ClinVar for MedGen (Select 766914) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247397	NC_000002.11:g.(?_61244895)_(61275905_?)del	PUS10, PEX13	Deletion	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 3022282	NM_002618.4(PEX13):c.348T>C (p.Ser116=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 3019268	NM_002618.4(PEX13):c.913+11A>G	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 3019187	NM_002618.4(PEX13):c.787+16G>A	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 3017390	NM_002618.4(PEX13):c.807T>C (p.Ser269=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GLikely benign
Select item 3016035	NM_002618.4(PEX13):c.174G>A (p.Arg58=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 3014430	NM_002618.4(PEX13):c.943C>T (p.Leu315=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 3013039	NM_002618.4(PEX13):c.447T>C (p.Ala149=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 3012978	NM_002618.4(PEX13):c.465T>C (p.Tyr155=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 3012977	NM_002618.4(PEX13):c.426T>A (p.Ser142=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 3012369	NM_002618.4(PEX13):c.69A>C (p.Gly23=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 3010513	NM_002618.4(PEX13):c.147C>T (p.Thr49=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 3001307	NM_002618.4(PEX13):c.832A>C (p.Arg278=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2976862	NM_002618.4(PEX13):c.913+13G>A	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2965715	NM_002618.4(PEX13):c.990T>C (p.Tyr330=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2881836	NM_002618.4(PEX13):c.729C>T (p.Ile243=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2879038	NM_002618.4(PEX13):c.27C>G (p.Pro9=)	PUS10, PEX13	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2878990	NM_002618.4(PEX13):c.1077A>G (p.Thr359=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2874185	NM_002618.4(PEX13):c.219T>C (p.Pro73=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2873057	NM_002618.4(PEX13):c.504T>C (p.Phe168=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2864417	NM_002618.4(PEX13):c.42C>A (p.Thr14=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2860515	NM_002618.4(PEX13):c.507C>T (p.Ser169=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2859713	NM_002618.4(PEX13):c.871del (p.Ile291fs)	PEX13 (I291fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 2858327	NM_002618.4(PEX13):c.903A>G (p.Leu301=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2857465	NM_002618.4(PEX13):c.222T>C (p.Ala74=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2853442	NM_002618.4(PEX13):c.567G>A (p.Arg189=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2850622	NM_002618.4(PEX13):c.124A>C (p.Arg42=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2850220	NM_002618.4(PEX13):c.738T>C (p.Gly246=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2850064	NM_002618.4(PEX13):c.914-17T>G	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2846882	NM_002618.4(PEX13):c.204G>C (p.Val68=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2846783	NM_002618.4(PEX13):c.540A>C (p.Ser180=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2844387	NM_002618.4(PEX13):c.914-10T>C	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2837196	NM_002618.4(PEX13):c.510A>G (p.Arg170=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2834722	NM_002618.4(PEX13):c.145dup (p.Thr49fs)	PEX13 (T49fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 2834166	NM_002618.4(PEX13):c.801G>A (p.Trp267Ter)	PEX13 (W267*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 2834135	NM_002618.4(PEX13):c.558G>A (p.Arg186=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2825207	NM_002618.4(PEX13):c.788-7C>T	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2825032	NM_002618.4(PEX13):c.18A>T (p.Pro6=)	PEX13, PUS10	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2824010	NM_002618.4(PEX13):c.342A>G (p.Pro114=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GLikely benign
Select item 2822785	NM_002618.4(PEX13):c.423C>T (p.Ala141=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2821455	NM_002618.4(PEX13):c.714G>A (p.Leu238=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2820628	NM_002618.4(PEX13):c.921A>G (p.Gln307=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2818451	NM_002618.4(PEX13):c.744C>T (p.Tyr248=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2818111	NM_002618.4(PEX13):c.6G>C (p.Ala2=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2817936	NM_002618.4(PEX13):c.387A>C (p.Ala129=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2817575	NM_002618.4(PEX13):c.93-12T>A	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2814698	NM_002618.4(PEX13):c.27C>T (p.Pro9=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2809578	NM_002618.4(PEX13):c.828T>C (p.Val276=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2808370	NM_002618.4(PEX13):c.135A>G (p.Gln45=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2805185	NM_002618.4(PEX13):c.20dup (p.Pro8fs)	PEX13, PUS10 (P8fs)	Duplication (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 2802470	NM_002618.4(PEX13):c.1191T>C (p.Asp397=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2802356	NM_002618.4(PEX13):c.1131T>C (p.Phe377=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2800177	NM_002618.4(PEX13):c.208A>G (p.Thr70Ala)	PEX13 (T70A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2794380	NM_002618.4(PEX13):c.93-8G>C	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2791308	NM_002618.4(PEX13):c.981T>C (p.Pro327=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2781799	NM_002618.4(PEX13):c.468C>T (p.Asn156=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2775537	NM_002618.4(PEX13):c.914-19T>G	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2772672	NM_002618.4(PEX13):c.297A>G (p.Gly99=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2769873	NM_002618.4(PEX13):c.915A>G (p.Glu305=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2765917	NM_002618.4(PEX13):c.883G>T (p.Ala295Ser)	PEX13 (A295S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2765621	NM_002618.4(PEX13):c.69A>T (p.Gly23=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2762794	NM_002618.4(PEX13):c.596T>G (p.Leu199Ter)	PEX13 (L199*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 2757683	NM_002618.4(PEX13):c.431del (p.Ser144fs)	PEX13 (S144fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 2754296	NM_002618.4(PEX13):c.27del (p.Lys10fs)	PEX13, PUS10 (K10fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 2749264	NM_002618.4(PEX13):c.92+1G>A	PEX13, PUS10	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely pathogenic
Select item 2748121	NM_002618.4(PEX13):c.963A>G (p.Gln321=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2747914	NM_002618.4(PEX13):c.648A>G (p.Gly216=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2743250	NM_002618.4(PEX13):c.147C>A (p.Thr49=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2742993	NM_002618.4(PEX13):c.855del (p.Val286fs)	PEX13 (V286fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 2739582	NM_002618.4(PEX13):c.93-11T>C	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2734844	NM_002618.4(PEX13):c.942T>A (p.Leu314=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2733105	NM_002618.4(PEX13):c.657A>G (p.Ala219=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2730752	NM_144709.4(PUS10):c.-16+139G>T	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2727059	NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)	PEX13 (R226*)	Single nucleotide variant (nonsense)	PEX13-related disorder +1 more	GPathogenic
Select item 2722852	NM_002618.4(PEX13):c.744C>G (p.Tyr248Ter)	PEX13 (Y248*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 2713952	NM_002618.4(PEX13):c.423C>G (p.Ala141=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2711224	NM_002618.4(PEX13):c.1140T>G (p.Val380=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2703673	NM_002618.4(PEX13):c.914-18G>A	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2702942	NM_002618.4(PEX13):c.507C>A (p.Ser169=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2699904	NM_002618.4(PEX13):c.705A>T (p.Pro235=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2697164	NM_002618.4(PEX13):c.132A>G (p.Gly44=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2694814	NM_002618.4(PEX13):c.735T>A (p.Gly245=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2428463	NM_144709.4(PUS10):c.-16+150C>A	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2424504	NC_000002.11:g.(?_61272841)_(61275905_?)dup	PEX13	Duplication	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2424503	NC_000002.11:g.(?_61272841)_(61275905_?)del	PEX13	Deletion	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2424502	NC_000002.11:g.(?_61258534)_(61275905_?)del	PEX13	Deletion	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2421861	NM_002618.4(PEX13):c.647G>C (p.Gly216Ala)	PEX13 (G216A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2421218	NM_002618.4(PEX13):c.254A>G (p.Tyr85Cys)	PEX13 (Y85C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2420395	NM_002618.4(PEX13):c.1104T>C (p.Asp368=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GLikely benign
Select item 2201272	NM_002618.4(PEX13):c.289A>G (p.Ser97Gly)	PEX13 (S97G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2198692	NM_002618.4(PEX13):c.296G>T (p.Gly99Val)	PEX13 (G99V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2180141	NM_002618.4(PEX13):c.788-9G>C	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2179497	NM_002618.4(PEX13):c.85A>G (p.Thr29Ala)	PUS10, PEX13 (T29A)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2174098	NM_002618.4(PEX13):c.846T>G (p.Asp282Glu)	PEX13 (D282E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2164745	NM_002618.4(PEX13):c.913+8A>G	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2160468	NM_002618.4(PEX13):c.520C>T (p.His174Tyr)	PEX13 (H174Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2157793	NM_002618.4(PEX13):c.340C>G (p.Pro114Ala)	PEX13 (P114A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2149787	NM_002618.4(PEX13):c.382G>C (p.Gly128Arg)	PEX13 (G128R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2144227	NM_002618.4(PEX13):c.26C>A (p.Pro9His)	PEX13, PUS10 (P9H)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2142993	NM_002618.4(PEX13):c.1180A>G (p.Ile394Val)	PEX13 (I394V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance

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