Total 37 pathogenic variants reported for Krabbe disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002778.4(PSAP):c.-28A>C SNV
Germline		 Chr10:71851249 Conflicting classifications of pathogenicity not specified
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency		 Criteria Provided
Conflicting Classifications
 CA5547957 rs_375720661

2 SubmittersRCV000245942RCV000266404RCV000265215RCV000320357RCV000360960
NM_002778.4(PSAP):c.*122C>G SNV
Germline		 Chr10:71817319 Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10628841 rs_113284884

2 SubmittersRCV000298428RCV000267855RCV000360087RCV000390908RCV001556327
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) SNV
Germline		 Chr10:71818680 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency		 Criteria Provided
Conflicting Classifications
 CA5547327 rs_139178900

2 SubmittersRCV000287337RCV000336521RCV000340063RCV000904670
NM_002778.4(PSAP):c.1432-4A>G SNV
Germline		 Chr10:71818728 Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency		 Criteria Provided
Conflicting Classifications
 CA5547334 rs_775086571

2 SubmittersRCV000261764RCV000319311RCV000368118RCV000371699
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) SNV
Germline		 Chr10:71819734 Conflicting classifications of pathogenicity Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5547470 rs_202125074

7 SubmittersRCV000349589RCV000350842RCV000389048RCV001044241RCV001833438RCV002262951RCV002520627
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) SNV
Germline		 Chr10:71819850 Conflicting classifications of pathogenicity Metachromatic leukodystrophy
Combined PSAP deficiency
Galactosylceramide beta-galactosidase deficiency
Atypical Gaucher Disease
Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency		 Criteria Provided
Conflicting Classifications
 CA5547494 rs_138328594

2 SubmittersRCV000264576RCV000303307RCV000304947RCV000361976RCV000973449RCV001103919RCV001103918
NM_002778.4(PSAP):c.174+9C>T SNV
Germline		 Chr10:71834363 Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Sphingolipid activator protein 1 deficiency		 Criteria Provided
Conflicting Classifications
 CA5547878 rs_141133813

2 SubmittersRCV000307686RCV000361163RCV000362343RCV000895393
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) SNV
Germline		 Chr10:71834458 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Condition: not provided
Gaucher disease due to saposin C deficiency		 Criteria Provided
Conflicting Classifications
 CA5547906 rs_144942998

3 SubmittersRCV000345088RCV000304205RCV000972285RCV001552293RCV000393668
NM_002778.4(PSAP):c.41-13G>C SNV
Germline		 Chr10:71834518 Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency		 Criteria Provided
Conflicting Classifications
 CA5547926 rs_138010978

2 SubmittersRCV000263028RCV000275892RCV000316930RCV000371674
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) SNV
Germline		 Chr10:71818700 Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5547329 rs_749660716

3 SubmittersRCV000309664RCV000366675RCV000407182RCV000402799RCV002520626
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser) SNV
Germline		 Chr10:71820245 Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency		 Criteria Provided
Conflicting Classifications
 CA5547544 rs_749663645

2 SubmittersRCV000294309RCV000276629RCV000333973RCV000386288
NM_002778.4(PSAP):c.577-10T>C SNV
Germline		 Chr10:71828167 Conflicting classifications of pathogenicity Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Sphingolipid activator protein 1 deficiency		 Criteria Provided
Conflicting Classifications
 CA5547724 rs_185892516

2 SubmittersRCV000259735RCV000284433RCV000319640RCV000898101
NM_002778.4(PSAP):c.227T>A (p.Met76Lys) SNV
Germline		 Chr10:71831868 Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency		 Criteria Provided
Conflicting Classifications
 CA5547842 rs_377024801

2 SubmittersRCV000294452RCV000329512RCV000349338RCV000384126
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) SNV
Germline		 Chr10:71819537 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
not specified		 Criteria Provided
Conflicting Classifications
 CA5547413 rs_777227555

4 SubmittersRCV000259660RCV000299749RCV000356874RCV000932186RCV001272671RCV003330636
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met) SNV
Germline		 Chr10:71819818 Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Condition: not provided
Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Metachromatic leukodystrophy		 Criteria Provided
Conflicting Classifications
 CA5547484 rs_140066253

4 SubmittersRCV000301263RCV000335258RCV001356155RCV000390949RCV000390963RCV001828310
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val) SNV
Germline		 Chr10:71819894 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency		 Criteria Provided
Conflicting Classifications
 CA5547512 rs_544300820

1 SubmittersRCV000273320RCV000325945RCV000365539RCV000382922
NM_002778.4(PSAP):c.798G>A (p.Ala266=) SNV
Germline		 Chr10:71821987 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy		 Criteria Provided
Conflicting Classifications
 CA5547598 rs_199672678

3 SubmittersRCV000270227RCV000310085RCV000313643RCV000362418RCV001833439
NM_002778.4(PSAP):c.189C>T (p.Cys63=) SNV
Germline		 Chr10:71831906 Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5547853 rs_111369573

4 SubmittersRCV000300495RCV000301590RCV000355292RCV000971779RCV001672431
NM_002778.4(PSAP):c.*9A>G SNV
Germline		 Chr10:71817432 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency		 Criteria Provided
Conflicting Classifications
 CA5547287 rs_376628499

1 SubmittersRCV000279004RCV000294266RCV000318911RCV000375756
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys) SNV
Germline		 Chr10:71819554 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency		 Criteria Provided
Conflicting Classifications
 CA5547418 rs_529719024

2 SubmittersRCV000267782RCV000360171RCV000320675RCV000377595
NM_002778.4(PSAP):c.714C>G (p.Ala238=) SNV
Germline		 Chr10:71828020 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5547688 rs_141199649

3 SubmittersRCV000332576RCV000354645RCV000370671RCV000902915RCV003417974
NM_002778.4(PSAP):c.557G>A (p.Arg186His) SNV
Germline		 Chr10:71828896 Conflicting classifications of pathogenicity Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency		 Criteria Provided
Conflicting Classifications
 CA5547747 rs_138880818

2 SubmittersRCV000291043RCV000345936RCV000391944RCV000401145
NM_002778.4(PSAP):c.250-12G>A SNV
Germline		 Chr10:71831263 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency		 Criteria Provided
Conflicting Classifications
 CA10636149 rs_886047152

2 SubmittersRCV000268193RCV000288083RCV000323233RCV000382490
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser) SNV
Germline		 Chr10:71834434 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency		 Criteria Provided
Conflicting Classifications
 CA5547902 rs_535525554

2 SubmittersRCV000279820RCV000334914RCV000333853RCV000388278
NM_002778.4(PSAP):c.40+12G>A SNV
Germline		 Chr10:71851170 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency		 Criteria Provided
Conflicting Classifications
 CA10636150 rs_886047153

2 SubmittersRCV000283508RCV000318811RCV000343158RCV000378161
NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter) SNV
Germline		 Chr10:71819093 Likely pathogenic Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Condition: not provided		 Criteria Provided
Single Submitter
 CA377142142 rs_1554879741

2 SubmittersRCV000505561RCV004719844
NM_002778.4(PSAP):c.257T>A (p.Ile86Asn) SNV
Germline		 Chr10:71831244 Likely pathogenic Inborn genetic diseases
Krabbe disease due to saposin A deficiency
PSAP-related disorder		 Criteria Provided
Single Submitter
 CA377154031 rs_1554881272

3 SubmittersRCV000624741RCV001731817RCV004722987
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) SNV
Germline		 Chr10:71819760 Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Metachromatic leukodystrophy		 Criteria Provided
Conflicting Classifications
 rs_573095617

3 SubmittersRCV000943827RCV001107536RCV001107537RCV001107538RCV001272673
NM_002778.4(PSAP):c.*737G>A SNV
Germline		 Chr10:71816704 Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency		 Criteria Provided
Conflicting Classifications
 rs_147046509

1 SubmittersRCV001106603RCV001106602RCV001108768RCV001108767
NM_002778.4(PSAP):c.*376A>G SNV
Germline		 Chr10:71817065 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency		 Criteria Provided
Conflicting Classifications
 rs_141906397

1 SubmittersRCV001103619RCV001103620RCV001105559RCV001105558
NM_002778.4(PSAP):c.1197C>T (p.His399=) SNV
Germline		 Chr10:71819618 Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency		 Criteria Provided
Conflicting Classifications
 rs_748761213

2 SubmittersRCV001106864RCV001106865RCV001106866RCV001106867
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser) SNV
Germline		 Chr10:71828888 Conflicting classifications of pathogenicity Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
not specified		 Criteria Provided
Conflicting Classifications
 rs_188854022

2 SubmittersRCV001104312RCV001104309RCV001104310RCV001104311RCV003235470
NM_002778.4(PSAP):c.423C>T (p.Leu141=) SNV
Germline		 Chr10:71829030 Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency		 Criteria Provided
Conflicting Classifications
 rs_780891597

2 SubmittersRCV001107070RCV001107069RCV001107067RCV001107068
NM_002778.4(PSAP):c.249+6C>T SNV
Germline		 Chr10:71831840 Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_774663731

4 SubmittersRCV001104399RCV001104400RCV001104401RCV001104402RCV002555021RCV004792724
NM_002778.4(PSAP):c.721-1G>A SNV
Germline		 Chr10:71825894 Likely pathogenic Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1842392331

2 SubmittersRCV001244145RCV004821301
NM_002778.4(PSAP):c.209T>G (p.Val70Gly) SNV
Germline		 Chr10:71831886 Pathogenic Krabbe disease due to saposin A deficiency No Assertion Criteria Provided
 rs_2133049150

1 SubmittersRCV001731262