All variants in the VANGL1 gene

Information The variants shown are described using the NM_138959.2 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.71+6T>G r.(=) p.(=) - likely benign g.116194111T>G - VANGL1(NM_138959.2):c.71+6T>G (p.?) - VANGL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.142A>G r.(?) p.(Ile48Val) - VUS g.116202332A>G - VANGL1(NM_138959.2):c.142A>G (p.(Ile48Val)) - VANGL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.311G>A r.(?) p.(Gly104Glu) - VUS g.116206388G>A - VANGL1(NM_138959.3):c.311G>A (p.(Gly104Glu)) - VANGL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.517C>T r.(?) p.(Arg173Cys) - likely benign g.116206594C>T - VANGL1(NM_138959.3):c.517C>T (p.(Arg173Cys)) - VANGL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.523C>T r.(?) p.(Arg175Trp) - likely benign g.116206600C>T g.115663979C>T VANGL1(NM_138959.3):c.523C>T (p.R175W) - VANGL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.640C>T r.(?) p.(Arg214Trp) - VUS g.116206717C>T - VANGL1(NM_138959.2):c.640C>T (p.R214W) - VANGL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.691C>T r.(?) p.(Leu231Phe) - VUS g.116206768C>T - VANGL1(NM_138959.3):c.691C>T (p.(Leu231Phe)) - VANGL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.715G>A r.(?) p.(Val239Ile) - VUS g.116206792G>A - VANGL1(NM_138959.2):c.715G>A (p.(Val239Ile)) - VANGL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.752C>T r.(?) p.(Thr251Met) - likely benign g.116206829C>T - VANGL1(NM_138959.3):c.752C>T (p.T251M) - VANGL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.765C>T r.(?) p.(Val255=) - likely benign g.116206842C>T g.115664221C>T VANGL1(NM_138959.2):c.765C>T (p.V255=) - VANGL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.821G>A r.(?) p.(Arg274Gln) - VUS g.116224993G>A g.115682372G>A - - VANGL1_000005 risk factor; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918219 Germline - 1/2794 individuals - - - Mohammed Faruq
?/. - c.1055G>A r.(?) p.(Arg352Gln) - VUS g.116226673G>A - VANGL1(NM_138959.2):c.1055G>A (p.R352Q) - VANGL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1172G>T r.(?) p.(Arg391Met) - likely benign g.116228006G>T - VANGL1(NM_138959.3):c.1172G>T (p.(Arg391Met), p.R391M) - VANGL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1172G>T r.(?) p.(Arg391Met) - likely benign g.116228006G>T - VANGL1(NM_138959.3):c.1172G>T (p.(Arg391Met), p.R391M) - VANGL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1188C>T r.(?) p.(Ala396=) - likely benign g.116228022C>T g.115685401C>T VANGL1(NM_138959.3):c.1188C>T (p.A396=) - VANGL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 7i c.(?_1314+1241)_(1315-1181_?)del r.(?) p.(=) - association g.116229389_116232559del g.115686768_115689938del hg18 116030911-116034081del - VANGL1_000012 3.3kb deletion; in SLE cohort 18 homozygous, 41 heterozygous and 119 no deletion PubMed: Jiang 2021, Journal: Jiang 2021 - - Germline - - - - - Johan den Dunnen
-?/. - c.1314+1339_1315-897del r.(=) p.(=) ACMG association g.116229487_116232843del g.115686866_115690222del - - VANGL1_000013 3.3 kb deletion intron 7 oVANGL1 investigated in 66 pediatric Mexican patients with juvenile systemic lupus erythematosus (SLE) with or without nephritis, allelic frequency of 0.29 in patients, 0.23 in 181 related healthy controls; breakpoint was delimited by Sanger sequencing identical in all patients and controls Journal: Alcantara-Ortigoza 2024 - - Germline - 0.29 - - - Miguel Angel Alcántara-Ortigoza
-?/. - c.1315-3C>T r.spl? p.? - likely benign g.116233737C>T - VANGL1(NM_138959.3):c.1315-3C>T - VANGL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1391G>A r.(?) p.(Arg464Lys) - VUS g.116233816G>A - VANGL1(NM_138959.2):c.1391G>A (p.(Arg464Lys)) - VANGL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1471G>A r.(?) p.(Val491Ile) - likely benign g.116233896G>A g.115691275G>A VANGL1(NM_138959.2):c.1471G>A (p.V491I) - VANGL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1529A>G r.(?) p.(Lys510Arg) - VUS g.116233954A>G - VANGL1(NM_138959.2):c.1529A>G (p.(Lys510Arg)) - VANGL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1549C>T r.(?) p.(Arg517Cys) - VUS g.116233974C>T - VANGL1(NM_138959.3):c.1549C>T (p.R517C) - VANGL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*2581G>A r.(=) p.(=) - likely benign g.116236581G>A g.115693960G>A - - VANGL1_000006 194 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3811008 Germline - 194/2793 individuals - - - Mohammed Faruq
-?/. - c.*2581G>A r.(=) p.(=) - likely benign g.116236581G>A g.115693960G>A - - VANGL1_000006 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3811008 Germline - 3/2793 individuals - - - Mohammed Faruq
-?/. - c.*3336G>A r.(=) p.(=) - likely benign g.116237336G>A g.115694715G>A - - VANGL1_000007 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61732170 Germline - 15/2794 individuals - - - Mohammed Faruq
-?/. - c.*9843A>G r.(=) p.(=) - likely benign g.116243843A>G g.115701222A>G CASQ2(NM_001232.4):c.*19T>C - CASQ2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*9868A>G r.(=) p.(=) - benign g.116243868A>G g.115701247A>G CASQ2(NM_001232.3):c.1194T>C (p.D398=), CASQ2(NM_001232.4):c.1194T>C (p.D398=) - CASQ2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*9868A>G r.(=) p.(=) - benign g.116243868A>G g.115701247A>G CASQ2(NM_001232.3):c.1194T>C (p.D398=), CASQ2(NM_001232.4):c.1194T>C (p.D398=) - CASQ2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*9868A>G r.(=) p.(=) - benign g.116243868A>G g.115701247A>G CASQ2(NM_001232.3):c.1194T>C (p.D398=), CASQ2(NM_001232.4):c.1194T>C (p.D398=) - CASQ2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*9874_*9876del r.(=) p.(=) - benign g.116243874_116243876del g.115701253_115701255del CASQ2(NM_001232.3):c.1194_1196delCGA (p.D398del) - CASQ2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*9877G>A r.(=) p.(=) - benign g.116243877G>A g.115701256G>A CASQ2(NM_001232.3):c.1185C>T (p.D395=), CASQ2(NM_001232.4):c.1185C>T (p.D395=) - CASQ2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*9877G>A r.(=) p.(=) - benign g.116243877G>A g.115701256G>A CASQ2(NM_001232.3):c.1185C>T (p.D395=), CASQ2(NM_001232.4):c.1185C>T (p.D395=) - CASQ2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*9877G>A r.(=) p.(=) - benign g.116243877G>A g.115701256G>A CASQ2(NM_001232.3):c.1185C>T (p.D395=), CASQ2(NM_001232.4):c.1185C>T (p.D395=) - CASQ2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*9877_*9879del r.(=) p.(=) - benign g.116243877_116243879del g.115701256_115701258del CASQ2(NM_001232.3):c.1185_1187delCGA (p.D398del), CASQ2(NM_001232.4):c.1185_1187delCGA (p.D398del) - CASQ2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*9877_*9879del r.(=) p.(=) - benign g.116243877_116243879del g.115701256_115701258del CASQ2(NM_001232.3):c.1185_1187delCGA (p.D398del), CASQ2(NM_001232.4):c.1185_1187delCGA (p.D398del) - CASQ2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*9877_*9879del r.(=) p.(=) - likely benign g.116243877_116243879del g.115701256_115701258del CASQ2(NM_001232.3):c.1185_1187delCGA (p.D398del), CASQ2(NM_001232.4):c.1185_1187delCGA (p.D398del) - CASQ2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*9877_*9879del r.(=) p.(=) - likely benign g.116243877_116243879del g.115701256_115701258del CASQ2(NM_001232.3):c.1185_1187delCGA (p.D398del), CASQ2(NM_001232.4):c.1185_1187delCGA (p.D398del) - CASQ2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*9928A>T r.(=) p.(=) - likely benign g.116243928A>T - CASQ2(NM_001232.3):c.1134T>A (p.D378E) - CASQ2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*9928_*9930del r.(=) p.(=) - benign g.116243928_116243930del g.115701307_115701309del CASQ2(NM_001232.3):c.1147_1149delGAT (p.D383del), CASQ2(NM_001232.4):c.1147_1149delGAT (p.D383del) - CASQ2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*9928_*9930del r.(=) p.(=) - VUS g.116243928_116243930del g.115701307_115701309del CASQ2(NM_001232.3):c.1147_1149delGAT (p.D383del), CASQ2(NM_001232.4):c.1147_1149delGAT (p.D383del) - CASQ2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*9928_*9930dup r.(=) p.(=) - VUS g.116243928_116243930dup - CASQ2(NM_001232.3):c.1147_1149dupGAT (p.D383dup) - CASQ2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*9953A>G r.(=) p.(=) - VUS g.116243953A>G - CASQ2(NM_001232.4):c.1109T>C (p.I370T) - CASQ2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*10010T>C r.(=) p.(=) - VUS g.116244010T>C - - - CASQ2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*10012G>A r.(=) p.(=) - likely benign g.116244012G>A g.115701391G>A CASQ2(NM_001232.3):c.1050C>T (p.D350=) - CASQ2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*10050G>A r.(=) p.(=) - benign g.116244050G>A g.115701429G>A CASQ2(NM_001232.4):c.1015-3C>T - CASQ2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*11533G>A r.(=) p.(=) - benign g.116245533G>A g.115702912G>A CASQ2(NM_001232.3):c.1014+9C>T, CASQ2(NM_001232.4):c.1014+9C>T - CASQ2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*11533G>A r.(=) p.(=) - benign g.116245533G>A g.115702912G>A CASQ2(NM_001232.3):c.1014+9C>T, CASQ2(NM_001232.4):c.1014+9C>T - CASQ2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*11533G>A r.(=) p.(=) - benign g.116245533G>A g.115702912G>A CASQ2(NM_001232.3):c.1014+9C>T, CASQ2(NM_001232.4):c.1014+9C>T - CASQ2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*11551A>G r.(=) p.(=) - benign g.116245551A>G g.115702930A>G CASQ2(NM_001232.3):c.1005T>C (p.N335=), CASQ2(NM_001232.4):c.1005T>C (p.N335=) - CASQ2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*11551A>G r.(=) p.(=) - benign g.116245551A>G g.115702930A>G CASQ2(NM_001232.3):c.1005T>C (p.N335=), CASQ2(NM_001232.4):c.1005T>C (p.N335=) - CASQ2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*11551A>G r.(=) p.(=) - likely benign g.116245551A>G - CASQ2(NM_001232.3):c.1005T>C (p.N335=), CASQ2(NM_001232.4):c.1005T>C (p.N335=) - CASQ2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*11568G>A r.(=) p.(=) - VUS g.116245568G>A g.115702947G>A CASQ2(NM_001232.4):c.988C>T (p.Q330*) - CASQ2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*11568G>C r.(=) p.(=) - VUS g.116245568G>C g.115702947G>C CASQ2(NM_001232.3):c.988C>G (p.Q330E) - CASQ2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*11571G>A r.(=) p.(=) - VUS g.116245571G>A g.115702950G>A CASQ2(NM_001232.3):c.985C>T (p.P329S), CASQ2(NM_001232.4):c.985C>T (p.P329S) - CASQ2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*11571G>A r.(=) p.(=) - VUS g.116245571G>A g.115702950G>A CASQ2(NM_001232.3):c.985C>T (p.P329S), CASQ2(NM_001232.4):c.985C>T (p.P329S) - CASQ2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*11571G>A r.(=) p.(=) - VUS g.116245571G>A g.115702950G>A CASQ2(NM_001232.3):c.985C>T (p.P329S), CASQ2(NM_001232.4):c.985C>T (p.P329S) - CASQ2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*11655G>C r.(=) p.(=) - benign g.116245655G>C g.115703034G>C - - CASQ2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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