"Illumina Laboratory Services, Illumina"[submitter] AND "PEX6"[gene] - ClinVar

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356786	NM_000287.4(PEX6):c.*438TAAA[1]	PEX6, GNMT	Microsatellite (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder +3 more	GConflicting classifications of pathogenicity
Select item 356787	NM_000287.4(PEX6):c.*407T>G	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 356788	NM_000287.4(PEX6):c.*368G>A	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 908244	NM_000287.4(PEX6):c.*343G>C	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 356789	NM_000287.4(PEX6):c.*319C>T	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 356790	NM_000287.4(PEX6):c.*212C>T	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 356791	NM_000287.4(PEX6):c.*168C>T	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 255741	NM_000287.4(PEX6):c.2936C>T (p.Ala979Val)	PEX6 (A979V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GBenign/Likely benign
Select item 356792	NM_000287.4(PEX6):c.2907G>C (p.Arg969=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 356793	NM_000287.4(PEX6):c.2877A>G (p.Gln959=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 92787	NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)	PEX6 (P939Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4B +5 more	GBenign
Select item 92786	NM_000287.4(PEX6):c.2814G>A (p.Glu938=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Heimler syndrome 2 +5 more	GBenign
Select item 235682	NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser)	PEX6 (A924S +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GBenign/Likely benign
Select item 356794	NM_000287.4(PEX6):c.2736G>A (p.Ala912=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290080	NM_000287.4(PEX6):c.2700C>T (p.Asn900=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 911080	NM_000287.4(PEX6):c.2697A>G (p.Val899=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 255739	NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)	PEX6 (V882I +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GBenign/Likely benign
Select item 911081	NM_000287.4(PEX6):c.2642G>A (p.Arg881His)	PEX6 (R793H +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 911082	NM_000287.4(PEX6):c.2601G>T (p.Leu867=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 911083	NM_000287.4(PEX6):c.2547C>T (p.Asn849=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 595189	NM_000287.4(PEX6):c.2531T>C (p.Val844Ala)	PEX6 (V844A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 911290	NM_000287.4(PEX6):c.2471+5G>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 167463	NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)	PEX6 (A809V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +5 more	GBenign/Likely benign
Select item 92785	NM_000287.4(PEX6):c.2364G>A (p.Val788=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Heimler syndrome 2 +5 more	GBenign
Select item 193806	NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)	PEX6 (P728L +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +4 more	GConflicting classifications of pathogenicity
Select item 911291	NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)	PEX6 (R644Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +4 more	GUncertain significance
Select item 596185	NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln)	PEX6 (R626Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 198709	NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	PEX6 (R601Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +8 more	GConflicting classifications of pathogenicity
Select item 632484	NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)	PEX6 (R601W +1 more)	Single nucleotide variant (missense variant +1 more)	PEX6-related condition +4 more	GConflicting classifications of pathogenicity
Select item 356795	NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)	PEX6 (T573I +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +5 more	GConflicting classifications of pathogenicity
Select item 502786	NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser)	PEX6 (N557S +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GConflicting classifications of pathogenicity
Select item 255738	NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)	PEX6 (A549V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 499616	NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp)	PEX6 (R536W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 92780	NM_000287.4(PEX6):c.1480-5C>T	PEX6	Single nucleotide variant (intron variant)	Heimler syndrome 2 +5 more	GBenign/Likely benign
Select item 908305	NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu)	PEX6 (P472L +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 356796	NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala)	PEX6 (T463A +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GUncertain significance
Select item 908306	NM_000287.4(PEX6):c.1367+10G>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 765698	NM_000287.4(PEX6):c.1365A>G (p.Pro455=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 224321	NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)	PEX6 (E439fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +5 more	GPathogenic
Select item 356797	NM_000287.4(PEX6):c.1234-8_1234-7dup	PEX6	Duplication (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 356798	NM_000287.4(PEX6):c.1234-10C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 356799	NM_000287.4(PEX6):c.1234-11A>G	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 551451	NM_000287.4(PEX6):c.1130+2T>C	PEX6	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 4B +2 more	GConflicting classifications of pathogenicity
Select item 356800	NM_000287.4(PEX6):c.1110A>G (p.Gly370=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 909154	NM_000287.4(PEX6):c.1092A>G (p.Gln364=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 909155	NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr)	PEX6 (I274T +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 92778	NM_000287.4(PEX6):c.1071A>G (p.Leu357=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 356801	NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln)	PEX6 (R343Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +2 more	GBenign/Likely benign
Select item 356802	NM_000287.4(PEX6):c.939T>C (p.Pro313=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +3 more	GConflicting classifications of pathogenicity
Select item 92791	NM_000287.4(PEX6):c.883-3T>C	PEX6	Single nucleotide variant (intron variant)	Heimler syndrome 2 +5 more	GBenign
Select item 193076	NM_000287.4(PEX6):c.870G>C (p.Glu290Asp)	PEX6 (E290D)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GUncertain significance
Select item 285539	NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)	PEX6 (P285A)	Single nucleotide variant (missense variant +2 more)	PEX6-related condition +4 more	GConflicting classifications of pathogenicity
Select item 255743	NM_000287.4(PEX6):c.813G>T (p.Ala271=)	PEX6	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GBenign/Likely benign
Select item 356803	NM_000287.4(PEX6):c.718G>A (p.Ala240Thr)	PEX6 (A240T)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GUncertain significance
Select item 356804	NM_000287.4(PEX6):c.690G>A (p.Glu230=)	PEX6	Single nucleotide variant (synonymous variant +2 more)	PEX6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 911149	NM_000287.4(PEX6):c.681G>A (p.Gln227=)	PEX6	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 356805	NM_000287.4(PEX6):c.503C>T (p.Pro168Leu)	PEX6 (P168L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GUncertain significance
Select item 911150	NM_000287.4(PEX6):c.410G>C (p.Arg137Pro)	PEX6 (R137P)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 92789	NM_000287.4(PEX6):c.399G>T (p.Val133=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Heimler syndrome 2 +5 more	GBenign/Likely benign
Select item 92788	NM_000287.4(PEX6):c.330C>G (p.Thr110=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 911354	NM_000287.4(PEX6):c.302C>G (p.Pro101Arg)	PEX6 (P101R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 356806	NM_000287.4(PEX6):c.295C>T (p.Arg99Trp)	PEX6 (R99W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GUncertain significance
Select item 794739	NM_000287.4(PEX6):c.235G>A (p.Ala79Thr)	PEX6 (A79T)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GConflicting classifications of pathogenicity
Select item 92784	NM_000287.4(PEX6):c.235G>C (p.Ala79Pro)	PEX6 (A79P)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GBenign/Likely benign
Select item 92783	NM_000287.4(PEX6):c.210G>A (p.Gly70=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	PEX6-related condition +6 more	GBenign/Likely benign
Select item 92782	NM_000287.4(PEX6):c.207C>T (p.Pro69=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 631980	NM_000287.4(PEX6):c.170T>C (p.Leu57Pro)	PEX6 (L57P)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +2 more	GLikely pathogenic
Select item 911355	NM_000287.4(PEX6):c.106C>A (p.Leu36Met)	PEX6 (L36M)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 908377	NM_000287.4(PEX6):c.76G>C (p.Gly26Arg)	PEX6 (G26R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +1 more	GUncertain significance
Select item 908378	NM_000287.4(PEX6):c.49C>A (p.Pro17Thr)	PEX6 (P17T)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +1 more	GUncertain significance
Select item 502417	NM_000287.4(PEX6):c.25C>T (p.Leu9=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 356807	NM_000287.3(PEX6):c.-39G>A	PEX6	Single nucleotide variant	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 356808	NM_000287.3(PEX6):c.-55C>T	PEX6	Single nucleotide variant	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GBenign
Select item 356809	NM_000287.3(PEX6):c.-62C>A	PEX6	Single nucleotide variant	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 356810	NM_000287.3(PEX6):c.-71C>G	PEX6	Single nucleotide variant	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 356811	NM_000287.3(PEX6):c.-79C>T	PEX6	Single nucleotide variant	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GUncertain significance

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Items: 76