Unique variants in the NLGN4X gene

Information The variants shown are described using the NM_020742.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.? r.0? p.0? ACMG VUS g.5748782_10477366del g.5830745_10559329del 1 more item - chrX_017747 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Germline yes - - - - LOVD
?/. 2 - c.-799G>A - p.(=) - VUS g.6146223C>T g.6228182C>T - - NLGN4X_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-585_-584del - p.(=) - VUS g.6146008_6146009del g.6227967_6227968del - - NLGN4X_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-576_-575del - p.(=) - VUS g.6145999_6146000del g.6227958_6227959del - - NLGN4X_000026 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.54C>T r.(?) p.(Cys18=) - likely benign g.6069454G>A - NLGN4X(NM_001282145.1):c.54C>T (p.C18=) - NLGN4X_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.55G>A r.(?) p.(Val19Ile) - likely benign g.6069453C>T - NLGN4X(NM_001282145.1):c.55G>A (p.V19I) - NLGN4X_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.71A>G r.(?) p.(Asn24Ser) - likely benign g.6069437T>C - NLGN4X(NM_001282145.1):c.71A>G (p.N24S) - NLGN4X_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.115A>G r.(?) p.(Ile39Val) - VUS g.6069393T>C g.6151352T>C NLGN4X(NM_020742.2):c.115A>G (p.(Ile39Val)) - NLGN4X_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.260G>A r.(?) p.(Arg87Gln) - VUS g.6069248C>T g.6151207C>T - - NLGN4X_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 2 - c.301C>T r.(?) p.(Arg101Ter) - likely pathogenic, pathogenic g.6069207G>A g.6151166G>A NLGN4X(NM_001282145.2):c.301C>T (p.R101*) - NLGN4X_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 4 - c.392A>G r.(?) p.(Asn131Ser) - likely benign g.6069116T>C g.6151075T>C 1 more item - NLGN4X_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.456C>G r.(?) p.(Tyr152*) - likely pathogenic g.6069052G>C g.6151011G>C - - NLGN4X_000069 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.473-252_473-251dup r.(=) p.(=) - VUS g.5947731_5947732dup g.6029690_6029691dup - - NLGN4X_000028 - - - - Germline - - - - - Yu Sun
-?/., ?/. 2 - c.473-5dup r.spl? p.? - likely benign, VUS g.5947485dup g.6029444dup NLGN4X(NM_001282145.1):c.473-5dupT, NLGN4X(NM_020742.2):c.473-5_473-4insT (p.?) - NLGN4X_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.591C>T r.(?) p.(Ile197=) - likely benign g.5947355G>A - NLGN4X(NM_001282145.1):c.591C>T (p.I197=) - NLGN4X_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.608A>G r.(?) p.(Tyr203Cys) - VUS g.5947338T>C - NLGN4X(NM_001282145.1):c.608A>G (p.Y203C) - NLGN4X_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.625+27060C>T r.(=) p.(=) - VUS g.5920261G>A g.6002220G>A - - NLGN4X_000014 - - - - Germline - - - - - Yu Sun
?/. 2 - c.625+27171G>A r.(=) p.(=) - VUS g.5920150C>T g.6002109C>T - - NLGN4X_000017 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.811+9G>T r.(=) p.(=) - likely benign g.5827086C>A g.5909045C>A NLGN4X(NM_001282145.1):c.811+9G>T - NLGN4X_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 - c.847G>A r.(?) p.(Ala283Thr) - VUS g.5821872C>T g.5903831C>T NLGN4X(NM_001282145.1):c.847G>A (p.A283T), NLGN4X(NM_001282145.2):c.847G>A (p.A283T) - NLGN4X_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/. 1 - c.897A>G r.(?) p.(Ile299Met) - benign g.5821822T>C g.5903781T>C NLGN4X(NM_001282145.1):c.897A>G (p.I299M) - NLGN4X_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 5 c.933C>T r.(?) p.(=), p.(Thr311=) - benign, likely benign g.5821786G>A g.5903745G>A NLGN4X(NM_020742.4):c.933C>T (p.T311=), T311T - NLGN4X_000054 recurrent, found 41 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 41/208 cases - - - Lucy Raymond, VKGL-NL_Groningen
-?/. 1 - c.936G>A r.(?) p.(Thr312=) - likely benign g.5821783C>T - NLGN4X(NM_001282145.1):c.936G>A (p.T312=) - NLGN4X_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.955C>A r.(?) p.(Arg319=) - likely benign g.5821764G>T - NLGN4X(NM_001282145.1):c.955C>A (p.R319=) - NLGN4X_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1012A>G r.(?) p.(Ile338Val) - VUS g.5821707T>C g.5903666T>C - - NLGN4X_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.1042G>A r.(?) p.(Val348Ile) - likely benign, VUS g.5821677C>T g.5903636C>T NLGN4X(NM_001282145.1):c.1042G>A (p.V348I), NLGN4X(NM_001282145.2):c.1042G>A (p.V348I) - NLGN4X_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 2 - c.1144G>A r.(?) p.(Gly382Ser) - VUS g.5821575C>T g.5903534C>T NLGN4X(NM_001282145.1):c.1144G>A (p.G382S), NLGN4X(NM_020742.2):c.1144G>A (p.(Gly382Ser)) - NLGN4X_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.1168G>A r.(?) p.(Val390Met) - VUS g.5821551C>T g.5903510C>T NLGN4X(NM_001282145.1):c.1168G>A (p.V390M), NLGN4X(NM_020742.4):c.1168G>A (p.V390M) - NLGN4X_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.1195G>A r.(?) p.(Val399Met) - VUS g.5821524C>T g.5903483C>T NLGN4X(NM_001282145.1):c.1195G>A (p.V399M) - NLGN4X_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1299G>A r.(?) p.(Pro433=) - likely benign g.5821420C>T g.5903379C>T NLGN4X(NM_001282145.1):c.1299G>A (p.P433=) - NLGN4X_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1330T>C r.(?) p.(Phe444Leu) - VUS g.5821389A>G - NLGN4X(NM_001282145.1):c.1330T>C (p.F444L) - NLGN4X_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1359C>T r.(?) p.(Ala453=) - likely benign g.5821360G>A - NLGN4X(NM_001282145.1):c.1359C>T (p.A453=) - NLGN4X_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1368C>T r.(?) p.(Thr456=) - likely benign g.5821351G>A g.5903310G>A NLGN4X(NM_001282145.1):c.1368C>T (p.T456=) - NLGN4X_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1563C>T r.(?) p.(Ala521=) - likely benign g.5821156G>A - NLGN4X(NM_001282145.1):c.1563C>T (p.A521=) - NLGN4X_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1601+157C>A r.(=) p.(=) - VUS g.5820961G>T g.5902920G>T - - NLGN4X_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1704C>G r.(?) p.(Leu568=) - likely benign g.5811605G>C - NLGN4X(NM_001282145.1):c.1704C>G (p.L568=) - NLGN4X_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/., ?/. 4 6 c.1777C>T r.(?) p.(Leu593Phe) - benign, likely benign, VUS g.5811532G>A g.5893491G>A L593F, NLGN4X(NM_001282145.1):c.1777C>T (p.L593F), NLGN4X(NM_020742.4):c.1777C>T (p.L593F) - NLGN4X_000035 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 6 c.1779C>G r.(?) p.(=) - likely benign g.5811530G>C g.5893489G>C L593L - NLGN4X_000053 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1977G>C r.(?) p.(Glu659Asp) - likely benign g.5811332C>G - NLGN4X(NM_001282145.1):c.1977G>C (p.E659D) - NLGN4X_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2015C>A r.(?) p.(Ser672Tyr) - VUS g.5811294G>T g.5893253G>T NLGN4X(NM_001282145.2):c.2015C>A (p.S672Y) - NLGN4X_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2019C>T r.(?) p.(Thr673=) - likely benign g.5811290G>A - NLGN4X(NM_001282145.1):c.2019C>T (p.T673=) - NLGN4X_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2033C>T r.(?) p.(Thr678Ile) - VUS g.5811276G>A - NLGN4X(NM_001282145.2):c.2033C>T (p.T678I) - NLGN4X_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2035A>G r.(?) p.(Ile679Val) - VUS g.5811274T>C g.5893233T>C NLGN4X(NM_001282145.2):c.2035A>G (p.I679V) - NLGN4X_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2041G>A r.(?) p.(Val681Ile) - VUS g.5811268C>T g.5893227C>T NLGN4X(NM_001282145.1):c.2041G>A (p.V681I) - NLGN4X_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 6 c.2164G>A r.(?) p.(Ala722Thr) - VUS g.5811145C>T g.5893104C>T A722T - NLGN4X_000052 recurrent, found 22 times PubMed: Tarpey 2009 - - Germline - 22/208 cases - - - Lucy Raymond
-?/. 1 - c.2246A>G r.(?) p.(His749Arg) - likely benign g.5811063T>C g.5893022T>C NLGN4X(NM_020742.2):c.2246A>G (p.(His749Arg)) - NLGN4X_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2246A>T r.(?) p.(His749Leu) - VUS g.5811063T>A g.5893022T>A NLGN4X(NM_020742.2):c.2246A>T (p.(His749Leu)) - NLGN4X_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 6 c.2253A>G r.(?) p.(=) - likely benign g.5811056T>C g.5893015T>C T751T - NLGN4X_000051 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline - 17/208 cases - - - Lucy Raymond
-?/. 1 - c.2280C>T r.(?) p.(Tyr760=) - likely benign g.5811029G>A g.5892988G>A NLGN4X(NM_001282145.1):c.2280C>T (p.Y760=) - NLGN4X_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 6 c.2317C>T r.(?) p.(Leu773Phe) - VUS g.5810992G>A g.5892951G>A L773F - NLGN4X_000050 recurrent, found 22 times PubMed: Tarpey 2009 - - Germline - 22/208 cases - - - Lucy Raymond
?/. 1 - c.2354C>A r.(?) p.(Thr785Lys) - VUS g.5810955G>T g.5892914G>T NLGN4X(NM_001282145.1):c.2354C>A (p.T785K) - NLGN4X_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 6 c.2356C>T r.(?) p.(=) - likely benign g.5810953G>A g.5892912G>A L786L - NLGN4X_000049 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 6 c.2360C>T r.(?) p.(Thr787Met) - VUS g.5810949G>A g.5892908G>A T787M - NLGN4X_000048 recurrent, found 26 times PubMed: Tarpey 2009 - - Germline - 26/208 cases - - - Lucy Raymond
?/. 1 6 c.2388C>A r.(?) p.(Asn796Lys) - VUS g.5810921G>T g.5892880G>T N796K - NLGN4X_000047 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.2410A>T r.(?) p.(Ser804Cys) - VUS g.5810899T>A - NLGN4X(NM_001282145.1):c.2410A>T (p.S804C) - NLGN4X_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 - c.*284G>A r.(=) p.(=) - VUS g.5810574C>T g.5892533C>T - - NLGN4X_000001 - PubMed: Almomani 2011 {dbSNP:3810686} - - Germline - - - - - Gerard C.P. Schaafsma, Yu Sun
?/. 2 - c.*768T>C r.(=) p.(=) - VUS g.5810090A>G g.5892049A>G - - NLGN4X_000005 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1997C>T r.(=) p.(=) - VUS g.5808861G>A g.5890820G>A - - NLGN4X_000023 - - - - Germline - - - - - Yu Sun
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