ClinVar for MedGen (Select 137982) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25766071.	NM_000414.4(HSD17B4):c.53G>T (p.Gly18Val) GRCh37: Chr5:118788323 GRCh38: Chr5:119452628	HSD17B4	G18V	Bifunctional peroxisomal enzyme deficiency	Uncertain significance (May 3, 2023)	criteria provided, single submitter
Select item 25007452.	NM_000414.4(HSD17B4):c.31dup (p.Val11fs) GRCh37: Chr5:118788298-118788299 GRCh38: Chr5:119452603-119452604	HSD17B4	V11fs	Bifunctional peroxisomal enzyme deficiency	Pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 24459533.	NM_000414.4(HSD17B4):c.623-2A>G GRCh37: Chr5:118824885 GRCh38: Chr5:119489190	HSD17B4		Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Feb 24, 2023)	criteria provided, single submitter
Select item 24457384.	NM_000414.4(HSD17B4):c.1768-1G>A GRCh37: Chr5:118865588 GRCh38: Chr5:119529893	HSD17B4		Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Feb 7, 2023)	criteria provided, single submitter
Select item 24281045.	NM_000414.4(HSD17B4):c.1352A>G (p.Lys451Arg) GRCh37: Chr5:118844854 GRCh38: Chr5:119509159	HSD17B4	K304R, K311R, K314R, K342R, K427R, K433R, K448R, K451R, K476R	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 24230456.	NC_000005.9:g.(?_118809583)_(118877689_?)dup GRCh37: Chr5:118809583-118877689	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 24230447.	NC_000005.9:g.(?_118811381)_(118814736_?)del GRCh37: Chr5:118811381-118814736	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Dec 6, 2019)	criteria provided, single submitter
Select item 24230438.	NC_000005.9:g.(?_118827775)_(118837807_?)del GRCh37: Chr5:118827775-118837807	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Pathogenic (May 17, 2022)	criteria provided, single submitter
Select item 24230429.	NC_000005.9:g.(?_118877580)_(118877689_?)del GRCh37: Chr5:118877580-118877689	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 242304110.	NC_000005.9:g.(?_118837726)_(118837797_?)del GRCh37: Chr5:118837726-118837797	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Pathogenic (Nov 1, 2021)	criteria provided, single submitter
Select item 242007611.	NM_000414.4(HSD17B4):c.1370A>G (p.Asn457Ser) GRCh37: Chr5:118844872 GRCh38: Chr5:119509177	HSD17B4	N310S, N317S, N320S, N348S, N433S, N439S, N454S, N457S, N482S	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 241713412.	NM_000414.4(HSD17B4):c.739+7C>A GRCh37: Chr5:118827826 GRCh38: Chr5:119492131	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 241712913.	NM_000414.4(HSD17B4):c.350-10A>G GRCh37: Chr5:118813102 GRCh38: Chr5:119477407	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 241690514.	NM_000414.4(HSD17B4):c.251A>G (p.Lys84Arg) GRCh37: Chr5:118810126 GRCh38: Chr5:119474431	HSD17B4	K109R, K60R, K66R, K84R	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 241651215.	NM_000414.4(HSD17B4):c.1994-9T>G GRCh37: Chr5:118872109 GRCh38: Chr5:119536414	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 220260316.	NM_000414.4(HSD17B4):c.1070A>T (p.Asp357Val) GRCh37: Chr5:118835109 GRCh38: Chr5:119499414	HSD17B4	D217V, D357V, D210V, D248V, D354V, D382V, D220V, D333V, D339V	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 220217717.	NM_000414.4(HSD17B4):c.1333+7T>G GRCh37: Chr5:118842591 GRCh38: Chr5:119506896	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 220214618.	NM_000414.4(HSD17B4):c.373C>T (p.Arg125Trp) GRCh37: Chr5:118813135 GRCh38: Chr5:119477440	HSD17B4	R101W, R125W, R16W, R107W, R150W	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Inborn genetic diseases	Uncertain significance (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220090019.	NM_000414.4(HSD17B4):c.1180A>G (p.Ile394Val) GRCh37: Chr5:118835219 GRCh38: Chr5:119499524	HSD17B4	I254V, I257V, I391V, I394V, I376V, I419V, I247V, I285V, I370V	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 220034620.	NM_000414.4(HSD17B4):c.623-8dup GRCh37: Chr5:118824876-118824877 GRCh38: Chr5:119489181-119489182	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 220030821.	NM_000414.4(HSD17B4):c.316C>T (p.Arg106Cys) GRCh37: Chr5:118811532 GRCh38: Chr5:119475837	HSD17B4	R106C, R88C, R82C, R131C	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 219947322.	NM_000414.4(HSD17B4):c.1854+14A>C GRCh37: Chr5:118865689 GRCh38: Chr5:119529994	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 219893523.	NM_000414.4(HSD17B4):c.1901G>A (p.Arg634His) GRCh37: Chr5:118867007 GRCh38: Chr5:119531312	HSD17B4	R487H, R494H, R497H, R525H, R616H, R659H, R631H, R610H, R634H	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 219709124.	NM_000414.4(HSD17B4):c.868+15C>T GRCh37: Chr5:118829656 GRCh38: Chr5:119493961	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 219000125.	NM_000414.4(HSD17B4):c.1361T>A (p.Ile454Lys) GRCh37: Chr5:118844863 GRCh38: Chr5:119509168	HSD17B4	I307K, I430K, I314K, I454K, I479K, I317K, I436K, I345K, I451K	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 218652926.	NM_000414.4(HSD17B4):c.936T>C (p.His312=) GRCh37: Chr5:118832305 GRCh38: Chr5:119496610	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 218294227.	NM_000414.4(HSD17B4):c.1573+8G>A GRCh37: Chr5:118860988 GRCh38: Chr5:119525293	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 218252828.	NM_000414.4(HSD17B4):c.1958A>G (p.His653Arg) GRCh37: Chr5:118867064 GRCh38: Chr5:119531369	HSD17B4	H544R, H629R, H506R, H513R, H635R, H678R, H516R, H650R, H653R	not provided, Inborn genetic diseases, Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Apr 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218242829.	NM_000414.4(HSD17B4):c.793A>G (p.Thr265Ala) GRCh37: Chr5:118829566 GRCh38: Chr5:119493871	HSD17B4	T128A, T241A, T265A, T125A, T247A, T262A, T118A, T156A, T290A	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 218241130.	NM_000414.4(HSD17B4):c.381A>G (p.Ser127=) GRCh37: Chr5:118813143 GRCh38: Chr5:119477448	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 218074731.	NM_000414.4(HSD17B4):c.714+10C>G GRCh37: Chr5:118824988 GRCh38: Chr5:119489293	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 218068632.	NM_000414.4(HSD17B4):c.1504-11T>C GRCh37: Chr5:118860900 GRCh38: Chr5:119525205	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 218000433.	NM_000414.4(HSD17B4):c.868+16G>A GRCh37: Chr5:118829657 GRCh38: Chr5:119493962	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 217972634.	NM_000414.4(HSD17B4):c.2045G>A (p.Gly682Asp) GRCh37: Chr5:118872169 GRCh38: Chr5:119536474	HSD17B4	G679D, G542D, G658D, G535D, G545D, G664D, G682D, G707D, G573D	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 217969835.	NM_000414.4(HSD17B4):c.1261+8A>G GRCh37: Chr5:118837795 GRCh38: Chr5:119502100	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 217956936.	NM_000414.4(HSD17B4):c.813T>C (p.Ala271=) GRCh37: Chr5:118829586 GRCh38: Chr5:119493891	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 217667037.	NM_000414.4(HSD17B4):c.1690_1691delinsCT (p.Ala564Leu) GRCh37: Chr5:118862837-118862838 GRCh38: Chr5:119527142-119527143	HSD17B4	A455L, A540L, A546L, A417L, A427L, A561L, A589L, A424L, A564L	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 217433638.	NM_000414.4(HSD17B4):c.755C>T (p.Thr252Ile) GRCh37: Chr5:118829528 GRCh38: Chr5:119493833	HSD17B4	T105I, T115I, T277I, T228I, T252I, T112I, T143I, T234I, T249I	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 217427639.	NM_000414.4(HSD17B4):c.1067A>G (p.Lys356Arg) GRCh37: Chr5:118835106 GRCh38: Chr5:119499411	HSD17B4	K216R, K338R, K353R, K219R, K247R, K381R, K209R, K332R, K356R	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 217161440.	NM_000414.4(HSD17B4):c.303-7T>G GRCh37: Chr5:118811512 GRCh38: Chr5:119475817	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 217038041.	NM_000414.4(HSD17B4):c.33G>T (p.Val11=) GRCh37: Chr5:118788303 GRCh38: Chr5:119452608	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 216997642.	NM_000414.4(HSD17B4):c.1490C>A (p.Thr497Asn) GRCh37: Chr5:118850728 GRCh38: Chr5:119515033	HSD17B4	T357N, T473N, T350N, T479N, T497N, T360N, T388N, T522N, T494N	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 216957743.	NM_000414.4(HSD17B4):c.2121+19C>A GRCh37: Chr5:118872264 GRCh38: Chr5:119536569	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 216767644.	NM_000414.4(HSD17B4):c.934C>T (p.His312Tyr) GRCh37: Chr5:118832303 GRCh38: Chr5:119496608	HSD17B4	H165Y, H175Y, H172Y, H288Y, H294Y, H312Y, H337Y, H309Y, H203Y	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 216684345.	NM_000414.4(HSD17B4):c.1804T>C (p.Tyr602His) GRCh37: Chr5:118865625 GRCh38: Chr5:119529930	HSD17B4	Y455H, Y602H, Y627H, Y462H, Y493H, Y578H, Y599H, Y584H, Y465H	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 216312746.	NM_000414.4(HSD17B4):c.1037T>C (p.Met346Thr) GRCh37: Chr5:118835076 GRCh38: Chr5:119499381	HSD17B4	M209T, M343T, M237T, M199T, M328T, M206T, M322T, M346T, M371T	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 216297647.	NM_000414.4(HSD17B4):c.1122G>A (p.Leu374=) GRCh37: Chr5:118835161 GRCh38: Chr5:119499466	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 216107148.	NM_000414.4(HSD17B4):c.1885G>C (p.Glu629Gln) GRCh37: Chr5:118866991 GRCh38: Chr5:119531296	HSD17B4	E611Q, E489Q, E520Q, E629Q, E654Q, E482Q, E492Q, E605Q, E626Q	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome, Inborn genetic diseases	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216030849.	NM_000414.4(HSD17B4):c.1574-16T>G GRCh37: Chr5:118861596 GRCh38: Chr5:119525901	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 215937750.	NM_000414.4(HSD17B4):c.596G>A (p.Arg199Gln) GRCh37: Chr5:118814690 GRCh38: Chr5:119478995	HSD17B4	R90Q, R175Q, R181Q, R224Q, R59Q, R199Q, R52Q, R62Q, R196Q	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 215843851.	NM_000414.4(HSD17B4):c.1805A>G (p.Tyr602Cys) GRCh37: Chr5:118865626 GRCh38: Chr5:119529931	HSD17B4	Y462C, Y578C, Y465C, Y493C, Y584C, Y602C, Y455C, Y599C, Y627C	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 215809452.	NM_000414.4(HSD17B4):c.2032G>A (p.Gly678Ser) GRCh37: Chr5:118872156 GRCh38: Chr5:119536461	HSD17B4	G538S, G675S, G654S, G541S, G569S, G678S, G703S, G531S, G660S	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 215570453.	NM_000414.4(HSD17B4):c.1670A>C (p.Lys557Thr) GRCh37: Chr5:118861708 GRCh38: Chr5:119526013	HSD17B4	K410T, K554T, K582T, K420T, K533T, K417T, K448T, K539T, K557T	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 215325854.	NM_000414.4(HSD17B4):c.658C>T (p.Pro220Ser) GRCh37: Chr5:118824922 GRCh38: Chr5:119489227	HSD17B4	P202S, P80S, P196S, P111S, P220S, P245S, P217S, P73S, P83S	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 215267655.	NM_000414.4(HSD17B4):c.280+4A>T GRCh37: Chr5:118810159 GRCh38: Chr5:119474464	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 215175856.	NM_000414.4(HSD17B4):c.550A>G (p.Lys184Glu) GRCh37: Chr5:118814644 GRCh38: Chr5:119478949	HSD17B4	K166E, K37E, K47E, K75E, K209E, K160E, K181E, K184E, K44E	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency, Inborn genetic diseases	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215172257.	NM_000414.4(HSD17B4):c.1209+5G>T GRCh37: Chr5:118835253 GRCh38: Chr5:119499558	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 215098758.	NM_000414.4(HSD17B4):c.740-4C>T GRCh37: Chr5:118829509 GRCh38: Chr5:119493814	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 215009659.	NM_000414.4(HSD17B4):c.1422A>T (p.Thr474=) GRCh37: Chr5:118844924 GRCh38: Chr5:119509229	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 214930660.	NM_000414.4(HSD17B4):c.622+17A>G GRCh37: Chr5:118814733 GRCh38: Chr5:119479038	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 214847261.	NM_000414.4(HSD17B4):c.1240T>C (p.Tyr414His) GRCh37: Chr5:118837766 GRCh38: Chr5:119502071	HSD17B4	Y267H, Y396H, Y411H, Y277H, Y274H, Y305H, Y390H, Y414H, Y439H	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 214680862.	NM_000414.4(HSD17B4):c.1725T>G (p.Thr575=) GRCh37: Chr5:118862872 GRCh38: Chr5:119527177	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 214204563.	NM_000414.4(HSD17B4):c.774A>G (p.Arg258=) GRCh37: Chr5:118829547 GRCh38: Chr5:119493852	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 214201664.	NM_000414.4(HSD17B4):c.67C>G (p.Arg23Gly) GRCh37: Chr5:118792018 GRCh38: Chr5:119456323	HSD17B4	R23G, P26R	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 214009165.	NM_000414.4(HSD17B4):c.59-3T>G GRCh37: Chr5:118792007 GRCh38: Chr5:119456312	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 213997666.	NM_000414.4(HSD17B4):c.922G>A (p.Val308Ile) GRCh37: Chr5:118832291 GRCh38: Chr5:119496596	HSD17B4	V161I, V308I, V333I, V168I, V171I, V199I, V290I, V305I, V284I	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 213961267.	NM_000414.4(HSD17B4):c.350-17A>C GRCh37: Chr5:118813095 GRCh38: Chr5:119477400	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 213940768.	NM_000414.4(HSD17B4):c.272G>A (p.Gly91Glu) GRCh37: Chr5:118810147 GRCh38: Chr5:119474452	HSD17B4	G67E, G116E, G91E, G73E	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213632069.	NM_000414.4(HSD17B4):c.1042G>A (p.Ala348Thr) GRCh37: Chr5:118835081 GRCh38: Chr5:119499386	HSD17B4	A208T, A373T, A201T, A345T, A324T, A348T, A211T, A239T, A330T	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 213495370.	NM_000414.4(HSD17B4):c.561dup (p.His188fs) GRCh37: Chr5:118814653-118814654 GRCh38: Chr5:119478958-119478959	HSD17B4	H164fs, H185fs, H48fs, H79fs, H213fs, H51fs, H170fs, H41fs, H188fs	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Pathogenic (May 7, 2022)	criteria provided, single submitter
Select item 213024471.	NM_000414.4(HSD17B4):c.1366C>G (p.His456Asp) GRCh37: Chr5:118844868 GRCh38: Chr5:119509173	HSD17B4	H347D, H456D, H453D, H309D, H319D, H438D, H432D, H481D, H316D	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 213021572.	NM_000414.4(HSD17B4):c.350-1G>T GRCh37: Chr5:118813111 GRCh38: Chr5:119477416	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 212540873.	NM_000414.4(HSD17B4):c.505T>C (p.Leu169=) GRCh37: Chr5:118814599 GRCh38: Chr5:119478904	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212486374.	NM_000414.4(HSD17B4):c.1334-12_1334-9del GRCh37: Chr5:118844820-118844823 GRCh38: Chr5:119509125-119509128	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 212474275.	NM_000414.4(HSD17B4):c.868+18C>G GRCh37: Chr5:118829659 GRCh38: Chr5:119493964	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 212446476.	NM_000414.4(HSD17B4):c.1482A>G (p.Thr494=) GRCh37: Chr5:118850720 GRCh38: Chr5:119515025	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 211598477.	NM_000414.4(HSD17B4):c.1426_1429del (p.Asp476fs) GRCh37: Chr5:118844926-118844929 GRCh38: Chr5:119509231-119509234	HSD17B4	D473fs, D339fs, D367fs, D452fs, D458fs, D501fs, D336fs, D476fs, D329fs	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 211308078.	NM_000414.4(HSD17B4):c.784C>G (p.His262Asp) GRCh37: Chr5:118829557 GRCh38: Chr5:119493862	HSD17B4	H262D, H125D, H153D, H238D, H259D, H115D, H122D, H244D, H287D	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 211307379.	NM_000414.4(HSD17B4):c.1994-5C>G GRCh37: Chr5:118872113 GRCh38: Chr5:119536418	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 211271980.	NM_000414.4(HSD17B4):c.198T>G (p.Gly66=) GRCh37: Chr5:118809688 GRCh38: Chr5:119473993	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211123581.	NM_000414.4(HSD17B4):c.1496T>G (p.Leu499Arg) GRCh37: Chr5:118850734 GRCh38: Chr5:119515039	HSD17B4	L352R, L390R, L481R, L359R, L362R, L496R, L524R, L475R, L499R	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 210981782.	NM_000414.4(HSD17B4):c.147T>C (p.Gly49=) GRCh37: Chr5:118809637 GRCh38: Chr5:119473942	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 210878183.	NM_000414.4(HSD17B4):c.795T>C (p.Thr265=) GRCh37: Chr5:118829568 GRCh38: Chr5:119493873	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210797484.	NM_000414.4(HSD17B4):c.739+6TC[3] GRCh37: Chr5:118827825-118827826 GRCh38: Chr5:119492130-119492131	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 210727285.	NM_000414.4(HSD17B4):c.1267T>C (p.Leu423=) GRCh37: Chr5:118842518 GRCh38: Chr5:119506823	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 210149886.	NM_000414.4(HSD17B4):c.58+11_58+35del GRCh37: Chr5:118788336-118788360 GRCh38: Chr5:119452641-119452665	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 210091287.	NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter) GRCh37: Chr5:118835207 GRCh38: Chr5:119499512	HSD17B4	G243, G250, G415, G387, G281, G366, G390, G253, G372*	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 209798088.	NM_000414.4(HSD17B4):c.868+9A>G GRCh37: Chr5:118829650 GRCh38: Chr5:119493955	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 209696389.	NM_000414.4(HSD17B4):c.1424C>T (p.Ser475Leu) GRCh37: Chr5:118844926 GRCh38: Chr5:119509231	HSD17B4	S328L, S338L, S451L, S457L, S366L, S472L, S335L, S475L, S500L	Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 209594290.	NM_000414.4(HSD17B4):c.259C>T (p.Leu87=) GRCh37: Chr5:118810134 GRCh38: Chr5:119474439	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 209307091.	NM_000414.4(HSD17B4):c.622+20T>G GRCh37: Chr5:118814736 GRCh38: Chr5:119479041	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 209238392.	NM_000414.4(HSD17B4):c.739+1G>T GRCh37: Chr5:118827820 GRCh38: Chr5:119492125	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 208809793.	NM_000414.4(HSD17B4):c.637C>T (p.Leu213=) GRCh37: Chr5:118824901 GRCh38: Chr5:119489206	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 208753194.	NM_000414.4(HSD17B4):c.868+11T>G GRCh37: Chr5:118829652 GRCh38: Chr5:119493957	HSD17B4		Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 208514095.	NM_000414.4(HSD17B4):c.2135G>A (p.Gly712Asp) GRCh37: Chr5:118877613 GRCh38: Chr5:119541918	HSD17B4	G572D, G712D, G737D, G603D, G694D, G565D, G575D, G709D, G688D	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 207765896.	NM_000414.4(HSD17B4):c.1181T>C (p.Ile394Thr) GRCh37: Chr5:118835220 GRCh38: Chr5:119499525	HSD17B4	I391T, I257T, I370T, I394T, I419T, I254T, I376T, I247T, I285T	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 207633597.	NM_000414.4(HSD17B4):c.1818A>T (p.Ala606=) GRCh37: Chr5:118865639 GRCh38: Chr5:119529944	HSD17B4		Bifunctional peroxisomal enzyme deficiency, Perrault syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 207394298.	NM_000414.4(HSD17B4):c.1681G>T (p.Ala561Ser) GRCh37: Chr5:118862828 GRCh38: Chr5:119527133	HSD17B4	A543S, A452S, A537S, A561S, A421S, A424S, A586S, A414S, A558S	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Sep 7, 2021)	criteria provided, single submitter
Select item 207043599.	NM_000414.4(HSD17B4):c.2011G>C (p.Gly671Arg) GRCh37: Chr5:118872135 GRCh38: Chr5:119536440	HSD17B4	G524R, G531R, G562R, G668R, G647R, G671R, G534R, G653R, G696R	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 2067511100.	NM_000414.4(HSD17B4):c.200G>A (p.Gly67Glu) GRCh37: Chr5:118809690 GRCh38: Chr5:119473995	HSD17B4	G67E, G92E, G43E, G49E	Perrault syndrome, Bifunctional peroxisomal enzyme deficiency	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter

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