Full data view for gene PEX10

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_153818.1 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.2343941T>C g.2412502T>C - - PEX10_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.2343940A>G g.2412501A>G PEX10(NM_153818.1):c.2T>C (p.M1?) - PEX10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.2T>C r.2u>c p.0? Parent #1 - pathogenic (recessive) g.2343940A>G - - - PEX10_000024 - PubMed: Regal 2010 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD Pat2 PubMed: Regal 2010 - M - Belgium - - 0 - - 1 Nancy Braverman
+/. - c.3G>A r.(?) p.0? Parent #1 - pathogenic (recessive) g.2343939C>T - - - PEX10_000035 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.4del r.(?) p.(Ala2Profs*10) Parent #1 - pathogenic (recessive) g.2343938del - 4delG - PEX10_000001 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.4del r.(?) p.(Ala2Profs*10) Parent #1 - pathogenic (recessive) g.2343938del - 4delG - PEX10_000001 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat603 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.6C>G r.(?) p.(Ala2=) Unknown - likely benign g.2343936G>C g.2412497G>C PEX10(NM_153818.1):c.6C>G (p.A2=) - PEX10_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.13_28delinsCCGCCAGCACCTGCGCCGCC r.13_28delinsccgccagcaccugcgccgcc p.Ala5Profs*47 Parent #1 - pathogenic (recessive) g.2343914_2343929delinsGGCGGCGCAGGTGCTGGCGG - 13_28delinsCCGCCAGCACCTGCGCCGCC - PEX10_000010 - PubMed: Warren 2000 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD117 PubMed: Warren 2000 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.52G>A r.(?) p.(Asp18Asn) Parent #2 - pathogenic (recessive) g.2343890C>T - - - PEX10_000018 - - - - Germline - - - 0 - DNA SEQ - - PBD patient - - - - United States - - 0 - - 1 Nancy Braverman
-?/. - c.92G>A r.(?) p.(Gly31Asp) Unknown - likely benign g.2343850C>T g.2412411C>T PEX10(NM_002617.3):c.92G>A (p.(Gly31Asp)) - PEX10_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136A>G r.(?) p.(Arg46Gly) Unknown - VUS g.2341867T>C g.2410428T>C PEX10(NM_153818.1):c.136A>G (p.R46G) - PEX10_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.203C>A r.(?) p.(Thr68Asn) Unknown - pathogenic (recessive) g.2340288G>T - - - PEX10_000025 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+/. 3 c.208G>C r.(?) p.(Gly70Arg) Parent #1 - pathogenic (recessive) g.2340283C>G - - - PEX10_000027 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+/. 3 c.211G>A r.(?) p.(Glu71Lys) Both (homozygous) - pathogenic (recessive) g.2340280C>T - - - PEX10_000026 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+/. 3 c.233A>G r.(?) p.(Gln78Arg) Both (homozygous) - pathogenic (recessive) g.2340258T>C - - - PEX10_000028 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
-/. - c.279C>T r.(?) p.(Gly93=) Unknown - benign g.2340212G>A g.2408773G>A PEX10(NM_153818.1):c.279C>T (p.G93=) - PEX10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.279C>T r.(?) p.(Gly93=) Unknown - benign g.2340212G>A g.2408773G>A PEX10(NM_153818.1):c.279C>T (p.G93=) - PEX10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.279C>T r.(=) p.(=) Unknown - benign g.2340212G>A - - - PEX10_000011 - PubMed: Steinberg 2004 - rs1143016 Germline - 0.06 - 0 - DNA SEQ - - Healthy/Control control PubMed: Steinberg 2004 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.291A>G r.(?) p.(Thr97=) Unknown - benign g.2340200T>C g.2408761T>C PEX10(NM_153818.1):c.291A>G (p.T97=) - PEX10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.291A>G r.(=) p.(=) Unknown - benign g.2340200T>C - 291G>A - PEX10_000012 - PubMed: Steinberg 2004 - rs2494598 Germline - 0.78 - 0 - DNA SEQ - - Healthy/Control controls PubMed: Steinberg 2004 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.316C>T r.(?) p.(Leu106=) Unknown - likely benign g.2340175G>A g.2408736G>A PEX10(NM_153818.1):c.316C>T (p.L106=) - PEX10_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.318G>A r.(?) p.(Leu106=) Unknown - benign g.2340173C>T g.2408734C>T PEX10(NM_153818.1):c.318G>A (p.L106=) - PEX10_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.337del r.(?) p.(Leu113Trpfs*40) Paternal (confirmed) - pathogenic (recessive) g.2340154del - 337delC - PEX10_000022 - PubMed: Steinberg 2009 - - Germline - - - 0 - DNA SEQ - - PBD PBD687 PubMed: Steinberg 2009 - F - United States - - 0 - - 1 Johan den Dunnen
+/. 3 c.352C>T r.(?) p.(Gln118*) Both (homozygous) - pathogenic (recessive) g.2340139G>A - - - PEX10_000029 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+/. 3 c.373C>T r.373c>u p.Arg125* Parent #1 - pathogenic (recessive) g.2340118G>A - 405C>T - PEX10_000006 reduced RNA expression PubMed: Warren 1998 - - Germline - - - 0 - DNA SEQ - - PBD PBD052 PubMed: Warren 1998 - - - - - - 0 - - 1 Nancy Braverman
-?/. - c.407G>A r.(?) p.(Arg136His) Unknown - likely benign g.2340084C>T g.2408645C>T PEX10(NM_153818.1):c.407G>A (p.R136H) - PEX10_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435G>A r.(?) p.(Met145Ile) Unknown - likely benign g.2340056C>T g.2408617C>T PEX10(NM_153818.1):c.435G>A (p.M145I) - PEX10_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.446C>T r.(?) p.(Thr149Met) Unknown - VUS g.2340045G>A g.2408606G>A PEX10(NM_153818.1):c.446C>T (p.T149M) - PEX10_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.492C>G r.(?) p.(Val164=) Unknown - likely benign g.2339999G>C - PEX10(NM_153818.1):c.492C>G (p.V164=) - PEX10_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.595A>C r.(?) p.(Thr199Pro) Unknown - VUS g.2339896T>G g.2408457T>G PEX10(NM_002617.3):c.595A>C (p.(Thr199Pro)) - PEX10_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3i c.600+1G>A r.r.194_600del p.Gly65fs Both (homozygous) - pathogenic (recessive) g.2339890C>T - - - PEX10_000008 - PubMed: Warren 1998 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD100 PubMed: Warren 1998 - - - - - - 0 - - 1 Nancy Braverman
?/. - c.664C>A r.(?) p.(Arg222Ser) Unknown - VUS g.2338331G>T g.2406892G>T PEX10(NM_153818.1):c.664C>A (p.R222S) - PEX10_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.688G>A r.(?) p.(Asp230Asn) Unknown - VUS g.2338307C>T g.2406868C>T PEX10(NM_153818.1):c.688G>A (p.D230N) - PEX10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.697del r.(?) p.(Ala233Profs*131) Both (homozygous) - pathogenic (recessive) g.2338298del - 697delG - PEX10_000030 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+/. - c.706dup r.(?) p.(Ser236Lysfs*123) Both (homozygous) - pathogenic (recessive) g.2338289dup - 646_647insA - PEX10_000036 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.745G>C r.(?) p.(Val249Leu) Unknown - benign g.2338250C>G g.2406811C>G PEX10(NM_153818.1):c.745G>C (p.V249L) - PEX10_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.764dup r.(?) p.(Leu256Alafs*103) Parent #1 - pathogenic (recessive) g.2338231dup - 705insA - PEX10_000003 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 4 c.764dup r.764dup p.Leu256Alafs*103 Parent #1 - pathogenic (recessive) g.2338231dup - c.764_765insA - PEX10_000003 - PubMed: Regal 2010 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD Pat1 PubMed: Regal 2010 - M - Belgium - - 0 - - 1 Nancy Braverman
+/. - c.764dup r.764dup p.Leu256Alafs*103 Parent #2 - pathogenic (recessive) g.2338231dup - 704_705insA - PEX10_000003 - PubMed: Warren 2000 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD117 PubMed: Warren 2000 - - - - - - 0 - - 1 Nancy Braverman
+/. 4 c.764dupA r.(?) p.(Leu256Alafs*103) Parent #1 - pathogenic (recessive) g.2338231dupT - 705insA - PEX10_000020 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.765dup r.(?) p.(Leu256Alafs*103) Parent #1 - pathogenic (recessive) g.2338230dup - 704_705insA - PEX10_000070 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat652 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.772G>C r.(?) p.(Gly258Arg) Unknown - VUS g.2338223C>G g.2406784C>G PEX10(NM_153818.1):c.772G>C (p.G258R) - PEX10_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.772G>C r.(?) p.(Gly258Arg) Unknown - likely benign g.2338223C>G g.2406784C>G PEX10(NM_153818.1):c.772G>C (p.G258R) - PEX10_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.785G>A r.(?) p.(Arg262Gln) Unknown - VUS g.2338210C>T g.2406771C>T PEX10(NM_153818.1):c.785G>A (p.R262Q) - PEX10_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.790C>T r.(?) p.(Arg264Ter) Unknown - pathogenic g.2338205G>A g.2406766G>A PEX10(NM_153818.1):c.790C>T (p.R264*) - PEX10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.790C>T r.(?) p.(Arg264*) Both (homozygous) - pathogenic (recessive) g.2338205G>A - 730C>T (Arg244X) - PEX10_000005 - PubMed: Krause 2006 - - Germline - - - 0 - DNA SEQ - - PBD PBD-HR7 PubMed: Krause 2006 - M - Turkey - - 0 - - 1 Nancy Braverman
+/. 4 c.790C>T r.0 p.0 Parent #1 - pathogenic (recessive) g.2338205G>A - 730C>T (Arg244X) - PEX10_000005 no RNA detectable PubMed: Krause 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD-HR8 PubMed: Krause 2006 - F - Germany - - 0 - - 1 Nancy Braverman
+/. - c.790C>T r.(?) p.(Arg264*) Parent #2 - pathogenic (recessive) g.2338205G>A - 730 (R264X) - PEX10_000005 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.790C>T r.790c>u p.Arg264* Parent #2 - pathogenic (recessive) g.2338205G>A - - - PEX10_000005 - PubMed: Regal 2010 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD Pat2 PubMed: Regal 2010 - M - Belgium - - 0 - - 1 Nancy Braverman
+/. - c.790C>T r.(?) p.(Arg264*) Parent #2 - pathogenic (recessive) g.2338205G>A - 730C>T - PEX10_000005 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat652 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.833G>A r.(?) p.(Arg278His) Unknown - VUS g.2338162C>T g.2406723C>T PEX10(NM_002617.3):c.773G>A (p.(Arg258His)), PEX10(NM_153818.1):c.833G>A (p.R278H) - PEX10_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.833G>A r.(?) p.(Arg278His) Unknown - likely benign g.2338162C>T - PEX10(NM_002617.3):c.773G>A (p.(Arg258His)), PEX10(NM_153818.1):c.833G>A (p.R278H) - PEX10_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.836+8C>T r.(=) p.(=) Unknown - likely benign g.2338151G>A g.2406712G>A PEX10(NM_153818.1):c.836+8C>T - PEX10_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66) Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Shimozawa 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD B-02 PubMed: Shimozawa 2003 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66) Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Shimozawa 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD B-03 PubMed: Shimozawa 2003 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66) Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Shimozawa 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD B-04 PubMed: Shimozawa 2003 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66) Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Shimozawa 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD B-05 PubMed: Shimozawa 2003 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66) Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Shimozawa 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD B-06 PubMed: Shimozawa 2003 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66) Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Shimozawa 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD B-07 PubMed: Shimozawa 2003 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66) Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Shimozawa 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD B-08 PubMed: Shimozawa 2003 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66) Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Shimozawa 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD B-09 PubMed: Shimozawa 2003 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66) Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Shimozawa 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD B-10 PubMed: Shimozawa 2003 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66) Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Shimozawa 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD B-11 PubMed: Shimozawa 2003 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.(?) p.(Leu292Valfs*66) Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Okumoto 1998,PubMed: Shimozawa 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBDB-01 PubMed: Okumoto 1998, PubMed: Shimozawa 2003 - M - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.874_875del p.Leu292Valfs*66 Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Warren 2000 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD116 PubMed: Warren 2000 - - - - - - 0 - - 1 Nancy Braverman
+/. 5 c.874_875del r.874_875del p.Leu292Valfs*66 Both (homozygous) - pathogenic (recessive) g.2338020_2338021del - 814_815delCT - PEX10_000009 - PubMed: Warren 2000 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD121 PubMed: Warren 2000 - - - - - - 0 - - 1 Nancy Braverman
-/. - c.880A>G r.(?) p.(Thr294Ala) Unknown - benign g.2338015T>C g.2406576T>C PEX10(NM_153818.1):c.880A>G (p.T294A) - PEX10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.880A>G r.(?) p.(Thr294Ala) Unknown - likely benign g.2338015T>C g.2406576T>C PEX10(NM_153818.1):c.880A>G (p.T294A) - PEX10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.880A>G r.(?) p.(Thr294Ala) Unknown - benign g.2338015T>C - 877A>G (T294A) - PEX10_000014 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
?/. - c.880A>G r.(?) p.(Thr294Ala) Paternal (confirmed) - VUS g.2338015T>C - - - PEX10_000014 - - - - Germline - - - 0 - DNA SEQ - - PBD PBD687 PubMed: Steinberg 2009 - F - United States - - 0 - - 1 Johan den Dunnen
-/. - c.880A>G r.(?) p.(Thr294Ala) Unknown - benign g.2338015T>C g.2406576T>C - - PEX10_000014 820A>G PubMed: Yik 2009 - - Germline - 0.03 - 0 - DNA SEQ - - PBD - PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.890T>C r.(?) p.(Leu297Pro) Maternal (inferred) - pathogenic (recessive) g.2338005A>G - - - PEX10_000023 - PubMed: Steinberg 2009 - - De novo - - - 0 - DNA SEQ - - PBD PBD687 PubMed: Steinberg 2009 - F - United States - - 0 - - 1 Johan den Dunnen
+/. - c.892G>T r.(?) p.(Glu298*) Parent #2 - pathogenic (recessive) g.2338003C>A - - - PEX10_000002 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 5 c.895G>T r.(?) p.(Glu299*) Parent #1 - pathogenic (recessive) g.2338000C>A - 835G>& (Glu279X) - PEX10_000019 - - - - Germline - - - 0 - DNA SEQ - - PBD patient - - - - United States - - 0 - - 1 Nancy Braverman
+/. - c.895G>T r.(?) p.(Glu299*) Parent #2 - pathogenic (recessive) g.2338000C>A - 835G>T - PEX10_000019 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat603 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.899G>A r.(?) p.(Arg300His) Unknown - VUS g.2337996C>T - PEX10(NM_153818.1):c.899G>A (p.R300H) - PEX10_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.928C>G r.(?) p.(His310Asp) Parent #2 - pathogenic (recessive) g.2337967G>C - 870 (H290D) - PEX10_000004 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.930C>G r.930c>g p.His310Gln Parent #2 - pathogenic (recessive) g.2337965G>C - 870C>G (H290Q) - PEX10_000007 - PubMed: Warren 1998 - - Germline - - - 0 - DNA SEQ - - PBD PBD052 PubMed: Warren 1998 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.941G>A r.914g>a p.Trp314* Parent #2 - pathogenic (recessive) g.2337954C>T - 881G>A (Trp294X) - PEX10_000017 - PubMed: Krause 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD-HR8 PubMed: Krause 2006 - F - Germany - - 0 - - 1 Nancy Braverman
-/. - c.973-4G>A r.spl? p.? Unknown - benign g.2337277C>T g.2405838C>T PEX10(NM_153818.1):c.973-4G>A - PEX10_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.979T>C r.(?) p.(Cys327Arg) Parent #1 - pathogenic (recessive) g.2337267A>G - 919T>C - PEX10_000037 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.992G>A r.(?) p.(Arg331Gln) Unknown - likely pathogenic g.2337254C>T g.2405815C>T PEX10(NM_153818.1):c.992G>A (p.R331Q) - PEX10_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.992G>A r.992g>a p.Arg331Gln Parent #2 - pathogenic (recessive) g.2337254C>T - - - PEX10_000021 - PubMed: Regal 2010 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD Pat1 PubMed: Regal 2010 - M - Belgium - - 0 - - 1 Nancy Braverman
-?/. - c.*6271A>G r.(=) p.(=) Unknown - likely benign g.2330934T>C g.2399495T>C RER1(NM_007033.4):c.267T>C (p.P89=) - RER1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*17433C>T r.(=) p.(=) Unknown - likely benign g.2319772G>A g.2388333G>A MORN1(NM_024848.3):c.153C>T (p.H51=) - MORN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17496G>A r.(=) p.(=) Unknown - likely benign g.2319709C>T g.2388270C>T MORN1(NM_024848.3):c.216G>A (p.T72=) - MORN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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