Unique variants in the ESX1 gene

Information The variants shown are described using the NM_153448.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Reported     

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     
-?/. 1 - c.55G>T r.(?) p.(Val19Phe) - likely benign g.103499476C>A g.104254795C>A ESX1(NM_153448.3):c.55G>T (p.(Val19Phe)) - ESX1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.132G>T r.(?) p.(Glu44Asp) - likely benign g.103499209C>A g.104254528C>A ESX1(NM_153448.3):c.132G>T (p.E44D) - ESX1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.202C>A r.(?) p.(Pro68Thr) - likely benign g.103499139G>T g.104254458G>T ESX1(NM_153448.3):c.202C>A (p.P68T) - ESX1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 2 c.225G>A r.(?) p.(=) - likely benign g.103499116C>T g.104254435C>T E75E - ESX1_000027 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.228T>C r.(?) p.(Gly76=) - likely benign g.103499113A>G g.104254432A>G ESX1(NM_153448.3):c.228T>C (p.G76=) - ESX1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.307C>G r.(?) p.(Leu103Val) - likely benign g.103499034G>C g.104254353G>C ESX1(NM_153448.3):c.307C>G (p.(Leu103Val)) - ESX1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.327G>C r.(?) p.(Glu109Asp) - likely benign g.103499014C>G g.104254333C>G ESX1(NM_153448.3):c.327G>C (p.E109D) - ESX1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 2 c.389C>T r.(?) p.(Ala130Val) - VUS g.103498952G>A g.104254271G>A A130V - ESX1_000026 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. 2 - c.553-170G>A r.(=) p.(=) - VUS g.103495747C>T g.104251066C>T - - ESX1_000001 - - - - Germline - - - - - Yu Sun
?/. 1 4 c.578A>G r.(?) p.(Lys193Arg) - VUS g.103495552T>C g.104250871T>C K193R - ESX1_000025 recurrent, found 16 times PubMed: Tarpey 2009 - - Germline - 16/208 cases - - - Lucy Raymond
-?/. 1 - c.653T>A r.(?) p.(Phe218Tyr) - likely benign g.103495477A>T g.104250796A>T ESX1(NM_153448.3):c.653T>A (p.(Phe218Tyr)) - ESX1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.674C>T r.(?) p.(Ala225Val) - likely benign g.103495456G>A g.104250775G>A ESX1(NM_153448.3):c.674C>T (p.A225V) - ESX1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.868C>T r.(?) p.(Arg290Cys) - VUS g.103495262G>A g.104250581G>A ESX1(NM_153448.3):c.868C>T (p.(Arg290Cys)) - ESX1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.913C>A r.(?) p.(Pro305Thr) - VUS g.103495217G>T g.104250536G>T ESX1(NM_153448.3):c.913C>A (p.P305T) - ESX1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.959_985del r.(?) p.(Pro320_Ala328del) - VUS g.103495163_103495189del g.104250482_104250508del ESX1(NM_153448.3):c.959_985del (p.(Pro320_Ala328del)) - ESX1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.967C>A r.(?) p.(Pro323Thr) - VUS g.103495163G>T g.104250482G>T ESX1(NM_153448.3):c.967C>A (p.(Pro323Thr)) - ESX1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.986G>C r.(?) p.(Arg329Pro) - likely benign g.103495144C>G g.104250463C>G ESX1(NM_153448.3):c.986G>C (p.R329P) - ESX1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.993A>G r.(?) p.(Pro331=) - likely benign g.103495137T>C - ESX1(NM_153448.3):c.993A>G (p.P331=) - ESX1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.997G>A r.(?) p.(Gly333Arg) - VUS g.103495133C>T g.104250452C>T ESX1(NM_153448.3):c.997G>A (p.G333R) - ESX1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1013G>C r.(?) p.(Arg338Pro) - VUS g.103495117C>G g.104250436C>G ESX1(NM_153448.3):c.1013G>C (p.(Arg338Pro)) - ESX1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1013_1039del r.(?) p.(Arg338_Ala346del) - VUS g.103495144_103495170del g.104250463_104250489del ESX1(NM_153448.3):c.1013_1039del (p.(Arg338_Ala346del)) - ESX1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1013_1039dup r.(?) p.(Arg338_Ala346dup) - likely benign g.103495144_103495170dup g.104250463_104250489dup ESX1(NM_153448.3):c.1039_1040insGTGTGCCACCCGGGCCGCCCATGGCGC (p.(Arg338_Ala346dup)) - ESX1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1015G>C r.(?) p.(Val339Leu) - VUS g.103495115C>G g.104250434C>G ESX1(NM_153448.3):c.1015G>C (p.(Val339Leu)) - ESX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1040C>G r.(?) p.(Pro347Arg) - likely benign g.103495090G>C g.104250409G>C ESX1(NM_153448.3):c.1040C>G (p.(Pro347Arg)) - ESX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1067C>G r.(?) p.(Pro356Arg) - VUS g.103495063G>C g.104250382G>C ESX1(NM_153448.3):c.1067C>G (p.(Pro356Arg)) - ESX1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1067C>T r.(?) p.(Pro356Leu) - likely benign g.103495063G>A g.104250382G>A ESX1(NM_153448.3):c.1067C>T (p.P356L) - ESX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1069C>G r.(?) p.(Leu357Val) - VUS g.103495061G>C g.104250380G>C ESX1(NM_153448.3):c.1069C>G (p.(Leu357Val)) - ESX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1105_1131del r.(?) p.(Gly369_Pro377del) - VUS g.103495088_103495114del g.104250407_104250433del ESX1(NM_153448.3):c.1105_1131del (p.(Gly369_Pro377del)) - ESX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.1205C>T r.(?) p.(Ala402Val) - likely benign g.103494925G>A g.104250244G>A ESX1(NM_153448.3):c.1205C>T (p.A402V, p.(Ala402Val)) - ESX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
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