Full data view for gene CHD2

Information The variants shown are described using the NM_001271.3 transcript reference sequence.

271 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.-367G>C r.(?) p.(=) Parent #1 - likely benign g.93443759G>C g.92900529G>C - - CHASERR_000004 - PubMed: Ganesh 2024 - - De novo - - - - - DNA PCR, SEQ - - NDD Pat1 PubMed: Ganesh 2024 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - 1 Johan den Dunnen
-?/. - c.-72+12A>G r.(=) p.(=) Unknown - likely benign g.93444066A>G g.92900836A>G CHD2(NM_001271.4):c.-72+12A>G - CHD2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-71-104T>G r.(=) p.(=) Unknown - likely benign g.93444293T>G g.92901063T>G CHD2(NM_001271.4):c.-71-104T>G - CHD2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.? p.? Unknown ACMG pathogenic g.? - D314MfsX32 - IGF1R_000000 - PubMed: Zhou 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - target gene panel epilepsy Pat101 PubMed: Zhou 2018 - F - China - - - - - 1 Johan den Dunnen
-?/. - c.25C>A r.(?) p.(Gln9Lys) Unknown - likely benign g.93444492C>A - - - CHD2_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.59C>A r.(?) p.(Ser20*) Unknown - likely pathogenic g.93444526C>A - CHD2(NM_001271.4):c.59C>A (p.(Ser20*)) - CHD2_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.62+3534A>G r.(=) p.(=) Unknown - likely benign g.93448063A>G g.92904833A>G CHD2(NM_001271.4):c.62+3534A>G - CHD2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.62+3644G>C r.(=) p.(=) Unknown - likely benign g.93448173G>C g.92904943G>C CHD2(NM_001271.4):c.62+3644G>C - CHD2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.62+3672A>G r.(=) p.(=) Unknown - likely benign g.93448201A>G g.92904971A>G CHD2(NM_001271.4):c.62+3672A>G - CHD2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.106C>T r.(?) p.(Gln36Ter) Unknown - pathogenic g.93467594C>T g.92924364C>T - - CHD2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110C>T r.(?) p.(Ser37Leu) Unknown - VUS g.93467598C>T - CHD2(NM_001271.3):c.110C>T (p.(Ser37Leu)) - CHD2_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.149G>A r.(?) p.(Gly50Asp) Unknown - VUS g.93467637G>A g.92924407G>A - - CHD2_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_663:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.180T>G r.(?) p.(Ser60=) Unknown - likely benign g.93467668T>G g.92924438T>G CHD2(NM_001271.4):c.180T>G (p.S60=) - CHD2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185G>A r.(?) p.(Ser62Asn) Unknown - VUS g.93467673G>A - CHD2(NM_001271.3):c.185G>A (p.(Ser62Asn)) - CHD2_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239C>T r.(?) p.(Pro80Leu) Unknown - likely benign g.93467727C>T g.92924497C>T CHD2(NM_001271.3):c.239C>T (p.P80L), CHD2(NM_001271.4):c.239C>T (p.(Pro80Leu), p.P80L) - CHD2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239C>T r.(?) p.(Pro80Leu) Unknown - VUS g.93467727C>T g.92924497C>T CHD2(NM_001271.3):c.239C>T (p.P80L), CHD2(NM_001271.4):c.239C>T (p.(Pro80Leu), p.P80L) - CHD2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239C>T r.(?) p.(Pro80Leu) Unknown - likely benign g.93467727C>T - CHD2(NM_001271.3):c.239C>T (p.P80L), CHD2(NM_001271.4):c.239C>T (p.(Pro80Leu), p.P80L) - CHD2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239C>T r.(?) p.(Pro80Leu) Unknown - likely benign g.93467727C>T - CHD2(NM_001271.3):c.239C>T (p.P80L), CHD2(NM_001271.4):c.239C>T (p.(Pro80Leu), p.P80L) - CHD2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.295-154A>T r.(=) p.(=) Unknown - likely benign g.93470320A>T g.92927090A>T CHD2(NM_001271.4):c.295-154A>T - CHD2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.295-20G>A r.(=) p.(=) Unknown - likely benign g.93470454G>A g.92927224G>A CHD2(NM_001271.4):c.295-20G>A - CHD2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.335C>G r.(?) p.(Ser112*) Unknown - pathogenic (dominant) g.93470514C>G g.92927284C>G - - CHD2_000185 Variant Error [EREF/0]: 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: Hamdan 2015 - - De novo - - - - - DNA SEQ-NG - WES ID 1396.504 PubMed: Hamdan 2015 - F - Canada - - - - - 1 Johan den Dunnen
?/. - c.340C>T r.(?) p.(Arg114Ter) Unknown - VUS g.93470519C>T g.92927289C>T CHD2(NM_001271.3):c.340C>T (p.(Arg114Ter)) - CHD2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.359C>T r.(?) p.(Ser120Leu) Unknown - VUS g.93470538C>T - CHD2(NM_001271.4):c.359C>T (p.S120L) - CHD2_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.361C>T r.(?) p.(Arg121*) Unknown - pathogenic (dominant) g.93470540C>T g.92927310C>T Arg121* - CHD2_000179 - PubMed: Carvill 2013 - - De novo - - - - - DNA SEQ, SEQ-NG - 65-gene panel EE T18697 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.382-179T>C r.(=) p.(=) Unknown - likely benign g.93472081T>C g.92928851T>C CHD2(NM_001271.4):c.382-179T>C - CHD2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.382del r.(?) p.(Ala128GlnfsTer18) Unknown - VUS g.93472260del g.92929030del CHD2(NM_001271.3):c.382-1delG - CHD2_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.443+223T>G r.(=) p.(=) Unknown - likely benign g.93472544T>G g.92929314T>G CHD2(NM_001271.4):c.443+223T>G - CHD2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444-2219G>C r.(=) p.(=) Unknown - likely benign g.93478529G>C - CHD2(NM_001271.4):c.444-2219G>C - CHD2_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.444-237dup r.(=) p.(=) Unknown - benign g.93480511dup g.92937281dup CHD2(NM_001271.4):c.444-237dupA - CHD2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444-4A>C r.spl? p.? Unknown - likely benign g.93480744A>C g.92937514A>C CHD2(NM_001271.4):c.444-4A>C - CHD2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.532A>T r.(?) p.(Arg178*) Unknown ACMG pathogenic g.93480836A>T - - - CHD2_000196 ACMG PVS1, PS2, PM2, PP3; The patient's electro-clinical phenotype, with prominent photosensitivity in particular, has overlapping features with what has previously been reported for CHD2. The novel stop variant is confirmed de novo and thus it is therefore with high confidence we expand the CHD2 clinical spectrum to PME. PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - DNA SEQ, SEQ-NG WES trio - epilepsy PME11 PubMed: Courage 2021, Journal: Courage 2021 - M no Italy - - - - - 1 Carolina Courage
-?/. - c.551+116C>A r.(=) p.(=) Unknown - likely benign g.93480971C>A g.92937741C>A CHD2(NM_001271.4):c.551+116C>A - CHD2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.568C>T r.(?) p.(Arg190Cys) Unknown - VUS g.93482824C>T g.92939594C>T CHD2(NM_001271.4):c.568C>T (p.R190C) - CHD2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.595C>T r.(?) p.(Arg199Cys) Unknown - likely benign g.93482851C>T - CHD2(NM_001271.4):c.595C>T (p.R199C) - CHD2_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.608A>G r.(?) p.(Lys203Arg) Unknown - likely benign g.93482864A>G g.92939634A>G CHD2(NM_001271.3):c.608A>G (p.K203R, p.(Lys203Arg)), CHD2(NM_001271.4):c.608A>G (p.K203R) - CHD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.608A>G r.(?) p.(Lys203Arg) Unknown - likely benign g.93482864A>G g.92939634A>G CHD2(NM_001271.3):c.608A>G (p.K203R, p.(Lys203Arg)), CHD2(NM_001271.4):c.608A>G (p.K203R) - CHD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.608A>G r.(?) p.(Lys203Arg) Unknown - likely benign g.93482864A>G - CHD2(NM_001271.3):c.608A>G (p.K203R, p.(Lys203Arg)), CHD2(NM_001271.4):c.608A>G (p.K203R) - CHD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.692+116C>G r.(=) p.(=) Unknown - likely benign g.93483064C>G g.92939834C>G CHD2(NM_001271.4):c.692+116C>G - CHD2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693-125G>T r.(=) p.(=) Unknown - likely benign g.93484927G>T g.92941697G>T CHD2(NM_001271.4):c.693-125G>T - CHD2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.693-122C>G r.(=) p.(=) Unknown - benign g.93484930C>G g.92941700C>G CHD2(NM_001271.4):c.693-122C>G - CHD2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693-20C>T r.(=) p.(=) Unknown - likely benign g.93485032C>T g.92941802C>T CHD2(NM_001271.4):c.693-20C>T - CHD2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.754G>A r.(?) p.(Gly252Arg) Unknown - VUS g.93485113G>A - CHD2(NM_001271.4):c.754G>A (p.G252R) - CHD2_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.767del r.(?) p.(Gln256Argfs*12) Unknown - VUS g.93485126del g.92941896del - - CHD2_000200 - - - - De novo - - - - - DNA SEQ-NG - WES EEOC 095P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
?/. - c.826G>A r.(?) p.(Ala276Thr) Unknown - VUS g.93485185G>A - CHD2(NM_001271.4):c.826G>A (p.(Ala276Thr)) - CHD2_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.826+27A>T r.(=) p.(=) Unknown - likely benign g.93485212A>T g.92941982A>T CHD2(NM_001271.4):c.826+27A>T - CHD2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.826+115T>C r.(=) p.(=) Unknown - likely benign g.93485300T>C g.92942070T>C CHD2(NM_001271.4):c.826+115T>C - CHD2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.827-193dup r.(=) p.(=) Unknown - benign g.93485880dup g.92942650dup CHD2(NM_001271.4):c.827-193dupG - CHD2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.827-146G>C r.(=) p.(=) Unknown - likely benign g.93485927G>C g.92942697G>C CHD2(NM_001271.4):c.827-146G>C - CHD2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.922C>T r.(?) p.(Leu308Phe) Unknown - VUS g.93486168C>T g.92942938C>T CHD2(NM_001271.3):c.922C>T (p.(Leu308Phe)) - CHD2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.922C>T r.(?) p.(Leu308Phe) Unknown - VUS g.93486168C>T - CHD2(NM_001271.3):c.922C>T (p.(Leu308Phe)) - CHD2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960A>T r.(?) p.(Thr320=) Unknown - likely benign g.93486206A>T g.92942976A>T CHD2(NM_001271.3):c.960A>T (p.T320=) - CHD2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.983A>G r.(?) p.(Gln328Arg) Unknown - VUS g.93486229A>G - CHD2(NM_001271.3):c.983A>G (p.(Gln328Arg)) - CHD2_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038C>T r.(?) p.(Asp346=) Unknown - likely benign g.93486284C>T g.92943054C>T CHD2(NM_001271.3):c.1038C>T (p.D346=) - CHD2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1052+1G>T r.spl? p.? Unknown - likely pathogenic g.93486299G>T - CHD2(NM_001271.3):c.1052+1G>T (p.?) - CHD2_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1053-96A>G r.(=) p.(=) Unknown - likely benign g.93487549A>G g.92944319A>G CHD2(NM_001271.4):c.1053-96A>G - CHD2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1053-46C>T r.(=) p.(=) Unknown - likely benign g.93487599C>T g.92944369C>T CHD2(NM_001271.4):c.1053-46C>T - CHD2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1091A>G r.(?) p.(Asn364Ser) Unknown - likely benign g.93487683A>G g.92944453A>G CHD2(NM_001271.4):c.1091A>G (p.N364S) - CHD2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1153+1G>A r.spl? p.? Unknown - likely pathogenic g.93487746G>A g.92944516G>A - - CHD2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1153+163G>A r.(=) p.(=) Unknown - likely benign g.93487908G>A g.92944678G>A CHD2(NM_001271.4):c.1153+163G>A - CHD2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1154-197C>T r.(=) p.(=) Unknown - likely benign g.93488854C>T g.92945624C>T CHD2(NM_001271.4):c.1154-197C>T - CHD2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1154-113del r.(=) p.(=) Unknown - likely benign g.93488938del g.92945708del CHD2(NM_001271.4):c.1154-113delT - CHD2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1154-110T>C r.(=) p.(=) Unknown - likely benign g.93488941T>C g.92945711T>C CHD2(NM_001271.4):c.1154-110T>C - CHD2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1199-20A>T r.(=) p.(=) Unknown - likely benign g.93489248A>T g.92946018A>T CHD2(NM_001271.4):c.1199-20A>T - CHD2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1214C>T r.(?) p.(Pro405Leu) Unknown - likely benign g.93489283C>T - CHD2(NM_001271.4):c.1214C>T (p.P405L) - CHD2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1215G>A r.(?) p.(Pro405=) Unknown - likely benign g.93489284G>A g.92946054G>A CHD2(NM_001271.4):c.1215G>A (p.P405=) - CHD2_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - VUS g.93489295A>G g.92946065A>G CHD2(NM_001042572.2):c.1226A>G (p.(Asn409Ser)) - CHD2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1274G>C r.(?) p.(Cys425Ser) Unknown - likely benign g.93489343G>C g.92946113G>C CHD2(NM_001271.3):c.1274G>C (p.(Cys425Ser)), CHD2(NM_001271.4):c.1274G>C (p.C425S) - CHD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1274G>C r.(?) p.(Cys425Ser) Unknown - VUS g.93489343G>C - CHD2(NM_001271.3):c.1274G>C (p.(Cys425Ser)), CHD2(NM_001271.4):c.1274G>C (p.C425S) - CHD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1274G>C r.(?) p.(Cys425Ser) Unknown - VUS g.93489343G>C - CHD2(NM_001271.3):c.1274G>C (p.(Cys425Ser)), CHD2(NM_001271.4):c.1274G>C (p.C425S) - CHD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1377G>A r.(?) p.(Lys459=) Unknown - VUS g.93489446G>A - CHD2(NM_001271.4):c.1377G>A (p.K459=) - CHD2_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1377+4T>C r.spl? p.? Unknown - likely benign g.93489450T>C - CHD2(NM_001271.4):c.1377+4T>C - CHD2_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1377+151A>T r.(=) p.(=) Unknown - likely benign g.93489597A>T g.92946367A>T CHD2(NM_001271.4):c.1377+151A>T - CHD2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1378-96T>G r.(=) p.(=) Unknown - likely benign g.93492086T>G g.92948856T>G CHD2(NM_001271.4):c.1378-96T>G - CHD2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1378-5T>C r.spl? p.? Unknown - likely benign g.93492177T>C g.92948947T>C CHD2(NM_001271.4):c.1378-5T>C - CHD2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1396C>T r.(?) p.(Arg466*) Unknown ACMG pathogenic (dominant) g.93492200C>T g.92948970C>T - - CHD2_000186 ACMG PSV1, PS1, PS2, PM2, PP5 PubMed: Johannesen 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - candidate gene panel epilepsy Pat4 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Denmark - - - - - 1 Johan den Dunnen
+/. - c.(1431_1432del) r.(?) p.(Arg1644Lysfs*22) Unknown - pathogenic (dominant) g.(93563266_93563267del) - Arg1644Lysfs*22 - CHD2_000184 Variant Error [ESYNTAX]: This genomic variant has an error (char 32: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Carvill 2013 - - De novo - - - - - DNA SEQ, SEQ-NG - 65-gene panel EE T20240 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.(1471_1472insT) r.(?) p.(Gly491Valfs*13) Unknown - pathogenic (dominant) g.(93492275_93492276insT) - Gly491Valfs*13 - CHD2_000180 Variant Error [ESYNTAX]: This genomic variant has an error (char 32: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Carvill 2013 - - De novo - - - - - DNA SEQ, SEQ-NG - 65-gene panel EE T2608 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1486G>C r.(?) p.(Ala496Pro) Unknown - likely pathogenic g.93492290G>C - CHD2(NM_001271.4):c.1486G>C (p.A496P) - CHD2_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1502+145A>G r.(=) p.(=) Unknown - likely benign g.93492451A>G g.92949221A>G CHD2(NM_001271.4):c.1502+145A>G - CHD2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1502+156A>G r.(=) p.(=) Unknown - likely benign g.93492462A>G g.92949232A>G CHD2(NM_001271.4):c.1502+156A>G - CHD2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1618G>A r.(?) p.(Val540Ile) Unknown - VUS g.93496702G>A g.92953472G>A - - CHD2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1642T>C r.(?) p.(Trp548Arg) Unknown - pathogenic g.93496726T>C g.92953496T>C - - CHD2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1642T>M r.(?) p.(Trp548Arg) Unknown - pathogenic (dominant) g.93496726T>M - Trp548Arg - CHD2_000178 - PubMed: Carvill 2013 - - De novo - - - - - DNA SEQ, SEQ-NG - 65-gene panel EE T17756 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1645C>T r.(?) p.(Gln549*) Unknown - pathogenic g.93496729C>T - - - CHD2_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1693A>G r.(?) p.(Ile565Val) Unknown - pathogenic (dominant) g.93496777A>G g.92953547A>G - - CHD2_000219 - PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat65 PubMed: Chuan 2022 - F - China - - - - - 1 Johan den Dunnen
?/. 14 c.1709G>A r.(?) p.(Ser570Asn) Unknown - VUS g.93496793G>A g.92953563G>A - - CHD2_000198 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4228 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.1719G>A r.(?) p.(Thr573=) Unknown - pathogenic g.93496803G>A - - - CHD2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1719+12A>G r.(=) p.(=) Unknown - likely benign g.93496815A>G g.92953585A>G CHD2(NM_001271.4):c.1719+12A>G - CHD2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1719+116C>T r.(=) p.(=) Unknown - likely benign g.93496919C>T g.92953689C>T CHD2(NM_001271.4):c.1719+116C>T - CHD2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1810-158A>G r.(=) p.(=) Unknown - likely benign g.93499531A>G g.92956301A>G CHD2(NM_001271.4):c.1810-158A>G - CHD2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1810-3T>C r.spl? p.? Unknown - likely benign g.93499686T>C - CHD2(NM_001271.4):c.1810-3T>C - CHD2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1854A>T r.(?) p.(Glu618Asp) Unknown - pathogenic (dominant) g.93499733A>T - - - CHD2_000190 - PubMed: Mahler 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat17 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - 1 Johan den Dunnen
+?/. - c.1880_1883del r.(?) p.(Ser627Tyrfs*6) Unknown ACMG likely pathogenic g.93499759_93499762del g.92956529_92956532del 1880_1883delCTTT - CHD2_000187 ACMG PSV1, PM2; father not available PubMed: Johannesen 2020, PubMed: Moller 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - candidate gene panel epilepsy Pat5 PubMed: Johannesen 2020, PubMed: Moller 2016 2-generation family, 1 affected, unaffected parents M - Denmark - - - - - 1 Johan den Dunnen
./. - c.1942C>T r.(?) p.(Pro648Ser) Unknown - pathogenic g.93499821C>T g.92956591C>T - - CHD2_000002 - 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.2000+24A>G r.(=) p.(=) Unknown - likely benign g.93499903A>G g.92956673A>G CHD2(NM_001271.4):c.2000+24A>G - CHD2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2000+117G>A r.(=) p.(=) Unknown - likely benign g.93499996G>A g.92956766G>A CHD2(NM_001271.4):c.2000+117G>A - CHD2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2049A>G r.(?) p.(Glu683=) Unknown - benign g.93510603A>G g.92967373A>G CHD2(NM_001271.4):c.2049A>G (p.E683=) - CHD2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2068C>T r.(?) p.(His690Tyr) Unknown ACMG likely pathogenic g.93510622C>T g.92967392C>T - - CHD2_000003 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - EEOC - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+/. - c.2095C>T r.(?) p.(Arg699Trp) Unknown - pathogenic g.93510649C>T - - - CHD2_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2189+68T>C r.(=) p.(=) Unknown - likely benign g.93510811T>C g.92967581T>C CHD2(NM_001271.4):c.2189+68T>C - CHD2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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