PEX13[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 591

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 60178	GRCh38/hg38 2p16.1-15(chr2:59224998-61621710)x1	BCL11A, C2orf74 +85 more	Copy number loss	See cases	GPathogenic
Select item 57148	GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1	B3GNT2, BCL11A +118 more	Copy number loss	See cases	GPathogenic
Select item 58870	GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3	BCL11A, C2orf74 +96 more	Copy number gain	See cases	GUncertain significance
Select item 150334	GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3	BCL11A, C2orf74 +72 more	Copy number gain	See cases	GLikely pathogenic
Select item 148468	GRCh38/hg38 2p16.1-15(chr2:60359313-61775405)x3	BCL11A, C2orf74 +73 more	Copy number gain	See cases	GUncertain significance
Select item 30226	NC_000002.12:g.60947640_61094952del	LOC129933826, LOC129933827 +4 more	Deletion	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 155243	GRCh38/hg38 2p16.1-15(chr2:60971634-61092510)x0	LOC129933826, LOC129933827 +4 more	Copy number loss	See cases	GPathogenic
Select item 1289711	NC_000002.12:g.61017528A>C	PEX13, PUS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 336660	NM_002618.3(PEX13):c.-68C>T	PUS10, PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 336661	NM_002618.4(PEX13):c.-12G>A	PUS10, PEX13	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 594837	NM_002618.4(PEX13):c.-7G>A	PEX13, PUS10	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 193235	NM_002618.4(PEX13):c.-6G>C	PEX13, PUS10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 1360335	NM_002618.4(PEX13):c.1A>G (p.Met1Val)	PEX13, PUS10 (M1V)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2818111	NM_002618.4(PEX13):c.6G>C (p.Ala2=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2112998	NM_002618.4(PEX13):c.6G>T (p.Ala2=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1412893	NM_002618.4(PEX13):c.8C>G (p.Ser3Cys)	PEX13, PUS10 (S3C)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1572021	NM_002618.4(PEX13):c.9C>G (p.Ser3=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 596659	NM_002618.4(PEX13):c.9C>T (p.Ser3=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1499072	NM_002618.4(PEX13):c.11A>C (p.Gln4Pro)	PEX13, PUS10 (Q4P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2114346	NM_002618.4(PEX13):c.12G>A (p.Gln4=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 862694	NM_002618.4(PEX13):c.14C>T (p.Pro5Leu)	PEX13, PUS10 (P5L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GUncertain significance
Select item 2825032	NM_002618.4(PEX13):c.18A>T (p.Pro6=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2805185	NM_002618.4(PEX13):c.20dup (p.Pro8fs)	PEX13, PUS10 (P8fs)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 595019	NM_002618.4(PEX13):c.18A>G (p.Pro6=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 2754296	NM_002618.4(PEX13):c.27del (p.Lys10fs)	PEX13, PUS10 (K10fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 1929426	NM_002618.4(PEX13):c.23C>T (p.Pro8Leu)	PEX13, PUS10 (P8L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 502757	NM_002618.4(PEX13):c.24C>A (p.Pro8=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2144227	NM_002618.4(PEX13):c.26C>A (p.Pro9His)	PEX13, PUS10 (P9H)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 289819	NM_002618.4(PEX13):c.26C>G (p.Pro9Arg)	PEX13, PUS10 (P9R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +2 more	GUncertain significance
Select item 2879038	NM_002618.4(PEX13):c.27C>G (p.Pro9=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2814698	NM_002618.4(PEX13):c.27C>T (p.Pro9=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1952502	NM_002618.4(PEX13):c.29A>T (p.Lys10Ile)	PEX13, PUS10 (K10I)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1422133	NM_002618.4(PEX13):c.29A>G (p.Lys10Arg)	PEX13, PUS10 (K10R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1368963	NM_002618.4(PEX13):c.31C>G (p.Pro11Ala)	PEX13, PUS10 (P11A)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1445805	NM_002618.4(PEX13):c.32C>G (p.Pro11Arg)	PEX13, PUS10 (P11R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 593168	NM_002618.4(PEX13):c.32C>A (p.Pro11His)	PEX13, PUS10 (P11H)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GUncertain significance
Select item 336662	NM_002618.4(PEX13):c.32C>T (p.Pro11Leu)	PEX13, PUS10 (P11L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +2 more	GUncertain significance
Select item 1623775	NM_002618.4(PEX13):c.33C>G (p.Pro11=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2864417	NM_002618.4(PEX13):c.42C>A (p.Thr14=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 960337	NM_002618.4(PEX13):c.43C>T (p.Arg15Cys)	PEX13, PUS10 (R15C)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1504503	NM_002618.4(PEX13):c.44G>A (p.Arg15His)	PEX13, PUS10 (R15H)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1535933	NM_002618.4(PEX13):c.45C>T (p.Arg15=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1144509	NM_002618.4(PEX13):c.45C>G (p.Arg15=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1372243	NM_002618.4(PEX13):c.46C>T (p.Arg16Ter)	PEX13, PUS10 (R16*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GPathogenic
Select item 591426	NM_002618.4(PEX13):c.58_69dup (p.Gly23_Pro24insAlaGlyProGly)	PEX13, PUS10	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1347391	NM_002618.4(PEX13):c.53C>T (p.Pro18Leu)	PEX13, PUS10 (P18L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1560629	NM_002618.4(PEX13):c.54G>T (p.Pro18=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 595682	NM_002618.4(PEX13):c.54G>A (p.Pro18=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1469235	NM_002618.4(PEX13):c.59C>G (p.Ala20Gly)	PEX13, PUS10 (A20G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2018962	NM_002618.4(PEX13):c.60C>T (p.Ala20=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1369983	NM_002618.4(PEX13):c.62G>A (p.Gly21Glu)	PEX13, PUS10 (G21E)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1353244	NM_002618.4(PEX13):c.64C>T (p.Pro22Ser)	PEX13, PUS10 (P22S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1450896	NM_002618.4(PEX13):c.66G>A (p.Pro22=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2103387	NM_002618.4(PEX13):c.67G>C (p.Gly23Arg)	PEX13, PUS10 (G23R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1908974	NM_002618.4(PEX13):c.68G>A (p.Gly23Glu)	PEX13, PUS10 (G23E)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 3012369	NM_002618.4(PEX13):c.69A>C (p.Gly23=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2765621	NM_002618.4(PEX13):c.69A>T (p.Gly23=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2082913	NM_002618.4(PEX13):c.70C>T (p.Pro24Ser)	PEX13, PUS10 (P24S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2030017	NM_002618.4(PEX13):c.84C>T (p.Pro28=)	PEX13, PUS10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2179497	NM_002618.4(PEX13):c.85A>G (p.Thr29Ala)	PEX13, PUS10 (T29A)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1356404	NM_002618.4(PEX13):c.86C>A (p.Thr29Asn)	PEX13, PUS10 (T29N)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1040499	NM_002618.4(PEX13):c.86C>G (p.Thr29Ser)	PEX13, PUS10 (T29S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 500639	NM_002618.4(PEX13):c.89T>C (p.Phe30Ser)	PEX13, PUS10 (F30S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +3 more	GUncertain significance
Select item 2749264	NM_002618.4(PEX13):c.92+1G>A	PEX13, PUS10	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely pathogenic
Select item 1512021	NM_002618.4(PEX13):c.92+6T>C	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2428463	NM_002618.4(PEX13):c.92+7G>T	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1554786	NM_002618.4(PEX13):c.92+10G>A	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1977614	NM_002618.4(PEX13):c.92+15C>T	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2106532	NM_002618.4(PEX13):c.92+16T>G	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2730752	NM_002618.4(PEX13):c.92+18C>A	PUS10, PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1576266	NM_002618.4(PEX13):c.92+20G>C	PEX13, PUS10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1254325	NM_002618.4(PEX13):c.92+100C>G	PUS10, PEX13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261906	NM_002618.4(PEX13):c.92+212A>G	PEX13, PUS10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1646586	NM_002618.4(PEX13):c.93-18A>C	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2817575	NM_002618.4(PEX13):c.93-12T>A	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2739582	NM_002618.4(PEX13):c.93-11T>C	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2794380	NM_002618.4(PEX13):c.93-8G>C	PEX13	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 1569928	NM_002618.4(PEX13):c.93-3dup	PEX13	Duplication (intron variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 2112372	NM_002618.4(PEX13):c.93-1G>A	PEX13	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely pathogenic
Select item 1444448	NM_002618.4(PEX13):c.94T>C (p.Ser32Pro)	PEX13 (S32P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1933598	NM_002618.4(PEX13):c.95C>A (p.Ser32Tyr)	PEX13 (S32Y)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1962035	NM_002618.4(PEX13):c.96T>A (p.Ser32=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 961191	NM_002618.4(PEX13):c.98C>A (p.Ala33Asp)	PEX13 (A33D)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1047652	NM_002618.4(PEX13):c.103T>A (p.Leu35Met)	PEX13 (L35M)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1324881	NM_002618.4(PEX13):c.107_120del (p.Gly36fs)	PEX13 (G36fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2070937	NM_002618.4(PEX13):c.113C>T (p.Thr38Ile)	PEX13 (T38I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1399247	NM_002618.4(PEX13):c.113C>A (p.Thr38Asn)	PEX13 (T38N)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GUncertain significance
Select item 2103856	NM_002618.4(PEX13):c.115T>G (p.Leu39Val)	PEX13 (L39V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1471612	NM_002618.4(PEX13):c.116T>C (p.Leu39Ser)	PEX13 (L39S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1992568	NM_002618.4(PEX13):c.119T>C (p.Met40Thr)	PEX13 (M40T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1388359	NM_002618.4(PEX13):c.121A>G (p.Thr41Ala)	PEX13 (T41A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1494256	NM_002618.4(PEX13):c.122C>T (p.Thr41Ile)	PEX13 (T41I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2015245	NM_002618.4(PEX13):c.123A>G (p.Thr41=)	PEX13	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GLikely benign
Select item 3347745	NM_002618.4(PEX13):c.124_128delinsCT (p.Arg42_Pro43delinsLeu)	PEX13	Indel (inframe_indel)	PEX13-related disorder	GUncertain significance

<< First< Prev

Page of 6