PEX26[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 152141	GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	LOC130066920, LOC130066917 +112 more	Copy number gain	See cases	GPathogenic
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	ADA2, ATP6V1E1 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 154503	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 154375	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4	ADA2, ATP6V1E1 +121 more	Copy number gain	See cases	GPathogenic
Select item 144304	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	ADA2, ARVCF +227 more	Copy number loss	See cases	GPathogenic
Select item 144303	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	ADA2, ARVCF +227 more	Copy number gain	See cases	GPathogenic
Select item 144200	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	LINC01664, LINC02891 +226 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 57427	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 57203	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	ADA2, ARVCF +225 more	Copy number loss	See cases	GPathogenic
Select item 57202	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	ADA2, ARVCF +225 more	Copy number gain	See cases	GPathogenic
Select item 57029	GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	LOC132090637, LOC132090638 +292 more	Copy number gain	See cases	GPathogenic
Select item 150808	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3	ADA2, ATP6V1E1 +101 more	Copy number gain	See cases	GPathogenic
Select item 149666	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 149401	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144589	GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3	ADA2, ATP6V1E1 +151 more	Copy number gain	See cases	GPathogenic
Select item 59280	GRCh38/hg38 22q11.21(chr22:18050488-18955291)x3	DGCR6, FAM230A +29 more	Copy number gain	See cases	GPathogenic
Select item 1241190	NC_000022.11:g.18077804C>T	PEX26	Single nucleotide variant	not provided	GBenign
Select item 1187188	NC_000022.11:g.18077831T>C	PEX26	Single nucleotide variant	not provided	GLikely benign
Select item 1223869	NC_000022.11:g.18077845T>G	PEX26	Single nucleotide variant	not provided	GBenign
Select item 897514	NM_017929.5(PEX26):c.-207T>C	PEX26	Single nucleotide variant	Peroxisome biogenesis disorder 7A (Zellweger)	GUncertain significance
Select item 897515	NM_017929.5(PEX26):c.-203G>A	PEX26	Single nucleotide variant	Peroxisome biogenesis disorder 7A (Zellweger)	GUncertain significance
Select item 340744	NM_017929.5(PEX26):c.-167C>T	PEX26	Single nucleotide variant	Peroxisome biogenesis disorder 7A (Zellweger)	GUncertain significance
Select item 898667	NM_017929.5(PEX26):c.-164G>T	PEX26	Single nucleotide variant	Peroxisome biogenesis disorder 7A (Zellweger)	GUncertain significance
Select item 340745	NM_017929.5(PEX26):c.-148C>T	PEX26	Single nucleotide variant	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GBenign/Likely benign
Select item 340746	NM_001127649.3(PEX26):c.-381C>T	PEX26	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GUncertain significance
Select item 340747	NM_001127649.3(PEX26):c.-375G>A	PEX26	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GUncertain significance
Select item 340748	NM_001127649.3(PEX26):c.-363G>C	PEX26	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 340749	NM_001127649.3(PEX26):c.-318A>G	LOC130066939, PEX26	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GBenign
Select item 898668	NM_001127649.3(PEX26):c.-80C>T	PEX26	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GUncertain significance
Select item 2934975	NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)	LOC130066940, PEX26	Indel (initiator_codon_variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely pathogenic
Select item 2156	NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)	LOC130066940, PEX26 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3048331	NM_001127649.3(PEX26):c.9C>T (p.Ser3=)	LOC130066940, PEX26	Single nucleotide variant (synonymous variant)	PEX26-related disorder	GLikely benign
Select item 1564703	NM_001127649.3(PEX26):c.12T>C (p.Asp4=)	LOC130066940, PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1564704	NM_001127649.3(PEX26):c.15T>C (p.Ser5=)	LOC130066940, PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1489424	NM_001127649.3(PEX26):c.17C>T (p.Ser6Leu)	LOC130066940, PEX26 (S6L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2924494	NM_001127649.3(PEX26):c.18G>A (p.Ser6=)	LOC130066940, PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1375426	NM_001127649.3(PEX26):c.20C>T (p.Thr7Ile)	LOC130066940, PEX26 (T7I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2677683	NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)	LOC130066940, PEX26 (R20fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 958385	NM_001127649.3(PEX26):c.23C>T (p.Ser8Phe)	LOC130066940, PEX26 (S8F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2921344	NM_001127649.3(PEX26):c.28del (p.Ala10fs)	PEX26 (A10fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 2155	NM_001127649.3(PEX26):c.[34dup;669_814+1del]	PEX26 (L12fs)	Duplication (frameshift variant +3 more)	Peroxisome biogenesis disorder 7A (Zellweger)	GPathogenic
Select item 2154	NM_001127649.3(PEX26):c.34dup (p.Leu12fs)	PEX26 (L12fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +3 more	GPathogenic
Select item 1331348	NM_001127649.3(PEX26):c.34del (p.Leu12fs)	PEX26 (L12fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GPathogenic
Select item 281576	NM_001127649.3(PEX26):c.29C>T (p.Ala10Val)	PEX26 (A10V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GUncertain significance
Select item 2941891	NM_001127649.3(PEX26):c.30C>A (p.Ala10=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1674483	NM_001127649.3(PEX26):c.30C>T (p.Ala10=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 597480	NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu)	PEX26 (P11L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2087664	NM_001127649.3(PEX26):c.33C>T (p.Pro11=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 594669	NM_001127649.3(PEX26):c.33C>G (p.Pro11=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 1715343	NM_001127649.3(PEX26):c.35T>C (p.Leu12Pro)	PEX26 (L12P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1351402	NM_001127649.3(PEX26):c.35T>A (p.Leu12His)	PEX26 (L12H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2950510	NM_001127649.3(PEX26):c.36C>A (p.Leu12=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2944471	NM_001127649.3(PEX26):c.36C>G (p.Leu12=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1136259	NM_001127649.3(PEX26):c.36C>T (p.Leu12=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2925654	NM_001127649.3(PEX26):c.37_38del (p.Arg13fs)	PEX26 (R13fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 594220	NM_001127649.3(PEX26):c.38G>T (p.Arg13Met)	PEX26 (R13M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1569936	NM_001127649.3(PEX26):c.39G>A (p.Arg13=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1041651	NM_001127649.3(PEX26):c.40G>A (p.Gly14Arg)	PEX26 (G14R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2415592	NM_001127649.3(PEX26):c.43C>T (p.Leu15Phe)	PEX26 (L15F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7B +1 more	GUncertain significance
Select item 2942254	NM_001127649.3(PEX26):c.45C>T (p.Leu15=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1496335	NM_001127649.3(PEX26):c.47G>A (p.Gly16Glu)	PEX26 (G16E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1990243	NM_001127649.3(PEX26):c.48G>A (p.Gly16=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 593165	NM_001127649.3(PEX26):c.48G>T (p.Gly16=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 1367143	NM_001127649.3(PEX26):c.50G>A (p.Gly17Glu)	PEX26 (G17E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1469588	NM_001127649.3(PEX26):c.52C>T (p.Pro18Ser)	PEX26 (P18S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1348321	NM_001127649.3(PEX26):c.52C>A (p.Pro18Thr)	PEX26 (P18T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1518239	NM_001127649.3(PEX26):c.53C>T (p.Pro18Leu)	PEX26 (P18L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1958062	NM_001127649.3(PEX26):c.55C>T (p.Leu19=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1408740	NM_001127649.3(PEX26):c.56T>C (p.Leu19Pro)	PEX26 (L19P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2041000	NM_001127649.3(PEX26):c.57G>A (p.Leu19=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 999563	NM_001127649.3(PEX26):c.58C>G (p.Arg20Gly)	PEX26 (R20G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2201265	NM_001127649.3(PEX26):c.59G>A (p.Arg20His)	PEX26 (R20H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2130246	NM_001127649.3(PEX26):c.63C>T (p.Ser21=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1469828	NM_001127649.3(PEX26):c.66C>T (p.Ser22=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2946575	NM_001127649.3(PEX26):c.69G>A (p.Glu23=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2677689	NM_001127649.3(PEX26):c.71del (p.Pro24fs)	PEX26 (P24fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger)	GLikely pathogenic
Select item 2925655	NM_001127649.3(PEX26):c.73_79del (p.Val25fs)	PEX26 (V25fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 1042116	NM_001127649.3(PEX26):c.71C>T (p.Pro24Leu)	PEX26 (P24L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 594230	NM_001127649.3(PEX26):c.71C>G (p.Pro24Arg)	PEX26 (P24R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GUncertain significance
Select item 2954198	NM_001127649.3(PEX26):c.72G>A (p.Pro24=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1466795	NM_001127649.3(PEX26):c.74T>G (p.Val25Gly)	PEX26 (V25G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2048808	NM_001127649.3(PEX26):c.75G>A (p.Val25=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1522042	NM_001127649.3(PEX26):c.77G>T (p.Arg26Leu)	PEX26 (R26L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1448707	NM_001127649.3(PEX26):c.77G>A (p.Arg26His)	PEX26 (R26H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 938319	NM_001127649.3(PEX26):c.77G>C (p.Arg26Pro)	PEX26 (R26P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2933260	NM_001127649.3(PEX26):c.78C>G (p.Arg26=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1377238	NM_001127649.3(PEX26):c.79G>A (p.Ala27Thr)	PEX26 (A27T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2944483	NM_001127649.3(PEX26):c.84C>T (p.Val28=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2135469	NM_001127649.3(PEX26):c.84C>G (p.Val28=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1363781	NM_001127649.3(PEX26):c.86C>A (p.Pro29Gln)	PEX26 (P29Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 3050381	NM_001127649.3(PEX26):c.87G>T (p.Pro29=)	PEX26	Single nucleotide variant (synonymous variant)	PEX26-related disorder	GLikely benign
Select item 2947542	NM_001127649.3(PEX26):c.87G>C (p.Pro29=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2943548	NM_001127649.3(PEX26):c.87G>A (p.Pro29=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2949771	NM_001127649.3(PEX26):c.90C>T (p.Ala30=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign

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