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	Conflicting classifications of pathogenicity	Bifunctional peroxisomal enzyme deficiency Condition: not provided Bifunctional peroxisomal enzyme deficiency Perrault syndrome HSD17B4-related disorder Perrault syndrome 1 Perrault syndrome Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	Criteria Provided Conflicting Classifications	CA118960	rs_137853096	28 SubmittersRCV000008094 RCV000415821 RCV000688945 RCV000779455 RCV001197145 RCV002512888 RCV005031420
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	SNV Germline	Chr5:119509176	Pathogenic/Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Condition: not provided Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency Perrault syndrome not specified	Criteria Provided Multiple Submitters No Conflicts	CA118961	rs_137853097	14 SubmittersRCV000008095 RCV000385297 RCV000477799 RCV000684773 RCV001002204
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 Bifunctional peroxisomal enzyme deficiency Perrault syndrome Bifunctional peroxisomal enzyme deficiency	Criteria Provided Conflicting Classifications	CA163180	rs_587777442	5 SubmittersRCV000125465 RCV001092766 RCV001810425 RCV003764860 RCV004567068
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 Bifunctional peroxisomal enzyme deficiency Perrault syndrome Condition: not provided Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	Criteria Provided Multiple Submitters No Conflicts	CA163183	rs_587777443	11 SubmittersRCV000125466 RCV000672665 RCV000825530 RCV001849905 RCV003144135 RCV005031635
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu)	SNV Germline	Chr5:119525250	Conflicting classifications of pathogenicity	Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	No Assertion Criteria Provided	CA163185	rs_587777444	2 SubmittersRCV000125467 RCV000675096
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)	SNV Germline	Chr5:119525971	Conflicting classifications of pathogenicity	Perrault syndrome 1 Condition: not provided Perrault syndrome Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency not specified	Criteria Provided Conflicting Classifications	CA163187	rs_201009485	5 SubmittersRCV000125468 RCV000730879 RCV001849906 RCV003467098 RCV006263678
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 SubmittersRCV000171384 RCV003987412
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)	SNV Germline	Chr5:119478925	Likely pathogenic	Condition: not provided Bifunctional peroxisomal enzyme deficiency Perrault syndrome Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA236237	rs_775766910	4 SubmittersRCV000171385 RCV003317125 RCV003765072 RCV003987413
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 Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Condition: not provided Bifunctional peroxisomal enzyme deficiency Perrault syndrome HSD17B4-related disorder	Criteria Provided Conflicting Classifications	CA3382045	rs_150326995	11 SubmittersRCV000222427 RCV000344886 RCV000380697 RCV000765793 RCV000731627 RCV001083539 RCV004532757
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	7 SubmittersRCV000219017 RCV000729169 RCV001082967 RCV001157688 RCV001157689
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)	SNV Germline	Chr5:119525278	Conflicting classifications of pathogenicity	not specified Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency Perrault syndrome Condition: not provided HSD17B4-related disorder	Criteria Provided Conflicting Classifications	CA3382309	rs_184492796	7 SubmittersRCV000217919 RCV000359350 RCV000264639 RCV000906457 RCV001580473 RCV004541308
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)	SNV Germline	Chr5:119541959	Conflicting classifications of pathogenicity	Condition: not provided Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency Perrault syndrome HSD17B4-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3382536	rs_145728297	6 SubmittersRCV000401079 RCV002227469 RCV002518987 RCV004543107 RCV005851519
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)	SNV Germline	Chr5:119499475	Conflicting classifications of pathogenicity	Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency Condition: not provided Bifunctional peroxisomal enzyme deficiency Perrault syndrome HSD17B4-related disorder	Criteria Provided Conflicting Classifications	CA3382094	rs_200347945	6 SubmittersRCV000291054 RCV000346085 RCV000728584 RCV001086922 RCV004530413
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=)	SNV Germline	Chr5:119536454	Conflicting classifications of pathogenicity	Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency Perrault syndrome	Criteria Provided Conflicting Classifications	CA3382496	rs_763204818	2 SubmittersRCV000336683 RCV000401438 RCV001407465
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 SubmittersRCV000317273 RCV000374259
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 Bifunctional peroxisomal enzyme deficiency Perrault syndrome	Criteria Provided Conflicting Classifications	CA3381989	rs_543710228	4 SubmittersRCV000319617 RCV000374018 RCV000730900 RCV002520294
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 SubmittersRCV000270907 RCV000326000 RCV001298354 RCV002244837 RCV002523497 RCV003155169
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 SubmittersRCV000307438 RCV000364528 RCV001577125
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 Bifunctional peroxisomal enzyme deficiency Perrault syndrome HSD17B4-related disorder	Criteria Provided Conflicting Classifications	CA3382336	rs_758045328	5 SubmittersRCV000324422 RCV000379389 RCV000608795 RCV000977055 RCV004530414
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)	SNV Germline	Chr5:119456323	Pathogenic/Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency Perrault syndrome Inborn genetic diseases Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA3381653	rs_765702241	5 SubmittersRCV000411032 RCV001861399 RCV002523882 RCV005033921
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)	SNV Germline	Chr5:119493820	Pathogenic	Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency Perrault syndrome Condition: not provided Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16040964	rs_969485098	7 SubmittersRCV000409273 RCV000815715 RCV001840499 RCV005033919
NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter)	SNV Germline	Chr5:119496546	Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16040965	rs_1057516269	3 SubmittersRCV000410643 RCV005044606
NM_000414.4(HSD17B4):c.1574-1G>A	SNV Germline	Chr5:119525916	Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency Perrault syndrome Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA3382331	rs_755412738	3 SubmittersRCV000411356 RCV001865269 RCV005044613
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 SubmittersRCV000493335 RCV000671323 RCV001856978 RCV002282178 RCV004541543 RCV005001988
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 SubmittersRCV000590157 RCV000763126 RCV001220352 RCV002260650 RCV002530904 RCV003987613
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His)	SNV Germline	Chr5:119527137	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Bifunctional peroxisomal enzyme deficiency Perrault syndrome Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 HSD17B4-related disorder	Criteria Provided Conflicting Classifications	CA3382364	rs_35281104	6 SubmittersRCV000595870 RCV002532637 RCV002532638 RCV005034172 RCV004543384
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)	SNV Germline	Chr5:119525229	Pathogenic/Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency Perrault syndrome Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA360869059	rs_1554068136	6 SubmittersRCV000670512 RCV003767986 RCV005034257
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)	SNV Germline	Chr5:119536545	Pathogenic/Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA3382508	rs_771510541	3 SubmittersRCV000671728 RCV001644761
NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp)	SNV Germline	Chr5:119493829	Conflicting classifications of pathogenicity	Condition: not provided Perrault syndrome Bifunctional peroxisomal enzyme deficiency not specified Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Conflicting Classifications	CA3381978	rs_771780974	4 SubmittersRCV000676077 RCV001855620 RCV003235343 RCV005034281
NM_000414.4(HSD17B4):c.1210-11C>G	SNV Germline	Chr5:119502030	Conflicting classifications of pathogenicity	Condition: not provided Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	Criteria Provided Conflicting Classifications	CA3382130	rs_779466683	5 SubmittersRCV000676080 RCV001250119 RCV003317335
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys)	SNV Germline	Chr5:119525968	Conflicting classifications of pathogenicity	Condition: not provided Perrault syndrome Bifunctional peroxisomal enzyme deficiency Inborn genetic diseases HSD17B4-related disorder Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	Criteria Provided Conflicting Classifications	CA3382341	rs_546653967	7 SubmittersRCV000728776 RCV001458298 RCV003353008 RCV004540039 RCV005392332
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	CA3382046	rs_779198396	3 SubmittersRCV000732993 RCV001155976 RCV001155977 RCV001401487
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=)	SNV Germline	Chr5:119531340	Conflicting classifications of pathogenicity	Condition: not provided Perrault syndrome Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency HSD17B4-related disorder	Criteria Provided Conflicting Classifications	CA3382465	rs_148189286	4 SubmittersRCV000762156 RCV001089341 RCV001157788 RCV001157789 RCV004540086
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	CA389490807	rs_1169927428	2 SubmittersRCV000855453 RCV001824882
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 Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA125855311	rs_1038744864	9 SubmittersRCV000023153 RCV000811384 RCV001260323 RCV001556667 RCV002538095 RCV005047098
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 Perrault syndrome Bifunctional peroxisomal enzyme deficiency HSD17B4-related disorder	Criteria Provided Conflicting Classifications	CA3381896	rs_536487449	5 SubmittersRCV000841012 RCV001157567 RCV001157568 RCV002536126 RCV004538156
NM_000414.3(HSD17B4):c.-119C>G	SNV Germline	Chr5:119452457	Conflicting classifications of pathogenicity	Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	Criteria Provided Conflicting Classifications	CA125914992	rs_11739468	1 SubmittersRCV001152002 RCV001152003
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=)	SNV Germline	Chr5:119506819	Conflicting classifications of pathogenicity	Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Perrault syndrome Bifunctional peroxisomal enzyme deficiency	Criteria Provided Conflicting Classifications	CA3382168	rs_764406724	2 SubmittersRCV001152210 RCV001157691 RCV002070846
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)	SNV Germline	Chr5:119527135	Conflicting classifications of pathogenicity	Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Perrault syndrome Bifunctional peroxisomal enzyme deficiency	Criteria Provided Conflicting Classifications	CA446036710	rs_1239645507	2 SubmittersRCV001156099 RCV001156100 RCV002558357
NM_000414.4(HSD17B4):c.112+11G>A	SNV Germline	Chr5:119456379	Conflicting classifications of pathogenicity	Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency Perrault syndrome	Criteria Provided Conflicting Classifications	CA3381669	rs_775970480	2 SubmittersRCV001153265 RCV001153266 RCV003769733
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)	SNV Germline	Chr5:119489221	Pathogenic/Likely pathogenic	Perrault syndrome 1 Perrault syndrome Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency	Criteria Provided Multiple Submitters No Conflicts	CA360866929	rs_1749878115	3 SubmittersRCV001645023 RCV002546240 RCV003469556
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	CA360872780	rs_1755036404	2 SubmittersRCV001332424 RCV004035740
NM_000414.4(HSD17B4):c.1333+1G>C	SNV Germline	Chr5:119506890	Likely pathogenic	Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA360868649	rs_1369305726	2 SubmittersRCV001726506
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)	SNV Germline	Chr5:119477488	Pathogenic	Bifunctional peroxisomal enzyme deficiency Perrault syndrome Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA360865322	rs_2126696915	2 SubmittersRCV001389499 RCV002246377
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	CA3382304	rs_764300456	2 SubmittersRCV001387757 RCV001810508
NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=)	SNV Germline	Chr5:119527219	Likely pathogenic	Perrault syndrome 1	Criteria Provided Single Submitter	CA446036758	rs_142527052	1 SubmittersRCV001728013
NM_000414.4(HSD17B4):c.349+4A>G	SNV Germline	Chr5:119475874	Conflicting classifications of pathogenicity	Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	Criteria Provided Conflicting Classifications	CA2573052397	rs_2126690458	2 SubmittersRCV001797027 RCV006258654
NM_000138.5(FBN1):c.1867T>A (p.Cys623Ser)	SNV Germline	Chr15:48505118	Likely pathogenic	Perrault syndrome 1	Criteria Provided Single Submitter	CA392339149	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	CA360866121	rs_2126702600	1 SubmittersRCV001806366
NM_000414.4(HSD17B4):c.1262-1G>A	SNV Germline	Chr5:119506817	Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Perrault syndrome Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA360868492	rs_2126806430	2 SubmittersRCV002011764 RCV005032110
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe)	SNV Germline	Chr5:119499459	Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Perrault syndrome Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA360868161	rs_1198548214	2 SubmittersRCV002022920 RCV004732495
NM_000414.4(HSD17B4):c.58+1G>T	SNV Germline	Chr5:119452634	Pathogenic/Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Perrault syndrome Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	Criteria Provided Multiple Submitters No Conflicts	CA360861755	rs_1260517680	3 SubmittersRCV001959091 RCV003464326 RCV005032025
NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe)	SNV Germline	Chr5:119478931	Pathogenic	Perrault syndrome 1	Criteria Provided Single Submitter	CA360866267	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	CA360864585	rs_1026521515	1 SubmittersRCV002306493
NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)	SNV Unknown	Chr5:119525940	Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Single Submitter	CA360869246	rs_2531911970	1 SubmittersRCV002308315
NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)	SNV Unknown	Chr5:119525948	Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Single Submitter	CA360869264	rs_2531912089	1 SubmittersRCV002310476
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)	SNV Germline	Chr5:119478994	Conflicting classifications of pathogenicity	Perrault syndrome Bifunctional peroxisomal enzyme deficiency not specified Condition: not provided Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	Criteria Provided Conflicting Classifications	CA3381885	rs_781288160	5 SubmittersRCV002903774 RCV003324053 RCV003317625 RCV004784076 RCV005034463
NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)	SNV Germline	Chr5:119502045	Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA360868379	rs_2531759797	2 SubmittersRCV003469849 RCV005036810
NM_000414.4(HSD17B4):c.1573+1G>A	SNV Germline	Chr5:119525286	Likely pathogenic	Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	Criteria Provided Multiple Submitters No Conflicts	CA360869181	rs_2531905463	3 SubmittersRCV003469851 RCV005036811
NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)	SNV Germline	Chr5:119493943	Likely pathogenic	Perrault syndrome 1	Criteria Provided Single Submitter	CA360867420	rs_2531705048	1 SubmittersRCV003988758
NM_000414.4(HSD17B4):c.1545C>G (p.His515Gln)	SNV Germline	Chr5:119525257	Pathogenic	Perrault syndrome 1	Criteria Provided Single Submitter	CA3382305	rs_751742258	1 SubmittersRCV003988793
NM_000414.4(HSD17B4):c.1604G>T (p.Cys535Phe)	SNV Germline	Chr5:119525947	Likely pathogenic	Perrault syndrome 1	Criteria Provided Single Submitter	CA360869262	rs_2531912062	1 SubmittersRCV003990270
NM_000414.4(HSD17B4):c.1501C>T (p.Gln501Ter)	SNV Germline	Chr5:119515044	Likely pathogenic	Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005033189
NM_000414.4(HSD17B4):c.988C>T (p.Gln330Ter)	SNV Germline	Chr5:119499332	Likely pathogenic	Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005043102

NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)

SNV
Germline

Chr5:119452621

Conflicting classifications of pathogenicity

Bifunctional peroxisomal enzyme deficiency
Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
HSD17B4-related disorder
Perrault syndrome 1
Perrault syndrome
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Conflicting Classifications

CA118960

rs_137853096

28 SubmittersRCV000008094 RCV000415821 RCV000688945 RCV000779455 RCV001197145 RCV002512888 RCV005031420

NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)

SNV
Germline

Chr5:119509176

Pathogenic/Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Condition: not provided
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA118961

rs_137853097

14 SubmittersRCV000008095 RCV000385297 RCV000477799 RCV000684773 RCV001002204

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
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Conflicting Classifications

CA163180

rs_587777442

5 SubmittersRCV000125465 RCV001092766 RCV001810425 RCV003764860 RCV004567068

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
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Condition: not provided
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA163183

rs_587777443

11 SubmittersRCV000125466 RCV000672665 RCV000825530 RCV001849905 RCV003144135 RCV005031635

NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu)

SNV
Germline

Chr5:119525250

Conflicting classifications of pathogenicity

Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency

No Assertion Criteria Provided

CA163185

rs_587777444

2 SubmittersRCV000125467 RCV000675096

NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)

SNV
Germline

Chr5:119525971

Conflicting classifications of pathogenicity

Perrault syndrome 1
Condition: not provided
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
not specified

Criteria Provided
Conflicting Classifications

CA163187

rs_201009485

5 SubmittersRCV000125468 RCV000730879 RCV001849906 RCV003467098 RCV006263678

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 SubmittersRCV000171384 RCV003987412

NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)

SNV
Germline

Chr5:119478925

Likely pathogenic

Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA236237

rs_775766910

4 SubmittersRCV000171385 RCV003317125 RCV003765072 RCV003987413

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
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
HSD17B4-related disorder

Criteria Provided
Conflicting Classifications

CA3382045

rs_150326995

11 SubmittersRCV000222427 RCV000344886 RCV000380697 RCV000765793 RCV000731627 RCV001083539 RCV004532757

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

7 SubmittersRCV000219017 RCV000729169 RCV001082967 RCV001157688 RCV001157689

NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)

SNV
Germline

Chr5:119525278

Conflicting classifications of pathogenicity

not specified
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Condition: not provided
HSD17B4-related disorder

Criteria Provided
Conflicting Classifications

CA3382309

rs_184492796

7 SubmittersRCV000217919 RCV000359350 RCV000264639 RCV000906457 RCV001580473 RCV004541308

NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)

SNV
Germline

Chr5:119541959

Conflicting classifications of pathogenicity

Condition: not provided
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
HSD17B4-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3382536

rs_145728297

6 SubmittersRCV000401079 RCV002227469 RCV002518987 RCV004543107 RCV005851519

NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)

SNV
Germline

Chr5:119499475

Conflicting classifications of pathogenicity

Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
HSD17B4-related disorder

Criteria Provided
Conflicting Classifications

CA3382094

rs_200347945

6 SubmittersRCV000291054 RCV000346085 RCV000728584 RCV001086922 RCV004530413

NM_000414.4(HSD17B4):c.2025G>A (p.Val675=)

SNV
Germline

Chr5:119536454

Conflicting classifications of pathogenicity

Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome

Criteria Provided
Conflicting Classifications

CA3382496

rs_763204818

2 SubmittersRCV000336683 RCV000401438 RCV001407465

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 SubmittersRCV000317273 RCV000374259

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
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome

Criteria Provided
Conflicting Classifications

CA3381989

rs_543710228

4 SubmittersRCV000319617 RCV000374018 RCV000730900 RCV002520294

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 SubmittersRCV000270907 RCV000326000 RCV001298354 RCV002244837 RCV002523497 RCV003155169

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 SubmittersRCV000307438 RCV000364528 RCV001577125

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
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
HSD17B4-related disorder

Criteria Provided
Conflicting Classifications

CA3382336

rs_758045328

5 SubmittersRCV000324422 RCV000379389 RCV000608795 RCV000977055 RCV004530414

NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)

SNV
Germline

Chr5:119456323

Pathogenic/Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Inborn genetic diseases
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA3381653

rs_765702241

5 SubmittersRCV000411032 RCV001861399 RCV002523882 RCV005033921

NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)

SNV
Germline

Chr5:119493820

Pathogenic

Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16040964

rs_969485098

7 SubmittersRCV000409273 RCV000815715 RCV001840499 RCV005033919

NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter)

SNV
Germline

Chr5:119496546

Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16040965

rs_1057516269

3 SubmittersRCV000410643 RCV005044606

NM_000414.4(HSD17B4):c.1574-1G>A

SNV
Germline

Chr5:119525916

Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA3382331

rs_755412738

3 SubmittersRCV000411356 RCV001865269 RCV005044613

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 SubmittersRCV000493335 RCV000671323 RCV001856978 RCV002282178 RCV004541543 RCV005001988

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 SubmittersRCV000590157 RCV000763126 RCV001220352 RCV002260650 RCV002530904 RCV003987613

NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His)

SNV
Germline

Chr5:119527137

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
HSD17B4-related disorder

Criteria Provided
Conflicting Classifications

CA3382364

rs_35281104

6 SubmittersRCV000595870 RCV002532637 RCV002532638 RCV005034172 RCV004543384

NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)

SNV
Germline

Chr5:119525229

Pathogenic/Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360869059

rs_1554068136

6 SubmittersRCV000670512 RCV003767986 RCV005034257

NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)

SNV
Germline

Chr5:119536545

Pathogenic/Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA3382508

rs_771510541

3 SubmittersRCV000671728 RCV001644761

NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp)

SNV
Germline

Chr5:119493829

Conflicting classifications of pathogenicity

Condition: not provided
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
not specified
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Conflicting Classifications

CA3381978

rs_771780974

4 SubmittersRCV000676077 RCV001855620 RCV003235343 RCV005034281

NM_000414.4(HSD17B4):c.1210-11C>G

SNV
Germline

Chr5:119502030

Conflicting classifications of pathogenicity

Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Conflicting Classifications

CA3382130

rs_779466683

5 SubmittersRCV000676080 RCV001250119 RCV003317335

NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys)

SNV
Germline

Chr5:119525968

Conflicting classifications of pathogenicity

Condition: not provided
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Inborn genetic diseases
HSD17B4-related disorder
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Conflicting Classifications

CA3382341

rs_546653967

7 SubmittersRCV000728776 RCV001458298 RCV003353008 RCV004540039 RCV005392332

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

CA3382046

rs_779198396

3 SubmittersRCV000732993 RCV001155976 RCV001155977 RCV001401487

NM_000414.4(HSD17B4):c.1929G>A (p.Val643=)

SNV
Germline

Chr5:119531340

Conflicting classifications of pathogenicity

Condition: not provided
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
HSD17B4-related disorder

Criteria Provided
Conflicting Classifications

CA3382465

rs_148189286

4 SubmittersRCV000762156 RCV001089341 RCV001157788 RCV001157789 RCV004540086

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

CA389490807

rs_1169927428

2 SubmittersRCV000855453 RCV001824882

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
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA125855311

rs_1038744864

9 SubmittersRCV000023153 RCV000811384 RCV001260323 RCV001556667 RCV002538095 RCV005047098

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
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
HSD17B4-related disorder

Criteria Provided
Conflicting Classifications

CA3381896

rs_536487449

5 SubmittersRCV000841012 RCV001157567 RCV001157568 RCV002536126 RCV004538156

NM_000414.3(HSD17B4):c.-119C>G

SNV
Germline

Chr5:119452457

Conflicting classifications of pathogenicity

Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Conflicting Classifications

CA125914992

rs_11739468

1 SubmittersRCV001152002 RCV001152003

NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=)

SNV
Germline

Chr5:119506819

Conflicting classifications of pathogenicity

Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Conflicting Classifications

CA3382168

rs_764406724

2 SubmittersRCV001152210 RCV001157691 RCV002070846

NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)

SNV
Germline

Chr5:119527135

Conflicting classifications of pathogenicity

Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Conflicting Classifications

CA446036710

rs_1239645507

2 SubmittersRCV001156099 RCV001156100 RCV002558357

NM_000414.4(HSD17B4):c.112+11G>A

SNV
Germline

Chr5:119456379

Conflicting classifications of pathogenicity

Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome

Criteria Provided
Conflicting Classifications

CA3381669

rs_775970480

2 SubmittersRCV001153265 RCV001153266 RCV003769733

NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)

SNV
Germline

Chr5:119489221

Pathogenic/Likely pathogenic

Perrault syndrome 1
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA360866929

rs_1749878115

3 SubmittersRCV001645023 RCV002546240 RCV003469556

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

CA360872780

rs_1755036404

2 SubmittersRCV001332424 RCV004035740

NM_000414.4(HSD17B4):c.1333+1G>C

SNV
Germline

Chr5:119506890

Likely pathogenic

Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360868649

rs_1369305726

2 SubmittersRCV001726506

NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr5:119477488

Pathogenic

Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360865322

rs_2126696915

2 SubmittersRCV001389499 RCV002246377

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

CA3382304

rs_764300456

2 SubmittersRCV001387757 RCV001810508

NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=)

SNV
Germline

Chr5:119527219

Likely pathogenic

Perrault syndrome 1

Criteria Provided
Single Submitter

CA446036758

rs_142527052

1 SubmittersRCV001728013

NM_000414.4(HSD17B4):c.349+4A>G

SNV
Germline

Chr5:119475874

Conflicting classifications of pathogenicity

Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Conflicting Classifications

CA2573052397

rs_2126690458

2 SubmittersRCV001797027 RCV006258654

NM_000138.5(FBN1):c.1867T>A (p.Cys623Ser)

SNV
Germline

Chr15:48505118

Likely pathogenic

Perrault syndrome 1

Criteria Provided
Single Submitter

CA392339149

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

CA360866121

rs_2126702600

1 SubmittersRCV001806366

NM_000414.4(HSD17B4):c.1262-1G>A

SNV
Germline

Chr5:119506817

Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360868492

rs_2126806430

2 SubmittersRCV002011764 RCV005032110

NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe)

SNV
Germline

Chr5:119499459

Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360868161

rs_1198548214

2 SubmittersRCV002022920 RCV004732495

NM_000414.4(HSD17B4):c.58+1G>T

SNV
Germline

Chr5:119452634

Pathogenic/Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA360861755

rs_1260517680

3 SubmittersRCV001959091 RCV003464326 RCV005032025

NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe)

SNV
Germline

Chr5:119478931

Pathogenic

Perrault syndrome 1

Criteria Provided
Single Submitter

CA360866267

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

CA360864585

rs_1026521515

1 SubmittersRCV002306493

NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)

SNV
Unknown

Chr5:119525940

Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Single Submitter

CA360869246

rs_2531911970

1 SubmittersRCV002308315

NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)

SNV
Unknown

Chr5:119525948

Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Single Submitter

CA360869264

rs_2531912089

1 SubmittersRCV002310476

NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)

SNV
Germline

Chr5:119478994

Conflicting classifications of pathogenicity

Perrault syndrome
Bifunctional peroxisomal enzyme deficiency
not specified
Condition: not provided
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Bifunctional peroxisomal enzyme deficiency

Criteria Provided
Conflicting Classifications

CA3381885

rs_781288160

5 SubmittersRCV002903774 RCV003324053 RCV003317625 RCV004784076 RCV005034463

NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)

SNV
Germline

Chr5:119502045

Likely pathogenic

Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360868379

rs_2531759797