ClinVar for MedGen (Select 1640257) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25797491.	NM_006012.4(CLPP):c.383_399dup (p.Asp134fs) GRCh37: Chr19:6364477-6364478 GRCh38: Chr19:6364466-6364467	CLPP	D134fs	Perrault syndrome 1	Pathogenic (Sep 19, 2023)	criteria provided, single submitter
Select item 17269652.	NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs) GRCh37: Chr5:118842579-118842580 GRCh38: Chr5:119506884-119506885	HSD17B4	M296fs, M303fs, M306fs, M334fs, M419fs, M425fs, M440fs, M443fs, M468fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17268153.	NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs) GRCh37: Chr5:118809669 GRCh38: Chr5:119473974	HSD17B4	E36fs, E42fs, E60fs, E85fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17267924.	NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter) GRCh37: Chr5:118861643 GRCh38: Chr5:119525948	HSD17B4	C388, C395, C398, C426, C511, C517, C532, C535, C560*	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17267085.	NM_000414.4(HSD17B4):c.358del (p.His120fs) GRCh37: Chr5:118813119 GRCh38: Chr5:119477424	HSD17B4	H102fs, H11fs, H120fs, H145fs, H96fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 17260336.	NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs) GRCh37: Chr5:118832316-118832317 GRCh38: Chr5:119496621-119496622	HSD17B4	A169fs, A176fs, A179fs, A207fs, A292fs, A298fs, A313fs, A316fs, A341fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (May 8, 2022)	criteria provided, single submitter
Select item 17260227.	NM_000414.4(HSD17B4):c.1001del (p.Pro334fs) GRCh37: Chr5:118835039 GRCh38: Chr5:119499344	HSD17B4	P187fs, P194fs, P197fs, P225fs, P310fs, P316fs, P331fs, P334fs, P359fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 17259828.	NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer) GRCh37: Chr5:118835060-118835061 GRCh38: Chr5:119499365-119499366	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 17259439.	NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs) GRCh37: Chr5:118835125-118835128 GRCh38: Chr5:119499430-119499433	HSD17B4	I217fs, I224fs, I227fs, I255fs, I340fs, I346fs, I361fs, I364fs, I389fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 172591210.	NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs) GRCh37: Chr5:118809657 GRCh38: Chr5:119473962	HSD17B4	D32fs, D38fs, D56fs, D81fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 172556411.	NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs) GRCh37: Chr5:118837757-118837758 GRCh38: Chr5:119502062-119502063	HSD17B4	L264fs, L271fs, L274fs, L302fs, L387fs, L393fs, L408fs, L411fs, L436fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172554412.	NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs) GRCh37: Chr5:118813132-118813138 GRCh38: Chr5:119477437-119477443	HSD17B4	L100fs, L106fs, L124fs, L149fs, L15fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172553013.	NM_000414.4(HSD17B4):c.1488del (p.Thr497fs) GRCh37: Chr5:118850725 GRCh38: Chr5:119515030	HSD17B4	T350fs, T357fs, T360fs, T388fs, T473fs, T479fs, T494fs, T497fs, T522fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 172552914.	NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs) GRCh37: Chr5:118824902-118824903 GRCh38: Chr5:119489207-119489208	HSD17B4	L104fs, L189fs, L195fs, L210fs, L213fs, L238fs, L66fs, L73fs, L76fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 172525615.	NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter) GRCh37: Chr5:118861635 GRCh38: Chr5:119525940	HSD17B4	G386, G393, G396, G424, G509, G515, G530, G533, G558*	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172509616.	NM_000414.4(HSD17B4):c.1660_1661del (p.Ser554fs) GRCh37: Chr5:118861698-118861699 GRCh38: Chr5:119526003-119526004	HSD17B4	S407fs, S414fs, S417fs, S445fs, S530fs, S536fs, S551fs, S554fs, S579fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 172480817.	NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs) GRCh37: Chr5:118835174-118835175 GRCh38: Chr5:119499479-119499480	HSD17B4	V232fs, V239fs, V242fs, V270fs, V355fs, V361fs, V376fs, V379fs, V404fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 172480118.	NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs) GRCh37: Chr5:118850710-118850711 GRCh38: Chr5:119515015-119515016	HSD17B4	A344fs, A351fs, A354fs, A382fs, A467fs, A473fs, A488fs, A491fs, A516fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 172465019.	NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs) GRCh37: Chr5:118850687-118850689 GRCh38: Chr5:119514992-119514994	HSD17B4	I337fs, I344fs, I347fs, I375fs, I460fs, I466fs, I481fs, I484fs, I509fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 172448920.	NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs) GRCh37: Chr5:118850734-118850735 GRCh38: Chr5:119515039-119515040	HSD17B4	L352fs, L359fs, L362fs, L390fs, L475fs, L481fs, L496fs, L499fs, L524fs	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172420721.	NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs) GRCh37: Chr5:118824903-118824912 GRCh38: Chr5:119489208-119489217	HSD17B4	K105fs, K190fs, K196fs, K211fs, K214fs, K239fs, K67fs, K74fs, K77fs	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 172420622.	NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs) GRCh37: Chr5:118824889-118824895 GRCh38: Chr5:119489194-119489200	HSD17B4	L100fs, L185fs, L191fs, L206fs, L209fs, L234fs, L62fs, L69fs, L72fs	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 172420423.	NM_000414.4(HSD17B4):c.652_656del (p.Val218fs) GRCh37: Chr5:118824916-118824920 GRCh38: Chr5:119489221-119489225	HSD17B4	V109fs, V194fs, V200fs, V215fs, V218fs, V243fs, V71fs, V78fs, V81fs	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 172413224.	NM_000414.4(HSD17B4):c.290del (p.Val97fs) GRCh37: Chr5:118811410 GRCh38: Chr5:119475715	HSD17B4	S4fs, V122fs, V73fs, V79fs, V97fs	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Likely pathogenic (Nov 5, 2021)	criteria provided, single submitter
Select item 172393825.	NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter) GRCh37: Chr5:118810116 GRCh38: Chr5:119474421	HSD17B4	K106, K57, K63, K81	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Likely pathogenic (Jan 14, 2022)	criteria provided, single submitter
Select item 168588626.	NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe) GRCh37: Chr5:118814626 GRCh38: Chr5:119478931	HSD17B4	L154F, L160F, L175F, L178F, L203F, L31F, L38F, L41F, L69F	Perrault syndrome 1	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 146012627.	NM_000414.4(HSD17B4):c.698dup (p.Asn233fs) GRCh37: Chr5:118824960-118824961 GRCh38: Chr5:119489265-119489266	HSD17B4	N209fs, N93fs, N96fs, N230fs, N233fs, N258fs, N124fs, N215fs, N86fs	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Pathogenic/Likely pathogenic (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144867928.	NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln) GRCh37: Chr5:118792019 GRCh38: Chr5:119456324	HSD17B4	R23Q	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133279229.	NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His) GRCh37: Chr5:118814560 GRCh38: Chr5:119478865	HSD17B4	Y132H, Y138H, Y153H, Y156H, Y16H, Y181H, Y19H, Y47H, Y9H	Perrault syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 133275730.	NM_000138.5(FBN1):c.1867T>A (p.Cys623Ser) GRCh37: Chr15:48797315 GRCh38: Chr15:48505118	FBN1	C623S	Perrault syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 133275531.	NM_000138.5:c.(1468+1_1469-1)_(1837+1_1838-1)del	FBN1		Perrault syndrome 1	Pathogenic	criteria provided, single submitter
Select item 132946932.	NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys) GRCh37: Chr5:118835055 GRCh38: Chr5:119499360	HSD17B4	Y192C, Y199C, Y202C, Y230C, Y315C, Y321C, Y336C, Y339C, Y364C	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Uncertain significance (Jul 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132946833.	NM_000414.4(HSD17B4):c.835T>G (p.Phe279Val) GRCh37: Chr5:118829608 GRCh38: Chr5:119493913	HSD17B4	F132V, F139V, F142V, F170V, F255V, F261V, F276V, F279V, F304V	Perrault syndrome 1	Uncertain significance (Jul 29, 2021)	criteria provided, single submitter
Select item 132854334.	NM_000414.4(HSD17B4):c.349+4A>G GRCh37: Chr5:118811569 GRCh38: Chr5:119475874	HSD17B4		Perrault syndrome 1	Uncertain significance (May 21, 2021)	criteria provided, single submitter
Select item 132854235.	NM_000414.4(HSD17B4):c.74A>G (p.Tyr25Cys) GRCh37: Chr5:118792025 GRCh38: Chr5:119456330	HSD17B4	Y25C	Perrault syndrome 1	Uncertain significance (May 21, 2021)	criteria provided, single submitter
Select item 130184536.	NM_000414.4(HSD17B4):c.1767+4T>C GRCh37: Chr5:118862918 GRCh38: Chr5:119527223	HSD17B4		Inborn genetic diseases, Perrault syndrome 1	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129931437.	NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=) GRCh37: Chr5:118862914 GRCh38: Chr5:119527219	HSD17B4		Perrault syndrome 1	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 129204738.	NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser) GRCh37: Chr14:35649943 GRCh38: Chr14:35180737	PRORP, PRORP-PSMA6	N317S, N396S, N40S, N412S	Inborn genetic diseases	Uncertain significance (Feb 16, 2023)	criteria provided, single submitter
Select item 119931539.	NM_000414.4(HSD17B4):c.1876T>G (p.Phe626Val) GRCh37: Chr5:118866982 GRCh38: Chr5:119531287	HSD17B4	F479V, F486V, F489V, F517V, F602V, F608V, F623V, F626V, F651V	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 118527240.	NM_000414.4(HSD17B4):c.1261+47A>G GRCh37: Chr5:118837834 GRCh38: Chr5:119502139	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118527141.	NM_000414.4(HSD17B4):c.1210-78T>C GRCh37: Chr5:118837658 GRCh38: Chr5:119501963	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118527042.	NM_000414.4(HSD17B4):c.434+120A>G GRCh37: Chr5:118813316 GRCh38: Chr5:119477621	HSD17B4		Perrault syndrome 1, not provided, Bifunctional peroxisomal enzyme deficiency	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118526943.	NM_000414.4(HSD17B4):c.434+44T>C GRCh37: Chr5:118813240 GRCh38: Chr5:119477545	HSD17B4		Perrault syndrome 1, not provided, Bifunctional peroxisomal enzyme deficiency	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118515144.	NM_000414.4(HSD17B4):c.1993+74G>C GRCh37: Chr5:118867173 GRCh38: Chr5:119531478	HSD17B4		Perrault syndrome 1, not provided, Bifunctional peroxisomal enzyme deficiency	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118515045.	NM_000414.4(HSD17B4):c.1767+57C>T GRCh37: Chr5:118862971 GRCh38: Chr5:119527276	HSD17B4		Perrault syndrome 1, not provided, Bifunctional peroxisomal enzyme deficiency	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117947946.	NM_000414.4(HSD17B4):c.2122-34C>T GRCh37: Chr5:118877566 GRCh38: Chr5:119541871	HSD17B4		Perrault syndrome 1, not provided, Bifunctional peroxisomal enzyme deficiency	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107580247.	NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) GRCh37: Chr5:118813183 GRCh38: Chr5:119477488	HSD17B4	Q117, Q123, Q141, Q166, Q32, Q4	Perrault syndrome 1, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, not provided	Pathogenic/Likely pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107445448.	NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr) GRCh37: Chr5:118860944 GRCh38: Chr5:119525249	HSD17B4	P366T, P373T, P376T, P404T, P489T, P495T, P510T, P513T, P538T	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Conflicting interpretations of pathogenicity (Apr 7, 2022)	criteria provided, conflicting interpretations
Select item 106460149.	NM_000414.4(HSD17B4):c.1333+1G>C GRCh37: Chr5:118842585 GRCh38: Chr5:119506890	HSD17B4		Perrault syndrome 1	Likely pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102741250.	NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) GRCh37: Chr5:118824916 GRCh38: Chr5:119489221	HSD17B4	V109L, V194L, V200L, V215L, V218L, V243L, V71L, V78L, V81L	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Perrault syndrome 1	Pathogenic/Likely pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90773751.	NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr) GRCh37: Chr5:118867040 GRCh38: Chr5:119531345	HSD17B4	K505T, K621T, K645T, K498T, K508T, K536T, K642T, K627T, K670T	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90760452.	NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr) GRCh37: Chr5:118824907 GRCh38: Chr5:119489212	HSD17B4	P106T, P212T, P240T, P68T, P75T, P191T, P215T, P197T, P78T	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, not provided, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Nov 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90760353.	NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro) GRCh37: Chr5:118814576 GRCh38: Chr5:119478881	HSD17B4	Q186P, Q24P, Q52P, Q137P, Q14P, Q158P, Q161P, Q143P, Q21P	not provided, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Dec 24, 2019)	criteria provided, multiple submitters, no conflicts
Select item 90672854.	NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=) GRCh37: Chr5:118862830 GRCh38: Chr5:119527135	HSD17B4		Perrault syndrome 1, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency	Conflicting interpretations of pathogenicity (Mar 12, 2022)	criteria provided, conflicting interpretations
Select item 90658455.	NM_000414.4(HSD17B4):c.388G>A (p.Val130Met) GRCh37: Chr5:118813150 GRCh38: Chr5:119477455	HSD17B4	V106M, V130M, V112M, V21M, V155M	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90520756.	NM_000414.4(HSD17B4):c.*123A>G GRCh37: Chr5:118877812 GRCh38: Chr5:119542117	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90506457.	NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro) GRCh37: Chr5:118829617 GRCh38: Chr5:119493922	HSD17B4	A145P, A173P, A279P, A135P, A258P, A264P, A142P, A282P, A307P	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90499958.	NM_000414.4(HSD17B4):c.112+11G>A GRCh37: Chr5:118792074 GRCh38: Chr5:119456379	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90440859.	NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp) GRCh37: Chr5:118872157 GRCh38: Chr5:119536462	HSD17B4	G703D, G538D, G569D, G654D, G660D, G675D, G531D, G541D, G678D	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90434660.	NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=) GRCh37: Chr5:118842514 GRCh38: Chr5:119506819	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Conflicting interpretations of pathogenicity (Dec 2, 2021)	criteria provided, conflicting interpretations
Select item 90427261.	NM_000414.4(HSD17B4):c.790A>G (p.Met264Val) GRCh37: Chr5:118829563 GRCh38: Chr5:119493868	HSD17B4	M117V, M155V, M240V, M289V, M264V, M124V, M127V, M246V, M261V	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90421562.	NM_000414.4(HSD17B4):c.-75C>A GRCh37: Chr5:118788196 GRCh38: Chr5:119452501	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90421463.	NM_000414.3(HSD17B4):c.-119C>G GRCh37: Chr5:118788152 GRCh38: Chr5:119452457	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 90421364.	NM_000414.3(HSD17B4):c.-130C>T GRCh37: Chr5:118788141 GRCh38: Chr5:119452446	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 68116065.	NM_000414.4(HSD17B4):c.622+5G>A GRCh37: Chr5:118814721 GRCh38: Chr5:119479026	HSD17B4		Bifunctional peroxisomal enzyme deficiency, HSD17B4-related condition, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, not provided	Conflicting interpretations of pathogenicity (Aug 7, 2023)	criteria provided, conflicting interpretations
Select item 65525666.	NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) GRCh37: Chr5:118862851 GRCh38: Chr5:119527156	HSD17B4	Y428, Y544, Y593, Y550, Y568*	not provided, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63820867.	NM_014672.4(PRORP):c.1454C>T (p.Ala485Val) GRCh37: Chr14:35739636 GRCh38: Chr14:35270430	PRORP, PRORP-PSMA6	A485V, A113V, A469V, A390V	Combined oxidative phosphorylation deficiency 54, Perrault syndrome 1	Pathogenic/Likely pathogenic (Feb 8, 2022)	no assertion criteria provided
Select item 63285768.	NM_000414.4(HSD17B4):c.868+1del GRCh37: Chr5:118829641 GRCh38: Chr5:119493946	HSD17B4		HSD17B4-related condition, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Pathogenic/Likely pathogenic (Jan 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 62405869.	NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) GRCh37: Chr5:118867035 GRCh38: Chr5:119531340	HSD17B4		not provided, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 59700270.	NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) GRCh37: Chr5:118832320 GRCh38: Chr5:119496625	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, not provided, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Conflicting interpretations of pathogenicity (Apr 9, 2022)	criteria provided, conflicting interpretations
Select item 59549071.	NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) GRCh37: Chr5:118835033 GRCh38: Chr5:119499338	HSD17B4	L332F, L192F, L357F, L308F, L314F	Inborn genetic diseases, not provided, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59473772.	NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) GRCh37: Chr5:118810105 GRCh38: Chr5:119474410	HSD17B4	E77G, E59G, E102G, E53G	Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, not provided, Perrault syndrome 1	Uncertain significance (Sep 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55907173.	NM_000414.4(HSD17B4):c.1210-11C>G GRCh37: Chr5:118837725 GRCh38: Chr5:119502030	HSD17B4		Bifunctional peroxisomal enzyme deficiency, not provided	Conflicting interpretations of pathogenicity (Jun 12, 2023)	criteria provided, conflicting interpretations
Select item 55906774.	NM_000414.4(HSD17B4):c.739+23T>C GRCh37: Chr5:118827842 GRCh38: Chr5:119492147	HSD17B4		not provided, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55583075.	NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter) GRCh37: Chr5:118872240 GRCh38: Chr5:119536545	HSD17B4	Q706, Q682, Q566, Q688, Q731*	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Conflicting interpretations of pathogenicity (Jan 4, 2021)	criteria provided, conflicting interpretations
Select item 52292976.	NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) GRCh37: Chr5:118837739 GRCh38: Chr5:119502044	HSD17B4	L405F, L430F, L387F, L265F, L381F	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Inborn genetic diseases, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50530777.	NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) GRCh37: Chr5:118866964 GRCh38: Chr5:119531269	HSD17B4	G620R, G645R, G480R, G596R, G602R	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, not specified, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, not provided	Uncertain significance (Nov 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 50477478.	NM_000414.4(HSD17B4):c.1261+14A>G GRCh37: Chr5:118837801 GRCh38: Chr5:119502106	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, not specified, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50402379.	NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) GRCh37: Chr5:118832304-118832305 GRCh38: Chr5:119496609-119496610	HSD17B4		HSD17B4-related condition, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, not provided, Bifunctional peroxisomal enzyme deficiency	Pathogenic/Likely pathogenic (May 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 49586680.	NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) GRCh37: Chr5:118860923 GRCh38: Chr5:119525228	HSD17B4	R506C, R366C, R488C, R531C, R482C	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Inborn genetic diseases, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, not provided, Bifunctional peroxisomal enzyme deficiency	Pathogenic/Likely pathogenic (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37115081.	NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs) GRCh37: Chr5:118842549-118842552 GRCh38: Chr5:119506854-119506857	HSD17B4	D410fs, D416fs, D434fs, D459fs, D294fs	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35047782.	NM_000414.4(HSD17B4):c.*278T>A GRCh37: Chr5:118877967 GRCh38: Chr5:119542272	HSD17B4		not provided, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Conflicting interpretations of pathogenicity (Feb 9, 2019)	criteria provided, conflicting interpretations
Select item 35047683.	NM_000414.4(HSD17B4):c.*260A>G GRCh37: Chr5:118877949 GRCh38: Chr5:119542254	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, not provided	Benign (Sep 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35047384.	NM_000414.4(HSD17B4):c.*135T>G GRCh37: Chr5:118877824 GRCh38: Chr5:119542129	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 35047285.	NM_000414.4(HSD17B4):c.*134C>T GRCh37: Chr5:118877823 GRCh38: Chr5:119542128	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35047186.	NM_000414.4(HSD17B4):c.*83T>G GRCh37: Chr5:118877772 GRCh38: Chr5:119542077	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35047087.	NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) GRCh37: Chr5:118872149 GRCh38: Chr5:119536454	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Conflicting interpretations of pathogenicity (Apr 11, 2022)	criteria provided, conflicting interpretations
Select item 35046988.	NM_000414.4(HSD17B4):c.1854+7T>C GRCh37: Chr5:118865682 GRCh38: Chr5:119529987	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35046889.	NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) GRCh37: Chr5:118861666 GRCh38: Chr5:119525971	HSD17B4	R543H, R403H, R525H, R519H, R568H	Inborn genetic diseases, not specified, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 24, 2023)	criteria provided, conflicting interpretations
Select item 35046790.	NM_000414.4(HSD17B4):c.1596T>C (p.His532=) GRCh37: Chr5:118861634 GRCh38: Chr5:119525939	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, not specified, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Conflicting interpretations of pathogenicity (May 12, 2022)	criteria provided, conflicting interpretations
Select item 35046691.	NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) GRCh37: Chr5:118844859 GRCh38: Chr5:119509164	HSD17B4	L453F, L435F, L478F, L313F, L429F	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35046592.	NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) GRCh37: Chr5:118835170 GRCh38: Chr5:119499475	HSD17B4		Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 35046493.	NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) GRCh37: Chr5:118832312 GRCh38: Chr5:119496617	HSD17B4	R315C, R297C, R340C, R175C, R291C	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35046394.	NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) GRCh37: Chr5:118829584 GRCh38: Chr5:119493889	HSD17B4	A271T, A253T, A131T, A247T, A296T	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 35046295.	NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) GRCh37: Chr5:118827798 GRCh38: Chr5:119492103	HSD17B4	G240R, G100R, G222R, G265R, G216R	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35046196.	NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) GRCh37: Chr5:118810143 GRCh38: Chr5:119474448	HSD17B4	F90L, F66L, F72L, F115L	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35046097.	NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp) GRCh37: Chr5:118809651 GRCh38: Chr5:119473956	HSD17B4	A54D, A36D, A79D, A30D	Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35045998.	NM_000414.4(HSD17B4):c.-27G>C GRCh37: Chr5:118788244 GRCh38: Chr5:119452549	HSD17B4		Perrault syndrome 1, not provided, Bifunctional peroxisomal enzyme deficiency	Benign/Likely benign (Dec 17, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35045899.	NM_000414.4(HSD17B4):c.-28C>T GRCh37: Chr5:118788243 GRCh38: Chr5:119452548	HSD17B4		Perrault syndrome 1, not provided, Bifunctional peroxisomal enzyme deficiency	Benign/Likely benign (Jun 8, 2018)	criteria provided, multiple submitters, no conflicts
Select item 350457100.	NM_000414.4(HSD17B4):c.-75C>G GRCh37: Chr5:118788196 GRCh38: Chr5:119452501	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts

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