Full data view for gene ZMPSTE24

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_005857.4 transcript reference sequence.

191 entries on 2 pages. Showing entries 1 - 100.
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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     
-/. _1 c.-1269C>G r.(=) p.(=) Unknown - benign g.40722675C>G g.40257003C>G - - ZMPSTE24_000026 - PubMed: Halaschek-Wiener 2009 - rs7548758 Germline - 9/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
-/. _1 c.-1149G>A r.(=) p.(=) Unknown - benign g.40722795G>A g.40257123G>A - - ZMPSTE24_000025 - PubMed: Halaschek-Wiener 2009 - rs926830 Germline - 30/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
-/. _1 c.-954G>C r.(=) p.(=) Unknown - benign g.40722990G>C g.40257318G>C - - ZMPSTE24_000035 - PubMed: Halaschek-Wiener 2009 - rs147867849 Germline - 1/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
-/. _1 c.-522C>G r.(=) p.(=) Unknown - benign g.40723422C>G g.40257750C>G - - ZMPSTE24_000031 - PubMed: Halaschek-Wiener 2009 - rs11811211 Germline - 1/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
-?/. _1 c.-370G>T r.(=) p.(=) Parent #1 - likely benign g.40723574G>T g.40257902G>T - - ZMPSTE24_000050 not in 100 control chromosomes PubMed: Gaudy-Marqueste 2009 - rs312262683 Germline - 1/54 chromosomes - - - DNA SEQ - - ? 19645629-Pats PubMed: Gaudy-Marqueste 2009 27 patients - - France - - - - - 1 Johan den Dunnen
-/. _1 c.-326G>A r.(=) p.(=) Parent #1 - benign g.40723618G>A g.40257946G>A - - ZMPSTE24_000028 - PubMed: Gaudy-Marqueste 2009 - rs3765483 Germline - 2/54 chromosomes - - - DNA SEQ - - ? 19645629-Pats PubMed: Gaudy-Marqueste 2009 27 patients - - France - - - - - 2 Johan den Dunnen
-/. _1 c.-326G>A r.(=) p.(=) Parent #1 - benign g.40723618G>A g.40257946G>A - - ZMPSTE24_000028 - PubMed: Gaudy-Marqueste 2009 - rs3765483 Germline - 20/100 controls - - - DNA SEQ - - Healthy/Control 19645629-cons PubMed: Gaudy-Marqueste 2009 100 control individuals - - - European - - - - 20 Johan den Dunnen
-/. _1 c.-326G>A r.(=) p.(=) Unknown - benign g.40723618G>A g.40257946G>A - - ZMPSTE24_000028 - PubMed: Halaschek-Wiener 2009 - rs3765483 Germline - 9/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
-/. 1 c.-194A>G r.(=) p.(=) Unknown - benign g.40723750A>G g.40258078A>G - - ZMPSTE24_000027 - PubMed: Halaschek-Wiener 2009 - rs187549487 Germline - 1/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
-?/. - c.8T>C r.(?) p.(Met3Thr) Unknown - likely benign g.40723951T>C - ZMPSTE24(NM_005857.4):c.8T>C (p.(Met3Thr)) - ZMPSTE24_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.33G>A r.(?) p.(Trp11*) Unknown - likely pathogenic g.40723976G>A - - - ZMPSTE24_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.50del r.(?) p.(Lys17Serfs*21) Parent #1 - pathogenic g.40723993del g.40258321del - - ZMPSTE24_000021 - PubMed: Smigiel 20120, Smigiel ESHG2009 P02.101 - rs281875360 Germline yes - - - - DNA SEQ - - Healthy/Control 14121-father PubMed: Smigiel 20120, Smigiel ESHG2009 P02.101 2-generation family, unaffected carrierfather M no Poland - - - - - 1 Johan den Dunnen
+/. 1 c.50del r.(?) p.(Lys17Serfs*21) Paternal (confirmed) - pathogenic g.40723993del g.40258321del - - ZMPSTE24_000021 - PubMed: Smigiel 20120, Smigiel ESHG2009 P02.101 - rs281875360 Germline yes - - - - DNA SEQ - - RD 14121 PubMed: Smigiel 20120 2-generation family, first child, related to 14122 ? - Poland - - - - - 1 Johan den Dunnen
+/. 1 c.50del r.(?) p.(Lys17Serfs*21) Paternal (confirmed) - pathogenic g.40723993del g.40258321del - - ZMPSTE24_000021 - PubMed: Smigiel 20120, Smigiel ESHG2009 P02.101 - rs281875360 Germline yes - - - - DNA SEQ - - RD 14122 PubMed: Smigiel 20120 2-generation family, second child, related to 14121 ? - Poland - - - - - 1 Johan den Dunnen
+/. 1 c.54dup r.54dup p.Ile19Tyrfs*28 Paternal (confirmed) - pathogenic g.40723997dup g.40258325dup - - ZMPSTE24_000007 not in 100 control chromosomes PubMed: Moulson 2006, PubMed: Miner 2010, OMIM:var0007 - rs281875361 Germline - - - - - DNA, RNA DHPLC, RT-PCR, SEQ - - RD FamD PubMed: Moulson 2006, PubMed: Miner 2010, {OMIM606480:0007 2 related families (mothers have brother grandfathers), 5 affecteds from two unaffected heterozygous parent couples, unaffected heterozygous brother ? - United States Mennonite - - - - 10 Johan den Dunnen
+/. 1 c.54dup r.54dup p.Ile19Tyrfs*28 Maternal (confirmed) - pathogenic g.40723997dup g.40258325dup - - ZMPSTE24_000007 not in 100 control chromosomes PubMed: Moulson 2006, PubMed: Miner 2010, OMIM:var0007 - rs281875361 Germline - - - - - DNA, RNA DHPLC, RT-PCR, SEQ - - RD FamD PubMed: Moulson 2006, PubMed: Miner 2010, {OMIM606480:0007 2 related families (mothers have brother grandfathers), 5 affecteds from two unaffected heterozygous parent couples, unaffected heterozygous brother ? - United States Mennonite - - - - 10 Johan den Dunnen
+/. 1 c.54dup r.(?) p.(Ile19Tyrfs*28) Paternal (confirmed) - pathogenic g.40723997dup g.40258325dup - - ZMPSTE24_000007 - CNavarro, submitted - rs281875361 Germline - - - - - DNA SEQ - - RD ? CNavarro, submitted - F no - - - - - - 1 Claire Navarro
+/. 1 c.121C>T r.(?) p.(Glu41*) Maternal (confirmed) - pathogenic g.40724064C>T g.40258392C>T - - ZMPSTE24_000015 not in 200 control chromosomes PubMed: Miyoshi 2008, OMIM:var0004 - rs121908094 Germline - - - - - DNA SEQ - - MAD MAD3300.3 PubMed: Miyoshi 2008 sister of MAD3300.5 F no Japan - >7y - - - 1 Johan den Dunnen
+/. 1 c.121C>T r.(?) p.(Glu41*) Maternal (confirmed) - pathogenic g.40724064C>T g.40258392C>T - - ZMPSTE24_000015 not in 200 control chromosomes PubMed: Miyoshi 2008, OMIM:var0004 - rs121908094 Germline - - - - - DNA SEQ - - MAD MAD3300.5 PubMed: Miyoshi 2008 sister of MAD3300.3 F no Japan - >3y - - - 1 Johan den Dunnen
+/. 1 c.121C>T r.(?) p.Glu41* Unknown - pathogenic g.40724064C>T g.40258392C>T - - ZMPSTE24_000015 cloned in pRS416GPD, yeast STE24 complementation no activity PubMed: Miyoshi 2008 - rs121908094 Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123+8T>C r.(=) p.(=) Unknown - likely benign g.40724074T>C - ZMPSTE24(NM_005857.3):c.123+8T>C - ZMPSTE24_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.124-2A>C r.spl? p.? Parent #1 - likely pathogenic g.40726509A>C g.40260837A>C - - ZMPSTE24_000010 - - - rs312262684 Germline - - - - - DNA SEQ - - RD 2008-185-004 - - - - United States - - - - - 1 Tom Winder
-?/. - c.179A>G r.(?) p.(Asp60Gly) Unknown - likely benign g.40726566A>G - ZMPSTE24(NM_005857.4):c.179A>G (p.(Asp60Gly)) - ZMPSTE24_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.207_208del r.(?) p.(Tyr70Serfs*4) Paternal (inferred) - pathogenic g.40726594_40726595del g.40260922_40260923del 207_208delCT - ZMPSTE24_000052 de novo, in patient PubMed: Cunningham 2010 - rs281875362 De novo yes - - - - DNA SEQ - - MAD 20550970-Pat PubMed: Cunningham 2010 2-generation family, 1 affected M no (New Zealand) - - - - - 1 Johan den Dunnen
+/. 2 c.209_210del r.(?) p.(Tyr70Serfs*4) Paternal (confirmed) - pathogenic g.40726596_40726597del g.40260924_40260925del 209_210delAT - ZMPSTE24_000038 - CNavarro, submitted - rs281875363 Germline - - - - - DNA SEQ - - RD ? CNavarro, submitted - F yes Turkey - - - - - 1 Claire Navarro
+/. 2 c.209_210del r.(?) p.(Tyr70Serfs*4) Maternal (confirmed) - pathogenic g.40726596_40726597del g.40260924_40260925del 209_210delAT - ZMPSTE24_000038 - CNavarro, submitted - rs281875363 Germline - - - - - DNA SEQ - - RD ? CNavarro, submitted - F yes Turkey - - - - - 1 Claire Navarro
+/. 2i_5i c.271-1446_628-127del r.271_627del p.Leu91_Leu209del Parent #2 - pathogenic g.40732012_40737439del g.40266340_40271767del - - ZMPSTE24_000003 - PubMed: Navarro 2004, PubMed: Navarro 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - RD P4 PubMed: Navarro 2004, PubMed: Navarro 2005 - ? - Netherlands - - - - - 1 Johan den Dunnen
+/. 3 c.281T>C r.(?) p.(Leu94Pro) Parent #1 - pathogenic g.40733468T>C g.40267796T>C - - ZMPSTE24_000054 not in 200 control chromosomes PubMed: BenYaou 2011 - rs281875364 Germline yes - BslI+ - - DNA SEQ - - Healthy/Control 21267004-Patr PubMed: BenYaou 2011 2-generation family, unaffected carrier parents, brother and sister - yes Portugal - - - - - 4 Johan den Dunnen
+/. 3 c.281T>C r.(?) p.(Leu94Pro) Paternal (confirmed) - pathogenic g.40733468T>C g.40267796T>C - - ZMPSTE24_000054 not in 200 control chromosomes PubMed: BenYaou 2011 - rs281875364 Germline yes - BslI+ - - DNA SEQ - - MAD 21267004-Pat PubMed: BenYaou 2011 2-generation family, 1 affected, 2nd degree related parents F yes Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.281T>C r.(?) p.(Leu94Pro) Maternal (confirmed) - pathogenic g.40733468T>C g.40267796T>C - - ZMPSTE24_000054 not in 200 control chromosomes PubMed: BenYaou 2011 - rs281875364 Germline yes - BslI+ - - DNA SEQ - - MAD 21267004-Pat PubMed: BenYaou 2011 2-generation family, 1 affected, 2nd degree related parents F yes Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.296del r.(?) p.(Pro99Leufs*38) Parent #2 - pathogenic g.40733483del g.40267811del - - ZMPSTE24_000005 - PubMed: Navarro 2005 - rs281875365 Germline - - - - - DNA SEQ - - RD P12 PubMed: Navarro 2005 - ? - Italy - - - - - 1 Johan den Dunnen
-/. 3i c.357+114A>G r.(=) p.(=) Unknown - benign g.40733658A>G g.40267986A>G - - ZMPSTE24_000029 - PubMed: Halaschek-Wiener 2009 - rs7516571 Germline - 30/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
+?/. 4 c.401del r.(?) p.(Ser134Metfs*3) Unknown - likely pathogenic g.40734134del g.40268462del - - ZMPSTE24_000009 - - - rs281875366 Germline - - - - - DNA SEQ - - RD 2008-099-010 - - - - - - - - - - 1 Tom Winder
-?/. - c.453A>G r.(?) p.(Glu151=) Unknown - likely benign g.40734186A>G - ZMPSTE24(NM_005857.3):c.453A>G (p.E151=) - ZMPSTE24_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.474G>C r.(?) p.(Gln158His) Unknown - VUS g.40734207G>C - ZMPSTE24(NM_005857.3):c.474G>C (p.Q158H) - ZMPSTE24_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4i c.474+83A>C r.(=) p.(=) Parent #1 - benign g.40734290A>C g.40268618A>C - - ZMPSTE24_000030 - PubMed: Gaudy-Marqueste 2009 - rs75470795 Germline - 2/54 chromosomes - - - DNA SEQ - - ? 19645629-Pats PubMed: Gaudy-Marqueste 2009 27 patients - - France - - - - - 2 Johan den Dunnen
-/. 4i c.474+83A>C r.(=) p.(=) Parent #1 - benign g.40734290A>C g.40268618A>C - - ZMPSTE24_000030 - PubMed: Gaudy-Marqueste 2009 - rs75470795 Germline - 3/100 controls - - - DNA SEQ - - Healthy/Control 19645629-cons PubMed: Gaudy-Marqueste 2009 100 control individuals - - - European - - - - 3 Johan den Dunnen
-/. 4i c.474+83A>C r.(=) p.(=) Unknown - benign g.40734290A>C g.40268618A>C - - ZMPSTE24_000030 - PubMed: Halaschek-Wiener 2009 - rs75470795 Germline - 3/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
?/. - c.474+83A>C r.(=) p.(=) Parent #1 - VUS g.40734290A>C g.40268618A>C - - ZMPSTE24_000030 no interpretation available; 58 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75470795 Germline - 58/2779 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 58 Mohammed Faruq
+/. 4i c.475-2A>G r.spl p.(Val210Aspfs*21) Paternal (confirmed) - pathogenic g.40735645A>G g.40269973A>G - - ZMPSTE24_000043 - CNavarro, submitted - rs312262685 Germline - - - - - DNA SEQ - - RD ? CNavarro, submitted - M no - - - - - - 1 Claire Navarro
-?/. - c.535T>C r.(?) p.(Leu179=) Unknown - likely benign g.40735707T>C - ZMPSTE24(NM_005857.3):c.535T>C (p.L179=) - ZMPSTE24_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.591dup r.591dup p.Ile198Tyrfs*20 Paternal (confirmed) - pathogenic g.40735763dup g.40270091dup - - ZMPSTE24_000006 - PubMed: Moulson 2006, OMIM:var0008 - rs281875367 Germline - - - - - DNA, RNA DHPLC, RT-PCR, SEQ - - RD 16297189.C PubMed: Moulson 2006 unaffected heterozygous parents ? yes Guatemala - - - - - 3 Johan den Dunnen
+/. 5 c.591dup r.591dup p.Ile198Tyrfs*20 Parent #2 - pathogenic g.40735763dup g.40270091dup - - ZMPSTE24_000006 not in 100 control chromosomes PubMed: Moulson 2006, OMIM:var0008 - rs281875367 Germline - - - - - DNA, RNA RT-PCR, SEQ - - RD 16297189.D PubMed: Moulson 2006 archived DNA (paraffin-embedded) ? - Netherlands - - - - - 1 Johan den Dunnen
+/. 5 c.591dup r.591dup p.Ile198Tyrfs*20 Maternal (confirmed) - pathogenic g.40735763dup g.40270091dup - - ZMPSTE24_000006 not in 100 control chromosomes PubMed: Moulson 2006, OMIM:var0008 - rs281875367 Germline - - - - - DNA, RNA DHPLC, RT-PCR, SEQ - - RD 16297189.C PubMed: Moulson 2006 unaffected heterozygous parents ? yes Guatemala - - - - - 3 Johan den Dunnen
+/. 5 c.592_593del r.(?) p.(Ile198Leufs*19) Parent #1 - pathogenic g.40735764_40735765del g.40270092_40270093del 584_585delAT - ZMPSTE24_000020 - PubMed: Smigiel 20120, Smigiel ESHG2009 P02.101 - rs281875368 Germline yes - - - - DNA SEQ - - Healthy/Control 14121-mother PubMed: Smigiel 20120, Smigiel ESHG2009 P02.101 2-generation family, unaffected carrier mother F no Poland - - - - - 1 Johan den Dunnen
+/. 5 c.592_593del r.(?) p.(Ile198Leufs*19) Maternal (confirmed) - pathogenic g.40735764_40735765del g.40270092_40270093del 584_585delAT - ZMPSTE24_000020 - PubMed: Smigiel 20120, Smigiel ESHG2009 P02.101 - rs281875368 Germline yes - - - - DNA SEQ - - RD 14121 PubMed: Smigiel 20120 2-generation family, first child, related to 14122 ? - Poland - - - - - 1 Johan den Dunnen
+/. 5 c.592_593del r.(?) p.(Ile198Leufs*19) Maternal (confirmed) - pathogenic g.40735764_40735765del g.40270092_40270093del 584_585delAT - ZMPSTE24_000020 - PubMed: Smigiel 20120, Smigiel ESHG2009 P02.101 - rs281875368 Germline yes - - - - DNA SEQ - - RD 14122 PubMed: Smigiel 20120 2-generation family, second child, related to 14121 ? - Poland - - - - - 1 Johan den Dunnen
+/. 5i c.627+1G>C r.475_627del p.Thr159_Leu209del Parent #1 - pathogenic g.40735800G>C g.40270128G>C - - ZMPSTE24_000016 not in 180 control chromosomes (Dutch); RNA blood PubMed: Sander 2008 - - Germline - - DdeI+ - - DNA, RNA RT-PCR, SEQ - - RD 18671782.1 PubMed: Sander 2008 related to 18671782.2, grandparents second-degree cousins M yes United Arab Emirates - 45d - - - 1 Johan den Dunnen
+/. 5i c.627+1G>C r.475_627del p.Thr159_Leu209del Parent #1 - pathogenic g.40735800G>C g.40270128G>C - - ZMPSTE24_000016 not in 180 control chromosomes (Dutch); RNA blood PubMed: Sander 2008 - - Germline - - DdeI+ - - DNA, RNA RT-PCR, SEQ - - RD 18671782.2 PubMed: Sander 2008 related to 18671782.1, grandparents second-degree cousins ? yes United Arab Emirates - 56d - - - 1 Johan den Dunnen
+/. 5i c.627+1G>C r.475_627del p.Thr159_Leu209del Parent #2 - pathogenic g.40735800G>C g.40270128G>C - - ZMPSTE24_000016 not in 180 control chromosomes (Dutch); RNA blood PubMed: Sander 2008 - - Germline - - DdeI+ - - DNA, RNA RT-PCR, SEQ - - RD 18671782.1 PubMed: Sander 2008 related to 18671782.2, grandparents second-degree cousins M yes United Arab Emirates - 45d - - - 1 Johan den Dunnen
+/. 5i c.627+1G>C r.475_627del p.Thr159_Leu209del Parent #2 - pathogenic g.40735800G>C g.40270128G>C - - ZMPSTE24_000016 not in 180 control chromosomes (Dutch); RNA blood PubMed: Sander 2008 - - Germline - - DdeI+ - - DNA, RNA RT-PCR, SEQ - - RD 18671782.2 PubMed: Sander 2008 related to 18671782.1, grandparents second-degree cousins ? yes United Arab Emirates - 56d - - - 1 Johan den Dunnen
-/. 5i c.627+18T>G r.(=) p.(=) Parent #1 - benign g.40735817T>G g.40270145T>G - - ZMPSTE24_000032 - PubMed: Gaudy-Marqueste 2009 - rs16827109 Germline - 2/54 chromosomes - - - DNA SEQ - - ? 19645629-Pats PubMed: Gaudy-Marqueste 2009 27 patients - - France - - - - - 2 Johan den Dunnen
-/. 5i c.627+18T>G r.(=) p.(=) Parent #1 - benign g.40735817T>G g.40270145T>G - - ZMPSTE24_000032 - PubMed: Gaudy-Marqueste 2009 - rs16827109 Germline - 14/100 controls - - - DNA SEQ - - Healthy/Control 19645629-cons PubMed: Gaudy-Marqueste 2009 100 control individuals - - - European - - - - 14 Johan den Dunnen
-/. 5i c.627+18T>G r.(=) p.(=) Parent #1 - benign g.40735817T>G g.40270145T>G - - ZMPSTE24_000032 - PubMed: Gaudy-Marqueste 2009 - rs16827109 Germline - 1/100 controls - - - DNA SEQ - - Healthy/Control 19645629-cons PubMed: Gaudy-Marqueste 2009 100 control individuals - - - European - - - - 1 Johan den Dunnen
-/. 5i c.627+18T>G r.(=) p.(=) Parent #2 - benign g.40735817T>G g.40270145T>G - - ZMPSTE24_000032 - PubMed: Gaudy-Marqueste 2009 - rs16827109 Germline - 1/100 controls - - - DNA SEQ - - Healthy/Control 19645629-cons PubMed: Gaudy-Marqueste 2009 100 control individuals - - - European - - - - 1 Johan den Dunnen
-/. 5i c.627+18T>G r.(=) p.(=) Unknown - benign g.40735817T>G g.40270145T>G - - ZMPSTE24_000032 - PubMed: Halaschek-Wiener 2009 - rs16827109 Germline - 8/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
-/. 5i c.628-50T>C r.(=) p.(=) Parent #1 - benign g.40737516T>C g.40271844T>C - - ZMPSTE24_000051 - PubMed: Gaudy-Marqueste 2009 - rs6677717 Germline - 3/54 chromosomes - - - DNA SEQ - - ? 19645629-Pats PubMed: Gaudy-Marqueste 2009 27 patients - - France - - - - - 3 Johan den Dunnen
-/. 5i c.628-50T>C r.(=) p.(=) Parent #1 - benign g.40737516T>C g.40271844T>C - - ZMPSTE24_000051 - PubMed: Gaudy-Marqueste 2009 - rs6677717 Germline - 4/100 controls - - - DNA SEQ - - Healthy/Control 19645629-cons PubMed: Gaudy-Marqueste 2009 100 control individuals - - - European - - - - 4 Johan den Dunnen
-/. 5i c.628-50T>G r.(=) p.(=) Unknown - benign g.40737516T>G g.40271844T>G - - ZMPSTE24_000033 - PubMed: Halaschek-Wiener 2009 - rs6677717 Germline - 3/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
+/. 5i c.628-2A>G r.(?) p.(Thr159_Leu209del) Maternal (confirmed) - pathogenic g.40737564A>G g.40271892A>G - - ZMPSTE24_000041 - CNavarro, submitted - rs312262687 Germline - - - - - DNA SEQ - - RD ? CNavarro, submitted - M no - - - - - - 1 Claire Navarro
-/. 6 c.651T>C r.(?) p.(=) Parent #1 - benign g.40737589T>C g.40271917T>C 615T>C (D217D) - ZMPSTE24_000017 - PubMed: Gaudy-Marqueste 2009 - rs2076697 Germline - 5/54 chromosomes - - - DNA SEQ - - ? 19645629-Pats PubMed: Gaudy-Marqueste 2009 27 patients - - France - - - - - 5 Johan den Dunnen
-/. 6 c.651T>C r.(?) p.(=) Parent #1 - benign g.40737589T>C g.40271917T>C 615T>C (D217D) - ZMPSTE24_000017 - PubMed: Gaudy-Marqueste 2009 - rs2076697 Germline - 22/100 controls - - - DNA SEQ - - Healthy/Control 19645629-cons PubMed: Gaudy-Marqueste 2009 100 control individuals - - - European - - - - 22 Johan den Dunnen
-/. 6 c.651T>C r.(?) p.(=) Parent #1 - benign g.40737589T>C g.40271917T>C 615T>C (D217D) - ZMPSTE24_000017 - PubMed: Gaudy-Marqueste 2009 - rs2076697 Germline - 1/100 controls - - - DNA SEQ - - Healthy/Control 19645629-cons PubMed: Gaudy-Marqueste 2009 100 control individuals - - - European - - - - 1 Johan den Dunnen
-/. 6 c.651T>C r.(?) p.(=) Parent #2 - benign g.40737589T>C g.40271917T>C 615T>C (D217D) - ZMPSTE24_000017 - PubMed: Gaudy-Marqueste 2009 - rs2076697 Germline - 1/100 controls - - - DNA SEQ - - Healthy/Control 19645629-cons PubMed: Gaudy-Marqueste 2009 100 control individuals - - - European - - - - 1 Johan den Dunnen
-/. 6 c.651T>C r.(?) p.(=) Maternal (confirmed) - benign g.40737589T>C g.40271917T>C - - ZMPSTE24_000017 - PubMed: Miyoshi 2008 - rs2076697 Germline - - - - - DNA SEQ - - MAD MAD3300.3 PubMed: Miyoshi 2008 sister of MAD3300.5 F no Japan - >7y - - - 1 Johan den Dunnen
-/. 6 c.651T>C r.(?) p.(=) Maternal (confirmed) - benign g.40737589T>C g.40271917T>C - - ZMPSTE24_000017 - PubMed: Miyoshi 2008 - rs2076697 Germline - - - - - DNA SEQ - - MAD MAD3300.5 PubMed: Miyoshi 2008 sister of MAD3300.3 F no Japan - >3y - - - 1 Johan den Dunnen
-/. 6 c.651T>C r.(?) p.(=) Unknown - benign g.40737589T>C g.40271917T>C Asp217Asp - ZMPSTE24_000017 - PubMed: Halaschek-Wiener 2009 - rs2076697 Germline - 8/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
+/. 6 c.691G>T r.(?) p.(Glu231*) Paternal (inferred) - pathogenic g.40737629G>T g.40271957G>T - - ZMPSTE24_000014 - PubMed: Jagadeesh 2009 - rs281875369 Germline - - - - - DNA SEQ - - RD Fam1a PubMed: Jagadeesh 2009 1 of 3 affecteds Fam1 F no India South Indian 2d - - - 1 Parag Tamhankar
+/. 6 c.691G>T r.(?) p.(Glu231*) Paternal (inferred) - pathogenic g.40737629G>T g.40271957G>T - - ZMPSTE24_000014 - PubMed: Jagadeesh 2009 - rs281875369 Germline - - - - - DNA SEQ - - RD Fam1b PubMed: Jagadeesh 2009 1 of 3 affecteds Fam1 M no India South Indian - - - - 1 Parag Tamhankar
+/. 6 c.691G>T r.(?) p.(Glu231*) Paternal (inferred) - pathogenic g.40737629G>T g.40271957G>T - - ZMPSTE24_000014 - PubMed: Jagadeesh 2009 - rs281875369 Germline - - - - - DNA SEQ - - RD Fam1c PubMed: Jagadeesh 2009 1 of 3 affecteds Fam1 ? no India South Indian - - - - 1 Parag Tamhankar
+/. 6 c.691G>T r.(?) p.(Glu231*) Paternal (inferred) - pathogenic g.40737629G>T g.40271957G>T - - ZMPSTE24_000014 - PubMed: Jagadeesh 2009 - rs281875369 Germline - - - - - DNA SEQ - - RD Fam2 PubMed: Jagadeesh 2009 - M - India South Indian - - - - 1 Parag Tamhankar
+/. 6 c.691G>T r.(?) p.(Glu231*) Maternal (inferred) - pathogenic g.40737629G>T g.40271957G>T - - ZMPSTE24_000014 - PubMed: Jagadeesh 2009 - rs281875369 Germline - - - - - DNA SEQ - - RD Fam1a PubMed: Jagadeesh 2009 1 of 3 affecteds Fam1 F no India South Indian 2d - - - 1 Parag Tamhankar
+/. 6 c.691G>T r.(?) p.(Glu231*) Maternal (inferred) - pathogenic g.40737629G>T g.40271957G>T - - ZMPSTE24_000014 - PubMed: Jagadeesh 2009 - rs281875369 Germline - - - - - DNA SEQ - - RD Fam1b PubMed: Jagadeesh 2009 1 of 3 affecteds Fam1 M no India South Indian - - - - 1 Parag Tamhankar
+/. 6 c.691G>T r.(?) p.(Glu231*) Maternal (inferred) - pathogenic g.40737629G>T g.40271957G>T - - ZMPSTE24_000014 - PubMed: Jagadeesh 2009 - rs281875369 Germline - - - - - DNA SEQ - - RD Fam1c PubMed: Jagadeesh 2009 1 of 3 affecteds Fam1 ? no India South Indian - - - - 1 Parag Tamhankar
+/. 6 c.691G>T r.(?) p.(Glu231*) Maternal (inferred) - pathogenic g.40737629G>T g.40271957G>T - - ZMPSTE24_000014 - PubMed: Jagadeesh 2009 - rs281875369 Germline - - - - - DNA SEQ - - RD Fam2 PubMed: Jagadeesh 2009 - M - India South Indian - - - - 1 Parag Tamhankar
+/. 6 c.709G>T r.(?) p.(Glu237*) Maternal (confirmed) - pathogenic g.40737647G>T g.40271975G>T - - ZMPSTE24_000011 - PubMed: Saxena 2010 - rs281875370 Germline yes - MboII- - - DNA SEQ - - Healthy/Control ? PubMed: Saxena 2010 mother of proband with restrictive dermopathy F - India - - - - - 2 Renu Saxena
+?/. 6 c.709G>T r.(?) p.(Glu237*) Unknown - likely pathogenic g.40737647G>T g.40271975G>T - - ZMPSTE24_000011 - - - rs281875370 Germline - - - - - DNA SEQ - - RD 2008-234-007 - - - - (United States) - - - - - 1 Tom Winder
+?/. 6 c.709G>T r.(?) p.(Glu237*) Unknown - likely pathogenic g.40737647G>T g.40271975G>T - - ZMPSTE24_000011 - - - rs281875370 Germline - - - - - DNA SEQ - - RD 2008-234-007 - - - - (United States) - - - - - 1 Tom Winder
+/. 6 c.715G>T r.(?) p.(Glu239*) Parent #1 - pathogenic g.40737653G>T g.40271981G>T - - ZMPSTE24_000049 - PubMed: Chen 2009 - rs267607181 Germline yes - - - - DNA SEQ - - Healthy/Control 19504603-Patp PubMed: Chen 2009 4-generation family, unaffected (grand)parents - ? Taiwan Taiwan, Atayal - - - - 4 Johan den Dunnen
+/. 6 c.715G>T r.(?) p.(Glu239*) Paternal (confirmed) - pathogenic g.40737653G>T g.40271981G>T - - ZMPSTE24_000049 - PubMed: Chen 2009, OMIM:var0006 - rs267607181 Germline yes - - - - DNA SEQ - - RD 19504603-Pat PubMed: Chen 2009 4-generation family, 1 affected F ? Taiwan Taiwan, Atayal - - - - 1 Johan den Dunnen
+/. 6 c.715G>T r.(?) p.(Glu239*) Maternal (confirmed) - pathogenic g.40737653G>T g.40271981G>T - - ZMPSTE24_000049 - PubMed: Chen 2009, OMIM:var0006 - rs267607181 Germline yes - - - - DNA SEQ - - RD 19504603-Pat PubMed: Chen 2009 4-generation family, 1 affected F ? Taiwan Taiwan, Atayal - - - - 1 Johan den Dunnen
+/. 6 c.743C>T r.(?) p.(Pro248Leu) Parent #1 - pathogenic g.40737681C>T g.40272009C>T - - ZMPSTE24_000012 - PubMed: Ahmad 2010 - rs121908095 Germline yes - - - - DNA SEQ - - Healthy/Control MAD4700.3m PubMed: Ahmad 2010 2-generation family, unaffected carrier father M no United States - - - - - 1 Johan den Dunnen
+/. 6 c.743C>T r.(?) p.(Pro248Leu) Paternal (confirmed) - pathogenic g.40737681C>T g.40272009C>T - - ZMPSTE24_000012 not in 200 control chromosomes PubMed: Miyoshi 2008, OMIM:var0005 - rs121908095 Germline - - - - - DNA SEQ - - MAD MAD3300.3 PubMed: Miyoshi 2008 sister of MAD3300.5 F no Japan - >7y - - - 1 Johan den Dunnen
+/. 6 c.743C>T r.(?) p.(Pro248Leu) Paternal (confirmed) - pathogenic g.40737681C>T g.40272009C>T - - ZMPSTE24_000012 not in 200 control chromosomes PubMed: Miyoshi 2008, OMIM:var0005 - rs121908095 Germline - - - - - DNA SEQ - - MAD MAD3300.5 PubMed: Miyoshi 2008 sister of MAD3300.3 F no Japan - >3y - - - 1 Johan den Dunnen
+/. 6 c.743C>T r.(?) p.(Pro248Leu) Paternal (confirmed) - pathogenic g.40737681C>T g.40272009C>T - - ZMPSTE24_000012 - PubMed: Ahmad 2010 - rs121908095 Germline yes - - - - DNA SEQ - - MAD MAD4700.4 PubMed: Ahmad 2010 MAD4700.4; 2-generation family, affected brother 2 M no United States - - - - - 1 Johan den Dunnen
+/. 6 c.743C>T r.(?) p.(Pro248Leu) Paternal (confirmed) - pathogenic g.40737681C>T g.40272009C>T - - ZMPSTE24_000012 - PubMed: Ahmad 2010, OMIM:var0005 - rs121908095 Germline yes - - - - DNA SEQ - - MAD 2009-051-008 PubMed: Ahmad 2010 MAD4700.3; 2-generation family, affected brother 1 M - United States - - - - - 1 Tom Winder
?/. 6 c.743C>T r.(?) p.Pro248Leu Unknown - VUS g.40737681C>T g.40272009C>T - - ZMPSTE24_000012 cloned in pRS416GPD, yeast STE24 complementation normal activity PubMed: Miyoshi 2008 - rs121908095 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. 6i c.769+4192C>T r.(=) p.(=) Unknown - benign g.40741899C>T g.40276227C>T - - ZMPSTE24_000034 - PubMed: Halaschek-Wiener 2009 - rs6676644 Germline - 8/94 chromosomes - - - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y - - - 94 Johan den Dunnen
-/. 6i c.770-131T>C r.(=) p.(=) Maternal (confirmed) - benign g.40746884T>C g.40281212T>C 770-131C>T - ZMPSTE24_000045 - - - rs78985808 Unknown - - - - - DNA SEQ - - ? DEBARS-L-001 - - M - (France) - - - - - 1 Claire Navarro
+/. 7 c.794A>G r.(?) p.(Asn265Ser) Parent #1 - pathogenic g.40747039A>G g.40281367A>G - - ZMPSTE24_000018 - PubMed: Shackleton 2005 - rs281875371 Germline - - - - - DNA SEQ - - ? ? PubMed: Shackleton 2005 - F no (United Kingdom (Great Britain)) - >2y - - - 1 Johan den Dunnen
+/. 7 c.794A>G r.(?) p.(Asn265Ser) Parent #1 - pathogenic g.40747039A>G g.40281367A>G - - ZMPSTE24_000018 - PubMed: Cunningham 2010 - rs281875371 Germline yes - - - - DNA SEQ - - MAD 20550970-Pat PubMed: Cunningham 2010 2-generation family, unaffected carrier mother M no (New Zealand) - - - - - 1 Johan den Dunnen
+/. 7 c.794A>G r.(?) p.(Asn265Ser) Parent #2 - pathogenic g.40747039A>G g.40281367A>G - - ZMPSTE24_000018 - PubMed: Agarwal 2006 - rs281875371 Germline - - - - - DNA SEQ - - MAD ? PubMed: Agarwal 2006 - M - Australia - 37y - - - 1 Johan den Dunnen
+/. 7 c.794A>G r.(?) p.(Asn265Ser) Maternal (confirmed) - pathogenic g.40747039A>G g.40281367A>G - - ZMPSTE24_000018 - PubMed: Cunningham 2010 - rs281875371 Germline yes - - - - DNA SEQ - - MAD 20550970-Pat PubMed: Cunningham 2010 2-generation family, 1 affected M no (New Zealand) - - - - - 1 Johan den Dunnen
+/. 7 c.794A>G r.(?) p.(Asn265Ser) Paternal (confirmed) - pathogenic g.40747039A>G g.40281367A>G - - ZMPSTE24_000018 - CNavarro, submitted - rs281875371 Germline - - - - - DNA SEQ - - MAD MAD-Fam7 CNavarro, submitted - F no Turkey - - - - - 1 Claire Navarro
+?/. 7 c.794A>G r.(?) p.Asn265Ser Unknown - likely pathogenic g.40747039A>G g.40281367A>G - - ZMPSTE24_000018 yeast STE24 complementation slightly reduced activity PubMed: Agarwal 2006 - rs281875371 Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.826C>T r.(?) p.(Arg276*) Maternal (confirmed) - pathogenic g.40747071C>T g.40281399C>T - - ZMPSTE24_000039 - CNavarro, submitted - rs138606746 Germline - - - - - DNA SEQ - - RD ? CNavarro, submitted - F no - - - - - - 1 Claire Navarro
+/. 7i c.954+2T>A r.spl p.(Gly256Glufs*2) Paternal (confirmed) - pathogenic g.40747201T>A g.40281529T>A - - ZMPSTE24_000044 - CNavarro, submitted - rs312262688 Germline - - - - - DNA SEQ - - RD ? CNavarro, submitted - M no - - - - - - 1 Claire Navarro
-?/. - c.954+3G>A r.spl? p.? Unknown - likely benign g.40747202G>A - ZMPSTE24(NM_005857.3):c.954+3G>A - ZMPSTE24_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.990C>T r.(?) p.(=) Unknown - benign g.40751632C>T g.40285960C>T - - ZMPSTE24_000046 - - - rs116284141 Germline - - - - - DNA SEQ - - Healthy/Control DEBARS-L-002 - healthy father of DEBARS-L-001 M - (France) - - - - - 1 Claire Navarro
-?/. - c.990C>T r.(?) p.(=) Unknown - likely benign g.40751632C>T - ZMPSTE24(NM_005857.3):c.990C>T (p.L330=) - ZMPSTE24_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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