ClinVar for MedGen (Select 854881) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 520

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954498	NM_001127649.3(PEX26):c.344del (p.Lys115fs)	PEX26 (K115fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 2954452	NM_001127649.3(PEX26):c.667+8A>C	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2954198	NM_001127649.3(PEX26):c.72G>A (p.Pro24=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2953525	NM_001127649.3(PEX26):c.231-10C>A	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2953464	NM_001127649.3(PEX26):c.814+8G>A	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2953405	NM_001127649.3(PEX26):c.112C>T (p.Leu38=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2953292	NM_001127649.3(PEX26):c.815-19G>T	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2952592	NM_001127649.3(PEX26):c.279G>A (p.Leu93=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2952454	NM_001127649.3(PEX26):c.141G>C (p.Val47=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2951666	NM_001127649.3(PEX26):c.414G>C (p.Leu138=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2951570	NM_001127649.3(PEX26):c.814+22del	PEX26	Deletion (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GBenign
Select item 2951013	NM_001127649.3(PEX26):c.163C>T (p.Leu55=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2950617	NM_001127649.3(PEX26):c.204C>T (p.His68=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2950510	NM_001127649.3(PEX26):c.36C>A (p.Leu12=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2950305	NM_001127649.3(PEX26):c.133C>T (p.Leu45=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2950260	NM_001127649.3(PEX26):c.609G>A (p.Arg203=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2950098	NM_001127649.3(PEX26):c.814+13G>C	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2950069	NM_001127649.3(PEX26):c.543G>A (p.Val181=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2950049	NM_001127649.3(PEX26):c.255G>C (p.Leu85=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2949877	NM_001127649.3(PEX26):c.741C>T (p.Phe247=)	PEX26	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2949830	NM_001127649.3(PEX26):c.230+7G>A	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2949771	NM_001127649.3(PEX26):c.90C>T (p.Ala30=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2949733	NM_001127649.3(PEX26):c.306C>A (p.Val102=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2949689	NM_001127649.3(PEX26):c.372-2A>G	PEX26	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely pathogenic
Select item 2949512	NM_001127649.3(PEX26):c.438A>G (p.Gln146=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2948923	NM_001127649.3(PEX26):c.255G>A (p.Leu85=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2948716	NM_001127649.3(PEX26):c.615G>A (p.Gln205=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2948666	NM_001127649.3(PEX26):c.372-18G>T	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2948397	NM_001127649.3(PEX26):c.468T>C (p.Tyr156=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2948291	NM_001127649.3(PEX26):c.180G>A (p.Arg60=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2948029	NM_001127649.3(PEX26):c.96G>T (p.Ala32=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2947828	NM_001127649.3(PEX26):c.600C>T (p.His200=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2947804	NM_001127649.3(PEX26):c.195G>A (p.Leu65=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2947542	NM_001127649.3(PEX26):c.87G>C (p.Pro29=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2947416	NM_001127649.3(PEX26):c.371+8T>C	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2947335	NM_001127649.3(PEX26):c.371+20dup	PEX26	Duplication (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2946575	NM_001127649.3(PEX26):c.69G>A (p.Glu23=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2945177	NM_001127649.3(PEX26):c.861C>T (p.Phe287=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2945080	NM_001127649.3(PEX26):c.183C>T (p.Ala61=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2944925	NM_001127649.3(PEX26):c.498G>A (p.Arg166=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2944726	NM_001127649.3(PEX26):c.126C>T (p.Ala42=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2944618	NM_001127649.3(PEX26):c.668-14G>C	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2944483	NM_001127649.3(PEX26):c.84C>T (p.Val28=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2944471	NM_001127649.3(PEX26):c.36C>G (p.Leu12=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2944395	NM_001127649.3(PEX26):c.667+10T>C	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2944141	NM_001127649.3(PEX26):c.447C>G (p.Ala149=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2943548	NM_001127649.3(PEX26):c.87G>A (p.Pro29=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2943448	NM_001127649.3(PEX26):c.744T>C (p.Phe248=)	PEX26	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2943328	NM_001127649.3(PEX26):c.468T>G (p.Tyr156Ter)	PEX26 (Y156*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 7B +1 more	GPathogenic
Select item 2943190	NM_001127649.3(PEX26):c.688C>T (p.Leu230=)	PEX26	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2943018	NM_001127649.3(PEX26):c.516C>T (p.Gly172=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2943003	NM_001127649.3(PEX26):c.234A>G (p.Ser78=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2942734	NM_001127649.3(PEX26):c.396del (p.Glu133fs)	PEX26 (E133fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7B +1 more	GPathogenic
Select item 2942615	NM_001127649.3(PEX26):c.667+15C>T	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2942557	NM_001127649.3(PEX26):c.297G>A (p.Trp99Ter)	PEX26 (W99*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 7B +1 more	GPathogenic
Select item 2942255	NM_001127649.3(PEX26):c.162G>T (p.Ala54=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2942254	NM_001127649.3(PEX26):c.45C>T (p.Leu15=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2941891	NM_001127649.3(PEX26):c.30C>A (p.Ala10=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2940393	NM_001127649.3(PEX26):c.225G>T (p.Ala75=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2940082	NM_001127649.3(PEX26):c.298C>T (p.Gln100Ter)	PEX26 (Q100*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 7B +1 more	GPathogenic
Select item 2939424	NM_001127649.3(PEX26):c.543G>T (p.Val181=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2938994	NM_001127649.3(PEX26):c.668-17T>C	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2938993	NM_001127649.3(PEX26):c.668-20T>A	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2938962	NM_001127649.3(PEX26):c.465A>G (p.Glu155=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2935542	NM_001127649.3(PEX26):c.894C>T (p.Leu298=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2934975	NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)	LOC130066940, PEX26	Indel (initiator_codon_variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely pathogenic
Select item 2934382	NM_001127649.3(PEX26):c.815-14C>T	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2933260	NM_001127649.3(PEX26):c.78C>G (p.Arg26=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2932034	NM_001127649.3(PEX26):c.699G>A (p.Pro233=)	PEX26	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2931868	NM_001127649.3(PEX26):c.840C>T (p.Leu280=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2931526	NM_001127649.3(PEX26):c.525G>A (p.Ser175=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2931027	NM_001127649.3(PEX26):c.102C>G (p.Ala34=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2930626	NM_001127649.3(PEX26):c.429C>T (p.Ala143=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2930037	NM_001127649.3(PEX26):c.668-18C>A	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2929976	NM_001127649.3(PEX26):c.201C>T (p.Asn67=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2929815	NM_001127649.3(PEX26):c.668-18C>G	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2929183	NM_001127649.3(PEX26):c.814+11G>C	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2929178	NM_001127649.3(PEX26):c.472G>A (p.Ala158Thr)	PEX26 (A158T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7B +1 more	GUncertain significance
Select item 2928763	NM_001127649.3(PEX26):c.111T>G (p.Leu37=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 2928098	NM_001127649.3(PEX26):c.190_191del (p.Leu65fs)	PEX26 (L65fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 7B +1 more	GPathogenic
Select item 2927899	NM_001127649.3(PEX26):c.354dup (p.Lys119fs)	PEX26 (K119fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 7B +1 more	GPathogenic
Select item 2927045	NM_001127649.3(PEX26):c.855G>C (p.Gln285His)	PEX26 (Q236H +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2925656	NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)	PEX26 (C86R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely pathogenic
Select item 2925655	NM_001127649.3(PEX26):c.73_79del (p.Val25fs)	PEX26 (V25fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 2925654	NM_001127649.3(PEX26):c.37_38del (p.Arg13fs)	PEX26 (R13fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 2924494	NM_001127649.3(PEX26):c.18G>A (p.Ser6=)	LOC130066940, PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2923608	NM_001127649.3(PEX26):c.729G>A (p.Ala243=)	PEX26	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2923565	NM_001127649.3(PEX26):c.579G>A (p.Leu193=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2922041	NM_001127649.3(PEX26):c.660C>T (p.Asn220=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2921917	NM_001127649.3(PEX26):c.231-16G>T	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2921600	NM_001127649.3(PEX26):c.444A>G (p.Pro148=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2921526	NM_001127649.3(PEX26):c.372-4G>A	PEX26	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2921344	NM_001127649.3(PEX26):c.28del (p.Ala10fs)	PEX26 (A10fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 2677690	NM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter)	PEX26 (Y110*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 2677689	NM_001127649.3(PEX26):c.71del (p.Pro24fs)	PEX26 (P24fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 2677688	NM_001127649.3(PEX26):c.230+1G>A	PEX26	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GPathogenic
Select item 2677687	NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)	PEX26 (Q146*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 2677686	NM_001127649.3(PEX26):c.394C>T (p.Gln132Ter)	PEX26 (Q132*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 2677685	NM_001127649.3(PEX26):c.192_216del (p.Ser64fs)	PEX26 (S64fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GPathogenic
Select item 2677684	NM_001127649.3(PEX26):c.814+1G>A	PEX26	Single nucleotide variant (splice donor variant +1 more)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic

<< First< Prev

Page of 6