
- Chr16:88811528-88811553
| APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88877964-88877965
- GRCh38:
- Chr16:88811556-88811557
| APRT | I61fs | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88877985
- GRCh38:
- Chr16:88811577
| APRT | H54D | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88878026
- GRCh38:
- Chr16:88811618
| APRT | R40P | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88878047
- GRCh38:
- Chr16:88811639
| APRT | L33P | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88878061
- GRCh38:
- Chr16:88811653
| APRT | D28E | Adenine phosphoribosyltransferase deficiency | Likely pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88878063
- GRCh38:
- Chr16:88811655
| APRT | D28H | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88878066
- GRCh38:
- Chr16:88811658
| APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88878067
- GRCh38:
- Chr16:88811659
| APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88878250
- GRCh38:
- Chr16:88811842
| APRT | P20S | Adenine phosphoribosyltransferase deficiency | Likely pathogenic
(Sep 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88878284-88878285
- GRCh38:
- Chr16:88811876-88811877
| APRT | V9fs | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88878305
- GRCh38:
- Chr16:88811897
| APRT | M1I | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88878306
- GRCh38:
- Chr16:88811898
| APRT | M1T | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88878307
- GRCh38:
- Chr16:88811899
| APRT | M1V | Adenine phosphoribosyltransferase deficiency, not provided | Pathogenic
(Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| | APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876106
- GRCh38:
- Chr16:88809698
| APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876108
- GRCh38:
- Chr16:88809700
| APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876117
- GRCh38:
- Chr16:88809709
| APRT | Q178* | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876119-88876123
- GRCh38:
- Chr16:88809711-88809715
| APRT | L176fs | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876123
- GRCh38:
- Chr16:88809715
| APRT | L176F | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876125-88876127
- GRCh38:
- Chr16:88809717-88809719
| APRT | S175del | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876216
- GRCh38:
- Chr16:88809808
| APRT | R145S | Adenine phosphoribosyltransferase deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88875896
- GRCh38:
- Chr16:88809488
| APRT | | Adenine phosphoribosyltransferase deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88880635
- GRCh38:
- Chr16:88814227
| APRT, GALNS | | Adenine phosphoribosyltransferase deficiency, Mucopolysaccharidosis, MPS-IV-A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876886
- GRCh38:
- Chr16:88810478
| APRT | R89Q | Adenine phosphoribosyltransferase deficiency, not provided | Benign/Likely benign
(Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876876
- GRCh38:
- Chr16:88810468
| APRT | | not provided, Adenine phosphoribosyltransferase deficiency | Conflicting interpretations of pathogenicity
(Feb 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88876532
- GRCh38:
- Chr16:88810124
| APRT | A116T | not provided, Adenine phosphoribosyltransferase deficiency | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88876514
- GRCh38:
- Chr16:88810106
| APRT | | not provided, Adenine phosphoribosyltransferase deficiency | Conflicting interpretations of pathogenicity
(Jul 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88876263
- GRCh38:
- Chr16:88809855
| APRT | | Adenine phosphoribosyltransferase deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876238
- GRCh38:
- Chr16:88809830
| APRT | | not provided, Adenine phosphoribosyltransferase deficiency | Conflicting interpretations of pathogenicity
(Aug 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88876167
- GRCh38:
- Chr16:88809759
| APRT | S161L | Adenine phosphoribosyltransferase deficiency, not provided | Uncertain significance
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876190
- GRCh38:
- Chr16:88809782
| APRT | | Adenine phosphoribosyltransferase deficiency, not provided | Likely benign
(Dec 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88878357
- GRCh38:
- Chr16:88811949
| APRT, GALNS | | not provided, Adenine phosphoribosyltransferase deficiency, Morquio syndrome
| Benign/Likely benign
(Jul 9, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88880623
- GRCh38:
- Chr16:88814215
| APRT, GALNS | | Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A, not provided,
Adenine phosphoribosyltransferase deficiency | Benign/Likely benign
(Mar 24, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88880551
- GRCh38:
- Chr16:88814143
| APRT, GALNS | | Adenine phosphoribosyltransferase deficiency, Mucopolysaccharidosis, MPS-IV-A, not provided,
Morquio syndrome | Benign/Likely benign
(May 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88880480
- GRCh38:
- Chr16:88814072
| APRT, GALNS | | Adenine phosphoribosyltransferase deficiency, not provided, Mucopolysaccharidosis, MPS-IV-A,
Morquio syndrome | Benign
(May 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88880323
- GRCh38:
- Chr16:88813915
| APRT, GALNS | | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome, Adenine phosphoribosyltransferase deficiency
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88880236
- GRCh38:
- Chr16:88813828
| APRT, GALNS | | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome, Adenine phosphoribosyltransferase deficiency
| Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88880195
- GRCh38:
- Chr16:88813787
| APRT, GALNS | | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome, Adenine phosphoribosyltransferase deficiency
| Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88880146
- GRCh38:
- Chr16:88813738
| APRT, GALNS | | Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome, Adenine phosphoribosyltransferase deficiency
| Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88878055
- GRCh38:
- Chr16:88811647
| APRT, GALNS | | Morquio syndrome, not provided, Adenine phosphoribosyltransferase deficiency
| Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88878048
- GRCh38:
- Chr16:88811640
| APRT, GALNS | | Morquio syndrome, not provided, Adenine phosphoribosyltransferase deficiency
| Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88877983
- GRCh38:
- Chr16:88811575
| APRT | | not provided, Adenine phosphoribosyltransferase deficiency | Benign/Likely benign
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876936
- GRCh38:
- Chr16:88810528
| APRT | | not provided, Adenine phosphoribosyltransferase deficiency | Conflicting interpretations of pathogenicity
(May 25, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88876836
- GRCh38:
- Chr16:88810428
| APRT | G106R | Adenine phosphoribosyltransferase deficiency | Uncertain significance
(Jul 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876103
- GRCh38:
- Chr16:88809695
| APRT, GALNS | | Morquio syndrome, not provided, Adenine phosphoribosyltransferase deficiency
| Benign/Likely benign
(Jul 9, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876059
- GRCh38:
- Chr16:88809651
| APRT, GALNS | | Morquio syndrome, not provided, Adenine phosphoribosyltransferase deficiency
| Likely benign
(Oct 19, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876023
- GRCh38:
- Chr16:88809615
| APRT | | Adenine phosphoribosyltransferase deficiency | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88875984
- GRCh38:
- Chr16:88809576
| APRT | | Adenine phosphoribosyltransferase deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88875954
- GRCh38:
- Chr16:88809546
| APRT | | Adenine phosphoribosyltransferase deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88875928
- GRCh38:
- Chr16:88809520
| APRT | | Adenine phosphoribosyltransferase deficiency | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88875928
- GRCh38:
- Chr16:88809520
| APRT, GALNS | | Morquio syndrome, not provided, Adenine phosphoribosyltransferase deficiency
| Benign
(Jul 9, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88875924
- GRCh38:
- Chr16:88809516
| APRT, GALNS | | Morquio syndrome, Adenine phosphoribosyltransferase deficiency | Conflicting interpretations of pathogenicity
(Jun 14, 2016) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88880811
- GRCh38:
- Chr16:88814403
| APRT, GALNS | | Morquio syndrome, not specified, not provided,
Mucopolysaccharidosis, MPS-IV-A, Adenine phosphoribosyltransferase deficiency | Benign
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876475-88876476
- GRCh38:
- Chr16:88810067-88810068
| APRT | | not provided | Pathogenic
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88874566
- GRCh38:
- Chr16:88808158
| CDT1 | | Adenine phosphoribosyltransferase deficiency, not specified, not provided
| Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876201
- GRCh38:
- Chr16:88809793
| APRT | V150F | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876107
- GRCh38:
- Chr16:88809699
| APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876856-88877109
- GRCh38:
- Chr16:88810448-88810701
| APRT | | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Jan 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876549
- GRCh38:
- Chr16:88810141
| APRT | L110P | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876890-88876891
- GRCh38:
- Chr16:88810482-88810483
| APRT | K88fs | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88876858
- GRCh38:
- Chr16:88810450
| APRT | W98* | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88876958
- GRCh38:
- Chr16:88810550
| APRT | D65V | Adenine phosphoribosyltransferase deficiency | Pathogenic
(Sep 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88876242
- GRCh38:
- Chr16:88809834
| APRT | M136T | Adenine phosphoribosyltransferase deficiency, APRT deficiency, Japanese type | Pathogenic
(Sep 1, 2020) | no assertion criteria provided |