"Ambry Genetics"[submitter] AND "PEX5"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2123881	NM_001351132.2(PEX5):c.37G>A (p.Gly13Ser)	PEX5 (G13S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 1014355	NM_001351132.2(PEX5):c.115C>G (p.Pro39Ala)	PEX5 (P39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1484275	NM_001351132.2(PEX5):c.121C>T (p.Pro41Ser)	PEX5 (P41S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 2010412	NM_001351132.2(PEX5):c.183G>A (p.Glu61=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 598356	NM_001351132.2(PEX5):c.195A>C (p.Glu65Asp)	PEX5 (E65D +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance
Select item 1462239	NM_001351132.2(PEX5):c.241A>T (p.Thr81Ser)	PEX5 (T81S +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 598498	NM_001351132.2(PEX5):c.297C>A (p.Phe99Leu)	PEX5 (F99L +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance
Select item 594066	NM_001351132.2(PEX5):c.316+3G>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B +3 more	GConflicting classifications of pathogenicity
Select item 883932	NM_001351132.2(PEX5):c.317-6T>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 597182	NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg)	PEX5 (P151R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 2158848	NM_001351132.2(PEX5):c.544G>A (p.Asp182Asn)	PEX5 (D197N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 289261	NM_001351132.2(PEX5):c.547C>T (p.Arg183Cys)	PEX5 (R183C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 943627	NM_001351132.2(PEX5):c.550T>C (p.Trp184Arg)	PEX5 (W184R +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 502042	NM_001351132.2(PEX5):c.670G>A (p.Glu224Lys)	PEX5 (E224K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 836306	NM_001351132.2(PEX5):c.710G>A (p.Arg237Gln)	PEX5 (R252Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031131	NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp)	PEX5 (R256W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2547876	NM_001351132.2(PEX5):c.934T>C (p.Tyr312His)	PEX5 (Y327H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 595254	NM_001351132.2(PEX5):c.1030C>T (p.Arg344Trp)	PEX5 (R344W +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance
Select item 883208	NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys)	PEX5 (R308C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2146178	NM_001351132.2(PEX5):c.1177C>T (p.Arg393Trp)	PEX5 (R385W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1468397	NM_001351132.2(PEX5):c.1211C>T (p.Thr404Ile)	PEX5 (T367I +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	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 1047181	NM_001351132.2(PEX5):c.1280G>A (p.Arg427Gln)	PEX5 (R390Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 971496	NM_001351132.2(PEX5):c.1280G>T (p.Arg427Leu)	PEX5 (R382L +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 593511	NM_001351132.2(PEX5):c.1292G>A (p.Arg431Gln)	PEX5 (R423Q +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 971979	NM_001351132.2(PEX5):c.1333G>C (p.Glu445Gln)	PEX5 (E400Q +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 1372623	NM_001351132.2(PEX5):c.1381T>A (p.Ser461Thr)	PEX5 (S439T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 310427	NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)	PEX5 (N520S +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1396047	NM_001351132.2(PEX5):c.1565A>G (p.Tyr522Cys)	PEX5 (Y537C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 565733	NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys)	PEX5 (R546C +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2180802	NM_001351132.2(PEX5):c.1675C>T (p.Arg559Cys)	PEX5 (R537C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2068786	NM_001351132.2(PEX5):c.1769G>C (p.Arg590Pro)	PEX5 (R568P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 861592	NM_001351132.2(PEX5):c.1769G>A (p.Arg590Gln)	PEX5 (R568Q +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 843623	NM_001351132.2(PEX5):c.1777C>T (p.Arg593Trp)	PEX5 (R571W +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 1060086	NM_001351132.2(PEX5):c.1790G>A (p.Gly597Asp)	PEX5 (G552D +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 194614	NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)	PEX5 (S597N +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger) +5 more	GConflicting classifications of pathogenicity
Select item 310433	NM_001351132.2(PEX5):c.1873G>A (p.Ala625Thr)	PEX5 (A625T +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance
Select item 851096	NM_001351132.2(PEX5):c.1874C>T (p.Ala625Val)	PEX5 (A580V +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 593551	NM_001351132.2(PEX5):c.1897A>C (p.Thr633Pro)	PEX5 (T625P +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance

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Items: 42