"Counsyl"[submitter] AND "PEX1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555569	NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter)	GATAD1, PEX1 (R1275* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +2 more	GUncertain significance
Select item 555409	NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs)	GATAD1, PEX1 (S1062fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +1 more	GUncertain significance
Select item 558733	NM_000466.3(PEX1):c.3768-1G>A	PEX1, GATAD1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 552961	NM_000466.3(PEX1):c.3768-2A>T	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 556432	NM_000466.3(PEX1):c.3767+1_3767+2dup	GATAD1, PEX1	Duplication (splice donor variant)	Zellweger spectrum disorders +1 more	GUncertain significance
Select item 554198	NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs)	PEX1, GATAD1 (S1246fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 188981	NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)	GATAD1, PEX1 (Q1174fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +5 more	GPathogenic/Likely pathogenic
Select item 557382	NM_000466.3(PEX1):c.3626del (p.Ser1209fs)	GATAD1, PEX1 (S1001fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 555854	NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs)	PEX1, GATAD1 (D1137fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely 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 371715	NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter)	GATAD1, PEX1 (E1183* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 555041	NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs)	GATAD1, PEX1 (A1096fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	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 557541	NM_000466.3(PEX1):c.3438+1G>T	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 553099	NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer)	PEX1, GATAD1	Deletion (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 371756	NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs)	GATAD1, PEX1 (L1024fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely 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 558452	NM_000466.3(PEX1):c.3207+2C>A	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 555373	NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del)	GATAD1, PEX1	Deletion (inframe_deletion)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
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 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 189002	NM_000466.3(PEX1):c.2926+2T>C	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 371696	NM_000466.3(PEX1):c.2922del (p.Leu974fs)	GATAD1, PEX1 (L917fs +2 more)	Deletion (frameshift variant)	not provided +3 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 1A (Zellweger) +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 558383	NM_000466.3(PEX1):c.2852dup (p.His951fs)	GATAD1, PEX1 (H743fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 556176	NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)	GATAD1, PEX1 (R949Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 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 556417	NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del)	PEX1, GATAD1 (D940del +2 more)	Microsatellite (inframe_deletion)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
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 557750	NM_000466.3(PEX1):c.2760del (p.Ala921fs)	PEX1 (A921fs +2 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 188971	NM_000466.3(PEX1):c.2730del (p.Leu910fs)	PEX1 (L702fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 371747	NM_000466.3(PEX1):c.2723del (p.Pro908fs)	PEX1 (P908fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 552936	NM_000466.3(PEX1):c.2719-2A>G	PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +2 more	GLikely 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 288706	NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)	PEX1 (L879del +2 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 371702	NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)	PEX1 (Q873* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 550854	NM_000466.3(PEX1):c.2518_2520del (p.Asp840del)	PEX1 (D840del +2 more)	Deletion (inframe_deletion)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GUncertain significance
Select item 558302	NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs)	PEX1 (N622fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 557248	NM_000466.3(PEX1):c.2489dup (p.Asn830fs)	PEX1 (N773fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 550603	NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup)	PEX1	Duplication (inframe_insertion)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 188851	NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)	PEX1 (R798fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 188873	NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	PEX1 (R795* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +5 more	GPathogenic/Likely pathogenic
Select item 360924	NM_000466.3(PEX1):c.2363T>C (p.Val788Ala)	PEX1 (V788A +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GUncertain significance
Select item 556128	NM_000466.3(PEX1):c.2262_2264del (p.Lys754del)	PEX1 (K754del +2 more)	Deletion (inframe_deletion)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 93104	NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)	PEX1 (Q744* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 371742	NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs)	PEX1 (L513fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 555759	NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3])	PEX1	Duplication (inframe_insertion)	Zellweger spectrum disorders +1 more	GUncertain significance
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 553031	NM_000466.3(PEX1):c.2071+2T>C	PEX1	Single nucleotide variant (intron variant +1 more)	Zellweger spectrum disorders +1 more	GLikely pathogenic
Select item 552345	NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del)	PEX1	Deletion (inframe_deletion +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 371692	NM_000466.3(PEX1):c.2034_2035del (p.His678fs)	PEX1 (H470fs +1 more)	Microsatellite (frameshift variant +1 more)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 555803	NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del)	PEX1	Deletion (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
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 371723	NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs)	PEX1 (V450fs +1 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 558710	NM_000466.3(PEX1):c.1927dup (p.Thr643fs)	PEX1 (T643fs +1 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +2 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 371693	NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter)	PEX1 (Q641* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371713	NM_000466.3(PEX1):c.1908del (p.Arg636fs)	PEX1 (R636fs +1 more)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 550841	NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)	PEX1 (R633* +1 more)	Single nucleotide variant (nonsense)	PEX1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 554241	NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)	PEX1	Deletion (nonsense)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 371703	NM_000466.3(PEX1):c.1842del (p.Glu615fs)	PEX1 (E407fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +6 more	GPathogenic/Likely pathogenic
Select item 558642	NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)	PEX1 (K406fs +1 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 549945	NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)	PEX1 (G593R +1 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +2 more	GConflicting classifications of pathogenicity
Select item 371726	NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)	PEX1 (G589* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 360926	NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser)	PEX1 (R577S +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
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 558342	NM_000466.3(PEX1):c.1670+5G>T	PEX1	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 371753	NM_000466.3(PEX1):c.1670+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Zellweger spectrum disorders +2 more	GLikely 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 555375	NM_000466.3(PEX1):c.1593_1595del (p.Leu532del)	PEX1 (L532del +1 more)	Deletion (inframe_deletion)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 551566	NM_000466.3(PEX1):c.1587+2T>C	PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely 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 558080	NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1])	PEX1	Microsatellite (inframe_deletion)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
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 371689	NM_000466.3(PEX1):c.1522dup (p.Glu508fs)	PEX1 (E508fs +1 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 189165	NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)	PEX1 (L293fs +1 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 555454	NM_000466.3(PEX1):c.1439del (p.Leu480fs)	PEX1 (L272fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 551109	NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter)	PEX1 (Q472* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 557343	NM_000466.3(PEX1):c.1239+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	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 286796	NM_000466.3(PEX1):c.1131del (p.Asp378fs)	PEX1 (D378fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 553087	NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del)	PEX1	Deletion (inframe_deletion)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 371779	NM_000466.3(PEX1):c.1108del (p.Ile370fs)	PEX1 (I370fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 371694	NM_000466.3(PEX1):c.1076del (p.Lys359fs)	PEX1 (K359fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 371725	NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs)	PEX1 (K151fs +1 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 189029	NM_000466.3(PEX1):c.911_912del (p.Ser304fs)	PEX1 (S304fs +1 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 371751	NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer)	PEX1	Microsatellite (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 188910	NM_000466.3(PEX1):c.782_783del (p.Gln261fs)	PEX1 (Q261fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +6 more	GPathogenic/Likely pathogenic
Select item 557794	NM_000466.3(PEX1):c.760dup (p.Ser254fs)	PEX1 (S46fs +1 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely 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 188897	NM_000466.3(PEX1):c.643_647del (p.Thr215fs)	PEX1 (T7fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 167445	NM_000466.3(PEX1):c.627G>A (p.Met209Ile)	PEX1 (M209I +1 more)	Single nucleotide variant (missense variant +1 more)	Zellweger spectrum disorders +5 more	GConflicting classifications of pathogenicity
Select item 360931	NM_000466.3(PEX1):c.578A>G (p.Asp193Gly)	PEX1 (D193G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 551013	NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)	PEX1 (S190*)	Single nucleotide variant (nonsense +1 more)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 371782	NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)	PEX1 (R183*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic

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