"PreventionGenetics, part of Exact Sciences"[submitter] AND "PEX5"[gen - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045375	NM_001351132.2(PEX5):c.18G>A (p.Leu6=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder	GLikely benign
Select item 883930	NM_001351132.2(PEX5):c.48G>C (p.Pro16=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 597925	NM_001351132.2(PEX5):c.48G>A (p.Pro16=)	PEX5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 742982	NM_001351132.2(PEX5):c.63C>T (p.Ala21=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +1 more	GLikely benign
Select item 593519	NM_001351132.2(PEX5):c.129A>G (p.Gly43=)	PEX5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1115140	NM_001351132.2(PEX5):c.147+32_147+121del	PEX5	Deletion (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3054895	NM_001351132.2(PEX5):c.148-7_148-4del	PEX5	Microsatellite (intron variant)	PEX5-related disorder	GLikely benign
Select item 1619168	NM_001351132.2(PEX5):c.156G>A (p.Lys52=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +1 more	GLikely benign
Select item 1657376	NM_001351132.2(PEX5):c.216A>G (p.Ala72=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +1 more	GLikely benign
Select item 287004	NM_001351132.2(PEX5):c.258C>T (p.Asp86=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 594066	NM_001351132.2(PEX5):c.316+3G>A	PEX5	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2725127	NM_001351132.2(PEX5):c.317-10C>T	PEX5	Single nucleotide variant (intron variant)	PEX5-related disorder +1 more	GLikely benign
Select item 883932	NM_001351132.2(PEX5):c.317-6T>C	PEX5	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1619614	NM_001351132.2(PEX5):c.381T>C (p.Asp127=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder +1 more	GBenign/Likely benign
Select item 167460	NM_001351132.2(PEX5):c.396T>C (p.Thr132=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +2 more	GConflicting classifications of pathogenicity
Select item 499350	NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala)	PEX5 (S141A +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +3 more	GUncertain significance
Select item 3052049	NM_001351132.2(PEX5):c.448+10G>C	PEX5	Single nucleotide variant (intron variant)	PEX5-related disorder	GLikely benign
Select item 310417	NM_001351132.2(PEX5):c.498A>G (p.Gln166=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +2 more	GConflicting classifications of pathogenicity
Select item 310420	NM_001351132.2(PEX5):c.552-7G>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B +3 more	GConflicting classifications of pathogenicity
Select item 289541	NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)	PEX5 (V202L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 960162	NM_001351132.2(PEX5):c.642+6C>T	PEX5	Single nucleotide variant (intron variant)	PEX5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 310421	NM_001351132.2(PEX5):c.643-5C>T	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B +2 more	GConflicting classifications of pathogenicity
Select item 2628733	NM_001351132.2(PEX5):c.665T>C (p.Ile222Thr)	PEX5 (I222T +1 more)	Single nucleotide variant (missense variant +1 more)	PEX5-related disorder	GUncertain significance
Select item 597935	NM_001351132.2(PEX5):c.753+10T>C	PEX5	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1134399	NM_001351132.2(PEX5):c.754-5C>T	PEX5	Single nucleotide variant (intron variant)	PEX5-related disorder +1 more	GLikely benign
Select item 1112794	NM_001351132.2(PEX5):c.801A>G (p.Thr267=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder +1 more	GLikely benign
Select item 1031131	NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp)	PEX5 (R256W +5 more)	Single nucleotide variant (missense variant)	PEX5-related disorder +2 more	GUncertain significance
Select item 2413785	NM_001351132.2(PEX5):c.948G>A (p.Thr316=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder +1 more	GLikely benign
Select item 791005	NM_001351132.2(PEX5):c.1059T>C (p.Asn353=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder +1 more	GLikely benign
Select item 3054808	NM_001351132.2(PEX5):c.1111-6C>T	PEX5	Single nucleotide variant (intron variant)	PEX5-related disorder	GLikely benign
Select item 499518	NM_001351132.2(PEX5):c.1111-4C>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B +2 more	GConflicting classifications of pathogenicity
Select item 281738	NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln)	PEX5 (R385Q +6 more)	Single nucleotide variant (missense variant)	PEX5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 167462	NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +2 more	GConflicting classifications of pathogenicity
Select item 1127402	NM_001351132.2(PEX5):c.1413G>A (p.Val471=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder +1 more	GLikely benign
Select item 1140431	NM_001351132.2(PEX5):c.1480T>C (p.Leu494=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +1 more	GLikely benign
Select item 1401445	NM_001351132.2(PEX5):c.1560T>C (p.Asn520=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 257546	NM_001351132.2(PEX5):c.1632G>A (p.Ala544=)	PEX5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3036304	NM_001351132.2(PEX5):c.1701C>T (p.Ile567=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder	GLikely benign
Select item 287034	NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder +3 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 257548	NM_001351132.2(PEX5):c.1718+17A>G	PEX5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 728603	NM_001351132.2(PEX5):c.1800G>A (p.Ser600=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2896507	NM_001351132.2(PEX5):c.1809C>T (p.Ile603=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +1 more	GLikely benign
Select item 194614	NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)	PEX5 (S597N +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +5 more	GConflicting classifications of pathogenicity
Select item 731761	NM_001351132.2(PEX5):c.1869C>T (p.Ala623=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder +1 more	GLikely benign
Select item 310434	NM_001351132.2(PEX5):c.1875G>A (p.Ala625=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +2 more	GConflicting classifications of pathogenicity
Select item 310435	NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile)	PEX5 (M626I +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +3 more	GConflicting classifications of pathogenicity
Select item 3033166	NM_001351132.2(PEX5):c.1914C>G (p.Pro638=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder	GLikely benign
Select item 3032985	NM_001351132.2(PEX5):c.*9C>T	PEX5	Single nucleotide variant (3 prime UTR variant)	PEX5-related disorder	GLikely benign
Select item 257545	NM_001351132.2(PEX5):c.*20G>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign

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Items: 50