PEX1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2904571	NM_000466.3(PEX1):c.2783+20T>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2096417	NM_000466.3(PEX1):c.2783+18G>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1145410	NM_000466.3(PEX1):c.2783+11T>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1086285	NM_000466.3(PEX1):c.2783+10C>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2025355	NM_000466.3(PEX1):c.2783+9C>T	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1086259	NM_000466.3(PEX1):c.2783+8G>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1078130	NM_000466.3(PEX1):c.2783+7A>T	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 638320	NM_000466.3(PEX1):c.2783+6T>C	PEX1	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1B	GUncertain significance
Select item 1040739	NM_000466.3(PEX1):c.2783+4G>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GUncertain significance
Select item 642219	NM_000466.3(PEX1):c.2783+2T>C	PEX1	Single nucleotide variant (splice donor variant)	Zellweger spectrum disorders	GLikely pathogenic
Select item 2830447	NM_000466.3(PEX1):c.2783+1del	PEX1	Deletion (splice donor variant)	Zellweger spectrum disorders	GPathogenic
Select item 2848097	NM_000466.3(PEX1):c.2772T>C (p.Asp924=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1726168	NM_000466.3(PEX1):c.2770dup (p.Asp924fs)	PEX1 (D716fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1B +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 908619	NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp)	PEX1 (R866W +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +1 more	GUncertain significance
Select item 2179488	NM_000466.3(PEX1):c.2766T>C (p.Val922=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1159593	NM_000466.3(PEX1):c.2766T>G (p.Val922=)	PEX1	Single nucleotide variant (synonymous variant)	PEX1-related disorder +1 more	GLikely benign
Select item 1483349	NM_000466.3(PEX1):c.2761G>A (p.Ala921Thr)	PEX1 (A713T +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 557750	NM_000466.3(PEX1):c.2760del (p.Ala921fs)	PEX1 (A921fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +2 more	GPathogenic/Likely pathogenic
Select item 288721	NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)	PEX1 (A917V +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 977301	NM_000466.3(PEX1):c.2744T>C (p.Ile915Thr)	PEX1 (I707T +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +5 more	GUncertain significance
Select item 972293	NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe)	PEX1 (I707F +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 1612857	NM_000466.3(PEX1):c.2742C>T (p.Tyr914=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1070990	NM_000466.3(PEX1):c.2738_2741dup (p.Tyr914Ter)	PEX1 (Y706* +2 more)	Duplication (nonsense)	Zellweger spectrum disorders	GPathogenic
Select item 188971	NM_000466.3(PEX1):c.2730del (p.Leu910fs)	PEX1 (L702fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 2420857	NM_000466.3(PEX1):c.2727G>A (p.Glu909=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1715940	NM_000466.3(PEX1):c.2726A>G (p.Glu909Gly)	PEX1 (E701G +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 559083	NM_000466.3(PEX1):c.2724dup (p.Glu909fs)	PEX1 (E852fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 371747	NM_000466.3(PEX1):c.2723del (p.Pro908fs)	PEX1 (P908fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 2990358	NM_000466.3(PEX1):c.2721G>A (p.Gly907=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2501686	NM_000466.3(PEX1):c.2719-1G>T	PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GPathogenic
Select item 1346570	NM_000466.3(PEX1):c.2719-1G>A	PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders	GLikely pathogenic
Select item 552936	NM_000466.3(PEX1):c.2719-2A>G	PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1 +2 more	GLikely pathogenic
Select item 1347754	NM_000466.3(PEX1):c.2719-3T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GUncertain significance
Select item 2140171	NM_000466.3(PEX1):c.2719-4A>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +1 more	GUncertain significance
Select item 2026481	NM_000466.3(PEX1):c.2719-5A>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1573172	NM_000466.3(PEX1):c.2719-6C>T	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1644271	NM_000466.3(PEX1):c.2719-14dup	PEX1	Duplication (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2117193	NM_000466.3(PEX1):c.2719-15dup	PEX1	Duplication (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1642960	NM_000466.3(PEX1):c.2719-17C>T	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2766659	NM_000466.3(PEX1):c.2719-18T>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1556459	NM_000466.3(PEX1):c.2719-18del	PEX1	Deletion (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1553940	NM_000466.3(PEX1):c.2719-18T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1582423	NM_000466.3(PEX1):c.2719-19C>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1295781	NM_000466.3(PEX1):c.2719-244G>A	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179888	NM_000466.3(PEX1):c.2718+183C>A	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218521	NM_000466.3(PEX1):c.2718+134A>G	PEX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1351907	NM_000466.3(PEX1):c.2718+13_2718+16del	PEX1	Deletion (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1998535	NM_000466.3(PEX1):c.2718+10C>T	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 1080018	NM_000466.3(PEX1):c.2718+9T>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 360920	NM_000466.3(PEX1):c.2718+3A>G	PEX1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2813738	NM_000466.3(PEX1):c.2718+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Zellweger spectrum disorders	GLikely pathogenic
Select item 1160262	NM_000466.3(PEX1):c.2715C>G (p.Val905=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1513372	NM_000466.3(PEX1):c.2714T>A (p.Val905Asp)	PEX1 (V848D +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 2757788	NM_000466.3(PEX1):c.2712T>C (p.Ser904=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2689676	NM_000466.3(PEX1):c.2708T>C (p.Ile903Thr)	PEX1 (I695T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038843	NM_000466.3(PEX1):c.2708T>A (p.Ile903Lys)	PEX1 (I695K +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 1053202	NM_000466.3(PEX1):c.2707A>G (p.Ile903Val)	PEX1 (I695V +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 1122738	NM_000466.3(PEX1):c.2706T>C (p.Phe902=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1961389	NM_000466.3(PEX1):c.2701A>C (p.Asn901His)	PEX1 (N693H +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
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 848834	NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn)	PEX1 (S690N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1440458	NM_000466.3(PEX1):c.2689G>C (p.Glu897Gln)	PEX1 (E840Q +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 2096811	NM_000466.3(PEX1):c.2687G>T (p.Arg896Leu)	PEX1 (R839L +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 502332	NM_000466.3(PEX1):c.2687G>A (p.Arg896Gln)	PEX1 (R896Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 371721	NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)	PEX1 (R896* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +3 more	GPathogenic/Likely pathogenic
Select item 2051676	NM_000466.3(PEX1):c.2679A>G (p.Val893=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2792305	NM_000466.3(PEX1):c.2676G>C (p.Gly892=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2034893	NM_000466.3(PEX1):c.2676G>A (p.Gly892=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1174702	NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu)	PEX1 (G684E +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +3 more	GUncertain significance
Select item 1363178	NM_000466.3(PEX1):c.2667A>T (p.Leu889Phe)	PEX1 (L681F +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 1606368	NM_000466.3(PEX1):c.2655A>G (p.Thr885=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1159322	NM_000466.3(PEX1):c.2646G>C (p.Pro882=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 736684	NM_000466.3(PEX1):c.2646G>T (p.Pro882=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 597938	NM_000466.3(PEX1):c.2646G>A (p.Pro882=)	PEX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194604	NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu)	PEX1 (P882L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 502747	NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)	PEX1	Single nucleotide variant (synonymous variant)	PEX1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2172794	NM_000466.3(PEX1):c.2638T>A (p.Tyr880Asn)	PEX1 (Y880N +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 288706	NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)	PEX1 (L879del +2 more)	Microsatellite (inframe_deletion)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GConflicting classifications of pathogenicity
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 1146731	NM_000466.3(PEX1):c.2634G>A (p.Leu878=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1112896	NM_000466.3(PEX1):c.2632C>T (p.Leu878=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1021397	NM_000466.3(PEX1):c.2627G>T (p.Gly876Val)	PEX1 (G668V +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 1970746	NM_000466.3(PEX1):c.2620A>G (p.Arg874Gly)	PEX1 (R817G +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 371702	NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)	PEX1 (Q873* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 2082295	NM_000466.3(PEX1):c.2615G>A (p.Arg872Gln)	PEX1 (R815Q +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 1645811	NM_000466.3(PEX1):c.2614C>A (p.Arg872=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 265395	NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)	PEX1 (R872* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +7 more	GPathogenic
Select item 2744054	NM_000466.3(PEX1):c.2604C>T (p.Asn868=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
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 1117801	NM_000466.3(PEX1):c.2589A>G (p.Pro863=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1558881	NM_000466.3(PEX1):c.2586T>C (p.Tyr862=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 1536301	NM_000466.3(PEX1):c.2584-6del	PEX1	Deletion (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 498821	NM_000466.3(PEX1):c.2584-9_2584-8del	PEX1	Deletion (intron variant)	not provided	GUncertain significance
Select item 3043791	NM_000466.3(PEX1):c.2584-9G>C	PEX1	Single nucleotide variant (intron variant)	PEX1-related disorder	GLikely benign
Select item 1164265	NM_000466.3(PEX1):c.2584-21_2584-20dup	PEX1	Duplication (intron variant)	Zellweger spectrum disorders	GBenign
Select item 791686	NM_000466.3(PEX1):c.2584-9G>T	PEX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 360921	NM_000466.3(PEX1):c.2584-9del	PEX1	Deletion (intron variant)	Zellweger spectrum disorders +1 more	GConflicting classifications of pathogenicity
Select item 286353	NM_000466.3(PEX1):c.2584-21dup	PEX1	Duplication (intron variant)	not specified +2 more	GBenign
Select item 1153638	NM_000466.3(PEX1):c.2584-10T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +3 more	GBenign/Likely benign

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