| - GRCh37:
- Chr10:73587796
- GRCh38:
- Chr10:71828039
| PSAP | R232H | Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Parkinson disease 24, autosomal dominant, susceptibility to, Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency
| Uncertain significance
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73579996
- GRCh38:
- Chr10:71820239
| PSAP | | Sphingolipid activator protein 1 deficiency | Likely pathogenic
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73579587
- GRCh38:
- Chr10:71819830
| PSAP | E359A, E361A, E362A | Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73579471
- GRCh38:
- Chr10:71819714
| PSAP | V398I, V400I, V401I | Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency, Parkinson disease 24, autosomal dominant, susceptibility to,
Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency
| Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73594236
- GRCh38:
- Chr10:71834479
| PSAP | K23E | Gaucher disease due to saposin C deficiency, Parkinson disease 24, autosomal dominant, susceptibility to, Krabbe disease due to saposin A deficiency,
Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency | Uncertain significance
(Apr 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73588831
- GRCh38:
- Chr10:71829074
| PSAP | R127C | Inborn genetic diseases, Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency,
Parkinson disease 24, autosomal dominant, susceptibility to, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Sphingolipid activator protein 1 deficiency | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73576602
- GRCh38:
- Chr10:71816845
| PSAP | | Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Combined PSAP deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73588791
- GRCh38:
- Chr10:71829034
| PSAP | S140F | Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency,
Combined PSAP deficiency | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73588787
- GRCh38:
- Chr10:71829030
| PSAP | | Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Gaucher disease due to saposin C deficiency | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73588702
- GRCh38:
- Chr10:71828945
| PSAP | P170A | Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Gaucher disease due to saposin C deficiency | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73579375
- GRCh38:
- Chr10:71819618
| PSAP | | Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Gaucher disease due to saposin C deficiency | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73576960
- GRCh38:
- Chr10:71817203
| CDH23, PSAP | | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Sphingolipid activator protein 1 deficiency,
Gaucher disease due to saposin C deficiency, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73576461
- GRCh38:
- Chr10:71816704
| PSAP | | Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Gaucher disease due to saposin C deficiency | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73579243
- GRCh38:
- Chr10:71819486
| PSAP | | Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Gaucher disease due to saposin C deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73576852
- GRCh38:
- Chr10:71817095
| PSAP | | Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Gaucher disease due to saposin C deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73576411
- GRCh38:
- Chr10:71816654
| PSAP | | Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Gaucher disease due to saposin C deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73591597
- GRCh38:
- Chr10:71831840
| PSAP | | Sphingolipid activator protein 1 deficiency, Inborn genetic diseases, Krabbe disease due to saposin A deficiency,
Combined PSAP deficiency, Gaucher disease due to saposin C deficiency | Conflicting interpretations of pathogenicity
(Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73588645
- GRCh38:
- Chr10:71828888
| PSAP | P189S | Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, not specified,
Krabbe disease due to saposin A deficiency, Combined PSAP deficiency | Conflicting interpretations of pathogenicity
(May 16, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73577108
- GRCh38:
- Chr10:71817351
| PSAP | | Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency, Combined PSAP deficiency,
Krabbe disease due to saposin A deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73576822
- GRCh38:
- Chr10:71817065
| PSAP | | Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency,
Krabbe disease due to saposin A deficiency | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73576672
- GRCh38:
- Chr10:71816915
| PSAP | | Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency,
Combined PSAP deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73576190
- GRCh38:
- Chr10:71816433
| PSAP | | Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency,
Krabbe disease due to saposin A deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73579517
- GRCh38:
- Chr10:71819760
| PSAP | | Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency, Combined PSAP deficiency,
Krabbe disease due to saposin A deficiency | Conflicting interpretations of pathogenicity
(Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73587810-73587812
- GRCh38:
- Chr10:71828053-71828055
| PSAP | K227del | Sphingolipid activator protein 1 deficiency, Metachromatic leukodystrophy, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency, Parkinson disease 24, autosomal dominant, susceptibility to, Krabbe disease due to saposin A deficiency,
Combined PSAP deficiency | Pathogenic/Likely pathogenic
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73578850
- GRCh38:
- Chr10:71819093
| PSAP | E460*, E459*, E457* | Gaucher disease due to saposin C deficiency, Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency,
Krabbe disease due to saposin A deficiency | Pathogenic
(Jun 18, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr10:73611007
- GRCh38:
- Chr10:71851250
| PSAP | | Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency, Combined PSAP deficiency,
Sphingolipid activator protein 1 deficiency | Likely benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73611000
- GRCh38:
- Chr10:71851243
| PSAP | | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73610927
- GRCh38:
- Chr10:71851170
| PSAP | | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Jul 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73594275
- GRCh38:
- Chr10:71834518
| PSAP | | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73594225
- GRCh38:
- Chr10:71834468
| PSAP | | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73594215
- GRCh38:
- Chr10:71834458
| PSAP | A30S | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
not provided, Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73594209
- GRCh38:
- Chr10:71834452
| PSAP | W32G | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73594191
- GRCh38:
- Chr10:71834434
| PSAP | T38S | Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Aug 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73594120
- GRCh38:
- Chr10:71834363
| PSAP | | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73591663
- GRCh38:
- Chr10:71831906
| PSAP | | not provided, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73591648
- GRCh38:
- Chr10:71831891
| PSAP | | Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, not provided,
Krabbe disease due to saposin A deficiency, Combined PSAP deficiency | Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73591625
- GRCh38:
- Chr10:71831868
| PSAP | M76K | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Oct 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73591020
- GRCh38:
- Chr10:71831263
| PSAP | | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73590922
- GRCh38:
- Chr10:71831165
| PSAP | | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73588830
- GRCh38:
- Chr10:71829073
| PSAP | R127H | Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency, Combined PSAP deficiency,
Sphingolipid activator protein 1 deficiency | Uncertain significance
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73588653
- GRCh38:
- Chr10:71828896
| PSAP | R186H | Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency, Combined PSAP deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73588640
- GRCh38:
- Chr10:71828883
| PSAP | Q190H | Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency,
Gaucher disease due to saposin C deficiency, Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency,
Krabbe disease due to saposin A deficiency, Parkinson disease 24, autosomal dominant, susceptibility to, not provided,
Sphingolipid activator protein 1 deficiency | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73587924
- GRCh38:
- Chr10:71828167
| PSAP | | Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73587777
- GRCh38:
- Chr10:71828020
| PSAP | | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73581744
- GRCh38:
- Chr10:71821987
| PSAP | | Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73580091
- GRCh38:
- Chr10:71820334
| PSAP | K307R, K304R, K306R | Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Uncertain significance
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73580079
- GRCh38:
- Chr10:71820322
| PSAP | P308L, P311L, P310L | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73580002
- GRCh38:
- Chr10:71820245
| PSAP | T334S, T337S, T336S | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Feb 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73579651
- GRCh38:
- Chr10:71819894
| PSAP | I341V, I338V, I340V | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73579607
- GRCh38:
- Chr10:71819850
| PSAP | | Atypical Gaucher Disease, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Gaucher disease due to saposin C deficiency, Galactosylceramide beta-galactosidase deficiency, Metachromatic leukodystrophy,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73579575
- GRCh38:
- Chr10:71819818
| PSAP | T363M, T366M, T365M | Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73579491
- GRCh38:
- Chr10:71819734
| PSAP | T394M, T391M, T393M | Inborn genetic diseases, not provided, Krabbe disease due to saposin A deficiency,
Combined PSAP deficiency, Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73579311
- GRCh38:
- Chr10:71819554
| PSAP | R421C, R424C, R423C | Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73579294
- GRCh38:
- Chr10:71819537
| PSAP | | Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73578485
- GRCh38:
- Chr10:71818728
| PSAP | | Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73578461
- GRCh38:
- Chr10:71818704
| PSAP | | Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency,
not provided, Sphingolipid activator protein 1 deficiency | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73578457
- GRCh38:
- Chr10:71818700
| PSAP | H486Y, H489Y, H488Y | Inborn genetic diseases, Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency,
Krabbe disease due to saposin A deficiency, Combined PSAP deficiency | Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73578437
- GRCh38:
- Chr10:71818680
| PSAP | | Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency,
Combined PSAP deficiency | Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73577189
- GRCh38:
- Chr10:71817432
| PSAP | | Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency, Combined PSAP deficiency,
Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73577125
- GRCh38:
- Chr10:71817368
| PSAP | | Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency,
Combined PSAP deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73577085
- GRCh38:
- Chr10:71817328
| PSAP | | Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency,
Combined PSAP deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73577076
- GRCh38:
- Chr10:71817319
| PSAP | | not provided, Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency,
Krabbe disease due to saposin A deficiency, Combined PSAP deficiency | Conflicting interpretations of pathogenicity
(Jul 9, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73576922
- GRCh38:
- Chr10:71817165
| PSAP | | Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency,
Combined PSAP deficiency | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73576624
- GRCh38:
- Chr10:71816867
| PSAP | | Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency,
Combined PSAP deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73576423
- GRCh38:
- Chr10:71816666
| PSAP | | not provided, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency | Benign
(May 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73576339
- GRCh38:
- Chr10:71816582
| PSAP | | Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency, Combined PSAP deficiency,
Sphingolipid activator protein 1 deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73576307
- GRCh38:
- Chr10:71816550
| CDH23, PSAP | | Nonsyndromic Hearing Loss, Recessive, Combined PSAP deficiency, not provided,
Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency, Retinitis pigmentosa-deafness syndrome,
Sphingolipid activator protein 1 deficiency | Benign/Likely benign
(May 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73576263
- GRCh38:
- Chr10:71816506
| PSAP | | Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73575469
- GRCh38:
- Chr10:71815712
| CDH23, PSAP | | Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency,
Sphingolipid activator protein 1 deficiency, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D,
Nonsyndromic Hearing Loss, Recessive, Retinitis pigmentosa-deafness syndrome | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73575465
- GRCh38:
- Chr10:71815708
| CDH23, PSAP | | Krabbe disease due to saposin A deficiency, Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency,
Combined PSAP deficiency, Retinitis pigmentosa-deafness syndrome, Autosomal recessive nonsyndromic hearing loss 12,
Usher syndrome type 1D, Nonsyndromic Hearing Loss, Recessive, CDH23-Related Disorders
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73578839
- GRCh38:
- Chr10:71819082
| PSAP | | not specified, not provided, Sphingolipid activator protein 1 deficiency,
Gaucher disease due to saposin C deficiency, Combined PSAP deficiency, Krabbe disease due to saposin A deficiency
| Benign/Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73579217
- GRCh38:
- Chr10:71819460
| CDH23, PSAP | | Atypical Gaucher Disease, Nonsyndromic Hearing Loss, Recessive, not specified,
not provided, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Gaucher disease due to saposin C deficiency, Retinitis pigmentosa-deafness syndrome, Sphingolipid activator protein 1 deficiency,
Galactosylceramide beta-galactosidase deficiency, Metachromatic leukodystrophy ...see more | Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73610982
- GRCh38:
- Chr10:71851225
| PSAP | | not specified, not provided, Krabbe disease due to saposin A deficiency,
Combined PSAP deficiency, Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73611006
- GRCh38:
- Chr10:71851249
| PSAP | | not specified, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency,
Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73610988
- GRCh38:
- Chr10:71851231
| PSAP | | not specified, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency,
Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency | Benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73578882
- GRCh38:
- Chr10:71819125
| CDH23, PSAP | | CDH23-Related Disorders, Atypical Gaucher Disease, not specified,
not provided, Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency,
Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Galactosylceramide beta-galactosidase deficiency,
Metachromatic leukodystrophy | Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73579617
- GRCh38:
- Chr10:71819860
| PSAP | L349P, L352P, L351P | Metachromatic leukodystrophy | Likely pathogenic
(Jun 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73579284
- GRCh38:
- Chr10:71819527
| PSAP | Q430*, Q433*, Q432* | Gaucher disease due to saposin C deficiency | Pathogenic
(Jul 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr10:73579519
- GRCh38:
- Chr10:71819762
| PSAP | C382G, C385G, C384G | Gaucher disease due to saposin C deficiency | Pathogenic
(Jul 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr10:73610978
- GRCh38:
- Chr10:71851221
| PSAP | M1L | Sphingolipid activator protein 1 deficiency | Pathogenic
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73579518
- GRCh38:
- Chr10:71819761
| PSAP | C385F, C382F, C384F | Gaucher disease due to saposin C deficiency | Pathogenic
(Jun 17, 1991) | no assertion criteria provided |