ClinVar for MedGen (Select 330407) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023744	NM_000287.4(PEX6):c.1944C>T (p.Thr648=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 3019611	NM_004813.4(PEX16):c.936C>G (p.Gly312=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 3017707	NM_000287.4(PEX6):c.2037T>C (p.Phe679=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 3015809	NM_004813.4(PEX16):c.359+1G>A	PEX16	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder	GLikely pathogenic
Select item 3014819	NM_000287.4(PEX6):c.2575C>T (p.Leu859=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 3013854	NM_000287.4(PEX6):c.1233+15A>G	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 3013751	NM_000287.4(PEX6):c.2588+14dup	PEX6	Duplication (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 3010634	NM_000287.4(PEX6):c.774C>T (p.Gly258=)	PEX6	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 3009786	NM_004813.4(PEX16):c.460+16A>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 3009469	NM_000287.4(PEX6):c.1212C>A (p.Thr404=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 3009221	NM_000287.4(PEX6):c.2581C>G (p.Pro861Ala)	PEX6 (P773A +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 3009009	NM_000287.4(PEX6):c.1011T>C (p.Tyr337=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 3008122	NM_004813.4(PEX16):c.888-17T>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 3007977	NM_000287.4(PEX6):c.2472-11C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 3006593	NM_004813.4(PEX16):c.771G>A (p.Leu257=)	PEX16	Single nucleotide variant (synonymous variant)	PEX16-related condition +1 more	GLikely benign
Select item 3005021	NM_004813.4(PEX16):c.792G>A (p.Lys264=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 3002716	NM_004813.4(PEX16):c.714G>A (p.Trp238Ter)	PEX16 (W238*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder	GPathogenic
Select item 3002244	NM_000287.4(PEX6):c.1878G>A (p.Arg626=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 3001526	NM_000287.4(PEX6):c.883-16G>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 3001237	NM_000287.4(PEX6):c.1998G>A (p.Glu666=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 3000652	NM_004813.4(PEX16):c.512C>A (p.Ser171Ter)	PEX16 (S171*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder	GPathogenic
Select item 2999190	NM_000287.4(PEX6):c.2031G>A (p.Glu677=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2996267	NM_000287.4(PEX6):c.2503G>T (p.Gly835Trp)	PEX6 (G747W +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2995373	NM_004813.4(PEX16):c.106C>T (p.Leu36=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2994833	NM_000287.4(PEX6):c.2023C>T (p.Leu675=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2994446	NM_000287.4(PEX6):c.55T>C (p.Leu19=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2992639	NM_004813.4(PEX16):c.113-20C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2987775	NM_000287.4(PEX6):c.396A>C (p.Pro132=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2985613	NM_004813.4(PEX16):c.113-6C>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2978755	NM_000287.4(PEX6):c.1046+20A>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2976597	NM_004813.4(PEX16):c.768-14T>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2976470	NM_004813.4(PEX16):c.633C>A (p.Thr211=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2974487	NM_004813.4(PEX16):c.767+20G>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2973969	NM_000287.4(PEX6):c.2181C>T (p.His727=)	PEX6	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2973789	NM_004813.4(PEX16):c.636C>A (p.Pro212=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2972473	NM_000287.4(PEX6):c.1521G>A (p.Val507=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2971901	NM_000287.4(PEX6):c.1479+11_1479+12del	PEX6	Microsatellite (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2971780	NM_004813.4(PEX16):c.542-20C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2970897	NM_000287.4(PEX6):c.1263G>A (p.Trp421Ter)	PEX6 (W421* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder	GPathogenic
Select item 2970802	NM_000287.4(PEX6):c.2169C>T (p.Leu723=)	PEX6	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2970145	NM_000287.4(PEX6):c.2667-16C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2968977	NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)	PEX6 (G774R +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GLikely pathogenic
Select item 2968280	NM_004813.4(PEX16):c.542-12C>G	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2968273	NM_000287.4(PEX6):c.1367+12C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2966737	NM_000287.4(PEX6):c.2589-19C>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2963805	NM_004813.4(PEX16):c.603G>A (p.Gln201=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2963184	NM_000287.4(PEX6):c.2667-12A>G	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2962993	NM_004813.4(PEX16):c.113-21_113-19del	PEX16	Microsatellite (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2959963	NM_004813.4(PEX16):c.460+19C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2958060	NM_000287.4(PEX6):c.1504G>T (p.Glu502Ter)	PEX6 (E414* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder	GPathogenic
Select item 2957568	NM_004813.4(PEX16):c.705G>C (p.Leu235=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2954802	NM_000287.4(PEX6):c.1961+16C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2918945	NM_000287.4(PEX6):c.660C>A (p.Gly220=)	PEX6	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2918939	NM_000287.4(PEX6):c.2790T>G (p.Val930=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2918391	NM_004813.4(PEX16):c.93C>T (p.Gly31=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2917104	NM_000287.4(PEX6):c.2778C>T (p.Leu926=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2916785	NM_000287.4(PEX6):c.1999C>T (p.Leu667=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2915297	NM_000287.4(PEX6):c.1131-19T>C	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2914265	NM_000287.4(PEX6):c.2807-17C>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2912813	NM_004813.4(PEX16):c.953-8C>T	PEX16	Single nucleotide variant (intron variant)	PEX16-related condition +1 more	GLikely benign
Select item 2911819	NM_000287.4(PEX6):c.1233+14G>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2910772	NM_004813.4(PEX16):c.630C>T (p.Pro210=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2910573	NM_000287.4(PEX6):c.625C>A (p.Arg209=)	PEX6	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2910484	NM_000287.4(PEX6):c.882+18G>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2908729	NM_000287.4(PEX6):c.1689-17C>G	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2908189	NM_000287.4(PEX6):c.1689-18C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2905876	NM_000287.4(PEX6):c.824C>G (p.Ala275Gly)	PEX6 (A275G)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2902937	NM_004813.4(PEX16):c.149-11C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2902647	NM_000287.4(PEX6):c.1130+13C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2900437	NM_000287.4(PEX6):c.2022C>T (p.Leu674=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2897911	NM_000287.4(PEX6):c.1551G>A (p.Arg517=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2897478	NM_000287.4(PEX6):c.186G>A (p.Ala62=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2897477	NM_000287.4(PEX6):c.222A>G (p.Leu74=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2896506	NM_004813.4(PEX16):c.370C>A (p.Arg124=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2896362	NM_000287.4(PEX6):c.1961+11G>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2894411	NM_000287.4(PEX6):c.1688+11A>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2894291	NM_000287.4(PEX6):c.1375C>T (p.Leu459=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2888366	NM_004813.4(PEX16):c.148+19G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2884903	NM_000287.4(PEX6):c.2362+20C>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2878748	NM_000287.4(PEX6):c.294G>A (p.Arg98=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2875302	NM_000287.4(PEX6):c.1234-11del	PEX6	Deletion (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2873517	NM_004813.4(PEX16):c.564C>T (p.His188=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2873124	NM_000287.4(PEX6):c.39G>C (p.Pro13=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2871451	NM_004813.4(PEX16):c.149-15CT[2]	PEX16	Microsatellite (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2869770	NM_000287.4(PEX6):c.1479+9C>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2868008	NM_004813.4(PEX16):c.112+20T>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2866869	NM_000287.4(PEX6):c.1367+13A>C	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2866702	NM_000287.4(PEX6):c.1884+1G>A	PEX6	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder	GLikely pathogenic
Select item 2866299	NM_000287.4(PEX6):c.2244del (p.Gly749fs)	PEX6 (G661fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder	GPathogenic
Select item 2866241	NM_004813.4(PEX16):c.113-11C>G	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2865716	NM_000287.4(PEX6):c.2666+8_2666+9del	PEX6	Microsatellite (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2865681	NM_000287.4(PEX6):c.2904C>T (p.Leu968=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2865521	NM_004813.4(PEX16):c.489G>A (p.Glu163=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2864599	NM_000287.4(PEX6):c.2095-9A>G	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2864354	NM_000287.4(PEX6):c.2095-16A>G	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2864162	NM_000287.4(PEX6):c.882+18G>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2863789	NM_000287.4(PEX6):c.486G>A (p.Gly162=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2863713	NM_000287.4(PEX6):c.1885-1G>A	PEX6	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder	GLikely pathogenic
Select item 2863523	NM_000287.4(PEX6):c.2063del (p.Thr688fs)	PEX6 (T600fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder	GPathogenic
Select item 2863106	NM_000287.4(PEX6):c.771C>A (p.Pro257=)	PEX6	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder	GLikely benign

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