Full data view for gene SYNGAP1

Information The variants shown are described using the NM_006772.2 transcript reference sequence.

229 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-3580_-3579del r.(?) p.(=) Unknown - VUS g.33384462_33384463del g.33416685_33416686del CUTA(NM_015921.2):c.437_438delAG (p.E146Vfs*4) - CUTA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3353G>A r.(?) p.(=) Unknown - VUS g.33384689G>A g.33416912G>A CUTA(NM_001014433.2):c.470+8C>T (p.(=)) - CUTA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2155A>G r.(?) p.(=) Unknown - likely benign g.33385887A>G g.33418110A>G CUTA(NM_001014433.2):c.76T>C (p.(Ser26Pro)) - CUTA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-194_(1530_?)[0] r.0 p.0 Unknown - pathogenic (dominant) g.(?_33356364)_(33406339_?)del - - 6p21.3(33,356,364–33,406,339)×1 SYNGAP1_000150 - PubMed: Wirtzl 2013 - - De novo - - - - - DNA arrayCGH - Agilent 180K oligo‐array ID patient PubMed: Wirtzl 2013 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(33259651_33273955)_(34086729_34209880)del - - - SYNGAP1_000148 - PubMed: Krepischi 2010 - - De novo - - - - - DNA arrayCGH - - ID USP002265 PubMed: Krepischi 2010 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(33300000_33400000)_(33700000_33800000)del - del 33.4-33.7 Mb - SYNGAP1_000148 - PubMed: Zollino 2011 - - De novo - - - - - DNA arrayCGH - - ID patient PubMed: Zollino 2011 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.pter_(33387847_33417772)delins[NC_000022.10:17900001_25900000_qterinv] - - 46,XY,t(6;22)(p21.3;q11.2) SYNGAP1_000149 - PubMed: Klitten 2011 - - De novo - - - - - DNA FISH - - ID patient PubMed: Klitten 2011 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents - - Denmark - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.[NC_000022.10:17900001_25900000_qter]delinspter_(33387847_33417772)inv - - - SYNGAP1_000149 - PubMed: Klitten 2011 - - DUPLICATE record - - - - - DNA FISH - - ID patient PubMed: Klitten 2011 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents - - Denmark - - - - - 1 Johan den Dunnen
+/. - c.55del r.(?) p.(Ala19Profs*50) Unknown - pathogenic g.33388096del - - - CUTA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.67+2T>C r.spl? p.? Unknown - likely pathogenic g.33388110T>C - - - CUTA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-79T>G r.(=) p.(=) Unknown - benign g.33391175T>G g.33423398T>G SYNGAP1(NM_006772.3):c.68-79T>G - SYNGAP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.84T>C r.(=) p.(=) Parent #1 - benign g.33391270T>C g.33423493T>C - - SYNGAP1_000019 - PubMed: Hamdan 2011 - - Germline - 1/95 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 95 cases - - Canada French - - - - 50 Johan den Dunnen
-?/. - c.84T>C r.(?) p.(Ser28=) Unknown - likely benign g.33391270T>C g.33423493T>C SYNGAP1(NM_006772.3):c.84T>C (p.S28=) - SYNGAP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.84T>C r.(?) p.(Ser28=) Unknown - benign g.33391270T>C g.33423493T>C SYNGAP1(NM_006772.3):c.84T>C (p.S28=) - SYNGAP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.91C>T r.(?) p.(Arg31Ter) Unknown - likely pathogenic g.33391277C>T - SYNGAP1(NM_006772.3):c.91C>T (p.R31*) - SYNGAP1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.163C>A r.(?) p.(Gln55Lys) Unknown - VUS g.33391349C>A - SYNGAP1(NM_006772.3):c.163C>A (p.Q55K) - SYNGAP1_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189+371C>A r.(=) p.(=) Unknown - likely benign g.33391746C>A - SYNGAP1(NM_006772.3):c.189+371C>A - SYNGAP1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.198C>T r.(=) p.(=) Unknown - benign g.33393583C>T g.33425806C>T - - SYNGAP1_000087 incl. homozygous cases PubMed: Hamdan 2011 - rs73402305 Unknown - 2/95 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 95 cases - - Canada French - - - - 50 Johan den Dunnen
-?/. - c.216G>C r.(?) p.(Arg72=) Unknown - likely benign g.33393601G>C g.33425824G>C SYNGAP1(NM_006772.3):c.216G>C (p.R72=) - SYNGAP1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.283dup r.(?) p.(His95Profs*5) Paternal (confirmed) - pathogenic g.33393668dup g.33425891dup - - SYNGAP1_000008 confirmed by bidirectional Sanger sequencing; variant inherited from her father (who is mosaic) PubMed: Berryer 2012 - - Germline - - - - - DNA SEQ - - ID - - father is mosaic for the mutation; father has learning problems and depression) F no Denmark European - - - - 1 Fadi F. Hamdan
-/. - c.296-282C>T r.(=) p.(=) Unknown - benign g.33399656C>T g.33431879C>T SYNGAP1(NM_006772.3):c.296-282C>T - SYNGAP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.296-160C>T r.(=) p.(=) Unknown - benign g.33399778C>T g.33432001C>T SYNGAP1(NM_006772.3):c.296-160C>T - SYNGAP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.296-8C>T r.(=) p.(=) Unknown - likely benign g.33399930C>T g.33432153C>T SYNGAP1(NM_006772.3):c.296-8C>T - SYNGAP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.296-4C>T r.spl? p.? Unknown - likely benign g.33399934C>T - SYNGAP1(NM_006772.3):c.296-4C>T - SYNGAP1_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.321_324del r.(?) p.(Lys108Valfs*25) Parent #1 - pathogenic g.33399963_33399966del g.33432186_33432189del - - SYNGAP1_000005 confirmed by bidirectional Sanger sequencing PubMed: Hamdan 2011 - - De novo - - - - - DNA SEQ - - ID - - - M no Canada French Canadia - - - - 1 Fadi F. Hamdan
+?/. - c.(322_325del) r.(?) p.(Lys108Valfs*25) Unknown - likely pathogenic (dominant) g.(33399964_33399967del) - Lys108Valfs*25 - SYNGAP1_000152 Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Carvill 2013 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 65-gene panel EE T19988 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.333del r.(?) p.(Lys114SerfsTer20) Unknown - pathogenic g.33399975del g.33432198del SYNGAP1(NM_006772.2):c.333del (p.(Lys114Serfs*20)) - SYNGAP1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.333del r.(?) p.(Lys114SerfsTer20) Unknown - pathogenic g.33399975del - SYNGAP1(NM_006772.2):c.333del (p.(Lys114Serfs*20)) - SYNGAP1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.346T>C r.(?) p.(Tyr116His) Unknown - VUS g.33399988T>C g.33432211T>C SYNGAP1(NM_006772.2):c.346T>C (p.(Tyr116His)) - SYNGAP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.388-3C>G r.spl? p.? Unknown - VUS g.33400459C>G g.33432682C>G SYNGAP1(NM_006772.3):c.388-3C>G - SYNGAP1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.389-2A>T r.spl p.? Unknown - likely pathogenic (dominant) g.33400461A>T - - - SYNGAP1_000153 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Carvill 2013 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 65-gene panel EE T15924 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.403C>T r.(?) p.(Arg135Ter) Unknown - pathogenic g.33400477C>T g.33432700C>T SYNGAP1(NM_006772.3):c.403C>T (p.R135*) - SYNGAP1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.403C>T r.(?) p.(Arg135*) Unknown ACMG pathogenic (dominant) g.33400477C>T - C403T (R135X) - SYNGAP1_000112 - PubMed: Halvardson 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Fam4 PubMed: Halvardson 2016 - M - Sweden - - - - - 1 Johan den Dunnen
+/? 5 c.412A>T r.(?) p.(Lys138*) Parent #1 - pathogenic g.33400486A>T g.33432709A>T - - SYNGAP1_000001 confirmed by bidirectional Sanger sequencing PubMed: Hamdan 2009, OMIM:var0001 - - De novo - - - - - DNA SEQ - - ID - PubMed: Hamdan 2009 - F no (Canada) South American - - - - 1 Fadi F. Hamdan
+/. - c.427C>T r.(?) p.(Arg143Ter) Unknown - pathogenic g.33400501C>T g.33432724C>T - - SYNGAP1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.427C>T r.(?) p.(Arg143*) Unknown - likely pathogenic (dominant) g.33400501C>T g.33432724C>T Arg143* - SYNGAP1_000113 - PubMed: Carvill 2013 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 65-gene panel EE T22387 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.431_434del r.(?) p.(Thr144Serfs*29) Unknown - pathogenic g.33400505_33400508del g.33432728_33432731del 33400498_33400508delAAACGAACGAAinsAAACGAA - SYNGAP1_000026 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.447A>G r.(?) p.(Lys149=) Unknown - likely benign g.33400521A>G - SYNGAP1(NM_006772.3):c.447A>G (p.K149=) - SYNGAP1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.478del r.(?) p.(Leu160Cysfs*14) Unknown ACMG pathogenic g.33400552del g.33432775del - - SYNGAP1_000202 - - ClinVar-2129356 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES ID - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.490C>T r.(?) p.(Arg164*) Unknown - pathogenic g.33400564C>T - - - SYNGAP1_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.509G>A r.(?) p.(Arg170Gln) Unknown - pathogenic g.33400583G>A g.33432806G>A - - SYNGAP1_000023 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.509G>A r.(?) p.(Arg170Gln) Unknown ACMG likely pathogenic g.33400583G>A g.33432806G>A - - SYNGAP1_000023 ACMG PS1, PM2, PP2, PP3; mother not available PubMed: Johannesen 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - candidate gene panel epilepsy Pat46 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected parents M - Denmark - - - - - 1 Johan den Dunnen
+?/. - c.509G>A r.(?) p.(Arg170Gln) Unknown - likely pathogenic g.33400583G>A - SYNGAP1(NM_006772.3):c.509G>A (p.R170Q) - SYNGAP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.509G>C r.(?) p.(Arg170Pro) Unknown - likely pathogenic g.33400583G>C g.33432806G>C SYNGAP1(NM_006772.3):c.509G>C (p.R170P) - SYNGAP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.509G>T r.(?) p.(Arg170Leu) Unknown - likely pathogenic g.33400583G>T g.33432806G>T SYNGAP1(NM_006772.3):c.509G>T (p.R170L) - SYNGAP1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.510-1G>A r.spl? p.? Unknown - pathogenic g.33402928G>A g.33435151G>A - - SYNGAP1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.510-1G>A r.spl? p.? Unknown - pathogenic g.33402928G>A g.33435151G>A NM_006772.2:c.510-1G>A (spl) - SYNGAP1_000072 - PubMed: de Ligt 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 23033978-Trio16 PubMed: de Ligt 2012 - M - Netherlands - - - - - 1 Johan den Dunnen
+/? 5i c.510-1G>A r.spl p.? Unknown - pathogenic g.33402928G>A g.33435151G>A - - SYNGAP1_000015 mutation may cause exon skipping PubMed: de Ligt 2012 - - De novo - - - - - DNA SEQ - - ID - PubMed: de Ligt 2012 - - no - - - - - - 1 Fadi F. Hamdan
+/. - c.535del r.(?) p.(Glu179Serfs*9) Parent #1 ACMG pathogenic g.33402954del g.33435177del - - SYNGAP1_000162 ACMG PVS1, PS2 PubMed: Anazi 2017 - - De novo - - - - - DNA SEQ-NG - 758-gene panel ID 13DG0178 PubMed: Anazi 2017 simplex case M no Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.540A>T r.(?) p.(Ser180=) Unknown - likely benign g.33402959A>T g.33435182A>T SYNGAP1(NM_006772.2):c.540A>T (p.S180=) - SYNGAP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.564_583del r.(?) p.(Pro189IlefsTer7) Unknown - likely pathogenic g.33402983_33403002del g.33435206_33435225del SYNGAP1(NM_006772.2):c.563_582del (p.(Pro189IlefsTer7)) - SYNGAP1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.599T>A r.(?) p.(Leu200*) Unknown ACMG pathogenic (dominant) g.33403018T>A g.33435241T>A - - SYNGAP1_000198 ACMG PVS1,PM2,PP3 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat96 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.603T>G r.(?) p.(Asp201Glu) Unknown - likely benign g.33403022T>G g.33435245T>G SYNGAP1(NM_006772.3):c.603T>G (p.D201E) - SYNGAP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.651del r.(?) p.(Glu217Aspfs*6) Unknown - likely pathogenic g.33403070del - SYNGAP1(NM_006772.3):c.651delG (p.E217Dfs*6) - SYNGAP1_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.664-1G>C r.spl? p.? Unknown - pathogenic g.33403291G>C g.33435514G>C - - SYNGAP1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.692T>C r.(?) p.(Phe231Ser) Unknown - VUS g.33403320T>C g.33435543T>C SYNGAP1(NM_006772.3):c.692T>C (p.F231S) - SYNGAP1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708G>T r.(?) p.(Ala236=) Unknown - likely benign g.33403336G>T - SYNGAP1(NM_006772.2):c.708G>T (p.A236=) - SYNGAP1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.739C>T r.(?) p.(Gln247Ter) Unknown - pathogenic (dominant) g.33403367C>T g.33435590C>T - - SYNGAP1_000199 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED3490.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
./. - c.762+32C>T r.(=) p.(=) Unknown - benign g.33403422C>T g.33435645C>T - - SYNGAP1_000088 incl. homozygous cases PubMed: Hamdan 2011 - rs453590 Unknown - 60/95 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 95 cases - - Canada French - - - - 50 Johan den Dunnen
-/. - c.762+119T>A r.(=) p.(=) Unknown - benign g.33403509T>A g.33435732T>A SYNGAP1(NM_006772.3):c.762+119T>A - SYNGAP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.800^801G>A r.(?) p.(Trp267*) Unknown - pathogenic (dominant) g.33405482^33405483G>A - Trp267* - SYNGAP1_000151 - PubMed: Carvill 2013 - - De novo - - - - - DNA SEQ, SEQ-NG - 65-gene panel EE T15923 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.812C>T r.(?) p.(Ala271Val) Unknown - VUS g.33405494C>T g.33437717C>T SYNGAP1(NM_006772.3):c.812C>T (p.A271V) - SYNGAP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.814C>T r.(?) p.(Arg272Trp) Unknown - VUS g.33405496C>T g.33437719C>T SYNGAP1(NM_006772.3):c.814C>T (p.R272W) - SYNGAP1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.916G>A r.(?) p.(Val306Ile) Unknown - VUS g.33405598G>A - SYNGAP1(NM_006772.2):c.916G>A (p.V306I) - SYNGAP1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.968T>C r.(?) p.(Leu323Pro) Unknown - likely pathogenic g.33405650T>C - - - SYNGAP1_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.970C>T r.(?) p.(Arg324Trp) Unknown - VUS g.33405652C>T - - - SYNGAP1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1030G>A r.(?) p.(Gly344Ser) Unknown ACMG likely pathogenic g.33405712G>A g.33437935G>A - - SYNGAP1_000210 - - ClinVar-981240 rs1760893537 De novo - - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. 8 c.1043_1044del r.(?) p.(Val348Alafs*70) Unknown - pathogenic (dominant) g.33405725_33405726del g.33437948_33437949del c.998_999del - SYNGAP1_000107 variant published as NM_006772:c.998_999del (p.Val333Alafs*); confirmed by bidirectional Sanger sequencing PubMed: Vissers 2010 - - De novo - - - - - DNA SEQ, SEQ-NG-S - - ID MRtrio8 PubMed: Vissers 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no (Netherlands) - - - - - 1 Fadi F. Hamdan
+/? 8 c.1084T>C r.(?) p.(Trp362Arg) Unknown - pathogenic g.33405766T>C g.33437989T>C - - SYNGAP1_000009 confirmed by bidirectional Sanger Sequencing PubMed: Berryer 2012 - - De novo - - - - - DNA SEQ - - ID - - - M no Canada European - - - - 1 Fadi F. Hamdan
?/. - c.1090C>G r.(?) p.(Pro364Ala) Unknown - VUS g.33405772C>G - SYNGAP1(NM_006772.3):c.1090C>G (p.P364A) - SYNGAP1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1152C>T r.(=) p.(=) Unknown - benign g.33405834C>T g.33438057C>T - - SYNGAP1_000089 - PubMed: Hamdan 2011 - - Unknown - 3/95 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 95 cases - - Canada French - - - - 50 Johan den Dunnen
./. - c.1158G>A r.(=) p.(=) Unknown - benign g.33405840G>A g.33438063G>A - - SYNGAP1_000090 - PubMed: Hamdan 2011 - - Unknown - 2/95 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 95 cases - - Canada French - - - - 50 Johan den Dunnen
+?/. - c.1167del r.(?) p.(Gly391AlafsTer12) Unknown - likely pathogenic g.33405849del g.33438072del - - SYNGAP1_000145 PVS1, PM2, PS4_supporting; class 5 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
?/. - c.1193C>T r.(?) p.(Pro398Leu) Unknown - VUS g.33405875C>T - SYNGAP1(NM_006772.2):c.1193C>T (p.(Pro398Leu)) - SYNGAP1_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1199T>G r.(?) p.(Val400Gly) Unknown - VUS g.33405881T>G g.33438104T>G - - SYNGAP1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1210G>C r.(?) p.(Ala404Pro) Unknown - likely pathogenic g.33405892G>C - SYNGAP1(NM_006772.3):c.1210G>C (p.A404P) - SYNGAP1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.1253_1254del r.(?) p.(Lys418Argfs*54) Unknown - pathogenic g.33405935_33405936del g.33438158_33438159del - - SYNGAP1_000014 - PubMed: Rauch 2012 - - De novo - - - - - DNA SEQ - - ID - PubMed: Rauch 2012 - - no - - - - - - 1 Fadi F. Hamdan
?/. 8 c.1258T>C r.(?) p.(Phe420Leu) Unknown ACMG VUS g.33405940T>C g.33438163T>C - - SYNGAP1_000213 ACMG: PS4_supporting,PM2-supporting,PM5-supporting,PP2-supporting,BP4-supporting; (other nucleotide change with same aminoacid change: VUS; VCV001397885.5) - VCV001397885.5 - Germline ? - - - - DNA SEQ-NG-I Blood - MRD5 331349 - - M no Germany - - - - - 1 Andreas Laner
?/. - c.1292T>C r.(?) p.(Leu431Pro) Unknown - VUS g.33405974T>C g.33438197T>C - - SYNGAP1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1312G>A r.(?) p.(Ala438Thr) Unknown - likely benign g.33405994G>A g.33438217G>A SYNGAP1(NM_006772.3):c.1312G>A (p.A438T) - SYNGAP1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1387-2del r.spl p.? Unknown - likely pathogenic g.33406194del g.33438417del - - SYNGAP1_000108 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
./. - c.1491T>C r.(=) p.(=) Unknown - benign g.33406300T>C g.33438523T>C - - SYNGAP1_000091 incl. homozygous cases PubMed: Hamdan 2011 - rs72887798 Unknown - 1/95 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 95 cases - - Canada French - - - - 50 Johan den Dunnen
-?/. - c.1491T>C r.(?) p.(Tyr497=) Unknown - likely benign g.33406300T>C g.33438523T>C SYNGAP1(NM_006772.2):c.1491T>C (p.Y497=) - SYNGAP1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1515C>G r.(?) p.(Tyr505Ter) Unknown - pathogenic g.33406324C>G g.33438547C>G SYNGAP1(NM_006772.2):c.1515C>G (p.Y505*) - SYNGAP1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1531+52C>T r.(=) p.(=) Unknown - benign g.33406392C>T g.33438615C>T - - SYNGAP1_000016 incl. homozygous cases PubMed: Hamdan 2011 - rs45520731 Unknown - 15/95 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 95 cases - - Canada French - - - - 50 Johan den Dunnen
-/. - c.1531+52C>T r.(=) p.(=) Unknown - benign g.33406392C>T g.33438615C>T SYNGAP1(NM_006772.3):c.1531+52C>T - SYNGAP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1536A>G r.(=) p.(=) Unknown - benign g.33406556A>G g.33438779A>G - - SYNGAP1_000017 incl. homozygous cases PubMed: Hamdan 2011 - rs7759963 Unknown - 6/95 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 95 cases - - Canada French - - - - 50 Johan den Dunnen
+/. - c.1549_1554del r.(?) p.(Leu517_Tyr518del) Unknown - pathogenic g.33406569_33406574del g.33438792_33438797del 33406569_33406575delCTGTATGinsG - SYNGAP1_000024 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.1572C>A r.(?) p.(Cys524*) Unknown - pathogenic g.33406592C>A - SYNGAP1(NM_006772.3):c.1572C>A (p.C524*) - SYNGAP1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1581C>T r.(?) p.(Asp527=) Unknown - likely benign g.33406601C>T g.33438824C>T SYNGAP1(NM_006772.3):c.1581C>T (p.D527=) - SYNGAP1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1591_1592del r.(?) p.(Cys531HisfsTer17) Unknown - likely pathogenic g.33406611_33406612del g.33438834_33438835del - - SYNGAP1_000163 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2171 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. 10 c.1630C>T r.? p.(Arg544*) Unknown ACMG pathogenic g.33406650C>T g.33438873C>T - - SYNGAP1_000211 - - ClinVar-522845 rs1554121443 De novo yes - - - - DNA SEQ-NG-I peripheral blood CES ID - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.1639T>C r.(?) p.(Cys547Arg) Unknown - VUS g.33406659T>C - SYNGAP1(NM_006772.2):c.1639T>C (p.C547R) - SYNGAP1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1648G>C r.(?) p.(Ala550Pro) Unknown - VUS g.33406668G>C g.33438891G>C SYNGAP1(NM_006772.2):c.1648G>C (p.(Ala550Pro)) - SYNGAP1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1660G>A r.(?) p.(Val554Met) Unknown - likely benign g.33406680G>A g.33438903G>A SYNGAP1(NM_006772.3):c.1660G>A (p.V554M) - SYNGAP1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1676+2T>C r.spl? p.? Unknown - pathogenic g.33406698T>C g.33438921T>C - - SYNGAP1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1676+199del r.(=) p.(=) Unknown - benign g.33406895del g.33439118del SYNGAP1(NM_006772.3):c.1676+199delA - SYNGAP1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 11 c.1685C>T r.(?) p.(Pro562Leu) Unknown - pathogenic g.33408514C>T g.33440737C>T - - SYNGAP1_000010 confirmed by bidirectional Sanger sequencing PubMed: Berryer 2012 - - De novo - - - - - DNA SEQ - - ID - submitted - F no (Canada) European - - - - 1 Fadi F. Hamdan
+?/. - c.1685C>T r.(?) p.(Pro562Leu) Unknown - likely pathogenic g.33408514C>T g.33440737C>T SYNGAP1(NM_006772.3):c.1685C>T (p.P562L) - SYNGAP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1685C>T r.(?) p.(Pro562Leu) Unknown - pathogenic g.33408514C>T - - - SYNGAP1_000010 - - - rs397514670 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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