Total 78 pathogenic variants reported for Perrault syndrome 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) SNV
Germline		 Chr5:119452621 Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency
Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
HSD17B4-related disorder
Perrault syndrome 1
Perrault syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118960 rs_137853096

27 SubmittersRCV000008094RCV000415821RCV000688945RCV000779455RCV001197145RCV002512888
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) SNV
Germline		 Chr5:119509176 Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency
Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
not specified		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118961 rs_137853097

13 SubmittersRCV000008095RCV000385297RCV000477799RCV000684773RCV001002204
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) SNV
Germline		 Chr5:119456357 Conflicting classifications of pathogenicity Perrault syndrome 1
Condition: not provided
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Conflicting Classifications
 CA163180 rs_587777442

5 SubmittersRCV000125465RCV001092766RCV001810425RCV003764860RCV004567068
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) SNV
Germline		 Chr5:119525259 Pathogenic/Likely pathogenic Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Rare genetic deafness
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA163183 rs_587777443

8 SubmittersRCV000125466RCV000672665RCV000825530RCV001849905RCV003144135
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) SNV
Germline		 Chr5:119525971 Likely pathogenic Perrault syndrome 1
Condition: not provided
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA163187 rs_201009485

4 SubmittersRCV000125468RCV000730879RCV001849906RCV003467098
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp) SNV
Germline		 Chr5:119477434 Likely pathogenic Condition: not provided
Perrault syndrome 1		 Criteria Provided
Single Submitter
 CA236235 rs_786205574

1 SubmittersRCV000171384RCV003987412
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) SNV
Germline		 Chr5:119478925 Likely pathogenic Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236237 rs_775766910

3 SubmittersRCV000171385RCV003317125RCV003987413RCV003765072
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile) SNV
Germline		 Chr5:119452578 Likely pathogenic Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Single Submitter
 CA360861571 rs_1085307072

1 SubmittersRCV000490425
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) SNV
Germline		 Chr5:119496624 Conflicting classifications of pathogenicity not specified
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
HSD17B4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3382045 rs_150326995

10 SubmittersRCV000222427RCV000380697RCV000344886RCV000731627RCV001083539RCV000765793RCV004532757
NM_000414.4(HSD17B4):c.1210-8T>C SNV
Germline		 Chr5:119502033 Conflicting classifications of pathogenicity not specified
Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1		 Criteria Provided
Conflicting Classifications
 CA3382132 rs_34254740

6 SubmittersRCV000219017RCV000729169RCV001082967RCV001157688RCV001157689
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) SNV
Germline		 Chr5:119525278 Conflicting classifications of pathogenicity not specified
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Condition: not provided
HSD17B4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3382309 rs_184492796

7 SubmittersRCV000217919RCV000264639RCV000359350RCV000906457RCV001580473RCV004541308
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val) SNV
Germline		 Chr5:119541959 Conflicting classifications of pathogenicity Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
HSD17B4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3382536 rs_145728297

5 SubmittersRCV000401079RCV002227469RCV002518987RCV004543107
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) SNV
Germline		 Chr5:119499475 Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Condition: not provided
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
HSD17B4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3382094 rs_200347945

6 SubmittersRCV000346085RCV000291054RCV000728584RCV001086922RCV004530413
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) SNV
Germline		 Chr5:119536454 Conflicting classifications of pathogenicity Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Conflicting Classifications
 CA3382496 rs_763204818

2 SubmittersRCV000336683RCV000401438RCV001407465
NM_000414.4(HSD17B4):c.*135T>G SNV
Germline		 Chr5:119542129 Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10618825 rs_185522709

1 SubmittersRCV000317273RCV000374259
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) SNV
Germline		 Chr5:119493889 Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Condition: not provided
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Conflicting Classifications
 CA3381989 rs_543710228

3 SubmittersRCV000319617RCV000374018RCV000730900RCV002520294
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) SNV
Germline		 Chr5:119525971 Conflicting classifications of pathogenicity Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA3382344 rs_201009485

6 SubmittersRCV000270907RCV000326000RCV001298354RCV002244837RCV002523497RCV003155169
NM_000414.4(HSD17B4):c.*278T>A SNV
Germline		 Chr5:119542272 Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10622284 rs_149665666

2 SubmittersRCV000307438RCV000364528RCV001577125
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) SNV
Germline		 Chr5:119525939 Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
not specified
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
HSD17B4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3382336 rs_758045328

5 SubmittersRCV000324422RCV000379389RCV000608795RCV000977055RCV004530414
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) SNV
Germline		 Chr5:119493821 Conflicting classifications of pathogenicity Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
not specified
HSD17B4-related disorder
Perrault syndrome 1		 Criteria Provided
Conflicting Classifications
 CA3381977 rs_748057401

8 SubmittersRCV000493335RCV000671323RCV001856978RCV002282178RCV004541543RCV005001988
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) SNV
Germline		 Chr5:119525228 Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Condition: not provided
Inborn genetic diseases
Perrault syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3382299 rs_766199971

9 SubmittersRCV000590157RCV000763126RCV001220352RCV002260650RCV002530904RCV003987613
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter) SNV
Germline		 Chr5:119536545 Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_771510541

3 SubmittersRCV000671728RCV001644761
NM_000414.4(HSD17B4):c.1210-11C>G SNV
Germline		 Chr5:119502030 Likely pathogenic Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_779466683

5 SubmittersRCV000676080RCV001250119RCV003317335
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) SNV
Germline		 Chr5:119496625 Conflicting classifications of pathogenicity Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Conflicting Classifications
 rs_779198396

3 SubmittersRCV000732993RCV001155976RCV001155977RCV001401487
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) SNV
Germline		 Chr5:119531340 Conflicting classifications of pathogenicity Condition: not provided
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
HSD17B4-related disorder		 Criteria Provided
Conflicting Classifications
 rs_148189286

4 SubmittersRCV000762156RCV001157788RCV001157789RCV001089341RCV004540086
NM_014672.4(PRORP):c.1454C>T (p.Ala485Val) SNV
Germline		 Chr14:35270430 Pathogenic/Likely pathogenic Perrault syndrome 1
Combined oxidative phosphorylation deficiency 54		 No Assertion Criteria Provided
 rs_1169927428

2 SubmittersRCV000855453RCV001824882
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) SNV
Germline		 Chr5:119527156 Pathogenic Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Condition: not provided
Perrault syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1038744864

8 SubmittersRCV000023153RCV000811384RCV001260323RCV001556667RCV002538095
NM_000414.4(HSD17B4):c.622+5G>A SNV
Germline		 Chr5:119479026 Conflicting classifications of pathogenicity Condition: not provided
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
HSD17B4-related disorder
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Conflicting Classifications
 rs_536487449

5 SubmittersRCV000841012RCV001157567RCV001157568RCV004538156RCV002536126
NM_000414.3(HSD17B4):c.-119C>G SNV
Germline		 Chr5:119452457 Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_11739468

1 SubmittersRCV001152003RCV001152002
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=) SNV
Germline		 Chr5:119506819 Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome		 Criteria Provided
Conflicting Classifications
 rs_764406724

2 SubmittersRCV001152210RCV001157691RCV002070846
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=) SNV
Germline		 Chr5:119527135 Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome		 Criteria Provided
Conflicting Classifications
 rs_1239645507

2 SubmittersRCV001156099RCV001156100RCV002558357
NM_000414.4(HSD17B4):c.112+11G>A SNV
Germline		 Chr5:119456379 Conflicting classifications of pathogenicity Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome		 Criteria Provided
Conflicting Classifications
 rs_775970480

2 SubmittersRCV001153266RCV001153265RCV003769733
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) SNV
Germline		 Chr5:119489221 Pathogenic/Likely pathogenic Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1749878115

3 SubmittersRCV001645023RCV002546240RCV003469556
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His) SNV
Germline		 Chr5:119541990 Likely pathogenic Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1755036404

2 SubmittersRCV001332424RCV004035740
NM_000414.4(HSD17B4):c.1333+1G>C SNV
Germline		 Chr5:119506890 Likely pathogenic Perrault syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1369305726

2 SubmittersRCV001726506
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) SNV
Germline		 Chr5:119477488 Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Perrault syndrome 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2126696915

3 SubmittersRCV001389499RCV002246377RCV002504652
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr) SNV
Germline		 Chr5:119525249 Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Conflicting Classifications
 rs_764300456

2 SubmittersRCV001387757RCV001810508
NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=) SNV
Germline		 Chr5:119527219 Likely pathogenic Perrault syndrome 1 Criteria Provided
Single Submitter
 rs_142527052

1 SubmittersRCV001728013
NM_000138.5(FBN1):c.1867T>A (p.Cys623Ser) SNV
Germline		 Chr15:48505118 Likely pathogenic Perrault syndrome 1 Criteria Provided
Single Submitter
 rs_2141317422

1 SubmittersRCV001806331
NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His) SNV
Germline		 Chr5:119478865 Likely pathogenic Perrault syndrome 1 Criteria Provided
Single Submitter
 rs_2126702600

1 SubmittersRCV001806366
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe) SNV
Germline		 Chr5:119499459 Likely pathogenic Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1198548214

2 SubmittersRCV002022920RCV004732495
NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe) SNV
Germline		 Chr5:119478931 Pathogenic Perrault syndrome 1 Criteria Provided
Single Submitter
 rs_1307944675

1 SubmittersRCV002250053
NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter) SNV
Unknown		 Chr5:119474421 Likely pathogenic Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1		 Criteria Provided
Single Submitter

1 SubmittersRCV002306493
NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter) SNV
Unknown		 Chr5:119525940 Likely pathogenic Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Single Submitter

1 SubmittersRCV002308315
NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter) SNV
Unknown		 Chr5:119525948 Likely pathogenic Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency		 Criteria Provided
Single Submitter

1 SubmittersRCV002310476
NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter) SNV
Germline		 Chr5:119493943 Likely pathogenic Perrault syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003988758
NM_000414.4(HSD17B4):c.1545C>G (p.His515Gln) SNV
Germline		 Chr5:119525257 Pathogenic Perrault syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003988793
NM_000414.4(HSD17B4):c.1604G>T (p.Cys535Phe) SNV
Germline		 Chr5:119525947 Likely pathogenic Perrault syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003990270