ClinVar for MedGen (Select 1648474) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25016861.	NM_000466.3(PEX1):c.2719-1G>T GRCh37: Chr7:92126092 GRCh38: Chr7:92496778	PEX1		Peroxisome biogenesis disorder 1A (Zellweger)	Pathogenic (May 9, 2023)	criteria provided, single submitter
Select item 24996242.	NM_000466.3(PEX1):c.1961_1962insCAGTGTGAA (p.Met654delinsIleSerValLys) GRCh37: Chr7:92134155-92134156 GRCh38: Chr7:92504841-92504842	PEX1		Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Feb 10, 2023)	criteria provided, single submitter
Select item 24996233.	NM_000466.3(PEX1):c.484C>A (p.Pro162Thr) GRCh37: Chr7:92147345 GRCh38: Chr7:92518031	PEX1	P162T	Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Feb 10, 2023)	criteria provided, single submitter
Select item 18786294.	NM_003630.3(PEX3):c.190A>C (p.Thr64Pro) GRCh37: Chr6:143780338 GRCh38: Chr6:143459201	PEX3	T64P	Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance	criteria provided, single submitter
Select item 17269685.	NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter) GRCh37: Chr7:92136310 GRCh38: Chr7:92506996	PEX1	K393, K601	Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17268746.	NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter) GRCh37: Chr7:92135586 GRCh38: Chr7:92506272	PEX1	R418, R626	Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17267807.	NM_000466.3(PEX1):c.716C>G (p.Ser239Ter) GRCh37: Chr7:92147113 GRCh38: Chr7:92517799	PEX1	S239, S31	Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17267538.	NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs) GRCh37: Chr7:92132368-92132369 GRCh38: Chr7:92503054-92503055	PEX1	Q530fs, Q681fs, Q738fs	Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 17266179.	NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter) GRCh37: Chr7:92141014 GRCh38: Chr7:92511700	PEX1	K247, K455	Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B	Likely pathogenic (Dec 28, 2021)	criteria provided, single submitter
Select item 172659410.	NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter) GRCh37: Chr7:92140353 GRCh38: Chr7:92511039	PEX1	E290, E498	Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B	Likely pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 172658111.	NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs) GRCh37: Chr7:92120763-92120766 GRCh38: Chr7:92491449-92491452	GATAD1, PEX1	F1029fs, F1086fs, F878fs	Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B	Likely pathogenic (Dec 26, 2021)	criteria provided, single submitter
Select item 172654512.	NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter) GRCh37: Chr7:92120713 GRCh38: Chr7:92491399	GATAD1, PEX1	L1047, L1104, L896*	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Dec 20, 2021)	criteria provided, single submitter
Select item 172654313.	NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter) GRCh37: Chr7:92135645 GRCh38: Chr7:92506331	PEX1	S398, S606	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 172651414.	NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs) GRCh37: Chr7:92147318-92147319 GRCh38: Chr7:92518004-92518005	PEX1	T171fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172645515.	NM_000466.3(PEX1):c.205C>T (p.Gln69Ter) GRCh37: Chr7:92151484 GRCh38: Chr7:92522170	PEX1	Q69*	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 6, 2022)	criteria provided, single submitter
Select item 172644916.	NM_000466.3(PEX1):c.1321del (p.Ile441fs) GRCh37: Chr7:92143200 GRCh38: Chr7:92513886	PEX1	I233fs, I441fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172641617.	NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter) GRCh37: Chr7:92132382 GRCh38: Chr7:92503068	PEX1	C525, C676, C733*	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172640918.	NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter) GRCh37: Chr7:92146655 GRCh38: Chr7:92517341	PEX1	E184, E392	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172636019.	NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter) GRCh37: Chr7:92120726 GRCh38: Chr7:92491412	GATAD1, PEX1	G1043, G1100, G892*	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172633420.	NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs) GRCh37: Chr7:92147071-92147072 GRCh38: Chr7:92517757-92517758	PEX1	F253fs, F45fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172626521.	NM_000466.3(PEX1):c.1611del (p.Glu538fs) GRCh37: Chr7:92138702 GRCh38: Chr7:92509388	PEX1	E330fs, E538fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Dec 10, 2021)	criteria provided, single submitter
Select item 172617122.	NM_000466.3(PEX1):c.2849dup (p.His951fs) GRCh37: Chr7:92123877-92123878 GRCh38: Chr7:92494563-92494564	GATAD1, PEX1	H743fs, H894fs, H951fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172616823.	NM_000466.3(PEX1):c.2770dup (p.Asp924fs) GRCh37: Chr7:92126039-92126040 GRCh38: Chr7:92496725-92496726	PEX1	D716fs, D867fs, D924fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172613724.	NM_000466.3(PEX1):c.1815dup (p.Ser606fs) GRCh37: Chr7:92135646-92135647 GRCh38: Chr7:92506332-92506333	PEX1	S398fs, S606fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172612825.	NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs) GRCh37: Chr7:92136414-92136415 GRCh38: Chr7:92507100-92507101	PEX1	S358fs, S566fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172607526.	NM_000466.3(PEX1):c.66dup (p.Asn23fs) GRCh37: Chr7:92157683-92157684 GRCh38: Chr7:92528369-92528370	PEX1	N23fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172598127.	NM_000466.3(PEX1):c.659C>A (p.Ser220Ter) GRCh37: Chr7:92147170 GRCh38: Chr7:92517856	PEX1	S12, S220	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172591728.	NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter) GRCh37: Chr7:92123840 GRCh38: Chr7:92494526	GATAD1, PEX1	Q755, Q906, Q963*	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 172587929.	NM_000466.3(PEX1):c.3308del (p.Gly1103fs) GRCh37: Chr7:92120716 GRCh38: Chr7:92491402	GATAD1, PEX1	G1046fs, G1103fs, G895fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 172583230.	NM_000466.3(PEX1):c.175_176del (p.Ser59fs) GRCh37: Chr7:92151513-92151514 GRCh38: Chr7:92522199-92522200	PEX1	S59fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Apr 2, 2022)	criteria provided, single submitter
Select item 172557531.	NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs) GRCh37: Chr7:92147199-92147200 GRCh38: Chr7:92517885-92517886	PEX1	M210fs, M2fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172530532.	NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer) GRCh37: Chr7:92147316-92147317 GRCh38: Chr7:92518002-92518003	PEX1		Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172527733.	NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs) GRCh37: Chr7:92122430-92122431 GRCh38: Chr7:92493116-92493117	GATAD1, PEX1	E1015fs, E807fs, E958fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172525334.	NM_000466.3(PEX1):c.1895del (p.Leu632fs) GRCh37: Chr7:92135567 GRCh38: Chr7:92506253	PEX1	L424fs, L632fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172510135.	NM_000466.3(PEX1):c.3003del (p.Lys1001fs) GRCh37: Chr7:92123634 GRCh38: Chr7:92494320	GATAD1, PEX1	K1001fs, K793fs, K944fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 172509836.	NM_000466.3(PEX1):c.1552_1553delinsA (p.Leu518fs) GRCh37: Chr7:92140292-92140293 GRCh38: Chr7:92510978-92510979	PEX1	L310fs, L518fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 172509037.	NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter) GRCh37: Chr7:92135622 GRCh38: Chr7:92506308	PEX1	K406, K614	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 172508638.	NM_000466.3(PEX1):c.253G>T (p.Gly85Ter) GRCh37: Chr7:92151436 GRCh38: Chr7:92522122	PEX1	G85*	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 172504939.	NM_000466.3(PEX1):c.532_533del (p.Gln178fs) GRCh37: Chr7:92147296-92147297 GRCh38: Chr7:92517982-92517983	PEX1	Q178fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 6, 2022)	criteria provided, single submitter
Select item 172503840.	NM_000466.3(PEX1):c.496del (p.Tyr166fs) GRCh37: Chr7:92147333 GRCh38: Chr7:92518019	PEX1	Y166fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 172501941.	NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter) GRCh37: Chr7:92131387 GRCh38: Chr7:92502073	PEX1	R537, R688, R745*	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 172496042.	NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs) GRCh37: Chr7:92120754-92120755 GRCh38: Chr7:92491440-92491441	GATAD1, PEX1	S1034fs, S1091fs, S883fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172494543.	NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter) GRCh37: Chr7:92119219 GRCh38: Chr7:92489905	GATAD1, PEX1	Q1092, Q1149, Q941*	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172470544.	NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs) GRCh37: Chr7:92136341-92136342 GRCh38: Chr7:92507027-92507028	PEX1	L382fs, L590fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172459845.	NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs) GRCh37: Chr7:92131265-92131267 GRCh38: Chr7:92501951-92501953	PEX1	T577fs, T728fs, T785fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 172458746.	NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs) GRCh37: Chr7:92132438-92132439 GRCh38: Chr7:92503124-92503125	PEX1	Q507fs, Q658fs, Q715fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 172444447.	NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs) GRCh37: Chr7:92135639-92135640 GRCh38: Chr7:92506325-92506326	PEX1	L400fs, L608fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172444148.	NM_000466.3(PEX1):c.3422del (p.Gly1141fs) GRCh37: Chr7:92120602 GRCh38: Chr7:92491288	GATAD1, PEX1	G1084fs, G1141fs, G933fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172443349.	NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs) GRCh37: Chr7:92141002-92141003 GRCh38: Chr7:92511688-92511689	PEX1	S250fs, S458fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172426150.	NM_000466.3(PEX1):c.805_806del (p.Glu269fs) GRCh37: Chr7:92147023-92147024 GRCh38: Chr7:92517709-92517710	PEX1	E269fs, E61fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172407851.	NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter) GRCh37: Chr7:92146730 GRCh38: Chr7:92517416	PEX1	Q159, Q367	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 172395752.	NM_000466.3(PEX1):c.2932dup (p.Tyr978fs) GRCh37: Chr7:92123704-92123705 GRCh38: Chr7:92494390-92494391	GATAD1, PEX1	Y770fs, Y921fs, Y978fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 172394553.	NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs) GRCh37: Chr7:92131339-92131340 GRCh38: Chr7:92502025-92502026	PEX1	I553fs, I704fs, I761fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Nov 2, 2021)	criteria provided, single submitter
Select item 172391654.	NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs) GRCh37: Chr7:92140908-92140909 GRCh38: Chr7:92511594-92511595	PEX1	L282fs, L490fs	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Jan 8, 2022)	criteria provided, single submitter
Select item 149520555.	NM_000466.3(PEX1):c.357+1G>T GRCh37: Chr7:92148308 GRCh38: Chr7:92518994	PEX1		Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1	Likely pathogenic (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145787856.	NM_000466.3(PEX1):c.831_834del (p.Ser278fs) GRCh37: Chr7:92146995-92146998 GRCh38: Chr7:92517681-92517684	PEX1	S70fs, S278fs	Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)	Pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145323657.	NM_000466.3(PEX1):c.3622del (p.Arg1208fs) GRCh37: Chr7:92119042 GRCh38: Chr7:92489728	GATAD1, PEX1	R1208fs, R1000fs, R1151fs	Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1	Pathogenic/Likely pathogenic (Dec 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145152158.	NM_000466.3(PEX1):c.56_80del (p.Val19fs) GRCh37: Chr7:92157670-92157694 GRCh38: Chr7:92528356-92528380	PEX1	V19fs	Zellweger spectrum disorders, Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder	Pathogenic/Likely pathogenic (Dec 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125207259.	NM_000466.3(PEX1):c.3568C>T (p.Gln1190Ter) GRCh37: Chr7:92119096 GRCh38: Chr7:92489782	GATAD1, PEX1	Q1133, Q1190, Q982*	Peroxisome biogenesis disorder 1A (Zellweger)	Pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 125207160.	NM_000466.3(PEX1):c.1240_1359del (p.Ile414_Leu453del) GRCh37: Chr7:92143162-92143281 GRCh38: Chr7:92513848-92513967	PEX1		Peroxisome biogenesis disorder 1A (Zellweger)	Pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 121045361.	NM_000466.3(PEX1):c.1890del (p.Ala631fs) GRCh37: Chr7:92135572 GRCh38: Chr7:92506258	PEX1	A423fs, A631fs	Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 121045262.	NM_000466.3(PEX1):c.1533del (p.Asp512fs) GRCh37: Chr7:92140312 GRCh38: Chr7:92510998	PEX1	D304fs, D512fs	Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 121045163.	NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter) GRCh37: Chr7:92130961 GRCh38: Chr7:92501647	PEX1	Q607, Q758, Q815*	Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 120965564.	NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile) GRCh37: Chr7:92120803 GRCh38: Chr7:92491489	PEX1, GATAD1	S1017I, S1074I, S866I	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120965465.	NM_000466.3(PEX1):c.1716C>A (p.His572Gln) GRCh37: Chr7:92136395 GRCh38: Chr7:92507081	PEX1	H364Q, H572Q	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120963866.	NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr) GRCh37: Chr7:92132482 GRCh38: Chr7:92503168	PEX1	I492T, I643T, I700T	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120963767.	NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala) GRCh37: Chr7:92119092 GRCh38: Chr7:92489778	GATAD1, PEX1	E1134A, E1191A, E983A	Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120963668.	NM_000466.3(PEX1):c.927C>G (p.His309Gln) GRCh37: Chr7:92146902 GRCh38: Chr7:92517588	PEX1	H101Q, H309Q	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120963569.	NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp) GRCh37: Chr7:92136423 GRCh38: Chr7:92507109	PEX1	G355D, G563D	Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 117703370.	NM_000466.3(PEX1):c.1484-36G>A GRCh37: Chr7:92140397 GRCh38: Chr7:92511083	PEX1		Peroxisome biogenesis disorder 1A (Zellweger), not provided	Benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117470271.	NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu) GRCh37: Chr7:92129061 GRCh38: Chr7:92499747	PEX1	G684E, G835E, G892E	Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Zellweger spectrum disorders	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115465172.	NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) GRCh37: Chr7:92122308 GRCh38: Chr7:92492994	GATAD1, PEX1		Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 115363873.	NM_000466.3(PEX1):c.2584-10T>C GRCh37: Chr7:92129162 GRCh38: Chr7:92499848	PEX1		Heimler syndrome 1, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders	Benign/Likely benign (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106542074.	NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs) GRCh37: Chr7:92123852-92123854 GRCh38: Chr7:92494538-92494540	GATAD1, PEX1	D750fs, D901fs, D958fs	Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jan 23, 2020)	criteria provided, single submitter
Select item 103691775.	NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) GRCh37: Chr7:92147108 GRCh38: Chr7:92517794	PEX1	S241P, S33P	Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B, Zellweger spectrum disorders	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 97168976.	NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) GRCh37: Chr7:92132381 GRCh38: Chr7:92503067	PEX1	V734I, V526I, V677I	Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96317877.	NM_000466.3(PEX1):c.2926+4A>G GRCh37: Chr7:92123797 GRCh38: Chr7:92494483	GATAD1, PEX1		Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91163778.	NM_000466.3(PEX1):c.952G>A (p.Asp318Asn) GRCh37: Chr7:92146877 GRCh38: Chr7:92517563	PEX1	D318N, D110N	Zellweger spectrum disorders, Inborn genetic diseases, Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91157279.	NM_000466.3(PEX1):c.2912T>C (p.Val971Ala) GRCh37: Chr7:92123815 GRCh38: Chr7:92494501	GATAD1, PEX1	V914A, V971A, V763A	Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91157180.	NM_000466.3(PEX1):c.2927-8T>C GRCh37: Chr7:92123718 GRCh38: Chr7:92494404	GATAD1, PEX1		Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)	Conflicting interpretations of pathogenicity (Mar 15, 2022)	criteria provided, conflicting interpretations
Select item 91157081.	NM_000466.3(PEX1):c.2954G>A (p.Arg985His) GRCh37: Chr7:92123683 GRCh38: Chr7:92494369	GATAD1, PEX1	R777H, R985H, R928H	Zellweger spectrum disorders, Inborn genetic diseases, Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91151382.	NM_000466.3(PEX1):c.*292G>A GRCh37: Chr7:92116479 GRCh38: Chr7:92487165	GATAD1, PEX1		Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91151283.	NM_000466.3(PEX1):c.*428A>G GRCh37: Chr7:92116343 GRCh38: Chr7:92487029	GATAD1, PEX1		Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91047184.	NM_000466.3(PEX1):c.-82C>G GRCh37: Chr7:92157831 GRCh38: Chr7:92528517	PEX1		Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91047085.	NM_000466.3(PEX1):c.-77C>G GRCh37: Chr7:92157826 GRCh38: Chr7:92528512	PEX1		Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91041486.	NM_000466.3(PEX1):c.1671-13A>G GRCh37: Chr7:92136453 GRCh38: Chr7:92507139	PEX1		Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)	Conflicting interpretations of pathogenicity (Nov 8, 2021)	criteria provided, conflicting interpretations
Select item 91036187.	NM_000466.3(PEX1):c.2995C>A (p.Leu999Ile) GRCh37: Chr7:92123642 GRCh38: Chr7:92494328	GATAD1, PEX1	L791I, L942I, L999I	Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91036088.	NM_000466.3(PEX1):c.3030+12A>G GRCh37: Chr7:92123595 GRCh38: Chr7:92494281	GATAD1, PEX1		Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91035989.	NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) GRCh37: Chr7:92122279 GRCh38: Chr7:92492965	GATAD1, PEX1		Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 90948290.	NM_000466.3(PEX1):c.1804-12A>G GRCh37: Chr7:92135670 GRCh38: Chr7:92506356	PEX1		Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)	Conflicting interpretations of pathogenicity (Aug 3, 2021)	criteria provided, conflicting interpretations
Select item 90948191.	NM_000466.3(PEX1):c.1901-14T>C GRCh37: Chr7:92134230 GRCh38: Chr7:92504916	PEX1		Heimler syndrome 1, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90948092.	NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala) GRCh37: Chr7:92134172 GRCh38: Chr7:92504858	PEX1	S441A, S649A	Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90947993.	NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) GRCh37: Chr7:92134060 GRCh38: Chr7:92504746	PEX1	Q478R, Q686R	Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B, Inborn genetic diseases, Zellweger spectrum disorders	Uncertain significance (Apr 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90947894.	NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro) GRCh37: Chr7:92131314 GRCh38: Chr7:92502000	PEX1	L561P, L712P, L769P	Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90941295.	NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly) GRCh37: Chr7:92120743 GRCh38: Chr7:92491429	GATAD1, PEX1	D1094G, D1037G, D886G	Inborn genetic diseases, Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90941196.	NM_000466.3(PEX1):c.3503A>C (p.Asp1168Ala) GRCh37: Chr7:92119161 GRCh38: Chr7:92489847	GATAD1, PEX1	D1111A, D960A, D1168A	Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90941097.	NM_000466.3(PEX1):c.3543A>G (p.Ser1181=) GRCh37: Chr7:92119121 GRCh38: Chr7:92489807	GATAD1, PEX1		Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 90940998.	NM_000466.3(PEX1):c.3637-14T>C GRCh37: Chr7:92118751 GRCh38: Chr7:92489437	GATAD1, PEX1		Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 90869099.	NM_000466.3(PEX1):c.724G>A (p.Val242Ile) GRCh37: Chr7:92147105 GRCh38: Chr7:92517791	PEX1	V242I, V34I	Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 908620100.	NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys) GRCh37: Chr7:92130949 GRCh38: Chr7:92501635	PEX1	R611C, R762C, R819C	Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Dec 19, 2021)	criteria provided, multiple submitters, no conflicts

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