"GeneDx"[submitter] AND "PEX5"[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 152931	GRCh38/hg38 12p13.31(chr12:7055795-7428473)x3	ACSM4, C1R +18 more	Copy number gain	See cases	GUncertain significance
Select item 310415	NM_001351132.2(PEX5):c.-17+290T>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1291393	NM_001351132.2(PEX5):c.-16-100G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1303621	NM_001351132.2(PEX5):c.78G>C (p.Gln26His)	PEX5 (Q26H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 287000	NM_001351132.2(PEX5):c.135G>C (p.Pro45=)	PEX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1115140	NM_001351132.2(PEX5):c.147+32_147+121del	PEX5	Deletion (splice donor variant)	PEX5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 768511	NM_001351132.2(PEX5):c.147+77_147+121del	PEX5	Microsatellite (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1237069	NM_001351132.2(PEX5):c.147+59_147+68del	PEX5	Deletion (intron variant)	not provided	GBenign
Select item 1247430	NM_001351132.2(PEX5):c.147+70_147+104del	PEX5	Deletion (intron variant)	not provided	GBenign
Select item 1707240	NM_001351132.2(PEX5):c.147+148T>G	PEX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 620217	NM_001351132.2(PEX5):c.361G>T (p.Glu121Ter)	PEX5 (E121* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 2B +1 more	GPathogenic/Likely pathogenic
Select item 1707091	NM_001351132.2(PEX5):c.449-112G>A	PEX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449585	NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu)	PEX5 (Q166E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 559036	NM_001351132.2(PEX5):c.551+23G>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1098757	NM_001351132.2(PEX5):c.551+71C>T	PEX5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1291326	NM_001351132.2(PEX5):c.551+114dup	PEX5	Duplication (intron variant)	not provided	GBenign
Select item 802817	NM_001351132.2(PEX5):c.551+113_551+114dup	PEX5	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1295398	NM_001351132.2(PEX5):c.551+114_551+115insTTA	PEX5	Insertion (intron variant)	not provided	GBenign
Select item 1226012	NM_001351132.2(PEX5):c.551+115dup	PEX5	Duplication (intron variant)	not provided	GBenign
Select item 1183180	NM_001351132.2(PEX5):c.551+114_551+115insTA	PEX5	Insertion (intron variant)	not provided	GBenign
Select item 1225137	NM_001351132.2(PEX5):c.551+134T>C	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233141	NM_001351132.2(PEX5):c.551+296A>T	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232532	NM_001351132.2(PEX5):c.551+298A>C	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 418982	NM_001351132.2(PEX5):c.552-1G>A	PEX5	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 2B +1 more	GPathogenic/Likely pathogenic
Select item 598256	NM_001351132.2(PEX5):c.596G>A (p.Ser199Asn)	PEX5 (S199N +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 958415	NM_001351132.2(PEX5):c.610A>G (p.Lys204Glu)	PEX5 (K219E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1707112	NM_001351132.2(PEX5):c.753+92T>C	PEX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 235376	NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)	PEX5 (M272T +3 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +3 more	GBenign
Select item 559037	NM_001351132.2(PEX5):c.846+27C>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233116	NM_001351132.2(PEX5):c.846+283T>C	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248027	NM_001351132.2(PEX5):c.847-250_847-248del	PEX5	Deletion (intron variant)	not provided	GBenign
Select item 1218051	NM_001351132.2(PEX5):c.847-248C>G	PEX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297376	NM_001351132.2(PEX5):c.847-246_847-243del	PEX5	Deletion (intron variant)	not provided	GBenign
Select item 1261543	NM_001351132.2(PEX5):c.847-246_847-233del	PEX5	Deletion (intron variant)	not provided	GBenign
Select item 1252484	NM_001351132.2(PEX5):c.847-246_847-238del	PEX5	Deletion (intron variant)	not provided	GBenign
Select item 1234270	NM_001351132.2(PEX5):c.847-239G>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231215	NM_001351132.2(PEX5):c.847-238C>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243499	NM_001351132.2(PEX5):c.847-234G>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234697	NM_001351132.2(PEX5):c.847-233C>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224896	NM_001351132.2(PEX5):c.847-229G>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271676	NM_001351132.2(PEX5):c.847-228C>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237010	NM_001351132.2(PEX5):c.847-224G>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221643	NM_001351132.2(PEX5):c.847-223C>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228954	NM_001351132.2(PEX5):c.847-219G>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295399	NM_001351132.2(PEX5):c.847-218C>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295403	NM_001351132.2(PEX5):c.847-214G>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295401	NM_001351132.2(PEX5):c.847-213C>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257341	NM_001351132.2(PEX5):c.847-206_847-204del	PEX5	Deletion (intron variant)	not provided	GBenign
Select item 1196444	NM_001351132.2(PEX5):c.847-206T>C	PEX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199528	NM_001351132.2(PEX5):c.847-202_847-201insGA	PEX5	Insertion (intron variant)	not provided	GLikely benign
Select item 1181556	NM_001351132.2(PEX5):c.847-203C>G	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237949	NM_001351132.2(PEX5):c.847-130C>G	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2418652	NM_001351132.2(PEX5):c.847-2A>G	PEX5	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 432897	NM_001351132.2(PEX5):c.901C>G (p.Arg301Gly)	PEX5 (R293G +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1232050	NM_001351132.2(PEX5):c.966+216C>T	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265182	NM_001351132.2(PEX5):c.966+332G>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222407	NM_001351132.2(PEX5):c.967-112C>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559038	NM_001351132.2(PEX5):c.967-26C>G	PEX5	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 5 +3 more	GBenign
Select item 1254113	NM_001351132.2(PEX5):c.1111-84C>T	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272030	NM_001351132.2(PEX5):c.1182-161T>C	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 9144	NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter)	PEX5 (R390* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 559039	NM_001351132.2(PEX5):c.1394+22G>A	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 310426	NM_001351132.2(PEX5):c.1522G>A (p.Val508Met)	PEX5 (V500M +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance
Select item 1234386	NM_001351132.2(PEX5):c.1560+63T>C	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 802818	NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA	PEX5	Insertion (intron variant)	not provided +1 more	GBenign
Select item 9143	NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)	PEX5 (N489K +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 565733	NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys)	PEX5 (R546C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1021033	NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp)	PEX5 (R512W +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 427165	NM_001351132.2(PEX5):c.1718+5G>A	PEX5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257547	NM_001351132.2(PEX5):c.1718+13A>G	PEX5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1254098	NM_001351132.2(PEX5):c.1719-89C>T	PEX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303620	NM_001351132.2(PEX5):c.1768C>G (p.Arg590Gly)	PEX5 (R545G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420777	NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu)	PEX5 (S592L +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GConflicting classifications of pathogenicity
Select item 280450	NM_001351132.2(PEX5):c.1803_1805delinsTC (p.Glu601fs)	PEX5 (E598fs +6 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 194614	NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)	PEX5 (S597N +6 more)	Single nucleotide variant (missense variant)	PEX5-related condition +5 more	GConflicting classifications of pathogenicity
Select item 310437	NM_001351132.2(PEX5):c.*75G>A	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 310438	NM_001351132.2(PEX5):c.*81A>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310440	NM_001351132.2(PEX5):c.*141G>A	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 81