ClinVar for MedGen (Select 766854) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3013832	NM_000318.3(PEX2):c.113del (p.Thr38fs)	PEX2 (T38fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic
Select item 2912754	NM_000318.3(PEX2):c.192G>A (p.Leu64=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2882766	NM_000318.3(PEX2):c.567A>G (p.Glu189=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2864809	NM_000318.3(PEX2):c.603T>C (p.Ala201=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2862292	NM_000318.3(PEX2):c.285T>G (p.Tyr95Ter)	PEX2 (Y95*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic
Select item 2847988	NM_000318.3(PEX2):c.429T>A (p.Ile143=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2844694	NM_000318.3(PEX2):c.756C>T (p.Thr252=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2839712	NM_000318.3(PEX2):c.6T>C (p.Ala2=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2838200	NM_000318.3(PEX2):c.470del (p.Phe157fs)	PEX2 (F157fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic
Select item 2836183	NM_000318.3(PEX2):c.190T>C (p.Leu64=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2829867	NM_000318.3(PEX2):c.465G>A (p.Leu155=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2829827	NM_000318.3(PEX2):c.495T>A (p.Thr165=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2824534	NM_000318.3(PEX2):c.858A>G (p.Glu286=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2816312	NM_000318.3(PEX2):c.142C>T (p.Leu48=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2812909	NM_000318.3(PEX2):c.489T>C (p.Phe163=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2812482	NM_000318.3(PEX2):c.405C>A (p.Val135=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2800172	NM_000318.3(PEX2):c.320_326del (p.Ala107fs)	PEX2 (A107fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic
Select item 2794835	NM_000318.3(PEX2):c.111T>C (p.Phe37=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2793309	NM_000318.3(PEX2):c.43C>T (p.Leu15=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2792560	NM_000318.3(PEX2):c.627A>G (p.Pro209=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2772985	NM_000318.3(PEX2):c.585T>C (p.Leu195=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2772984	NM_000318.3(PEX2):c.318T>A (p.Tyr106Ter)	PEX2 (Y106*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic
Select item 2770454	NM_000318.3(PEX2):c.507T>A (p.Arg169=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2767292	NM_000318.3(PEX2):c.891C>G (p.Ile297Met)	PEX2 (I297M)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2763031	NM_000318.3(PEX2):c.693T>C (p.Pro231=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2745060	NM_000318.3(PEX2):c.144G>T (p.Leu48=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2743494	NM_000318.3(PEX2):c.828G>A (p.Val276=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2735116	NM_000318.3(PEX2):c.502G>T (p.Glu168Ter)	PEX2 (E168*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic
Select item 2721168	NM_000318.3(PEX2):c.69T>G (p.Leu23=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2712584	NM_000318.3(PEX2):c.375A>G (p.Arg125=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2707834	NM_000318.3(PEX2):c.384T>C (p.His128=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2704217	NM_000318.3(PEX2):c.324T>A (p.Val108=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2697915	NM_000318.3(PEX2):c.272dup (p.Pro91_Asn92insTer)	PEX2	Duplication (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic
Select item 2692693	NM_000318.3(PEX2):c.369del (p.Leu123fs)	PEX2 (L123fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic
Select item 2677680	NM_000318.3(PEX2):c.310del (p.Ile104fs)	PEX2 (I104fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677679	NM_000318.3(PEX2):c.188dup (p.Trp65fs)	PEX2 (W65fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677678	NM_000318.3(PEX2):c.260del (p.Asn87fs)	PEX2 (N87fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677677	NM_000318.3(PEX2):c.197_198del (p.Arg66fs)	PEX2 (R66fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677676	NM_000318.3(PEX2):c.521_524del (p.His174fs)	PEX2 (H174fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677675	NM_000318.3(PEX2):c.807_808insT (p.Ser270Ter)	PEX2 (S270*)	Insertion (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677674	NM_000318.3(PEX2):c.831delinsGTTTCTTA (p.Tyr277Ter)	PEX2 (Y277*)	Indel (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677673	NM_000318.3(PEX2):c.233dup (p.Ser79fs)	PEX2 (S79fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677672	NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)	PEX2 (W61*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic/Likely pathogenic
Select item 2677671	NM_000318.3(PEX2):c.550delinsCC (p.Cys184fs)	PEX2 (C184fs)	Indel (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677670	NM_000318.3(PEX2):c.791_795del (p.Cys264fs)	PEX2 (C264fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677669	NM_000318.3(PEX2):c.395_396del (p.Phe132fs)	PEX2 (F132fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677668	NM_000318.3(PEX2):c.661_676dup (p.Pro226fs)	PEX2 (P226fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2677667	NM_000318.3(PEX2):c.253dup (p.Tyr85fs)	PEX2 (Y85fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely pathogenic
Select item 2422870	NC_000008.10:g.(?_77895497)_(77896414_?)del	PEX2	Deletion	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic
Select item 2420460	NM_000318.3(PEX2):c.671G>A (p.Cys224Tyr)	PEX2 (C224Y)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2419736	NM_000318.3(PEX2):c.21T>C (p.Asn7=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2419732	NM_000318.3(PEX2):c.44T>C (p.Leu15Pro)	PEX2 (L15P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2418495	NM_000318.3(PEX2):c.140G>A (p.Gly47Glu)	PEX2 (G47E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2417658	NM_000318.3(PEX2):c.600T>C (p.Phe200=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2202209	NM_000318.3(PEX2):c.437T>C (p.Leu146Ser)	PEX2 (L146S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2200104	NM_000318.3(PEX2):c.143T>C (p.Leu48Pro)	PEX2 (L48P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2199552	NM_000318.3(PEX2):c.555A>G (p.Glu185=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2197731	NM_000318.3(PEX2):c.506G>A (p.Arg169His)	PEX2 (R169H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2195488	NM_000318.3(PEX2):c.673A>G (p.Ile225Val)	PEX2 (I225V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2194720	NM_000318.3(PEX2):c.94C>T (p.Leu32=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2193715	NM_000318.3(PEX2):c.63T>C (p.Asp21=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2186388	NM_000318.3(PEX2):c.32C>A (p.Ala11Glu)	PEX2 (A11E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2182365	NM_000318.3(PEX2):c.201C>T (p.Phe67=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2176172	NM_000318.3(PEX2):c.575A>G (p.Asn192Ser)	PEX2 (N192S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2175995	NM_000318.3(PEX2):c.126T>C (p.His42=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2173345	NM_000318.3(PEX2):c.757A>G (p.Met253Val)	PEX2 (M253V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2166823	NM_000318.3(PEX2):c.752C>T (p.Pro251Leu)	PEX2 (P251L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2161468	NM_000318.3(PEX2):c.584T>C (p.Leu195Pro)	PEX2 (L195P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2160766	NM_000318.3(PEX2):c.737T>C (p.Leu246Pro)	PEX2 (L246P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2160134	NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)	PEX2 (W105*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic/Likely pathogenic
Select item 2154955	NM_000318.3(PEX2):c.238G>A (p.Val80Ile)	PEX2 (V80I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2151876	NM_000318.3(PEX2):c.268T>A (p.Ser90Thr)	PEX2 (S90T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2151643	NM_000318.3(PEX2):c.505C>T (p.Arg169Cys)	PEX2 (R169C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2147228	NM_000318.3(PEX2):c.488T>G (p.Phe163Cys)	PEX2 (F163C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2143841	NM_000318.3(PEX2):c.16G>C (p.Glu6Gln)	PEX2 (E6Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2135359	NM_000318.3(PEX2):c.610_611del (p.Leu204fs)	PEX2 (L204fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic/Likely pathogenic
Select item 2125411	NM_000318.3(PEX2):c.831C>T (p.Tyr277=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2124691	NM_000318.3(PEX2):c.356G>A (p.Arg119Gln)	PEX2 (R119Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2124674	NM_000318.3(PEX2):c.221C>T (p.Ala74Val)	PEX2 (A74V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2122179	NM_000318.3(PEX2):c.500C>T (p.Thr167Ile)	PEX2 (T167I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2120492	NM_000318.3(PEX2):c.234G>A (p.Gln78=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2118796	NM_000318.3(PEX2):c.752C>G (p.Pro251Arg)	PEX2 (P251R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2117863	NM_000318.3(PEX2):c.715A>T (p.Thr239Ser)	PEX2 (T239S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2115889	NM_000318.3(PEX2):c.475C>T (p.Gln159Ter)	PEX2 (Q159*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger)	GPathogenic
Select item 2113770	NM_000318.3(PEX2):c.12A>G (p.Arg4=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2111474	NM_000318.3(PEX2):c.109T>A (p.Phe37Ile)	PEX2 (F37I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2102079	NM_000318.3(PEX2):c.526G>A (p.Val176Ile)	PEX2 (V176I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2102021	NM_000318.3(PEX2):c.594T>C (p.His198=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2093941	NM_000318.3(PEX2):c.373C>G (p.Arg125Gly)	PEX2 (R125G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2090140	NM_000318.3(PEX2):c.365A>T (p.Asp122Val)	PEX2 (D122V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2089522	NM_000318.3(PEX2):c.122T>A (p.Phe41Tyr)	PEX2 (F41Y)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2088306	NM_000318.3(PEX2):c.429T>G (p.Ile143Met)	PEX2 (I143M)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2087397	NM_000318.3(PEX2):c.639C>T (p.Val213=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2085994	NM_000318.3(PEX2):c.278T>C (p.Leu93Pro)	PEX2 (L93P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2085143	NM_000318.3(PEX2):c.101G>C (p.Trp34Ser)	PEX2 (W34S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2084006	NM_000318.3(PEX2):c.911C>T (p.Ala304Val)	PEX2 (A304V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2083936	NM_000318.3(PEX2):c.884C>T (p.Ser295Leu)	PEX2 (S295L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2081530	NM_000318.3(PEX2):c.693T>A (p.Pro231=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2080583	NM_000318.3(PEX2):c.685G>C (p.Gly229Arg)	PEX2 (G229R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 2080143	NM_000318.3(PEX2):c.601G>A (p.Ala201Thr)	PEX2 (A201T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance

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