PEX10[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296266	NM_002617.4(PEX10):c.*310G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296267	NM_002617.4(PEX10):c.*304C>T	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875399	NM_002617.4(PEX10):c.*175T>C	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296268	NM_002617.4(PEX10):c.*173G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1201303	NM_002617.4(PEX10):c.*102TC[1]	PEX10	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 296269	NM_002617.4(PEX10):c.*91A>G	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296270	NM_002617.4(PEX10):c.*16G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 262787	NM_002617.4(PEX10):c.*11G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GBenign
Select item 296271	NM_002617.4(PEX10):c.*10C>T	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 500892	NM_002617.4(PEX10):c.*7G>T	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2434652	NM_002617.4(PEX10):c.*3C>T	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 556763	NM_002617.4(PEX10):c.981A>G (p.Ter327Trp)	PEX10	Single nucleotide variant (stop lost +1 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 1651066	NM_002617.4(PEX10):c.980G>A (p.Ter327=)	PEX10	Single nucleotide variant (non-coding transcript variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 552841	NM_002617.4(PEX10):c.979T>C (p.Ter327Arg)	PEX10	Single nucleotide variant (stop lost +1 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 2752346	NM_002617.4(PEX10):c.978C>G (p.Arg326=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 296272	NM_002617.4(PEX10):c.977G>A (p.Arg326His)	PEX10 (R346H +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GUncertain significance
Select item 2147514	NM_002617.4(PEX10):c.976C>A (p.Arg326Ser)	PEX10 (R326S +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 2141745	NM_002617.4(PEX10):c.976C>T (p.Arg326Cys)	PEX10 (R182C +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2202598	NM_002617.4(PEX10):c.968G>C (p.Arg323Pro)	PEX10 (R179P +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 500751	NM_002617.4(PEX10):c.967C>T (p.Arg323Trp)	PEX10 (R343W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1087996	NM_002617.4(PEX10):c.963C>T (p.Tyr321=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1448457	NM_002617.4(PEX10):c.960C>G (p.Ile320Met)	PEX10 (I195M +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 1360381	NM_002617.4(PEX10):c.959T>C (p.Ile320Thr)	PEX10 (I195T +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1638712	NM_002617.4(PEX10):c.957C>T (p.Leu319=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 556838	NM_002617.4(PEX10):c.952_954del (p.Lys318del)	PEX10 (K338del +4 more)	Deletion (inframe_deletion +1 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 1418768	NM_002617.4(PEX10):c.953A>G (p.Lys318Arg)	PEX10 (K318R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1349056	NM_002617.4(PEX10):c.952A>G (p.Lys318Glu)	PEX10 (K193E +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1059766	NM_002617.4(PEX10):c.946C>T (p.Pro316Ser)	PEX10 (P172S +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2709931	NM_002617.4(PEX10):c.945T>C (p.Pro315=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1434831	NM_002617.4(PEX10):c.944C>G (p.Pro315Arg)	PEX10 (P315R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2416247	NM_002617.4(PEX10):c.942C>T (p.Phe314=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1366109	NM_002617.4(PEX10):c.940T>C (p.Phe314Leu)	PEX10 (F314L +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 288707	NM_002617.4(PEX10):c.934G>A (p.Glu312Lys)	PEX10 (E332K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3006174	NM_002617.4(PEX10):c.933G>A (p.Arg311=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 162433	NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)	PEX10 (R331Q +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 1471815	NM_002617.4(PEX10):c.931C>G (p.Arg311Gly)	PEX10 (R186G +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 964391	NM_002617.4(PEX10):c.931C>T (p.Arg311Trp)	PEX10 (R311W +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2150837	NM_002617.4(PEX10):c.929G>A (p.Cys310Tyr)	PEX10 (C310Y +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1926541	NM_002617.4(PEX10):c.928T>C (p.Cys310Arg)	PEX10 (C310R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1442986	NM_002617.4(PEX10):c.926T>A (p.Leu309His)	PEX10 (L184H +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2034381	NM_002617.4(PEX10):c.924C>T (p.Pro308=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1661359	NM_002617.4(PEX10):c.924C>A (p.Pro308=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1464238	NM_002617.4(PEX10):c.922C>T (p.Pro308Ser)	PEX10 (P164S +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1515381	NM_002617.4(PEX10):c.919T>C (p.Cys307Arg)	PEX10 (C163R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1083080	NM_002617.4(PEX10):c.918G>A (p.Glu306=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1465507	NM_002617.4(PEX10):c.916del (p.Glu306fs)	PEX10 (E162fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely pathogenic
Select item 286858	NM_002617.4(PEX10):c.915G>A (p.Ala305=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2151662	NM_002617.4(PEX10):c.914C>T (p.Ala305Val)	PEX10 (A305V +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 1521300	NM_002617.4(PEX10):c.913G>A (p.Ala305Thr)	PEX10 (A325T +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 3240082	NM_002617.4(PEX10):c.913-1G>A	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 555812	NM_002617.4(PEX10):c.913-2A>C	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 597492	NM_002617.4(PEX10):c.913-3C>T	PEX10	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262791	NM_002617.4(PEX10):c.913-4G>A	PEX10	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1137726	NM_002617.4(PEX10):c.913-5C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 991788	NM_002617.4(PEX10):c.913-9T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2414453	NM_002617.4(PEX10):c.913-11C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2988475	NM_002617.4(PEX10):c.913-15_913-14del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2170651	NM_002617.4(PEX10):c.913-14T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1625206	NM_002617.4(PEX10):c.913-15T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1560237	NM_002617.4(PEX10):c.913-16T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1537274	NM_002617.4(PEX10):c.913-17_913-16del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2170652	NM_002617.4(PEX10):c.913-17del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GBenign
Select item 1896696	NM_002617.4(PEX10):c.913-17C>G	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2754577	NM_002617.4(PEX10):c.913-19C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2711670	NM_002617.4(PEX10):c.913-20C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1231445	NM_002617.4(PEX10):c.913-264G>C	PEX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213636	NM_002617.4(PEX10):c.913-287C>T	PEX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320357	NM_002617.4(PEX10):c.912+48G>A	PEX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806013	NM_002617.4(PEX10):c.912+20C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2793043	NM_002617.4(PEX10):c.912+19G>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1566066	NM_002617.4(PEX10):c.912+18T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1620259	NM_002617.4(PEX10):c.912+17C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1665608	NM_002617.4(PEX10):c.912+14C>A	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1462121	NM_002617.4(PEX10):c.912+13C>G	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1540900	NM_002617.4(PEX10):c.912+10del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 1953096	NM_002617.4(PEX10):c.912+8G>A	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 557020	NM_002617.4(PEX10):c.912+1G>A	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 554342	NM_002617.4(PEX10):c.912+1G>C	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 2142608	NM_002617.4(PEX10):c.911A>G (p.Lys304Arg)	PEX10 (K179R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2789425	NM_002617.4(PEX10):c.909C>T (p.Ser303=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2050570	NM_002617.4(PEX10):c.907_908insCTTA (p.Ser303delinsThrTer)	PEX10	Insertion (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1410888	NM_002617.4(PEX10):c.908G>C (p.Ser303Thr)	PEX10 (S322T +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2157391	NM_002617.4(PEX10):c.905G>A (p.Ser302Asn)	PEX10 (S177N +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2769407	NM_002617.4(PEX10):c.903del (p.Trp300_Cys301insTer)	PEX10	Deletion (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2781765	NM_002617.4(PEX10):c.899G>A (p.Trp300Ter)	PEX10 (W156* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 876431	NM_002617.4(PEX10):c.899G>T (p.Trp300Leu)	PEX10 (W175L +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 1094404	NM_002617.4(PEX10):c.897G>A (p.Ala299=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 283862	NM_002617.4(PEX10):c.896C>T (p.Ala299Val)	PEX10 (A319V +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GConflicting classifications of pathogenicity
Select item 1029463	NM_002617.4(PEX10):c.895G>A (p.Ala299Thr)	PEX10 (A155T +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 788258	NM_002617.4(PEX10):c.894C>T (p.Thr298=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GLikely benign
Select item 1583493	NM_002617.4(PEX10):c.888C>T (p.Cys296=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2759523	NM_002617.4(PEX10):c.887del (p.Cys296fs)	PEX10 (C152fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1941113	NM_002617.4(PEX10):c.885G>A (p.Glu295=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 3240081	NM_002617.4(PEX10):c.882G>A (p.Trp294Ter)	PEX10 (W150* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2094184	NM_002617.4(PEX10):c.882G>C (p.Trp294Cys)	PEX10 (W150C +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2677649	NM_002617.4(PEX10):c.881G>A (p.Trp294Ter)	PEX10 (W150* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GPathogenic
Select item 551349	NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del)	PEX10 (C313del +4 more)	Microsatellite (inframe_deletion +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 2893573	NM_002617.4(PEX10):c.858_870del (p.Pro287fs)	PEX10 (P162fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 6771	NM_002617.4(PEX10):c.870C>G (p.His290Gln)	PEX10 (H290Q +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6B	GPathogenic
Select item 2429314	NM_002617.4(PEX10):c.868dup (p.His290fs)	PEX10 (H146fs +4 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder +1 more	GPathogenic/Likely pathogenic

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