PEX5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	LOC130007176, LOC130007283 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1260 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	LOC130007165, LOC130007166 +1260 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC132090038, LOC132090065 +1260 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1011 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC128772378, LOC129390429 +1259 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	GPR162, GPR182 +4840 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	A2ML1-AS1, ABCC9 +1259 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	LOC130007495, LOC130007496 +1244 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 152931	GRCh38/hg38 12p13.31(chr12:7055795-7428473)x3	ACSM4, C1R +18 more	Copy number gain	See cases	GUncertain significance
Select item 310402	NM_001351132.2(PEX5):c.-69C>T	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310403	NM_001351132.2(PEX5):c.-55C>G	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310404	NM_001351132.2(PEX5):c.-53T>C	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 881986	NM_001351132.2(PEX5):c.-49G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310405	NM_001351132.2(PEX5):c.-49G>T	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310406	NM_001351132.2(PEX5):c.-20C>G	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GBenign
Select item 310407	NM_001351132.2(PEX5):c.-17+21_-17+22insCCG	PEX5	Insertion (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 310408	NM_001351132.2(PEX5):c.-17+22_-17+40delinsCC	PEX5	Indel (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 310409	NM_001351132.2(PEX5):c.-17+40T>C	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 883149	NM_001351132.2(PEX5):c.-17+65C>G	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883150	NM_001351132.2(PEX5):c.-17+71G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883151	NM_001351132.2(PEX5):c.-17+102G>C	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310410	NM_001351132.2(PEX5):c.-17+151G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GLikely benign
Select item 310411	NM_001351132.2(PEX5):c.-17+185T>C	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310412	NM_001351132.2(PEX5):c.-17+188T>C	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 3357171	NM_001351132.2(PEX5):c.-17+231del	PEX5	Deletion (5 prime UTR variant +2 more)	PEX5-related disorder	GUncertain significance
Select item 310413	NM_001351132.2(PEX5):c.-17+240G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883928	NM_001351132.2(PEX5):c.-17+249C>T	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310414	NM_001351132.2(PEX5):c.-17+273G>T	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GLikely benign
Select item 310415	NM_001351132.2(PEX5):c.-17+290T>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 310416	NM_001351132.2(PEX5):c.-16-274G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883929	NM_001351132.2(PEX5):c.-16-149A>G	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 1291393	NM_001351132.2(PEX5):c.-16-100G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 595094	NM_001351132.2(PEX5):c.-5T>C	PEX5 (V20A)	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GUncertain significance
Select item 1383521	NM_001351132.2(PEX5):c.1A>G (p.Met1Val)	PEX5 (M1V)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 3417108	NM_001351132.2(PEX5):c.8T>C (p.Met3Thr)	PEX5 (M3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1955927	NM_001351132.2(PEX5):c.12G>A (p.Arg4=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 1530792	NM_001351132.2(PEX5):c.15G>A (p.Glu5=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 1480673	NM_001351132.2(PEX5):c.17T>C (p.Leu6Pro)	PEX5 (L6P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 3654948	NM_001351132.2(PEX5):c.18G>C (p.Leu6=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 3045375	NM_001351132.2(PEX5):c.18G>A (p.Leu6=)	PEX5	Single nucleotide variant (synonymous variant)	PEX5-related disorder	GLikely benign
Select item 2083927	NM_001351132.2(PEX5):c.20T>C (p.Val7Ala)	PEX5 (V7A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 3693727	NM_001351132.2(PEX5):c.23A>G (p.Glu8Gly)	PEX5 (E8G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1472706	NM_001351132.2(PEX5):c.24G>T (p.Glu8Asp)	PEX5 (E8D)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1524939	NM_001351132.2(PEX5):c.28G>C (p.Glu10Gln)	PEX5 (E10Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1481572	NM_001351132.2(PEX5):c.28G>A (p.Glu10Lys)	PEX5 (E10K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 2757117	NM_001351132.2(PEX5):c.30del (p.Glu10fs)	PEX5 (E10fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 2B	GPathogenic
Select item 2134803	NM_001351132.2(PEX5):c.32G>A (p.Cys11Tyr)	PEX5 (C11Y)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 2752911	NM_001351132.2(PEX5):c.33C>T (p.Cys11=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 93581	NM_001351132.2(PEX5):c.34G>A (p.Gly12Arg)	PEX5 (G12R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2838351	NM_001351132.2(PEX5):c.36G>C (p.Gly12=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 1611959	NM_001351132.2(PEX5):c.36G>A (p.Gly12=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2123881	NM_001351132.2(PEX5):c.37G>A (p.Gly13Ser)	PEX5 (G13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2112392	NM_001351132.2(PEX5):c.37G>C (p.Gly13Arg)	PEX5 (G13R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1369974	NM_001351132.2(PEX5):c.38G>T (p.Gly13Val)	PEX5 (G13V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 849259	NM_001351132.2(PEX5):c.41C>T (p.Ala14Val)	PEX5 (A14V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1598206	NM_001351132.2(PEX5):c.42C>T (p.Ala14=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 1442210	NM_001351132.2(PEX5):c.44A>G (p.Asn15Ser)	PEX5 (N15S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 883930	NM_001351132.2(PEX5):c.48G>C (p.Pro16=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 597925	NM_001351132.2(PEX5):c.48G>A (p.Pro16=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +1 more	GConflicting classifications of pathogenicity
Select item 2082711	NM_001351132.2(PEX5):c.54_69dup (p.Phe24fs)	PEX5 (F24fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 2B	GPathogenic
Select item 1542715	NM_001351132.2(PEX5):c.57G>A (p.Lys19=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2746788	NM_001351132.2(PEX5):c.60C>T (p.Leu20=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2145687	NM_001351132.2(PEX5):c.62C>T (p.Ala21Val)	PEX5 (A21V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1659999	NM_001351132.2(PEX5):c.63C>G (p.Ala21=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 742982	NM_001351132.2(PEX5):c.63C>T (p.Ala21=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 1343521	NM_001351132.2(PEX5):c.64G>A (p.Gly22Arg)	PEX5 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1603207	NM_001351132.2(PEX5):c.69C>T (p.His23=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 1592183	NM_001351132.2(PEX5):c.75C>T (p.Thr25=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2034747	NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter)	PEX5 (Q26*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 2B	GPathogenic
Select item 1303621	NM_001351132.2(PEX5):c.78G>C (p.Gln26His)	PEX5 (Q26H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1009785	NM_001351132.2(PEX5):c.79G>T (p.Asp27Tyr)	PEX5 (D27Y)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1516157	NM_001351132.2(PEX5):c.80A>G (p.Asp27Gly)	PEX5 (D27G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 93582	NM_001351132.2(PEX5):c.81C>T (p.Asp27=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +1 more	GConflicting classifications of pathogenicity
Select item 2736808	NM_001351132.2(PEX5):c.82_83insT (p.Lys28fs)	PEX5 (K28fs)	Insertion (frameshift variant)	Peroxisome biogenesis disorder 2B	GPathogenic
Select item 846108	NM_001351132.2(PEX5):c.83A>G (p.Lys28Arg)	PEX5 (K28R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 2710496	NM_001351132.2(PEX5):c.88del (p.Leu30fs)	PEX5 (L30fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 2B	GPathogenic
Select item 883931	NM_001351132.2(PEX5):c.88C>T (p.Leu30Phe)	PEX5 (L30F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 1485279	NM_001351132.2(PEX5):c.91C>T (p.Arg31Trp)	PEX5 (R31W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1401832	NM_001351132.2(PEX5):c.92G>A (p.Arg31Gln)	PEX5 (R31Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 2024115	NM_001351132.2(PEX5):c.93G>A (p.Arg31=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 1713812	NM_001351132.2(PEX5):c.99G>C (p.Glu33Asp)	PEX5 (E33D)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1633731	NM_001351132.2(PEX5):c.99G>A (p.Glu33=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 2908053	NM_001351132.2(PEX5):c.102A>G (p.Gly34=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 1577312	NM_001351132.2(PEX5):c.102A>T (p.Gly34=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 1583909	NM_001351132.2(PEX5):c.103T>C (p.Leu35=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 1385723	NM_001351132.2(PEX5):c.107G>A (p.Arg36Lys)	PEX5 (R36K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1058712	NM_001351132.2(PEX5):c.107G>C (p.Arg36Thr)	PEX5 (R36T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1931103	NM_001351132.2(PEX5):c.113G>T (p.Gly38Val)	PEX5 (G38V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1584663	NM_001351132.2(PEX5):c.114C>T (p.Gly38=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B	GLikely benign
Select item 1504820	NM_001351132.2(PEX5):c.115C>T (p.Pro39Ser)	PEX5 (P39S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1014355	NM_001351132.2(PEX5):c.115C>G (p.Pro39Ala)	PEX5 (P39A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 1454762	NM_001351132.2(PEX5):c.119G>A (p.Trp40Ter)	PEX5 (W40*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 2B	GPathogenic
Select item 1058003	NM_001351132.2(PEX5):c.120G>C (p.Trp40Cys)	PEX5 (W40C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 591863	NM_001351132.2(PEX5):c.126dup (p.Gly43fs)	PEX5 (G43fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1523213	NM_001351132.2(PEX5):c.121C>A (p.Pro41Thr)	PEX5 (P41T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1484275	NM_001351132.2(PEX5):c.121C>T (p.Pro41Ser)	PEX5 (P41S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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