C0282527[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1724945	NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)	GATAD1, PEX1 (Q1092* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724441	NM_000466.3(PEX1):c.3422del (p.Gly1141fs)	GATAD1, PEX1 (G1084fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726545	NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)	GATAD1, PEX1 (L1047* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725879	NM_000466.3(PEX1):c.3308del (p.Gly1103fs)	GATAD1, PEX1 (G1046fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726360	NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)	GATAD1, PEX1 (G1043* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724960	NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)	GATAD1, PEX1 (S1034fs +2 more)	Insertion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726581	NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)	GATAD1, PEX1 (F1029fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1B +3 more	GPathogenic/Likely pathogenic
Select item 1725277	NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)	GATAD1, PEX1 (E1015fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725101	NM_000466.3(PEX1):c.3003del (p.Lys1001fs)	GATAD1, PEX1 (K1001fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1723957	NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)	GATAD1, PEX1 (Y770fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 188729	NM_000466.3(PEX1):c.2926+1G>A	PEX1, GATAD1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1B +6 more	GPathogenic/Likely pathogenic
Select item 1725917	NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)	GATAD1, PEX1 (Q755* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726171	NM_000466.3(PEX1):c.2849dup (p.His951fs)	GATAD1, PEX1 (H743fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726168	NM_000466.3(PEX1):c.2770dup (p.Asp924fs)	PEX1 (D716fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
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 1724598	NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)	PEX1 (T577fs +2 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1723945	NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs)	PEX1 (I553fs +2 more)	Insertion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725019	NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter)	PEX1 (R537* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726753	NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs)	PEX1 (Q530fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1726416	NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)	PEX1 (C525* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724587	NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs)	PEX1 (Q507fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 217428	NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)	PEX1 (L705W +2 more)	Single nucleotide variant (missense variant)	PEX1-related condition +4 more	GConflicting classifications of pathogenicity
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 1725253	NM_000466.3(PEX1):c.1895del (p.Leu632fs)	PEX1 (L424fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726874	NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter)	PEX1 (R418* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1725090	NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter)	PEX1 (K406* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724444	NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs)	PEX1 (L400fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726543	NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter)	PEX1 (S398* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726137	NM_000466.3(PEX1):c.1815dup (p.Ser606fs)	PEX1 (S398fs +1 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726968	NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter)	PEX1 (K393* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1724705	NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs)	PEX1 (L382fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726128	NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs)	PEX1 (S358fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726265	NM_000466.3(PEX1):c.1611del (p.Glu538fs)	PEX1 (E330fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725098	NM_000466.3(PEX1):c.1552_1553delinsA (p.Leu518fs)	PEX1 (L310fs +1 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726594	NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter)	PEX1 (E290* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1723916	NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs)	PEX1 (L282fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724433	NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs)	PEX1 (S250fs +1 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726617	NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter)	PEX1 (K247* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1726449	NM_000466.3(PEX1):c.1321del (p.Ile441fs)	PEX1 (I233fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726409	NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter)	PEX1 (E184* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724078	NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)	PEX1 (Q159* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724261	NM_000466.3(PEX1):c.805_806del (p.Glu269fs)	PEX1 (E269fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726334	NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs)	PEX1 (F253fs +1 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726780	NM_000466.3(PEX1):c.716C>G (p.Ser239Ter)	PEX1 (S239* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1725981	NM_000466.3(PEX1):c.659C>A (p.Ser220Ter)	PEX1 (S12* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725575	NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs)	PEX1 (M210fs +1 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725049	NM_000466.3(PEX1):c.532_533del (p.Gln178fs)	PEX1 (Q178fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725305	NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer)	PEX1	Indel (nonsense +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726514	NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs)	PEX1 (T171fs)	Insertion (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725038	NM_000466.3(PEX1):c.496del (p.Tyr166fs)	PEX1 (Y166fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725086	NM_000466.3(PEX1):c.253G>T (p.Gly85Ter)	PEX1 (G85*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726455	NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)	PEX1 (Q69*)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 1725832	NM_000466.3(PEX1):c.175_176del (p.Ser59fs)	PEX1 (S59fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726075	NM_000466.3(PEX1):c.66dup (p.Asn23fs)	LOC129998796, PEX1 (N23fs)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic

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Items: 54