All variants in the ESCO2 gene

Information The variants shown are described using the NM_001017420.2 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.-17+19C>T r.(=) p.(=) - benign g.27632143C>T g.27774626C>T - - ESCO2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.18A>G r.(?) p.(Pro6=) - likely benign g.27633049A>G g.27775532A>G ESCO2(NM_001017420.2):c.18A>G (p.P6=) - CCDC25_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 3 c.252_253del r.(?) p.(Ser85PhefsTer6) - pathogenic g.27634077_27634078del g.27776560_27776561del - - ESCO2_000004 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.294_297del r.(?) p.(Arg99SerfsTer2) - pathogenic g.27634119_27634122del g.27776602_27776605del - - ESCO2_000016 compound heterozygous, ID#G197 PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.307_311delAGAAA r.(?) p.(I102fs*1) - pathogenic g.27634132_27634136delAGAAA g.27776615_27776619delAGAAA - - ESCO2_000014 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Schule 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.308_309del r.(?) p.(Lys103ArgfsTer3) - pathogenic g.27634133_27634134del g.27776616_27776617del - - ESCO2_000017 compound heterozygous, ID:G208 PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
-?/. - c.382G>A r.(?) p.(Gly128Arg) - likely benign g.27634207G>A g.27776690G>A ESCO2(NM_001017420.2):c.382G>A (p.G128R) - ESCO2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 3 c.417del r.(417del) p.(Lys139Asnfs*6) - likely pathogenic g.27634242del g.27776725del 417delA - ESCO2_000049 - - - - Germline yes - - 0 - Elisa Adele Colombo
+/+ 3 c.417dup r.(?) p.(Pro140ThrfsTer8) - pathogenic g.27634242dup g.27776725dup - - ESCO2_000008 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+?/. 3 c.431dup r.(?) p.(Leu144Phefs*4) - likely pathogenic g.27634256dup g.27776739dup - - ESCO2_000039 - - - - Germline - - - 0 - Karina Silveira
+/. - c.457del r.(?) p.(Arg153Aspfs*18) - pathogenic g.27634282del g.27776765del 457delA - ESCO2_000058 - - - - Unknown - - - 0 - IMGAG
+/+ 3 c.505C>T r.(?) p.(R169*) - pathogenic g.27634330C>T g.27776813C>T - - ESCO2_000002 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.505C>T r.(?) p.(R169*) - pathogenic g.27634330C>T g.27776813C>T - - ESCO2_000002 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.505C>T r.(?) p.(R169*) - pathogenic g.27634330C>T g.27776813C>T - - ESCO2_000002 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
-?/. - c.523A>G r.(?) p.(Ile175Val) - likely benign g.27634348A>G - ESCO2(NM_001017420.2):c.523A>G (p.(Ile175Val)) - CCDC25_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.569A>G r.(?) p.(Asn190Ser) - VUS g.27634394A>G g.27776877A>G ESCO2(NM_001017420.2):c.569A>G (p.(Asn190Ser)) - ESCO2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.577C>T r.(?) p.(Arg193Trp) - VUS g.27634402C>T g.27776885C>T ESCO2(NM_001017420.3):c.577C>T (p.R193W) - ESCO2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.577C>T r.(?) p.(Arg193Trp) - VUS g.27634402C>T g.27776885C>T - - ESCO2_000043 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143539004 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/+ 3 c.604C>T r.(?) p.(Q202*) - pathogenic g.27634429C>T g.27776912C>T - - ESCO2_000011 compound heterozygous PubMed: Schule 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
?/. - c.662A>T r.(?) p.(Lys221Ile) - VUS g.27634487A>T g.27776970A>T ESCO2(NM_001017420.3):c.662A>T (p.K221I) - ESCO2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/+ 3 c.745_746del r.(?) p.(Val249GlnfsTer2) - pathogenic g.27634570_27634571del g.27777053_27777054del - - ESCO2_000025 - PubMed: Resta 2006 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.751dup r.(?) p.(Glu251GlyfsTer30) - pathogenic g.27634576dup g.27777059dup - - ESCO2_000001 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.751dup r.(?) p.(Glu251GlyfsTer30) - pathogenic g.27634576dup g.27777059dup - - ESCO2_000001 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.751dup r.(?) p.(Glu251GlyfsTer30) - pathogenic g.27634576dup g.27777059dup - - ESCO2_000001 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.751dup r.(?) p.(Glu251GlyfsTer30) - pathogenic g.27634576dup g.27777059dup - - ESCO2_000001 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.760del r.(?) p.(Thr254LeufsTer13) - pathogenic g.27634585del g.27777068del - - ESCO2_000012 compound heterozygous PubMed: Schule 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.760del r.(?) p.(Thr254LeufsTer13) - pathogenic g.27634585del g.27777068del - - ESCO2_000012 compound heterozygous PubMed: Schule 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.760del r.(?) p.(Thr254LeufsTer13) - pathogenic g.27634585del g.27777068del - - ESCO2_000012 compound heterozygous, ID:G208 PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.760dup r.(?) p.(Thr254AsnfsTer27) - pathogenic g.27634585dup g.27777068dup - - ESCO2_000009 compound heterozygous PubMed: Schule 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.760dup r.(?) p.(Thr254AsnfsTer27) - pathogenic g.27634585dup g.27777068dup - - ESCO2_000009 ID#3275 PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.760dup r.(?) p.(Thr254AsnfsTer27) - pathogenic g.27634585dup g.27777068dup - - ESCO2_000009 compound heterozygous, ID# 3349 PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
?/? 3 c.760dup r.(?) p.(Thr254AsnfsTer27) - VUS g.27634585dup g.27777068dup - - ESCO2_000009 - - - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.764_765del r.(?) p.(Phe255CysfsTer25) - pathogenic g.27634589_27634590del g.27777072_27777073del - - ESCO2_000018 - PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
-?/. - c.768G>T r.(?) p.(Ala256=) - likely benign g.27634593G>T - ESCO2(NM_001017420.2):c.768G>T (p.A256=) - CCDC25_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 4 c.876_879del r.(?) p.(Asp292GlufsTer48) - pathogenic g.27637705_27637708del g.27780188_27780191del - - ESCO2_000019 - PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
?/? 4 c.876_879del r.(?) p.(Asp292GlufsTer48) - VUS g.27637705_27637708del g.27780188_27780191del - - ESCO2_000019 - - - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 4 c.879_880del r.(?) p.(Arg293SerfsTer7) - pathogenic g.27637708_27637709del g.27780191_27780192del - - ESCO2_000007 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 4 c.879_880del r.(?) p.(Arg293SerfsTer7) - pathogenic g.27637708_27637709del g.27780191_27780192del - - ESCO2_000007 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 4 c.879_880del r.(?) p.(Arg293SerfsTer7) - pathogenic g.27637708_27637709del g.27780191_27780192del - - ESCO2_000007 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 4 c.879_880del r.(?) p.(Arg293SerfsTer7) - pathogenic g.27637708_27637709del g.27780191_27780192del - - ESCO2_000007 - PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 4 c.879_880del r.(?) p.(Arg293SerfsTer7) - pathogenic g.27637708_27637709del g.27780191_27780192del - - ESCO2_000007 - PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 4 c.879_880del r.(?) p.(Arg293SerfsTer7) - pathogenic g.27637708_27637709del g.27780191_27780192del - - ESCO2_000007 - PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 4 c.879_880del r.(?) p.(Arg293SerfsTer7) - pathogenic g.27637708_27637709del g.27780191_27780192del - - ESCO2_000007 - PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 4 c.879_880del r.(?) p.(Arg293SerfsTer7) - pathogenic g.27637708_27637709del g.27780191_27780192del - - ESCO2_000007 - PubMed: Schulz 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/. - c.879_880del r.(?) p.(Arg293SerfsTer7) - pathogenic g.27637708_27637709del g.27780191_27780192del ESCO2(NM_001017420.2):c.879_880delAG (p.R293Sfs*7), ESCO2(NM_001017420.3):c.879_880delAG (p.R293Sfs*7) - ESCO2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.879_880del r.(?) p.(Arg293SerfsTer7) - likely pathogenic g.27637708_27637709del g.27780191_27780192del ESCO2(NM_001017420.2):c.879_880delAG (p.R293Sfs*7), ESCO2(NM_001017420.3):c.879_880delAG (p.R293Sfs*7) - ESCO2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.929A>T r.(?) p.(Glu310Val) - likely benign g.27637758A>T g.27780241A>T ESCO2(NM_001017420.2):c.929A>T (p.(Glu310Val)) - ESCO2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 4i c.955+2_955+5del r.spl p.? - pathogenic g.27637786_27637789del g.27780269_27780272del 955+2_+5delTAAG - ESCO2_000037 - PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
?/? 4i c.955+2_955+5del r.spl p.? - VUS g.27637786_27637789del g.27780269_27780272del 955+2_+5delTAAG - ESCO2_000037 - - - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
?/. - c.977A>G r.(?) p.(Tyr326Cys) - VUS g.27641538A>G g.27784021A>G ESCO2(NM_001017420.2):c.977A>G (p.Y326C) - ESCO2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1004A>G r.(?) p.(Asn335Ser) - likely benign g.27641565A>G - ESCO2(NM_001017420.2):c.1004A>G (p.(Asn335Ser)) - ESCO2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/+? 5i c.1013+1del r.(?) p.(Arg338AsnfsTer3) - VUS g.27641575del g.27784058del - - ESCO2_000038 - - - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
-?/. - c.1013+7A>G r.(=) p.(=) - likely benign g.27641581A>G g.27784064A>G ESCO2(NM_001017420.2):c.1013+7A>G - ESCO2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1031A>C r.(?) p.(Gln344Pro) - likely benign g.27645419A>C g.27787902A>C ESCO2(NM_001017420.2):c.1031A>C (p.(Gln344Pro)) - ESCO2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1094G>A r.(?) p.(Arg365Lys) - benign g.27645482G>A g.27787965G>A - - ESCO2_000059 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144288263 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.1094G>A r.(?) p.(Arg365Lys) - VUS g.27645482G>A - ESCO2(NM_001017420.2):c.1094G>A (p.R365K) - ESCO2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1105A>G r.(?) p.(Lys369Glu) - likely benign g.27645493A>G g.27787976A>G ESCO2(NM_001017420.2):c.1105A>G (p.(Lys369Glu)), ESCO2(NM_001017420.3):c.1105A>G (p.K369E) - ESCO2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1105A>G r.(?) p.(Lys369Glu) - VUS g.27645493A>G - ESCO2(NM_001017420.2):c.1105A>G (p.(Lys369Glu)), ESCO2(NM_001017420.3):c.1105A>G (p.K369E) - ESCO2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 6 c.1111dup r.(?) p.(Thr371AsnfsTer32) - pathogenic g.27645499dup g.27787982dup - - ESCO2_000006 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 6 c.1111_1112insG r.(?) p.(T371fs*32) - pathogenic g.27645499_27645500insG g.27787982_27787983insG - - ESCO2_000020 compound heterozygous, ID#3325 PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 6i c.1131+1G>A r.1014_1131del p.R338fs*17 - pathogenic g.27645520G>A g.27788003G>A - - ESCO2_000013 - PubMed: Schule 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 6i c.1131+1G>A r.1014_1131del p.R338fs*17 - pathogenic g.27645520G>A g.27788003G>A - - ESCO2_000013 - PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 6i c.1131+1G>A r.1014_1131del p.R338fs*17 - pathogenic g.27645520G>A g.27788003G>A - - ESCO2_000013 - - - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+?/. 6 c.1131+1G>A r.spl? p.? - likely pathogenic g.27645520G>A g.27788003G>A - - ESCO2_000013 - - - - Germline/De novo (untested) - - - 0 - Karina Silveira
+/+ 6i c.1132-7A>G r.1131_1132insTTATAG p.I377_378insL* - pathogenic g.27646357A>G g.27788840A>G - - ESCO2_000015 compound heterozygous PubMed: Schule 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 6i c.1132-7A>G r.1131_1132insTTATAG p.I377_378insL* - pathogenic g.27646357A>G g.27788840A>G - - ESCO2_000015 compound heterozygous, ID#G197 PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 6i c.1132-7A>G r.1131_1132insTTATAG p.I377_378insL* - pathogenic g.27646357A>G g.27788840A>G - - ESCO2_000015 compound heterozygous, ID# 3349 PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/. - c.1132-7A>G r.(=) p.(=) - pathogenic g.27646357A>G g.27788840A>G ESCO2(NM_001017420.3):c.1132-7A>G - ESCO2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.1132-7A>G r.(=) p.(=) - pathogenic g.27646357A>G g.27788840A>G ESCO2(NM_001017420.3):c.1132-7A>G - ESCO2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 7i c.1263+1G>C r.(?) p.? - pathogenic g.27646496G>C g.27788979G>C - - ESCO2_000021 compound heterozygous, ID#3325 PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 8 c.1269G>A r.(?) p.(W423*) - pathogenic g.27649485G>A g.27791968G>A - - ESCO2_000010 compound heterozygous PubMed: Schule 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 8i c.1354-18G>A r.(?) p.(V452_Q499del) - pathogenic g.27650167G>A g.27792650G>A - - ESCO2_000022 - PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 9 c.1461_1462del r.(?) p.(Arg487SerfsTer19) - pathogenic g.27650292_27650293del g.27792775_27792776del - - ESCO2_000005 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 10 c.1597dup r.(?) p.(Cys533LeufsTer5) - pathogenic g.27657157dup g.27799640dup - - ESCO2_000023 - PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
+/+ 10 c.1615T>G r.(?) p.(W539G) - pathogenic g.27657175T>G g.27799658T>G - - ESCO2_000003 - PubMed: Vega 2005 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
-?/. - c.1674-4_1674-3del r.spl? p.? - likely benign g.27660819_27660820del g.27803302_27803303del ESCO2(NM_001017420.2):c.1674-6_1674-5del (p.?) - ESCO2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 10i c.1674-2A>G r.(?) p.? - pathogenic g.27660821A>G g.27803304A>G - - ESCO2_000024 - PubMed: Gordillo 2008 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
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