ClinVar for Gene (Select 5830) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211513	NM_001351132.2(PEX5):c.688G>C (p.Glu230Gln)	PEX5 (E230Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3211512	NM_001351132.2(PEX5):c.1717C>G (p.Arg573Gly)	PEX5 (R528G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211511	NM_001351132.2(PEX5):c.1250C>T (p.Ser417Phe)	PEX5 (S380F +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068282	NM_001351132.2(PEX5):c.1819dup (p.Leu607fs)	PEX5 (L562fs +6 more)	Duplication (frameshift variant)	Rhizomelic chondrodysplasia punctata type 5	GLikely pathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3054895	NM_001351132.2(PEX5):c.148-7_148-4del	PEX5	Microsatellite (intron variant)	PEX5-related condition	GLikely benign
Select item 3054808	NM_001351132.2(PEX5):c.1111-6C>T	PEX5	Single nucleotide variant (intron variant)	PEX5-related condition	GLikely benign
Select item 3052049	NM_001351132.2(PEX5):c.448+10G>C	PEX5	Single nucleotide variant (intron variant)	PEX5-related condition	GLikely benign
Select item 3045375	NM_001351132.2(PEX5):c.18G>A (p.Leu6=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related condition	GLikely benign
Select item 3036304	NM_001351132.2(PEX5):c.1701C>T (p.Ile567=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related condition	GLikely benign
Select item 3033166	NM_001351132.2(PEX5):c.1914C>G (p.Pro638=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related condition	GLikely benign
Select item 3032985	NM_001351132.2(PEX5):c.*9C>T	PEX5	Single nucleotide variant (3 prime UTR variant)	PEX5-related condition	GLikely benign
Select item 3022772	NM_001351132.2(PEX5):c.642+7del	PEX5	Deletion (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 3016044	NM_001351132.2(PEX5):c.148-13C>T	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 3015580	NM_001351132.2(PEX5):c.1110+13A>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 3011972	NM_001351132.2(PEX5):c.1077G>A (p.Glu359=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 3010278	NM_001351132.2(PEX5):c.1782T>C (p.Gly594=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 3010246	NM_001351132.2(PEX5):c.967-4G>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 3009037	NM_001351132.2(PEX5):c.1182-8T>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 3002627	NM_001351132.2(PEX5):c.1398C>A (p.Ser466=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 3002626	NM_001351132.2(PEX5):c.1395-12C>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 3001032	NM_001351132.2(PEX5):c.148-7del	PEX5	Deletion (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2999595	NM_001351132.2(PEX5):c.948G>T (p.Thr316=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2994589	NM_001351132.2(PEX5):c.234C>T (p.Ala78=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2993970	NM_001351132.2(PEX5):c.846+14G>T	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2993514	NM_001351132.2(PEX5):c.777C>T (p.Asp259=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2985588	NM_001351132.2(PEX5):c.317-20T>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2983452	NM_001351132.2(PEX5):c.450C>T (p.Asp150=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2978647	NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)	PEX5 (N481K +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GPathogenic
Select item 2977787	NM_001351132.2(PEX5):c.966+16T>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2977549	NM_001351132.2(PEX5):c.552-14C>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2964570	NM_001351132.2(PEX5):c.846+15T>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2963349	NM_001351132.2(PEX5):c.1266C>T (p.Ala422=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2918627	NM_001351132.2(PEX5):c.231T>C (p.Arg77=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2918403	NM_001351132.2(PEX5):c.951A>G (p.Ser317=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2914198	NM_001351132.2(PEX5):c.1515C>T (p.Asp505=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2909771	NM_001351132.2(PEX5):c.1815C>T (p.Ser605=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2908053	NM_001351132.2(PEX5):c.102A>G (p.Gly34=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2903789	NM_001351132.2(PEX5):c.1767C>T (p.Ser589=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2901365	NM_001351132.2(PEX5):c.897A>G (p.Ala299=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2896509	NM_001351132.2(PEX5):c.967-9T>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2896507	NM_001351132.2(PEX5):c.1809C>T (p.Ile603=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related condition +1 more	GLikely benign
Select item 2894842	NM_001351132.2(PEX5):c.1395-20T>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2893568	NM_001351132.2(PEX5):c.1134C>G (p.Thr378=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2891748	NM_001351132.2(PEX5):c.642+20T>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2890692	NM_001351132.2(PEX5):c.317-16C>T	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2890620	NM_001351132.2(PEX5):c.654C>G (p.Phe218Leu)	PEX5 (F233L +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 2883664	NM_001351132.2(PEX5):c.135_147+32del	PEX5	Deletion (inframe_deletion +1 more)	Peroxisome biogenesis disorder 2B	GLikely pathogenic
Select item 2878345	NM_001351132.2(PEX5):c.1560+10G>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2874243	NM_001351132.2(PEX5):c.147+2T>G	PEX5 (V50G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 2B	GLikely pathogenic
Select item 2871579	NM_001351132.2(PEX5):c.967-20C>T	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2870547	NM_001351132.2(PEX5):c.184-17C>T	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2868841	NM_001351132.2(PEX5):c.1713T>G (p.Ala571=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2864444	NM_001351132.2(PEX5):c.183+8G>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2864263	NM_001351132.2(PEX5):c.1155A>G (p.Glu385=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2864008	NM_001351132.2(PEX5):c.1718+18G>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2862576	NM_001351132.2(PEX5):c.678G>A (p.Gln226=)	PEX5	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2862461	NM_001351132.2(PEX5):c.184-16A>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2861746	NM_001351132.2(PEX5):c.1110+8A>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2860429	NM_001351132.2(PEX5):c.279G>A (p.Gln93=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2860019	NM_001351132.2(PEX5):c.846+16G>T	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2857339	NM_001351132.2(PEX5):c.1704C>T (p.Asn568=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2857181	NM_001351132.2(PEX5):c.1395-5T>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2855210	NM_001351132.2(PEX5):c.846+15T>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2852232	NM_001351132.2(PEX5):c.573G>A (p.Glu191=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2848153	NM_001351132.2(PEX5):c.1111-6C>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2844960	NM_001351132.2(PEX5):c.147+13G>C	PEX5 (E54Q)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2844720	NM_001351132.2(PEX5):c.316+9A>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2843508	NM_001351132.2(PEX5):c.1111-7C>T	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2841505	NM_001351132.2(PEX5):c.942C>T (p.Asp314=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2840433	NM_001351132.2(PEX5):c.594C>T (p.Ala198=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2839601	NM_001351132.2(PEX5):c.219C>A (p.Pro73=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2838358	NM_001351132.2(PEX5):c.642+8A>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2838351	NM_001351132.2(PEX5):c.36G>C (p.Gly12=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2837930	NM_001351132.2(PEX5):c.345T>G (p.Ser115=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2835797	NM_001351132.2(PEX5):c.449-11del	PEX5	Deletion (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2834499	NM_001351132.2(PEX5):c.807C>T (p.Ala269=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2833622	NM_001351132.2(PEX5):c.1110+14T>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2832679	NM_001351132.2(PEX5):c.1111-14C>T	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2832584	NM_001351132.2(PEX5):c.184-4del	PEX5	Deletion (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2832190	NM_001351132.2(PEX5):c.753+1G>A	PEX5	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 2B	GLikely pathogenic
Select item 2831894	NM_001351132.2(PEX5):c.551+20T>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2831613	NM_001351132.2(PEX5):c.1512T>G (p.Tyr504Ter)	PEX5 (Y482* +6 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 2B	GPathogenic
Select item 2831409	NM_001351132.2(PEX5):c.740_743del (p.Phe247fs)	PEX5 (F247fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 2B	GPathogenic
Select item 2831307	NM_001351132.2(PEX5):c.642+18dup	PEX5	Duplication (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2831247	NM_001351132.2(PEX5):c.1718+8T>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2829875	NM_001351132.2(PEX5):c.551+14_551+25del	PEX5	Deletion (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2828843	NM_001351132.2(PEX5):c.153C>G (p.Ser51=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2826917	NM_001351132.2(PEX5):c.339C>T (p.Ala113=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2822537	NM_001351132.2(PEX5):c.1368_1369insGG (p.Arg457fs)	PEX5 (R449fs +6 more)	Insertion (frameshift variant)	Peroxisome biogenesis disorder 2B	GPathogenic
Select item 2822535	NM_001351132.2(PEX5):c.1364G>A (p.Ser455Asn)	PEX5 (S447N +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 2822497	NM_001351132.2(PEX5):c.606G>T (p.Val202=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2822336	NM_001351132.2(PEX5):c.183+16T>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2815063	NM_001351132.2(PEX5):c.1719-10T>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2815026	NM_001351132.2(PEX5):c.147+55_147+56insGTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTC	PEX5	Insertion (intron variant +1 more)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2814882	NM_001351132.2(PEX5):c.1821G>C (p.Leu607=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2814864	NM_001351132.2(PEX5):c.966+15C>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2814412	NM_001351132.2(PEX5):c.846+19G>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2812840	NM_001351132.2(PEX5):c.847-9T>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2810972	NM_001351132.2(PEX5):c.184-20C>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B	GLikely benign

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