All variants in the EVC2 gene

Information The variants shown are described using the NM_147127.4 transcript reference sequence.

279 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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.-2972G>T r.(?) p.(=) - likely benign g.5713212C>A - EVC(NM_153717.2):c.105C>A (p.G35=) - EVC_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-2956G>A r.(?) p.(=) - likely benign g.5713196C>T g.5711469C>T EVC(NM_153717.2):c.89C>T (p.(Pro30Leu)), EVC(NM_153717.3):c.89C>T (p.P30L) - EVC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-2956G>A r.(?) p.(=) - VUS g.5713196C>T g.5711469C>T EVC(NM_153717.2):c.89C>T (p.(Pro30Leu)), EVC(NM_153717.3):c.89C>T (p.P30L) - EVC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-2956G>A r.(?) p.(=) - VUS g.5713196C>T - EVC(NM_153717.2):c.89C>T (p.(Pro30Leu)), EVC(NM_153717.3):c.89C>T (p.P30L) - EVC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-2875C>G r.(?) p.(=) - likely benign g.5713115G>C - EVC(NM_153717.3):c.8G>C (p.(Arg3Pro), p.R3P) - EVC_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-2875C>G r.(?) p.(=) - likely benign g.5713115G>C - EVC(NM_153717.3):c.8G>C (p.(Arg3Pro), p.R3P) - EVC_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-15G>A r.(?) p.(=) - benign g.5710255C>T g.5708528C>T EVC2(NM_147127.5):c.-15G>A - EVC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2i_6i c.(283+1_284-1)_()del r.? p.? - pathogenic (recessive) g.(5683041_5687096)_(5696229_5699319)del g.(5681314_5685369)_(5694502_5697592)del Ex3_6del - EVC2_000082 - PubMed: Valencia 2009 - - Germline - - - - - Johan den Dunnen
-?/. - c.18C>T r.(?) p.(=) - likely benign g.5710223G>A - EVC2(NM_147127.5):c.18C>T (p.(Ser6=)) - EVC_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.50dup r.(?) p.(Leu18Serfs*38) - likely pathogenic g.5710195dup - EVC2(NM_147127.5):c.50dup (p.(Leu18Serfs*38)) - EVC_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.52C>T r.(?) p.(Leu18Phe) - benign g.5710189G>A g.5708462G>A EVC2(NM_147127.5):c.52C>T (p.L18F) - EVC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.62T>C r.(?) p.(Val21Ala) - likely benign g.5710179A>G g.5708452A>G EVC2(NM_147127.4):c.62T>C (p.V21A) - EVC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.92T>C r.(?) p.(Leu31Pro) - likely benign g.5710149A>G - EVC2(NM_001166136.1):c.-13+407T>C (p.(=)) - EVC_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.116G>A r.(?) p.(Trp39*) - pathogenic g.5710125C>T - - - EVC_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.122C>A r.(?) p.(Pro41His) - likely benign g.5710119G>T g.5708392G>T EVC2(NM_147127.4):c.122C>A (p.P41H, p.(Pro41His)), EVC2(NM_147127.5):c.122C>A (p.P41H) - EVC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.122C>A r.(?) p.(Pro41His) - likely benign g.5710119G>T g.5708392G>T EVC2(NM_147127.4):c.122C>A (p.P41H, p.(Pro41His)), EVC2(NM_147127.5):c.122C>A (p.P41H) - EVC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.122C>A r.(?) p.(Pro41His) - likely benign g.5710119G>T - EVC2(NM_147127.4):c.122C>A (p.P41H, p.(Pro41His)), EVC2(NM_147127.5):c.122C>A (p.P41H) - EVC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.176G>C r.(?) p.(Gly59Ala) - likely benign g.5710065C>G - EVC2(NM_147127.4):c.176G>C (p.(Gly59Ala)) - EVC_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 c.194_198dup r.(?) p.(Ser67Glyfs*17) - pathogenic (recessive) g.5710046_5710050dup g.5708319_5708323dup 198insGGCGG - EVC2_000133 - PubMed: Ruiz‐Perez 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 c.194_198dup r.(?) p.(Ser67Glyfs*17) - pathogenic (recessive) g.5710046_5710050dup g.5708319_5708323dup 198insGGCGG - EVC2_000133 - PubMed: Tompson 2007 - - Germline - - - - - Johan den Dunnen
+/. - c.194_198dup r.(?) p.(Ser67GlyfsTer17) - pathogenic g.5710046_5710050dup - EVC2(NM_147127.4):c.194_198dupGGCGG (p.S67Gfs*17) - EVC2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.229-2A>G r.spl? p.? - pathogenic g.5699376T>C g.5697649T>C EVC2(NM_001166136.2):c.-12-2A>G - EVC2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.264C>A r.(?) p.(Cys88Ter) - pathogenic g.5699339G>T g.5697612G>T - - EVC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 c.273dup r.(?) p.(Lys92*) - pathogenic (recessive) g.5699332dup g.5697605dup 273insT - EVC2_000132 - PubMed: Tompson 2007 - - Germline - - - - - Johan den Dunnen
+/. 3i_11i c.450+1086_1711-431del r.? p.? - pathogenic (recessive) g.5630894_5694978del g.5629167_5693251del Del_IVS3+1086_IVS11‐431 - EVC2_000116 61 kb deletion PubMed: Tompson 2007 - - Germline - - - - - Johan den Dunnen
-?/. - c.454G>A r.(?) p.(Gly152Arg) - likely benign g.5693057C>T g.5691330C>T EVC2(NM_001166136.1):c.214G>A (p.G72R) - EVC2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.475C>T r.(?) p.(Gln159*) - pathogenic (recessive) g.5693036G>A g.5691309G>A - - EVC2_000131 - PubMed: D'Asdia 2013 - - Germline - - - - - Johan den Dunnen
+?/. 4 c.519_519+1delinsT r.spl p.? ACMG likely pathogenic (recessive) g.5692991_5692992delinsA g.5691264_5691265delinsA - - EVC2_000163 - - - - Germline no - - - - Glustein Pozo
+/. 4i c.519+2T>C r.spl p.? - pathogenic (recessive) g.5692990A>G g.5691263A>G IVS4+2T>C - EVC2_000130 - PubMed: Tompson 2007 - - Germline - - - - - Johan den Dunnen
?/. - c.521T>C r.(?) p.(Val174Ala) - VUS g.5691069A>G g.5689342A>G EVC2(NM_001166136.1):c.281T>C (p.V94A) - EVC2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.550C>T r.(?) p.(Arg184Cys) - VUS g.5691040G>A g.5689313G>A EVC2(NM_001166136.1):c.310C>T (p.(Arg104Cys)) - EVC2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 c.619G>T r.(?) p.(Asp207Tyr) - pathogenic (recessive) g.5690971C>A g.5689244C>A - - EVC2_000129 - PubMed: Sund 2009 - - Germline - - - - - Johan den Dunnen
+/. 7 c.619G>T r.(?) p.(Glu207*) - pathogenic (recessive) g.5690971C>A - NM_147127.4:c.619G>T - EVC2_000129 Variant published before in Sund 2009 with p.R874X PubMed: Zhang-2019 - - Germline - - - - - LOVD
+/. 7 c.619G>T r.(?) p.(Glu207*) - pathogenic (recessive) g.5690971C>A - NM_147127.4:c.619G>T - EVC2_000129 Variant published before in Sund 2009 with p.R874X PubMed: Zhang-2019 - - Germline - - - - - LOVD
+/. 7 c.619G>T r.(?) p.(Glu207*) - pathogenic (recessive) g.5690971C>A - NM_147127.4:c.619G>T - EVC2_000129 Variant published before in Sund 2009 with p.R874X PubMed: Zhang-2019 - - Germline - - - - - LOVD
-/. - c.688A>G r.(?) p.(Ser230Gly) - benign g.5690902T>C g.5689175T>C EVC2(NM_001166136.2):c.448A>G (p.S150G) - EVC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.692A>G r.(?) p.(Lys231Arg) - VUS g.5690898T>C g.5689171T>C EVC2(NM_001166136.1):c.452A>G (p.(Lys151Arg)) - EVC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.707-4G>A r.spl? p.? - likely benign g.5687210C>T g.5685483C>T EVC2(NM_001166136.1):c.467-4G>A (p.?) - EVC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.707-2A>G r.spl p.? - pathogenic (recessive) g.5687208T>C - IVS5‐2A>G - EVC2_000081 - PubMed: Shen 2011 - - Germline - - - - - Johan den Dunnen
+/. 6 c.745C>T r.(?) p.(Gln249*) - pathogenic (recessive) g.5687168G>A g.5685441G>A - - EVC2_000128 unknown variant 2nd chromosome PubMed: Tompson 2007 - - Germline - - - - - Johan den Dunnen
+/. 6 c.745C>T r.(?) p.(Gln249*) - pathogenic (recessive) g.5687168G>A g.5685441G>A - - EVC2_000128 - PubMed: Valencia 2009 - - Germline - - - - - Johan den Dunnen
-?/. - c.760G>A r.(?) p.(Gly254Arg) - likely benign g.5687153C>T - EVC2(NM_147127.4):c.760G>A (p.(Gly254Arg)) - EVC2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.766G>T r.(?) p.(Gly256Trp) - VUS g.5687147C>A - EVC2(NM_147127.4):c.766G>T (p.(Gly256Trp)) - EVC2_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.814C>T r.(?) p.(Arg272Trp) - likely benign g.5687099G>A g.5685372G>A EVC2(NM_001166136.1):c.574C>T (p.(Arg192Trp)) - EVC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.816+1G>T r.spl? p.? - pathogenic g.5687096C>A - EVC2(NM_147127.5):c.816+1G>T - EVC2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 7 c.848T>G r.(?) p.(Ile283Arg) - likely pathogenic (recessive) g.5683009A>C g.5681282A>C T848G - EVC2_000127 - PubMed: Ruiz‐Perez 2003 - - Germline - - - - - Johan den Dunnen
+/. 7 c.848T>G r.(?) p.(Ile283Arg) - pathogenic (recessive) g.5683009A>C g.5681282A>C - - EVC2_000127 - PubMed: Tompson 2007 - - Germline - - - - - Johan den Dunnen
+/. - c.848T>G r.(?) p.(Ile283Arg) - pathogenic (recessive) g.5683009A>C g.5681282A>C - - EVC2_000127 - PubMed: D'Asdia 2013 - - Germline - - - - - Johan den Dunnen
+/. 7 c.848T>G r.(?) p.(Ile283Arg) - pathogenic (recessive) g.5683009A>C g.5681282A>C - - EVC2_000127 - PubMed: Valencia 2009 - - Germline - - - - - Johan den Dunnen
-?/. - c.864C>T r.(?) p.(Asn288=) - likely benign g.5682993G>A - EVC2(NM_147127.5):c.864C>T (p.(Asn288=), p.N288=) - EVC2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.864C>T r.(?) p.(Asn288=) - likely benign g.5682993G>A - EVC2(NM_147127.5):c.864C>T (p.(Asn288=), p.N288=) - EVC2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.871-2_894del r.(?) p.(Val291_Gly296delinsIleLeuLeuSerSerCys) - likely pathogenic g.5667359_5667384del - EVC2(NM_147127.4):c.871-2_894delAGGTTCTGCCGCACCACGGCCTCCAC (p.(Val291_Ala299del)) - EVC2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 8 c.874_875delinsGTGCCGCACCACGGCCTCC r.(874_875delinsGTGCCGCACCACGGCCTCC) p.(Leu292ValfsTer27) ACMG likely pathogenic (recessive) g.5667372_5667373delinsGGAGGCCGTGGTGCGGCAC g.5665645_5665646delinsGGAGGCCGTGGTGCGGCAC [873_874insGTGCCGCACCACGGC;875_876insCC] - EVC2_000184 - - - - Germline yes - Amatul Raqeeb - - Amatul Raqeeb Jawaid
?/. - c.877C>T r.(?) p.(Pro293Ser) - VUS g.5667370G>A g.5665643G>A - - EVC2_000003 - PubMed: Dusi 2014 - - Germline - - - - - Johan den Dunnen
+/. 8 c.893del r.(?) p.(His298Profs*15) - pathogenic (recessive) g.5667354del g.5665627del 893delA - EVC2_000126 - PubMed: Tompson 2007 - - Germline - - - - - Johan den Dunnen
?/. - c.904T>A r.(?) p.(Phe302Ile) - VUS g.5667343A>T g.5665616A>T EVC2(NM_001166136.1):c.664T>A (p.F222I, p.(Phe222Ile)), EVC2(NM_147127.5):c.904T>A (p.F302I) - EVC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.904T>A r.(?) p.(Phe302Ile) - VUS g.5667343A>T g.5665616A>T EVC2(NM_001166136.1):c.664T>A (p.F222I, p.(Phe222Ile)), EVC2(NM_147127.5):c.904T>A (p.F302I) - EVC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.904T>A r.(?) p.(Phe302Ile) - VUS g.5667343A>T g.5665616A>T - - EVC2_000033 - PubMed: Beck 2014 - rs138728350 Germline - - - - - LOVD
?/. - c.904T>A r.(?) p.(Phe302Ile) - VUS g.5667343A>T - EVC2(NM_001166136.1):c.664T>A (p.F222I, p.(Phe222Ile)), EVC2(NM_147127.5):c.904T>A (p.F302I) - EVC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.913G>T r.(?) p.(Ala305Ser) - VUS g.5667334C>A g.5665607C>A EVC2(NM_001166136.1):c.673G>T (p.A225S, p.(Ala225Ser)), EVC2(NM_147127.5):c.913G>T (p.A305S) - EVC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.913G>T r.(?) p.(Ala305Ser) - likely benign g.5667334C>A g.5665607C>A EVC2(NM_001166136.1):c.673G>T (p.A225S, p.(Ala225Ser)), EVC2(NM_147127.5):c.913G>T (p.A305S) - EVC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.913G>T r.(?) p.(Ala305Ser) - VUS g.5667334C>A g.5665607C>A - - EVC2_000032 - PubMed: Beck 2014 - rs150367317 Germline - - - - - LOVD
?/. - c.913G>T r.(?) p.(Ala305Ser) - VUS g.5667334C>A - EVC2(NM_001166136.1):c.673G>T (p.A225S, p.(Ala225Ser)), EVC2(NM_147127.5):c.913G>T (p.A305S) - EVC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.950T>C r.(?) p.(Leu317Pro) - VUS g.5667297A>G - EVC2(NM_147127.5):c.950T>C (p.L317P) - EVC2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.960G>C r.(?) p.(Met320Ile) - VUS g.5667287C>G g.5665560C>G EVC2(NM_001166136.1):c.720G>C (p.(Met240Ile)) - EVC2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 8 c.983del r.(?) p.(Gly328Glufs*27) - pathogenic (recessive) g.5667266del g.5665539del 981delG - EVC2_000080 - PubMed: Tompson 2007 - - Germline - - - - - Johan den Dunnen
+/. - c.983del r.(?) p.(Gly328Glufs*27) - pathogenic (recessive) g.5667264del - 981delG - EVC2_000080 - PubMed: Ali 2010 - - Germline - - - - - Johan den Dunnen
-?/. - c.1003C>T r.(?) p.(Arg335Trp) - likely benign g.5667244G>A - EVC2(NM_147127.5):c.1003C>T (p.R335W) - EVC2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1005+3G>A r.spl? p.? - likely benign g.5667239C>T - EVC2(NM_001166136.1):c.765+3G>A - EVC2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1006-9C>T r.(=) p.(=) - likely benign g.5664982G>A - EVC2(NM_147127.5):c.1006-9C>T - EVC2_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 9 c.1024A>T r.(?) p.(Lys342*) - pathogenic (recessive) g.5664955T>A g.5663228T>A - - EVC2_000125 - PubMed: Sund 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.1024A>T r.(?) p.(Lys342*) - pathogenic (recessive) g.5664955T>A g.5663228T>A - - EVC2_000125 - PubMed: D'Asdia 2013 - - Germline - - - - - Johan den Dunnen
+/. 9 c.1028_1034del r.(?) p.(Leu343Profs*10) - pathogenic (recessive) g.5664946_5664952del g.5663219_5663225del 1028_1034delTGGAACC - EVC2_000124 - PubMed: Tompson 2007 - - Germline - - - - - Johan den Dunnen
?/. - c.1040C>T r.(?) p.(Pro347Leu) - VUS g.5664939G>A g.5663212G>A EVC2(NM_001166136.1):c.800C>T (p.(Pro267Leu)) - EVC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1044C>A r.(?) p.(Phe348Leu) - VUS g.5664935G>T g.5663208G>T EVC2(NM_001166136.1):c.804C>A (p.F268L) - EVC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1046C>T r.(?) p.(Thr349Ile) - likely benign g.5664933G>A - EVC2(NM_001166136.1):c.806C>T (p.(Thr269Ile)) - EVC2_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1145+1G>A r.spl p.? - pathogenic (recessive) g.5664833C>T g.5663106C>T - - EVC2_000123 - PubMed: D'Asdia 2013 - - Germline - - - - - Johan den Dunnen
-?/. - c.1146-5C>G r.spl? p.? - likely benign g.5642570G>C - EVC2(NM_147127.5):c.1146-5C>G - EVC2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1155del r.(?) p.(Ile385Metfs*4) - pathogenic (recessive) g.5642557del g.5640830del - - EVC2_000122 - PubMed: D'Asdia 2013 - - Germline - - - - - Johan den Dunnen
+?/. 10 c.1195C>T r.(?) p.(Arg399*) - likely pathogenic g.5642516G>A g.5640789G>A g.68760C>T - EVC2_000001 - - - rs137852924 Germline - - - - - Karina Silveira
+/. - c.1195C>T r.(?) p.(Arg399*) - pathogenic (recessive) g.5642516G>A - - - EVC2_000001 - PubMed: Rudnik-Schöneborn 2011, Journal: Rudnik-Schöneborn 2011 - - Germline - - - - - Johan den Dunnen
+/. 10 c.1195C>T r.(?) p.(Arg399*) - pathogenic (recessive) g.5642516G>A g.5640789G>A C1195T - EVC2_000001 - PubMed: Ruiz‐Perez 2003 - - Germline - - - - - Johan den Dunnen
+/. 10 c.1195C>T r.(?) p.(Arg399*) - pathogenic (recessive) g.5642516G>A g.5640789G>A - - EVC2_000001 - PubMed: Tompson 2007 - - Germline - - - - - Johan den Dunnen
+/. 10 c.1195C>T r.(?) p.(Arg399*) - pathogenic (recessive) g.5642516G>A - NM_147127.4:c.1195C>T - EVC2_000001 variant 2nd chromosome not mentioned; Variant published before in Chen 2010; Chen 2012; Zhang 2012; Tompson 2007; Ruiz-Perez 2003 with c.871-2_894del26 or p.W828X or Hom PubMed: Zhang-2019 - - Germline - - - - - LOVD
+/. 10 c.1195C>T r.(?) p.(Arg399*) - pathogenic (recessive) g.5642516G>A - NM_147127.4:c.1195C>T - EVC2_000001 variant 2nd chromosome not mentioned; Variant published before in Chen 2010; Chen 2012; Zhang 2012; Tompson 2007; Ruiz-Perez 2003 with c.871-2_894del26 or p.W828X or Hom PubMed: Zhang-2019 - - Germline - - - - - LOVD
+/. 10 c.1195C>T r.(?) p.(Arg399*) - pathogenic (recessive) g.5642516G>A - NM_147127.4:c.1195C>T - EVC2_000001 Variant published before in Chen 2010; Chen 2012; Zhang 2012; Tompson 2007; Ruiz-Perez 2003 with c.871-2_894del26 or p.W828X or Hom PubMed: Zhang-2019 - - Germline - - - - - LOVD
+/. - c.1195C>T r.(?) p.(Arg399Ter) - pathogenic g.5642516G>A g.5640789G>A - - EVC2_000001 - PubMed: Mansoorshahi 2024 - rs137852924 Germline - - - - - Johan den Dunnen
?/. - c.1196G>A r.(?) p.(Arg399Gln) - VUS g.5642515C>T - EVC2(NM_147127.4):c.1196G>A (p.(Arg399Gln)) - EVC2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1198A>G r.(?) p.(Thr400Ala) - likely benign g.5642513T>C g.5640786T>C EVC2(NM_001166136.1):c.958A>G (p.(Thr320Ala)) - EVC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1208G>A r.(?) p.(Ser403Asn) - likely benign g.5642503C>T g.5640776C>T EVC2(NM_001166136.1):c.968G>A (p.S323N, p.(Ser323Asn)) - EVC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1208G>A r.(?) p.(Ser403Asn) - likely benign g.5642503C>T - EVC2(NM_001166136.1):c.968G>A (p.S323N, p.(Ser323Asn)) - EVC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1215T>A r.(?) p.(Asp405Glu) - VUS g.5642496A>T g.5640769A>T EVC2(NM_001166136.1):c.975T>A (p.D325E, p.(Asp325Glu)) - EVC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1215T>A r.(?) p.(Asp405Glu) - likely benign g.5642496A>T - EVC2(NM_001166136.1):c.975T>A (p.D325E, p.(Asp325Glu)) - EVC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1311A>G r.(?) p.(Leu437=) - likely benign g.5642400T>C - EVC2(NM_147127.5):c.1311A>G (p.L437=) - EVC2_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1345C>T r.(?) p.(Arg449Trp) - VUS g.5642366G>A - EVC2(NM_147127.5):c.1345C>T (p.R449W) - EVC2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1364C>G r.(?) p.(Thr455Arg) - likely benign g.5642347G>C g.5640620G>C EVC2(NM_001166136.1):c.1124C>G (p.T375R, p.(Thr375Arg)), EVC2(NM_147127.5):c.1364C>G (p.T455R) - EVC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1364C>G r.(?) p.(Thr455Arg) - VUS g.5642347G>C g.5640620G>C - - EVC2_000051 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141287105 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. - c.1364C>G r.(?) p.(Thr455Arg) - likely benign g.5642347G>C - EVC2(NM_001166136.1):c.1124C>G (p.T375R, p.(Thr375Arg)), EVC2(NM_147127.5):c.1364C>G (p.T455R) - EVC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1364C>G r.(?) p.(Thr455Arg) - likely benign g.5642347G>C - EVC2(NM_001166136.1):c.1124C>G (p.T375R, p.(Thr375Arg)), EVC2(NM_147127.5):c.1364C>G (p.T455R) - EVC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1379T>G r.(?) p.(Leu460Arg) - VUS g.5642332A>C - EVC2(NM_147127.5):c.1379T>G (p.L460R) - EVC2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.