ClinVar for MedGen (Select 79470) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1495205	NM_000466.3(PEX1):c.357+1G>T	PEX1	Single nucleotide variant (5 prime UTR variant +1 more)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 1453236	NM_000466.3(PEX1):c.3622del (p.Arg1208fs)	GATAD1, PEX1 (R1208fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1 +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)	Zellweger spectrum disorders +4 more	GPathogenic/Likely pathogenic
Select item 1209655	NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile)	GATAD1, PEX1 (S1017I +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 1209654	NM_000466.3(PEX1):c.1716C>A (p.His572Gln)	PEX1 (H364Q +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GUncertain significance
Select item 1209638	NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr)	PEX1 (I492T +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GUncertain significance
Select item 1209637	NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala)	GATAD1, PEX1 (E1134A +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 1209636	NM_000466.3(PEX1):c.927C>G (p.His309Gln)	PEX1 (H101Q +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 1209635	NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp)	PEX1 (G355D +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 1174702	NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu)	PEX1 (G684E +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +3 more	GUncertain significance
Select item 1154651	NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 1153638	NM_000466.3(PEX1):c.2584-10T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +3 more	GBenign/Likely benign
Select item 1036917	NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)	PEX1 (S241P +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +3 more	GConflicting classifications of pathogenicity
Select item 971689	NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)	PEX1 (V734I +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +5 more	GUncertain significance
Select item 963178	NM_000466.3(PEX1):c.2926+4A>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +3 more	GUncertain significance
Select item 909481	NM_000466.3(PEX1):c.1901-14T>C	PEX1	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 909479	NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg)	PEX1 (Q478R +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GUncertain significance
Select item 813453	NM_000466.3(PEX1):c.130-1G>T	PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +2 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 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 813450	NM_000466.3(PEX1):c.1126del (p.Glu376fs)	PEX1 (E168fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely 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 813403	NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)	PEX1 (M487fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1 +3 more	GPathogenic
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 810635	NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)	PEX1 (R135*)	Single nucleotide variant (nonsense +1 more)	Zellweger spectrum disorders +3 more	GPathogenic
Select item 785435	NM_000466.3(PEX1):c.812A>G (p.Asn271Ser)	PEX1 (N271S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 729928	NM_000466.3(PEX1):c.147G>A (p.Val49=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Heimler syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 638320	NM_000466.3(PEX1):c.2783+6T>C	PEX1	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1B	GUncertain significance
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 587523	NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro)	GATAD1, PEX1 (R959P +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +2 more	GUncertain significance
Select item 558237	NM_000466.3(PEX1):c.273+1G>A	PEX1	Single nucleotide variant (splice donor 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)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GLikely pathogenic
Select item 553776	NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	GATAD1, PEX1 (L1026P +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 552880	NM_000466.3(PEX1):c.472+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 551650	NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)	GATAD1, PEX1 (R1013H +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 548004	NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)	GATAD1, PEX1 (N1044K +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +3 more	GConflicting classifications of pathogenicity
Select item 502697	NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn)	GATAD1, PEX1 (D1095N +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder due to PEX1 defect +5 more	GConflicting classifications of pathogenicity
Select item 502318	NM_000466.3(PEX1):c.254G>A (p.Gly85Glu)	PEX1 (G85E)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GUncertain significance
Select item 498412	NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)	PEX1 (D417N +1 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +5 more	GUncertain significance
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 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 441031	NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)	GATAD1, PEX1 (R948Q +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GUncertain significance
Select item 371784	NM_000466.3(PEX1):c.2927-2A>G	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +3 more	GLikely pathogenic
Select item 371782	NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)	PEX1 (R183*)	Single nucleotide variant (nonsense +1 more)	Zellweger spectrum disorders +4 more	GPathogenic/Likely pathogenic
Select item 371780	NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs)	PEX1 (K642fs +1 more)	Indel (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371779	NM_000466.3(PEX1):c.1108del (p.Ile370fs)	PEX1 (I370fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +4 more	GPathogenic/Likely 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 371769	NM_000466.3(PEX1):c.734del (p.Leu245fs)	PEX1 (L245fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371767	NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer)	PEX1	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371765	NM_000466.3(PEX1):c.3208-1G>A	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic

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