Total 71 pathogenic variants reported for Farber lipogranulomatosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_177924.5(ASAH1):c.665C>A (p.Thr222Lys) SNV
Germline		 Chr8:18061724 Pathogenic Farber lipogranulomatosis No Assertion Criteria Provided
 CA113838 rs_137853593

1 SubmittersRCV000000111
NM_177924.5(ASAH1):c.413A>T (p.Glu138Val) SNV
Germline		 Chr8:18064501 Likely pathogenic Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA113840 rs_137853594

3 SubmittersRCV000000112RCV000853547
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) SNV
Germline		 Chr8:18075559 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 CA113842 rs_137853595

2 SubmittersRCV000000113
NM_177924.5(ASAH1):c.958A>G (p.Asn320Asp) SNV
Germline		 Chr8:18059424 Pathogenic Farber lipogranulomatosis No Assertion Criteria Provided
 CA113844 rs_137853596

1 SubmittersRCV000000114
NM_177924.5(ASAH1):c.544C>G (p.Leu182Val) SNV
Germline		 Chr8:18062383 Pathogenic Farber lipogranulomatosis No Assertion Criteria Provided
 CA113846 rs_137853597

1 SubmittersRCV000000115
NM_177924.5(ASAH1):c.917+4A>G SNV
Germline		 Chr8:18059568 Pathogenic Farber lipogranulomatosis No Assertion Criteria Provided
 CA144005 rs_397509415

2 SubmittersRCV000049322
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) SNV
Germline		 Chr8:18062422 Pathogenic/Likely pathogenic Condition: not provided
Farber lipogranulomatosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236461 rs_756455049

3 SubmittersRCV000171533RCV001728167
NM_177924.5(ASAH1):c.457+7G>A SNV
Germline		 Chr8:18064450 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4650852 rs_189892461

3 SubmittersRCV000259794RCV000952361
NM_177924.4(ASAH1):c.-101G>A SNV
Germline		 Chr8:18084159 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10627374 rs_139001299

2 SubmittersRCV000297005RCV001560351
NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp) SNV
Germline		 Chr8:18061458 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10630531 rs_886062781

3 SubmittersRCV000367143RCV000853060
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) SNV
Germline		 Chr8:18062298 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Childhood epilepsy with centrotemporal spikes
Condition: not provided
Inborn genetic diseases
not specified
ASAH1-related disorders		 Criteria Provided
Conflicting Classifications
 CA4650763 rs_141068211

12 SubmittersRCV000275237RCV000656011RCV000710620RCV002523650RCV002509374RCV004549826
NM_177924.5(ASAH1):c.382+9C>G SNV
Germline		 Chr8:18067211 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4650894 rs_371977439

2 SubmittersRCV000317382RCV002058712
NM_177924.5(ASAH1):c.183A>G (p.Arg61=) SNV
Germline		 Chr8:18071333 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4650992 rs_559209309

3 SubmittersRCV000407217RCV002058713
NM_177924.5(ASAH1):c.504-4A>G SNV
Germline		 Chr8:18062427 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Farber lipogranulomatosis		 Criteria Provided
Conflicting Classifications
 CA4650794 rs_138920776

4 SubmittersRCV002523652RCV001289242RCV000389449
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) SNV
Germline		 Chr8:18064504 Pathogenic/Likely pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Condition: not provided
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Farber lipogranulomatosis
ASAH1-related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4650862 rs_371666412

5 SubmittersRCV000416939RCV001861470RCV002502451RCV004551416
NM_177924.5(ASAH1):c.648+1G>C SNV
Germline		 Chr8:18062278 Likely pathogenic Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA370429792 rs_1411267767

3 SubmittersRCV000614436RCV001854142
NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg) SNV
Germline		 Chr8:18061686 Pathogenic Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1554808625

2 SubmittersRCV000656521RCV002536315
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) SNV
Germline		 Chr8:18059385 Pathogenic/Likely pathogenic Condition: not provided
Farber lipogranulomatosis
Abnormality of metabolism/homeostasis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_543697946

8 SubmittersRCV000710617RCV001003303RCV001814223
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met) SNV
Germline		 Chr8:18059378 Conflicting classifications of pathogenicity Condition: not provided
Farber lipogranulomatosis
ASAH1-related disorders		 Criteria Provided
Conflicting Classifications
 rs_147233112

8 SubmittersRCV000853062RCV001159010RCV004549916
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn) SNV
Germline		 Chr8:18075578 Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Condition: not provided
Farber lipogranulomatosis		 Criteria Provided
Conflicting Classifications
 rs_200758704

4 SubmittersRCV000855489RCV000983934RCV001164025
NM_177924.5(ASAH1):c.382+10A>G SNV
Germline		 Chr8:18067210 Conflicting classifications of pathogenicity Condition: not provided
Farber lipogranulomatosis
not specified		 Criteria Provided
Conflicting Classifications
 rs_201735910

4 SubmittersRCV000951860RCV001162014RCV001700519
NM_177924.5(ASAH1):c.1175G>A (p.Cys392Tyr) SNV
Unknown		 Chr8:18057547 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_746513660

1 SubmittersRCV001003321
NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln) SNV
Germline		 Chr8:18058837 Likely pathogenic Farber lipogranulomatosis
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1588973202

2 SubmittersRCV001003308RCV004798880
NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg) SNV
Germline		 Chr8:18058848 Pathogenic/Likely pathogenic Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1588973237

2 SubmittersRCV001003328RCV001860537
NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr) SNV
Germline		 Chr8:18058849 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_1588973247

1 SubmittersRCV001003318
NM_177924.5(ASAH1):c.998G>A (p.Arg333His) SNV
Germline		 Chr8:18059384 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1588974098

3 SubmittersRCV001003327RCV001860536
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys) SNV
Germline		 Chr8:18059385 Likely pathogenic Farber lipogranulomatosis
Condition: not provided
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_543697946

3 SubmittersRCV001003320RCV001860534RCV004796343
NM_177924.5(ASAH1):c.991G>A (p.Asp331Asn) SNV
Germline		 Chr8:18059391 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1354060089

2 SubmittersRCV001003325RCV003558632
NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser) SNV
Germline		 Chr8:18059423 Likely pathogenic Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1588974267

2 SubmittersRCV001003324RCV001784545
NM_177924.5(ASAH1):c.833C>T (p.Pro278Leu) SNV
Unknown		 Chr8:18059656 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_895669204

1 SubmittersRCV001003323
NM_177924.5(ASAH1):c.770T>C (p.Leu257Pro) SNV
Germline		 Chr8:18061392 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_1588977010

1 SubmittersRCV001003322
NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly) SNV
Germline		 Chr8:18061402 Pathogenic Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1564537266

2 SubmittersRCV001003307RCV003558631
NM_177924.5(ASAH1):c.677G>C (p.Arg226Pro) SNV
Germline		 Chr8:18061712 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_377749094

1 SubmittersRCV001003317
NM_177924.5(ASAH1):c.593T>C (p.Val198Ala) SNV
Germline		 Chr8:18062334 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_1588978706

1 SubmittersRCV001003304
NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys) SNV
Germline		 Chr8:18062389 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_762756953

1 SubmittersRCV001003313
NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile) SNV
Germline		 Chr8:18062409 Pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Farber lipogranulomatosis		 Criteria Provided
Single Submitter
 rs_1588978873

1 SubmittersRCV001003309
NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp) SNV
Germline		 Chr8:18063186 Pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_1421841663

1 SubmittersRCV001003306
NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter) SNV
Germline		 Chr8:18064502 Pathogenic/Likely pathogenic Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1588982399

2 SubmittersRCV001003326RCV001860535
NM_177924.5(ASAH1):c.408T>A (p.Phe136Leu) SNV
Germline		 Chr8:18064506 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_1588982421

1 SubmittersRCV001003302
NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro) SNV
Germline		 Chr8:18067288 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_1588986195

1 SubmittersRCV001003333
NM_177924.5(ASAH1):c.290T>G (p.Val97Gly) SNV
Germline		 Chr8:18069805 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Multiple Submitters
No Conflicts
 rs_1588989964

2 SubmittersRCV001003300
NM_177924.5(ASAH1):c.290T>A (p.Val97Glu) SNV
Germline		 Chr8:18069805 Pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_1588989964

1 SubmittersRCV001003301
NM_177924.5(ASAH1):c.92G>T (p.Cys31Phe) SNV
Unknown		 Chr8:18075574 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_1588999402

1 SubmittersRCV001003319
NM_177924.5(ASAH1):c.1098+1G>T SNV
Germline		 Chr8:18058834 Pathogenic/Likely pathogenic Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_763842677

2 SubmittersRCV001003337RCV002549208
NM_177924.5(ASAH1):c.917+5G>A SNV
Unknown		 Chr8:18059567 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_1588974593

1 SubmittersRCV001003336
NM_177924.5(ASAH1):c.704-2A>G SNV
Germline		 Chr8:18061460 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_1588977181

1 SubmittersRCV001003334
NM_177924.5(ASAH1):c.457+4A>G SNV
Germline		 Chr8:18064453 Pathogenic/Likely pathogenic Farber lipogranulomatosis
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_767864356

6 SubmittersRCV001003331RCV001553355RCV002549207
NM_177924.5(ASAH1):c.1153C>T (p.Leu385=) SNV
Germline		 Chr8:18057569 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_770772909

2 SubmittersRCV001163939RCV003769792
NM_177924.5(ASAH1):c.1107A>T (p.Val369=) SNV
Germline		 Chr8:18057615 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_781019071

2 SubmittersRCV001163941RCV002067995
NM_177924.5(ASAH1):c.771G>T (p.Leu257=) SNV
Germline		 Chr8:18061391 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1799692515

2 SubmittersRCV001159014RCV002558403
NM_177924.5(ASAH1):c.261C>T (p.Phe87=) SNV
Germline		 Chr8:18069834 Conflicting classifications of pathogenicity Farber lipogranulomatosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_138662754

2 SubmittersRCV001164022RCV002067998
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile) SNV
Germline		 Chr8:18084056 Pathogenic/Likely pathogenic Condition: not provided
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Farber lipogranulomatosis
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_966267709

3 SubmittersRCV001507724RCV001647301RCV002506589
NM_177924.5(ASAH1):c.427T>G (p.Cys143Gly) SNV
Germline		 Chr8:18064487 Pathogenic Farber lipogranulomatosis No Assertion Criteria Provided
 rs_2117037405

1 SubmittersRCV001728066
NM_177924.5(ASAH1):c.358G>C (p.Ala120Pro) SNV
Germline		 Chr8:18067244 Pathogenic Farber lipogranulomatosis No Assertion Criteria Provided
 rs_2117047219

1 SubmittersRCV001728067
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter) SNV
Germline		 Chr8:18071330 Pathogenic/Likely pathogenic Condition: not provided
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Farber lipogranulomatosis
ASAH1-related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_769683272

3 SubmittersRCV001780646RCV002482308RCV004738381
NM_177924.5(ASAH1):c.413A>G (p.Glu138Gly) SNV
Germline		 Chr8:18064501 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_137853594

1 SubmittersRCV002250396
NM_177924.5(ASAH1):c.94A>T (p.Arg32Ter) SNV
Germline		 Chr8:18075572 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter
 rs_1588999386

1 SubmittersRCV002272649
NM_177924.5(ASAH1):c.1042-2A>C SNV
Germline		 Chr8:18058893 Likely pathogenic Condition: not provided
Farber lipogranulomatosis		 Criteria Provided
Single Submitter

2 SubmittersRCV003681456RCV004784169
NM_177924.5(ASAH1):c.704G>T (p.Gly235Val) SNV
Germline		 Chr8:18061458 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter

1 SubmittersRCV003991146
NM_177924.5(ASAH1):c.786-1G>T SNV
Germline		 Chr8:18059704 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter

1 SubmittersRCV003993529
NM_177924.5(ASAH1):c.457G>C (p.Gly153Arg) SNV
Germline		 Chr8:18064457 Likely pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter

1 SubmittersRCV003993554
NM_177924.5(ASAH1):c.80G>A (p.Trp27Ter) SNV
Germline		 Chr8:18075586 Pathogenic Farber lipogranulomatosis Criteria Provided
Single Submitter

1 SubmittersRCV004819275