Unique variants in the NLGN3 gene

Information The variants shown are described using the NM_018977.3 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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     
-?/. 3 - c.-4535T>C r.(?) p.(=) - likely benign g.70360480T>C g.71140630T>C MED12(NM_005120.2):c.6045-5T>C (, p.?), MED12(NM_005120.3):c.6045-5T>C - MED12_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.-4478A>G r.(?) p.(=) - VUS g.70360537A>G - MED12(NM_005120.2):c.6097A>G (p.M2033V) - MED12_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-4464C>T r.(?) p.(=) - likely benign g.70360551C>T g.71140701C>T MED12(NM_005120.2):c.6111C>T (p.G2037=) - MED12_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-4369_-4368insGCATCAGCAGCAACAGCA r.(?) p.(=) - likely benign g.70360646_70360647insGCATCAGCAGCAACAGCA - MED12(NM_005120.2):c.6192_6193insCAGCAGCAACAGCAGCAT (p.(Gln2064_Gln2065insGlnGlnGlnGlnGlnHis)) - MED12_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.-4352_-4347dup r.(?) p.(=) - likely benign, VUS g.70360663_70360668dup g.71140813_71140818dup 1 more item - MED12_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
+?/. 1 - c.-3935C>T r.(?) p.(=) - likely pathogenic g.70361080C>T g.71141230C>T - - MED12_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-3900_-3895del r.(?) p.(=) - VUS g.70361115_70361120del - MED12(NM_005120.3):c.6303_6308delGCAGCA (p.Q2114_Q2115del) - MED12_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-3900_-3895dup r.(?) p.(=) - likely benign g.70361115_70361120dup g.71141265_71141270dup MED12(NM_005120.2):c.6285_6286insCAGCAG (p.(Gln2114_Gln2115dup)) - MED12_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-3894A>G r.(?) p.(=) - likely benign g.70361121A>G - MED12(NM_005120.2):c.6309A>G (p.Q2103=) - MED12_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.-3855_-3844dup r.(?) p.(=) - benign, likely benign g.70361160_70361171dup g.71141310_71141321dup 1 more item - MED12_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.-3832C>T r.(?) p.(=) - VUS g.70361183C>T g.71141333C>T MED12(NM_005120.2):c.6371C>T (p.A2124V) - MED12_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.-3806_-3795del r.(?) p.(=) - VUS g.70361209_70361220del g.71141359_71141370del MED12(NM_005120.2):c.6397_6408delTCCCAGCCCCAG (p.S2133_Q2136del) - MED12_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-3353del r.(?) p.(=) - benign g.70361662del g.71141812del MED12(NM_005120.3):c.6409-71delA - MED12_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-3277G>C r.(?) p.(=) - VUS g.70361738G>C g.71141888G>C MED12(NM_005120.2):c.6414G>C (p.(Gln2138His)) - MED12_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.-3209A>C r.(?) p.(=) - likely pathogenic g.70361806A>C g.71141956A>C MED12(NM_005120.2):c.6482A>C (p.Q2161P) - MED12_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.-2979C>T r.(?) p.(=) - VUS g.70362036C>T - MED12(NM_005120.3):c.6502C>T (p.Q2168*) - MED12_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.-200-354A>G r.(=) p.(=) - VUS g.70367046A>G g.71147196A>G - - NLGN3_000001 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-200-72A>G r.(=) p.(=) - VUS g.70367328A>G g.71147478A>G - - NLGN3_000002 - - - - Germline - - - - - Yu Sun
-?/. 2 - c.20C>T r.(?) p.(Pro7Leu) - likely benign g.70367619C>T g.71147769C>T NLGN3(NM_001166660.1):c.20C>T (p.(Pro7Leu)), NLGN3(NM_181303.1):c.20C>T (p.P7L) - NLGN3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.48C>T r.(?) p.(Pro16=) - likely benign g.70367647C>T - NLGN3(NM_181303.1):c.48C>T (p.P16=) - NLGN3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.95C>T r.(?) p.(Ala32Val) - likely benign g.70367694C>T g.71147844C>T NLGN3(NM_181303.1):c.95C>T (p.A32V) - NLGN3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.170C>T r.(?) p.(Pro57Leu) - likely benign g.70367769C>T - NLGN3(NM_181303.1):c.170C>T (p.P57L) - NLGN3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.248G>A r.(?) p.(Arg83His) - likely benign g.70367847G>A g.71147997G>A - - NLGN3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.282G>A r.(?) p.(Ser94=) - likely benign g.70367881G>A g.71148031G>A NLGN3(NM_181303.1):c.282G>A (p.S94=) - NLGN3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.309C>T r.(?) p.(Pro103=) - likely benign g.70367908C>T - NLGN3(NM_181303.1):c.309C>T (p.P103=) - NLGN3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.359C>T r.(?) p.(Pro120Leu) - VUS g.70367958C>T g.71148108C>T - - NLGN3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.457+666C>T r.(=) p.(=) - pathogenic g.70368722C>T g.71148872C>T NLGN3 R162* - NLGN3_000022 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.514G>A r.(?) p.(Glu172Lys) - likely benign g.70373383G>A g.71153533G>A NLGN3(NM_181303.1):c.574G>A (p.E192K) - NLGN3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.544G>A r.(?) p.(Val182Ile) - VUS g.70375090G>A g.71155240G>A - - NLGN3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.655G>A r.(?) p.(Val219Ile) - VUS g.70375201G>A g.71155351G>A NLGN3(NM_181303.1):c.715G>A (p.V239I) - NLGN3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.655G>C r.(?) p.(Val219Leu) - VUS g.70375201G>C g.71155351G>C NLGN3(NM_001166660.1):c.595G>C (p.(Val199Leu)) - NLGN3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.737G>A r.(?) p.(Arg246His) - VUS g.70384062G>A - NLGN3(NM_181303.1):c.797G>A (p.R266H) - NLGN3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.747C>T r.(=), r.(?) p.(=), p.(Ser249=) - likely benign g.70384072C>T g.71164222C>T NLGN3(NM_181303.1):c.807C>T (p.S269=), S249S - NLGN3_000021 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
?/. 2 - c.853+323T>C r.(=) p.(=) - VUS g.70384501T>C g.71164651T>C - - NLGN3_000005 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1140C>T r.(?) p.(Asp380=) - likely benign g.70387147C>T g.71167297C>T NLGN3(NM_181303.1):c.1200C>T (p.D400=) - NLGN3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1236C>T r.(?) p.(Ser412=) - likely benign g.70387243C>T - NLGN3(NM_181303.1):c.1296C>T (p.S432=) - NLGN3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1320C>T r.(?) p.(Asp440=) - likely benign g.70387327C>T g.71167477C>T NLGN3(NM_181303.1):c.1380C>T (p.D460=) - NLGN3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1381C>T r.(?) p.(His461Tyr) - VUS g.70387388C>T g.71167538C>T NLGN3(NM_181303.2):c.1441C>T (p.H481Y) - NLGN3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./. 1 - c.1388G>A r.(?) p.(Trp463*) - pathogenic g.70387395G>A g.71167545G>A - - NLGN3_000011 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1427G>A r.(?) p.(Arg476His) - VUS g.70387434G>A - - - NLGN3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1789C>T r.(?) p.(Arg597Trp) - pathogenic (recessive) g.70389249C>T g.71169399C>T - - NLGN3_000036 - PubMed: Redin 2014 - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.1894A>G r.(?) p.(Thr632Ala) - benign, likely benign g.70389354A>G g.71169504A>G NLGN3(NM_181303.1):c.1954A>G (p.T652A), NLGN3(NM_181303.2):c.1954A>G (p.T652A) - NLGN3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.1951C>T r.(?) p.(Arg651Trp) - VUS g.70389411C>T g.71169561C>T NLGN3(NM_181303.1):c.2011C>T (p.R671W) - NLGN3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 7 c.1955C>T r.(?) p.(Pro652Leu) - VUS g.70389415C>T g.71169565C>T - - NLGN3_000040 - 0 - - Germline - - - - - LOVD
?/. 1 - c.2146C>T r.(?) p.(Arg716Trp) - VUS g.70389606C>T g.71169756C>T - - NLGN3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2162T>C r.(?) p.(Leu721Pro) - VUS g.70389622T>C g.71169772T>C NLGN3(NM_001166660.1):c.2102T>C (p.(Leu701Pro)) - NLGN3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 7 c.2165G>A r.(?) p.(Arg722Gln) - VUS g.70389625G>A g.71169775G>A - - NLGN3_000041 - PubMed: Ganapathy 2019 - rs779740957 Germline - - - - - Johan den Dunnen
-?/. 1 - c.2271C>T r.(?) p.(Ala757=) - likely benign g.70389731C>T g.71169881C>T NLGN3(NM_181303.1):c.2331C>T (p.A777=) - NLGN3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2339C>T r.(?) p.(Pro780Leu) - VUS g.70389799C>T - NLGN3(NM_181303.1):c.2399C>T (p.P800L) - NLGN3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*60_*61del r.(=) p.(=) - VUS g.70390007_70390008del g.71170157_71170158del - - NLGN3_000010 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*80_*81del r.(=) p.(=) - VUS g.70390027_70390028del g.71170177_71170178del - - NLGN3_000008 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*995dup r.(=) p.(=) - VUS g.70390942dup g.71171092dup - - NLGN3_000009 - - - - Germline - - - - - Yu Sun
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