"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PEX1"[gene - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371774	NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)	GATAD1, PEX1 (S1152fs +2 more)	Microsatellite (frameshift variant)	Zellweger spectrum disorders +4 more	GPathogenic/Likely pathogenic
Select item 360915	NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	GATAD1, PEX1 (M1125L +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 594749	NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders +4 more	GConflicting classifications of pathogenicity
Select item 591802	NM_000466.3(PEX1):c.3115del (p.Thr1039fs)	PEX1, GATAD1 (T831fs +2 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +5 more	GPathogenic/Likely pathogenic
Select item 188971	NM_000466.3(PEX1):c.2730del (p.Leu910fs)	PEX1 (L702fs +2 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 502747	NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)	PEX1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 7516	NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	PEX1 (G843D +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +10 more	GPathogenic
Select item 93106	NM_000466.3(PEX1):c.2442C>T (p.Phe814=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 871123	NM_000466.3(PEX1):c.2426del (p.Val808_Leu809insTer)	PEX1	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 871124	NM_000466.3(PEX1):c.2226+2T>C	PEX1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1583727	NM_000466.3(PEX1):c.2205A>G (p.Gln735=)	PEX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1110231	NM_000466.3(PEX1):c.2124G>C (p.Leu708=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders +1 more	GLikely benign
Select item 7519	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	PEX1 (I643fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +9 more	GPathogenic
Select item 1299078	NM_000466.3(PEX1):c.1976T>G (p.Val659Gly)	PEX1 (V451G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 493456	NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)	PEX1 (T527A +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 500641	NM_000466.3(PEX1):c.1284C>T (p.Ala428=)	PEX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 764071	NM_000466.3(PEX1):c.1230G>A (p.Gly410=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders +1 more	GLikely benign
Select item 644707	NM_000466.3(PEX1):c.1108dup (p.Ile370fs)	PEX1 (I370fs +1 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic
Select item 283861	NM_000466.3(PEX1):c.934A>G (p.Ile312Val)	PEX1 (I312V +1 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +4 more	GBenign/Likely benign
Select item 285002	NM_000466.3(PEX1):c.468A>G (p.Gln156=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders +4 more	GConflicting classifications of pathogenicity
Select item 93111	NM_000466.3(PEX1):c.330C>G (p.Pro110=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 1093476	NM_000466.3(PEX1):c.282C>G (p.Leu94=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders +1 more	GLikely benign
Select item 1141981	NM_000466.3(PEX1):c.159C>T (p.His53=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 635303	NM_000466.3(PEX1):c.130-2A>G	PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder +1 more	GPathogenic
Select item 552166	NM_000466.3(PEX1):c.1A>C (p.Met1Leu)	LOC129998796, PEX1 (M1L)	Single nucleotide variant (missense variant +2 more)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25