C0282527[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188981	NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)	GATAD1, PEX1 (Q1174fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 1453236	NM_000466.3(PEX1):c.3622del (p.Arg1208fs)	GATAD1, PEX1 (R1208fs +2 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 371698	NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)	GATAD1, PEX1 (Q1192* +2 more)	Single nucleotide variant (nonsense)	PEX1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 813402	NM_000466.3(PEX1):c.3573del (p.Glu1191fs)	GATAD1, PEX1 (E1134fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
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 287046	NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)	GATAD1, PEX1 (C1045fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 1726581	NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)	GATAD1, PEX1 (F1029fs +2 more)	Microsatellite (frameshift variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 371765	NM_000466.3(PEX1):c.3208-1G>A	PEX1, GATAD1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 591802	NM_000466.3(PEX1):c.3115del (p.Thr1039fs)	GATAD1, PEX1 (T831fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 553776	NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	PEX1, GATAD1 (L1026P +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +4 more	GConflicting classifications of pathogenicity
Select item 551650	NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)	GATAD1, PEX1 (R1013H +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 495880	NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	GATAD1, PEX1 (R998* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 224325	NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	GATAD1, PEX1 (I989T +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +6 more	GPathogenic/Likely pathogenic
Select item 371784	NM_000466.3(PEX1):c.2927-2A>G	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GLikely pathogenic
Select item 188729	NM_000466.3(PEX1):c.2926+1G>A	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +6 more	GPathogenic/Likely pathogenic
Select item 189043	NM_000466.3(PEX1):c.2916del (p.Gly973fs)	GATAD1, PEX1 (G973fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +6 more	GPathogenic/Likely pathogenic
Select item 371716	NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)	GATAD1, PEX1 (R959* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 371706	NM_000466.3(PEX1):c.2859dup (p.Thr954fs)	GATAD1, PEX1 (T746fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 371720	NM_000466.3(PEX1):c.2798dup (p.Pro934fs)	GATAD1, PEX1 (P934fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 371721	NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)	PEX1 (R896* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 265395	NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)	PEX1 (R872* +2 more)	Single nucleotide variant (nonsense)	See cases +7 more	GPathogenic
Select item 7516	NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	PEX1 (G843D +2 more)	Single nucleotide variant (missense variant)	not specified +10 more	GPathogenic
Select item 188873	NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	PEX1 (R795* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 371699	NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)	PEX1 (Q713* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 7519	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	PEX1 (I643fs +2 more)	Duplication (frameshift variant)	not provided +8 more	GPathogenic
Select item 813403	NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)	PEX1 (M487fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic
Select item 7517	NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	PEX1 (L664P +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1B +4 more	GLikely pathogenic
Select item 93102	NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)	PEX1	Duplication (inframe_insertion +1 more)	Peroxisome biogenesis disorder +5 more	GConflicting classifications of pathogenicity
Select item 371703	NM_000466.3(PEX1):c.1842del (p.Glu615fs)	PEX1 (E407fs +1 more)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 217429	NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	PEX1 (R581P +1 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 188984	NM_000466.3(PEX1):c.1716_1717del (p.His572fs)	PEX1 (H364fs +1 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 371727	NM_000466.3(PEX1):c.1670+1G>T	PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 371701	NM_000466.3(PEX1):c.1587+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GLikely pathogenic
Select item 371690	NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)	PEX1 (E510* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 371739	NM_000466.3(PEX1):c.1527del (p.Glu510fs)	PEX1 (E510fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 1 +2 more	GLikely pathogenic
Select item 813449	NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter)	PEX1 (L239* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 217430	NM_000466.3(PEX1):c.1239+1G>T	PEX1	Single nucleotide variant (splice donor variant)	not provided +5 more	GPathogenic
Select item 813450	NM_000466.3(PEX1):c.1126del (p.Glu376fs)	PEX1 (E168fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +4 more	GPathogenic/Likely pathogenic
Select item 371779	NM_000466.3(PEX1):c.1108del (p.Ile370fs)	PEX1 (I370fs +1 more)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 188910	NM_000466.3(PEX1):c.782_783del (p.Gln261fs)	PEX1 (Q261fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +6 more	GPathogenic/Likely pathogenic
Select item 813451	NM_000466.3(PEX1):c.573del (p.Ala192fs)	PEX1 (A192fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 371782	NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)	PEX1 (R183*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1B +4 more	GPathogenic/Likely pathogenic
Select item 810635	NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)	PEX1 (R135*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic
Select item 371714	NM_000466.3(PEX1):c.358-1G>T	PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 554482	NM_000466.3(PEX1):c.358-2A>C	PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +3 more	GLikely pathogenic
Select item 1495205	NM_000466.3(PEX1):c.357+1G>T	PEX1	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 558237	NM_000466.3(PEX1):c.273+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Heimler syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 502318	NM_000466.3(PEX1):c.254G>A (p.Gly85Glu)	PEX1 (G85E)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 1 +4 more	GUncertain significance
Select item 1726455	NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)	PEX1 (Q69*)	Single nucleotide variant (nonsense +1 more)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 813452	NM_000466.3(PEX1):c.180G>A (p.Trp60Ter)	PEX1 (W60*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 813453	NM_000466.3(PEX1):c.130-1G>T	PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 1451521	NM_000466.3(PEX1):c.56_80del (p.Val19fs)	LOC129998796, PEX1 (V19fs)	Deletion (frameshift variant +1 more)	Heimler syndrome 1 +4 more	GPathogenic/Likely pathogenic

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Items: 52