"Baylor Genetics"[submitter] AND "PEX1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677634	NM_000466.3(PEX1):c.3716dup (p.His1240fs)	GATAD1, PEX1 (H1032fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 188981	NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)	GATAD1, PEX1 (Q1174fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 2677603	NM_000466.3(PEX1):c.3695C>G (p.Ser1232Ter)	PEX1, GATAD1 (S1024* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677610	NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)	GATAD1, PEX1 (Q1023* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 3240075	NM_000466.3(PEX1):c.3657_3658del (p.Gln1219fs)	GATAD1, PEX1 (Q1011fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 1903562	NM_000466.3(PEX1):c.3637-1G>A	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +1 more	GLikely pathogenic
Select item 1453236	NM_000466.3(PEX1):c.3622del (p.Arg1208fs)	GATAD1, PEX1 (R1208fs +2 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 371698	NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)	GATAD1, PEX1 (Q1192* +2 more)	Single nucleotide variant (nonsense)	PEX1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 813402	NM_000466.3(PEX1):c.3573del (p.Glu1191fs)	GATAD1, PEX1 (E1134fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 2677623	NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)	GATAD1, PEX1 (L1120fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic
Select item 2677617	NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)	GATAD1, PEX1 (Q1112* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 2677632	NM_000466.3(PEX1):c.3488del (p.Gly1163fs)	GATAD1, PEX1 (G1106fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 371774	NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)	GATAD1, PEX1 (S1152fs +2 more)	Microsatellite (frameshift variant)	Zellweger spectrum disorders +4 more	GPathogenic/Likely pathogenic
Select item 1070573	NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter)	GATAD1, PEX1 (C1093* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +1 more	GPathogenic
Select item 2677638	NM_000466.3(PEX1):c.3439-1G>T	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1	GLikely pathogenic
Select item 360915	NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	GATAD1, PEX1 (M1125L +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 3240077	NM_000466.3(PEX1):c.3336del (p.Met1113fs)	GATAD1, PEX1 (M1056fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 817583	NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)	GATAD1, PEX1	Deletion (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 287046	NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)	GATAD1, PEX1 (C1045fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 1726581	NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)	GATAD1, PEX1 (F1029fs +2 more)	Microsatellite (frameshift variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 3240076	NM_000466.3(PEX1):c.3235dup (p.Leu1079fs)	GATAD1, PEX1 (L1022fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 371765	NM_000466.3(PEX1):c.3208-1G>A	PEX1, GATAD1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 1066589	NM_000466.3(PEX1):c.3207+1G>C	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 561079	NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)	GATAD1, PEX1 (Q1069* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +2 more	GPathogenic
Select item 928943	NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)	GATAD1, PEX1 (G1061fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +2 more	GPathogenic
Select item 2677631	NM_000466.3(PEX1):c.3169G>T (p.Glu1057Ter)	GATAD1, PEX1 (E1000* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 591802	NM_000466.3(PEX1):c.3115del (p.Thr1039fs)	GATAD1, PEX1 (T831fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 1946654	NM_000466.3(PEX1):c.3094dup (p.Leu1032fs)	GATAD1, PEX1 (L1032fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 553776	NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	PEX1, GATAD1 (L1026P +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +4 more	GConflicting classifications of pathogenicity
Select item 861041	NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs)	GATAD1, PEX1 (L967fs +2 more)	Microsatellite (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 551650	NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)	GATAD1, PEX1 (R1013H +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 1069047	NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)	GATAD1, PEX1 (R1013C +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 2134256	NM_000466.3(PEX1):c.3031-1G>A	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +1 more	GLikely pathogenic
Select item 2677604	NM_000466.3(PEX1):c.3030+1del	GATAD1, PEX1	Deletion (splice donor variant)	Heimler syndrome 1	GLikely pathogenic
Select item 495880	NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	GATAD1, PEX1 (R998* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 224325	NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	GATAD1, PEX1 (I989T +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +6 more	GPathogenic/Likely pathogenic
Select item 371784	NM_000466.3(PEX1):c.2927-2A>G	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GLikely pathogenic
Select item 189002	NM_000466.3(PEX1):c.2926+2T>C	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 188729	NM_000466.3(PEX1):c.2926+1G>A	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +6 more	GPathogenic/Likely pathogenic
Select item 189043	NM_000466.3(PEX1):c.2916del (p.Gly973fs)	GATAD1, PEX1 (G973fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +6 more	GPathogenic/Likely pathogenic
Select item 1065420	NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs)	GATAD1, PEX1 (D750fs +2 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 371716	NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)	GATAD1, PEX1 (R959* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 371706	NM_000466.3(PEX1):c.2859dup (p.Thr954fs)	GATAD1, PEX1 (T746fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 556176	NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)	GATAD1, PEX1 (R949Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 580960	NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)	GATAD1, PEX1 (R949W +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 2677641	NM_000466.3(PEX1):c.2835_2841del (p.Ala946fs)	GATAD1, PEX1 (A738fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 371720	NM_000466.3(PEX1):c.2798dup (p.Pro934fs)	GATAD1, PEX1 (P934fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 2085739	NM_000466.3(PEX1):c.2784-1G>C	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1 +1 more	GLikely pathogenic
Select item 2677630	NM_000466.3(PEX1):c.2770del (p.Asp924fs)	PEX1 (D716fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 188971	NM_000466.3(PEX1):c.2730del (p.Leu910fs)	PEX1 (L702fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 552936	NM_000466.3(PEX1):c.2719-2A>G	PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +2 more	GLikely pathogenic
Select item 3240078	NM_000466.3(PEX1):c.2693_2705del (p.Ser898fs)	PEX1 (S690fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 1074539	NM_000466.3(PEX1):c.2692_2693del (p.Glu897_Ser898insTer)	PEX1	Microsatellite (nonsense)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 371721	NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)	PEX1 (R896* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 1303054	NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser)	PEX1 (L671S +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 265395	NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)	PEX1 (R872* +2 more)	Single nucleotide variant (nonsense)	See cases +7 more	GPathogenic
Select item 2677633	NM_000466.3(PEX1):c.2592dup (p.Leu865fs)	PEX1 (L657fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 7516	NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	PEX1 (G843D +2 more)	Single nucleotide variant (missense variant)	not specified +10 more	GPathogenic
Select item 557248	NM_000466.3(PEX1):c.2489dup (p.Asn830fs)	PEX1 (N773fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 937534	NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)	PEX1 (R619* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +1 more	GPathogenic
Select item 1451905	NM_000466.3(PEX1):c.2464_2477dup (p.Leu826fs)	PEX1 (L618fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic
Select item 1210451	NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter)	PEX1 (Q607* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 3240070	NM_000466.3(PEX1):c.2417-2A>G	PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677620	NM_000466.3(PEX1):c.2392C>G (p.Arg798Gly)	PEX1 (R590G +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1	GLikely pathogenic
Select item 188851	NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)	PEX1 (R798fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder +3 more	GPathogenic/Likely pathogenic
Select item 188873	NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	PEX1 (R795* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 632939	NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)	PEX1 (R790* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +2 more	GPathogenic
Select item 2677645	NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)	PEX1 (Q562* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 1034228	NM_000466.3(PEX1):c.2235A>T (p.Arg745Ser)	PEX1 (R537S +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1	GUncertain significance
Select item 93104	NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)	PEX1 (Q744* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 3240074	NM_000466.3(PEX1):c.2210_2213del (p.Ile737fs)	PEX1 (I529fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677624	NM_000466.3(PEX1):c.2162_2164delinsAA (p.Leu721_Leu722delinsTer)	PEX1	Indel (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 3240068	NM_000466.3(PEX1):c.2148del (p.Gln716fs)	PEX1 (Q508fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 371699	NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)	PEX1 (Q713* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 7519	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	PEX1 (I643fs +2 more)	Duplication (frameshift variant)	not provided +8 more	GPathogenic
Select item 3240072	NM_000466.3(PEX1):c.2090_2091del (p.Lys697fs)	PEX1 (K489fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 813403	NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)	PEX1 (M487fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic
Select item 844661	NM_000466.3(PEX1):c.2072-42_2085del	PEX1	Deletion (splice acceptor variant)	Zellweger spectrum disorders +1 more	GLikely pathogenic
Select item 2677613	NM_000466.3(PEX1):c.2079del (p.Asn693fs)	PEX1 (N485fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677625	NM_000466.3(PEX1):c.2072-1G>C	PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1	GLikely pathogenic
Select item 928942	NM_000466.3(PEX1):c.2071+1G>T	PEX1	Single nucleotide variant (intron variant +1 more)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 1034227	NM_000466.3(PEX1):c.2059C>T (p.Arg687Trp)	PEX1 (R479W +1 more)	Single nucleotide variant (missense variant +1 more)	Zellweger spectrum disorders +2 more	GUncertain significance
Select item 1403359	NM_000466.3(PEX1):c.2039del (p.Pro680fs)	PEX1 (P680fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 2174078	NM_000466.3(PEX1):c.2001dup (p.Ala668fs)	PEX1 (A460fs +1 more)	Duplication (frameshift variant +1 more)	Heimler syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 7517	NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	PEX1 (L664P +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1B +4 more	GLikely pathogenic
Select item 93102	NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)	PEX1	Duplication (inframe_insertion +1 more)	Peroxisome biogenesis disorder +5 more	GConflicting classifications of pathogenicity
Select item 558710	NM_000466.3(PEX1):c.1927dup (p.Thr643fs)	PEX1 (T643fs +1 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 3240071	NM_000466.3(PEX1):c.1906del (p.Arg636fs)	PEX1 (R428fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 1	GLikely pathogenic
Select item 550841	NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)	PEX1 (R633* +1 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 1458579	NM_000466.3(PEX1):c.1891del (p.Ala631fs)	PEX1 (A423fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 554241	NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)	PEX1	Deletion (nonsense)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 371703	NM_000466.3(PEX1):c.1842del (p.Glu615fs)	PEX1 (E407fs +1 more)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 2677637	NM_000466.3(PEX1):c.1804G>T (p.Gly602Ter)	PEX1 (G394* +1 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677622	NM_000466.3(PEX1):c.1786_1787del (p.Leu596fs)	PEX1 (L388fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677643	NM_000466.3(PEX1):c.1777G>T (p.Gly593Ter)	PEX1 (G385* +1 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 549945	NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)	PEX1 (G593R +1 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +2 more	GConflicting classifications of pathogenicity
Select item 217429	NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	PEX1 (R581P +1 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 2677619	NM_000466.3(PEX1):c.1728_1735delinsCTGTGA (p.Arg577fs)	PEX1 (R369fs +1 more)	Indel (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 830063	NM_000466.3(PEX1):c.1727dup (p.Arg577fs)	PEX1 (R577fs +1 more)	Duplication (frameshift variant)	Heimler syndrome 1 +2 more	GPathogenic
Select item 188984	NM_000466.3(PEX1):c.1716_1717del (p.His572fs)	PEX1 (H364fs +1 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic

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