ClinVar for Gene (Select 9409) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366591	NM_004813.4(PEX16):c.692A>G (p.His231Arg)	PEX16 (H231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358757	NM_004813.4(PEX16):c.*71C>T	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GLikely benign
Select item 3357358	NM_004813.4(PEX16):c.*104dup	PEX16 (P328fs)	Duplication (3 prime UTR variant +1 more)	PEX16-related disorder	GUncertain significance
Select item 3357309	NM_004813.4(PEX16):c.*99G>A	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GLikely benign
Select item 3355203	NM_004813.4(PEX16):c.*127C>T	PEX16 (P335S)	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GUncertain significance
Select item 3347271	NM_004813.4(PEX16):c.*86G>C	PEX16 (R321P)	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GUncertain significance
Select item 3211505	NM_004813.4(PEX16):c.71A>G (p.Gln24Arg)	PEX16 (Q24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061419	NM_004813.4(PEX16):c.888-4C>G	PEX16	Single nucleotide variant (intron variant)	PEX16-related disorder	GLikely benign
Select item 3036863	NM_004813.4(PEX16):c.*78G>A	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GLikely benign
Select item 3033169	NM_004813.4(PEX16):c.*1C>T	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GLikely benign
Select item 3032880	NM_004813.4(PEX16):c.*170G>A	PEX16	Single nucleotide variant (3 prime UTR variant)	PEX16-related disorder	GLikely benign
Select item 3029486	NM_004813.4(PEX16):c.*123A>G	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related 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 3015809	NM_004813.4(PEX16):c.359+1G>A	PEX16	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder	GLikely pathogenic
Select item 3009786	NM_004813.4(PEX16):c.460+16A>C	PEX16	Single nucleotide variant (intron variant)	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 3006593	NM_004813.4(PEX16):c.771G>A (p.Leu257=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	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 3000652	NM_004813.4(PEX16):c.512C>A (p.Ser171Ter)	PEX16 (S171*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder	GPathogenic
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 2992639	NM_004813.4(PEX16):c.113-20C>T	PEX16	Single nucleotide variant (intron variant)	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 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 2973789	NM_004813.4(PEX16):c.636C>A (p.Pro212=)	PEX16	Single nucleotide variant (synonymous 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 2968280	NM_004813.4(PEX16):c.542-12C>G	PEX16	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 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 2957568	NM_004813.4(PEX16):c.705G>C (p.Leu235=)	PEX16	Single nucleotide variant (synonymous variant)	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 2912813	NM_004813.4(PEX16):c.953-8C>T	PEX16	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 2902937	NM_004813.4(PEX16):c.149-11C>T	PEX16	Single nucleotide variant (intron variant)	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 2888366	NM_004813.4(PEX16):c.148+19G>A	PEX16	Single nucleotide variant (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 2871451	NM_004813.4(PEX16):c.149-15CT[2]	PEX16	Microsatellite (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 2866241	NM_004813.4(PEX16):c.113-11C>G	PEX16	Single nucleotide variant (intron variant)	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 2863044	NM_004813.4(PEX16):c.360-17C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2862812	NM_004813.4(PEX16):c.379C>T (p.Leu127=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2860761	NM_004813.4(PEX16):c.238C>T (p.Gln80Ter)	PEX16 (Q80*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder	GPathogenic
Select item 2858482	NM_004813.4(PEX16):c.913T>C (p.Leu305=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2858180	NM_004813.4(PEX16):c.972G>A (p.Leu324=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2858040	NM_004813.4(PEX16):c.742T>C (p.Leu248=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2855895	NM_004813.4(PEX16):c.360-15T>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2854595	NM_004813.4(PEX16):c.549C>A (p.Ser183=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2853802	NM_004813.4(PEX16):c.695-4T>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2853728	NM_004813.4(PEX16):c.148+18G>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2850688	NM_004813.4(PEX16):c.942C>A (p.Gly314=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2846886	NM_004813.4(PEX16):c.113-18_113-16del	PEX16	Deletion (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2846416	NM_004813.4(PEX16):c.817G>T (p.Glu273Ter)	PEX16 (E273*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder	GPathogenic
Select item 2845187	NM_004813.4(PEX16):c.966T>C (p.Asp322=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2844298	NM_004813.4(PEX16):c.149-15C>G	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2841728	NM_004813.4(PEX16):c.933T>A (p.Pro311=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2840310	NM_004813.4(PEX16):c.276G>C (p.Val92=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2840221	NM_004813.4(PEX16):c.855G>C (p.Leu285=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2839820	NM_004813.4(PEX16):c.935G>T (p.Gly312Val)	PEX16 (G312V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2839489	NM_004813.4(PEX16):c.695-7C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2838231	NM_004813.4(PEX16):c.732A>G (p.Lys244=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2837030	NM_004813.4(PEX16):c.942C>T (p.Gly314=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2834955	NM_004813.4(PEX16):c.359+16G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2833235	NM_004813.4(PEX16):c.767+15G>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2831688	NM_004813.4(PEX16):c.129G>T (p.Ser43=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2830563	NM_004813.4(PEX16):c.461-17C>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2828451	NM_004813.4(PEX16):c.767+7_767+10dup	PEX16	Duplication (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2827930	NM_004813.4(PEX16):c.767+8T>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2826500	NM_004813.4(PEX16):c.360-6A>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2825706	NM_004813.4(PEX16):c.542-12C>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2825705	NM_004813.4(PEX16):c.825G>A (p.Arg275=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2824631	NM_004813.4(PEX16):c.888-9C>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2823900	NM_004813.4(PEX16):c.225+16A>G	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2823845	NM_004813.4(PEX16):c.360-16A>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2823573	NM_004813.4(PEX16):c.237G>A (p.Gln79=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2823567	NM_004813.4(PEX16):c.767+20G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2821361	NM_004813.4(PEX16):c.58del (p.Ala20fs)	PEX16 (A20fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder	GPathogenic
Select item 2820498	NM_004813.4(PEX16):c.148+13C>G	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2820038	NM_004813.4(PEX16):c.120C>T (p.Phe40=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2819962	NM_004813.4(PEX16):c.138G>A (p.Leu46=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2812546	NM_004813.4(PEX16):c.675T>C (p.Ile225=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2804021	NM_004813.4(PEX16):c.627C>T (p.Thr209=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2803992	NM_004813.4(PEX16):c.633C>G (p.Thr211=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2800121	NM_004813.4(PEX16):c.801C>G (p.Thr267=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2800116	NM_004813.4(PEX16):c.900C>T (p.Leu300=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2795628	NM_004813.4(PEX16):c.148+10G>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2793648	NM_004813.4(PEX16):c.828C>T (p.Arg276=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2792124	NM_004813.4(PEX16):c.177G>C (p.Leu59=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2789021	NM_004813.4(PEX16):c.953-20G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2788508	NM_004813.4(PEX16):c.541+14G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2787771	NM_004813.4(PEX16):c.953-15C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2786788	NM_004813.4(PEX16):c.129G>A (p.Ser43=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2783661	NM_004813.4(PEX16):c.113-18T>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2782772	NM_004813.4(PEX16):c.825G>T (p.Arg275=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2780285	NM_004813.4(PEX16):c.19C>T (p.Leu7=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2771725	NM_004813.4(PEX16):c.945G>C (p.Leu315=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign

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