Full data view for gene HECW2

Information The variants shown are described using the NM_020760.1 transcript reference sequence.

101 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.-36+3C>G r.spl? p.? Unknown - likely benign g.197457185G>C g.196592461G>C HECW2(NM_020760.3):c.-36+3C>G - HECW2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.44G>A r.(?) p.(Arg15Gln) Unknown - likely benign g.197298104C>T g.196433380C>T HECW2(NM_020760.1):c.44G>A (p.(Arg15Gln)) - HECW2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116A>C r.(?) p.(Glu39Ala) Unknown - likely benign g.197298032T>G - HECW2(NM_020760.1):c.116A>C (p.(Glu39Ala)) - HECW2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.205A>G r.(?) p.(Thr69Ala) Unknown - VUS g.197297943T>C - HECW2(NM_020760.4):c.205A>G (p.T69A) - HECW2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207G>A r.(?) p.(Thr69=) Unknown - likely benign g.197297941C>T - HECW2(NM_020760.3):c.207G>A (p.T69=) - HECW2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.412A>G r.(?) p.(Ile138Val) Unknown ACMG likely pathogenic (dominant) g.197199231T>C g.196334507T>C - - HECW2_000055 ACMG PS2_M, PP2, PP3, PM2; 0.26 reads (mosaic) PubMed: Acharya 2022 - - Somatic - - - - - DNA SEQ, SEQ-NG - - NDD Pat10 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.429C>T r.(?) p.(Tyr143=) Unknown - likely benign g.197199214G>A - HECW2(NM_020760.3):c.429C>T (p.Y143=) - HECW2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433G>A r.(?) p.(Gly145Ser) Unknown - VUS g.197199210C>T - HECW2(NM_020760.1):c.433G>A (p.(Gly145Ser)) - HECW2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.495+8C>T r.(=) p.(=) Unknown - likely benign g.197199140G>A - HECW2(NM_020760.4):c.495+8C>T - HECW2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.533A>G r.(?) p.(Asn178Ser) Unknown - benign g.197194337T>C g.196329613T>C HECW2(NM_020760.3):c.533A>G (p.N178S) - HECW2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.737G>A r.(?) p.(Arg246Gln) Unknown - VUS g.197189708C>T - HECW2(NM_020760.1):c.737G>A (p.(Arg246Gln)) - HECW2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.812G>A r.(?) p.(Arg271His) Unknown - VUS g.197187274C>T g.196322550C>T HECW2(NM_020760.4):c.812G>A (p.R271H) - HECW2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.872G>A r.(?) p.(Arg291Gln) Unknown - likely benign g.197187214C>T - HECW2(NM_020760.4):c.872G>A (p.R291Q) - HECW2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112C>G r.(?) p.(Pro371Arg) Unknown - likely benign g.197184502G>C g.196319778G>C HECW2(NM_020760.1):c.1112C>G (p.(Pro371Arg)) - HECW2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1160G>C r.(?) p.(Arg387Thr) Unknown ACMG likely pathogenic (dominant) g.197184454C>G g.196319730C>G - - HECW2_000061 ACMG PM1,PM2,PP3,PP4 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat102 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
?/. - c.1207T>G r.(?) p.(Ser403Ala) Unknown - VUS g.197184407A>C - HECW2(NM_001348768.2):c.1207T>G (p.(Ser403Ala)) - HECW2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1250A>G r.(?) p.(Asn417Ser) Unknown - likely benign g.197184364T>C - HECW2(NM_020760.3):c.1250A>G (p.N417S) - HECW2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1325G>A r.(?) p.(Gly442Asp) Unknown - VUS g.197184289C>T - HECW2(NM_020760.3):c.1325G>A (p.G442D) - HECW2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1344_1346del r.(?) p.(Arg448del) Unknown - VUS g.197184271_197184273del - HECW2(NM_020760.3):c.1344_1346delGAG (p.R448del) - HECW2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1564G>A r.(?) p.(Glu522Lys) Unknown - VUS g.197184050C>T - HECW2(NM_020760.4):c.1564G>A (p.E522K) - HECW2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1738G>A r.(?) p.(Ala580Thr) Unknown - likely benign g.197183876C>T - HECW2(NM_001348768.2):c.1738G>A (p.(Ala580Thr)) - HECW2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1745C>A r.(?) p.(Thr582Lys) Unknown - likely benign g.197183869G>T - HECW2(NM_001348768.2):c.1745C>A (p.(Thr582Lys)) - HECW2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1756G>A r.(?) p.(Asp586Asn) Unknown - likely benign g.197183858C>T - HECW2(NM_020760.4):c.1756G>A (p.D586N) - HECW2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1820C>A r.(?) p.(Pro607His) Unknown - likely benign g.197183794G>T - HECW2(NM_020760.1):c.1820C>A (p.(Pro607His)) - HECW2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1878C>T r.(?) p.(Ser626=) Unknown - VUS g.197183736G>A g.196319012G>A HECW2(NM_020760.3):c.1878C>T (p.S626=) - HECW2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2097A>C r.(?) p.(Glu699Asp) Unknown - likely benign g.197183517T>G g.196318793T>G HECW2(NM_001304840.1):c.1029A>C (p.(Glu343Asp)), HECW2(NM_020760.3):c.2097A>C (p.E699D) - HECW2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2097A>C r.(?) p.(Glu699Asp) Unknown - likely benign g.197183517T>G g.196318793T>G HECW2(NM_001304840.1):c.1029A>C (p.(Glu343Asp)), HECW2(NM_020760.3):c.2097A>C (p.E699D) - HECW2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2142T>G r.(?) p.(Ser714Arg) Unknown - likely benign g.197183472A>C - HECW2(NM_020760.1):c.2142T>G (p.(Ser714Arg)) - HECW2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2242G>C r.(?) p.(Ala748Pro) Unknown - VUS g.197183372C>G - HECW2(NM_020760.1):c.2242G>C (p.(Ala748Pro)) - HECW2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2448_2450del r.(?) p.(Ile817del) Unknown - VUS g.197172794_197172796del - HECW2(NM_020760.4):c.2448_2450delCAT (p.I817del) - HECW2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2475C>T r.(?) p.(Tyr825=) Unknown - likely benign g.197172769G>A g.196308045G>A HECW2(NM_020760.3):c.2475C>T (p.Y825=) - HECW2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2586-343C>T r.(=) p.(=) Unknown - likely benign g.197172300G>A - HECW2(NM_001348768.2):c.2586-343C>T - HECW2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2587T>C r.spl p.(Tyr863His) Unknown ACMG likely pathogenic (dominant) g.197171956A>G g.196307232A>G - - HECW2_000054 ACMG PS2, PP2, PP3, PM2 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat16 PubMed: Acharya 2022 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.2689+5G>C r.spl? p.? Unknown - likely benign g.197171849C>G - HECW2(NM_020760.1):c.2689+5G>C (p.?) - HECW2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2689+7G>T r.(=) p.(=) Unknown - likely benign g.197171847C>A - HECW2(NM_001348768.2):c.2689+7G>T - HECW2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2818G>A r.(?) p.(Ala940Thr) Unknown ACMG VUS g.197157471C>T g.196292747C>T - - HECW2_000053 ACMG PM2, PP2, PP3 PubMed: Acharya 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
?/. - c.2843C>T r.(?) p.(Thr948Met) Unknown - VUS g.197157446G>A - HECW2(NM_020760.1):c.2843C>T (p.(Thr948Met)) - HECW2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2942C>T r.(?) p.(Ala981Val) Unknown - VUS g.197157347G>A - HECW2(NM_020760.4):c.2942C>T (p.A981V) - HECW2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2963C>T r.(?) p.(Pro988Leu) Unknown - VUS g.197157326G>A g.196292602G>A HECW2(NM_020760.3):c.2963C>T (p.P988L) - HECW2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3000+7C>T r.(=) p.(=) Unknown - likely benign g.197157282G>A - HECW2(NM_020760.3):c.3000+7C>T - HECW2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3038T>G r.(?) p.(Phe1013Cys) Unknown - VUS g.197143349A>C - - - HECW2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3084G>A r.(?) p.(Ala1028=) Unknown - likely benign g.197143303C>T - HECW2(NM_020760.3):c.3084G>A (p.A1028=) - HECW2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3110G>A r.(?) p.(Arg1037Lys) Unknown - VUS g.197143277C>T g.196278553C>T HECW2(NM_020760.4):c.3110G>A (p.R1037K) - HECW2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3175C>T r.(?) p.(Pro1059Ser) Unknown ACMG VUS g.197138808G>A g.196274084G>A - - HECW2_000052 ACMG PM2, PP2, PP3 PubMed: Acharya 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat4 PubMed: Acharya 2022 adopted F - - - - - - - 1 Johan den Dunnen
?/. - c.3272A>T r.(?) p.(Gln1091Leu) Unknown - VUS g.197135980T>A - HECW2(NM_020760.1):c.3272A>T (p.(Gln1091Leu)) - HECW2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3318C>T r.(?) p.(Thr1106=) Unknown - likely benign g.197135934G>A g.196271210G>A HECW2(NM_020760.3):c.3318C>T (p.T1106=) - HECW2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3335+440dup r.(=) p.(=) Unknown - likely benign g.197135477dup - HECW2(NM_001348768.2):c.3335+440dup - HECW2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3380T>C r.(?) p.(Val1127Ala) Unknown - likely benign g.197122586A>G - HECW2(NM_020760.1):c.3380T>C (p.(Val1127Ala)) - HECW2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3382C>T r.(?) p.(Arg1128Cys) Unknown - VUS g.197122584G>A - HECW2(NM_020760.1):c.3382C>T (p.(Arg1128Cys)) - HECW2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.3542C>G r.(?) p.(Ala1181Gly) Parent #1 ACMG likely pathogenic (dominant) g.197106916G>C g.196242192G>C - - HECW2_000036 ACMG PS2, PM2, PP3, PP4; carries two de novo variants on the same allele PubMed: Kritioti 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat12 PubMed: Kritioti 2021 - F - Cyprus Greece - - - - 1 Johan den Dunnen
?/. - c.3545A>G r.(?) p.(Asn1182Ser) Unknown - VUS g.197106913T>C - HECW2(NM_001348768.2):c.3545A>G (p.(Asn1182Ser)) - HECW2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.3572G>A r.(?) p.(Arg1191Gln) Unknown - pathogenic (dominant) g.197106886C>T g.196242162C>T - - HECW2_000001 - PubMed: Berko 2017, Journal: Berko 2017, OMIM:var0001 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDHSAL - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. 20 c.3572G>A r.(?) p.(Arg1191Gln) Unknown - pathogenic (dominant) g.197106886C>T g.196242162C>T - - HECW2_000001 - PubMed: Berko 2017, Journal: Berko 2017, OMIM:var0001 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDHSAL - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.3572G>A r.(?) p.(Arg1191Gln) Unknown ACMG pathogenic (dominant) g.197106886C>T g.196242162C>T - - HECW2_000001 ACMG PS2, PM2, PP2, PP3, PS1 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Acharya 2022 - F - - - - - - - 1 Johan den Dunnen
+/. - c.3572G>A r.(?) p.(Arg1191Gln) Unknown ACMG pathogenic (dominant) g.197106886C>T g.196242162C>T - - HECW2_000001 ACMG PS2, PM2, PP2, PP3, PS1 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat12 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3572G>A r.(?) p.(Arg1191Gln) Unknown ACMG pathogenic (dominant) g.197106886C>T g.196242162C>T - - HECW2_000001 ACMG PS2, PM2, PP2, PP3, PS1 PubMed: Acharya 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat13 PubMed: Acharya 2022 - F - - - - - - - 1 Johan den Dunnen
+/. - c.3572G>A r.(?) p.(Arg1191Gln) Unknown ACMG pathogenic (dominant) g.197106886C>T g.196242162C>T - - HECW2_000001 ACMG PS2, PM2, PP2, PP3, PS1 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat14 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3572G>A r.(?) p.(Arg1191Gln) Unknown ACMG pathogenic (dominant) g.197106886C>T g.196242162C>T - - HECW2_000001 ACMG PS2, PM2, PP2, PP3, PS1 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat22 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3572G>A r.(?) p.(Arg1191Gln) Unknown - pathogenic (dominant) g.197106886C>T g.196242162C>T - - HECW2_000001 - PubMed: Ullman 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient PubMed: Ullman 2018 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.3572G>A r.(?) p.(Arg1191Gln) Unknown - pathogenic g.197106886C>T - HECW2(NM_020760.4):c.3572G>A (p.R1191Q) - HECW2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.3577T>G r.(?) p.(Phe1193Val) Unknown - pathogenic (dominant) g.197106881A>C g.196242157A>C - - HECW2_000002 - PubMed: Berko 2017, Journal: Berko 2017, OMIM:var0002 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDHSAL - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, affected mono-zygotic twin pair, unaffected non-carrier parents F - United States - - - - - 2 Johan den Dunnen
+/. 20 c.3577T>G r.(?) p.(Phe1193Val) Unknown - pathogenic (dominant) g.197106881A>C g.196242157A>C - - HECW2_000002 - PubMed: Berko 2017, Journal: Berko 2017, OMIM:var0002 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDHSAL - PubMed: Berko 2017, Journal: Berko 2017 twin sister F - United States - - - - - 1 Johan den Dunnen
+?/. - c.3583G>C r.(?) p.(Ala1195Pro) Unknown ACMG likely pathogenic (dominant) g.197106875C>G g.196242151C>G - - HECW2_000051 ACMG PS2, PP2, PP3, PM2 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat19 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
+/. 20 c.3587A>G r.(?) p.(Lys1196Arg) Parent #1 ACMG pathogenic (recessive) g.197106871T>C g.196242147T>C - - HECW2_000035 ACMG PS2, PM1, PM2, PP3, PP4; carries two de novo variants on the same allele PubMed: Kritioti 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat12 PubMed: Kritioti 2021 - F - Cyprus Greece - - - - 1 Johan den Dunnen
+?/. - c.3597C>A r.(?) p.(Asn1199Lys) Unknown ACMG likely pathogenic (dominant) g.197106861G>T g.196242137G>T - - HECW2_000050 ACMG PS2, PP2, PP3, PM2 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat11 PubMed: Acharya 2022 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.3597C>A r.(?) p.(Asn1199Lys) Unknown ACMG likely pathogenic (dominant) g.197106861G>T g.196242137G>T - - HECW2_000050 ACMG PS2, PP2, PP3, PM2 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat15 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
?/. - c.3629G>C r.(?) p.(Gly1210Ala) Unknown - VUS g.197106829C>G - HECW2(NM_001348768.2):c.3629G>C (p.(Gly1210Ala)) - HECW2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.3917+2_3917+12delinsG r.3765_3917del p.Leu1256_Trp1306del Both (homozygous) - pathogenic (recessive) g.197092814_197092824delinsC g.196228090_196228100delinsC - - HECW2_000037 - PubMed: Rodríguez-García 2022, Journal: Rodríguez-García 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, skin WES NDHSAL patient PubMed: Rodríguez-García 2022, Journal: Rodríguez-García 2022 - F ? Spain - - - - - 1 Francisco Martínez-Azorín
+?/. - c.3980T>C r.(?) p.(Phe1327Ser) Unknown ACMG likely pathogenic (dominant) g.197090532A>G g.196225808A>G - - HECW2_000049 ACMG PS2, PP2, PP3, PM2 PubMed: Acharya 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Acharya 2022 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.3980T>C r.(?) p.(Phe1327Ser) Unknown ACMG likely pathogenic (dominant) g.197090532A>G g.196225808A>G - - HECW2_000049 ACMG PS2, PP2, PP3, PM2 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
+/. 23 c.3988C>T r.(?) p.(Arg1330Trp) Unknown - pathogenic (dominant) g.197090524G>A g.196225800G>A - - HECW2_000003 - PubMed: Berko 2017, Journal: Berko 2017, OMIM:var0003 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDHSAL - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. 23 c.3988C>T r.(?) p.(Arg1330Trp) Unknown - pathogenic (dominant) g.197090524G>A g.196225800G>A - - HECW2_000003 - PubMed: Berko 2017, Journal: Berko 2017, OMIM:var0003 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - - NDHSAL - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+?/. - c.3988C>T r.(?) p.(Arg1330Trp) Unknown - pathogenic (dominant) g.197090524G>A g.196225800G>A - - HECW2_000003 - - ClinVar-242318 - De novo - - - - - DNA SEQ-NG - - epilepsy - - - F no China Chinese 00y10m - - - 1 Mengna Zhang
+/. - c.3988C>T r.(?) p.(Arg1330Trp) Unknown - pathogenic g.197090524G>A g.196225800G>A HECW2(NM_020760.1):c.3988C>T (p.(Arg1330Trp)) - HECW2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3988C>T r.(?) p.(Arg1330Trp) Unknown ACMG pathogenic (dominant) g.197090524G>A g.196225800G>A - - HECW2_000003 ACMG PS2, PM2, PP2, PP3, PS1 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Acharya 2022 - F - - - - - - - 1 Johan den Dunnen
+/. - c.3988C>T r.(?) p.(Arg1330Trp) Unknown ACMG pathogenic (dominant) g.197090524G>A g.196225800G>A - - HECW2_000003 ACMG PS2, PM2, PP2, PP3, PS1 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat17 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3988C>T r.(?) p.(Arg1330Trp) Unknown - pathogenic (dominant) g.197090524G>A g.196225800G>A - - HECW2_000003 - PubMed: Lu 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DEE patient PubMed: Lu 2021 - F - China - - - - - 1 Johan den Dunnen
+?/. - c.3988C>T r.(?) p.(Arg1330Trp) Unknown ACMG likely pathogenic (dominant) g.197090524G>A - C3988T (R1330W) - HECW2_000003 - PubMed: Halvardson 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Fam21 PubMed: Halvardson 2016 - M - Sweden - - - - - 1 Johan den Dunnen
+/. - c.3988C>T r.(?) p.(Arg1330Trp) Unknown - pathogenic (dominant) g.197090524G>A g.196225800G>A - - HECW2_000003 - PubMed: Nakamura 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Nakamura 2018 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.3988C>T r.(?) p.(Arg1330Trp) Unknown - pathogenic (dominant) g.197090524G>A - NM_020760:c.C3988T (R1330W) - HECW2_000003 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0106 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
-?/. - c.4017T>G r.(?) p.(Ile1339Met) Unknown - likely benign g.197087064A>C g.196222340A>C HECW2(NM_020760.1):c.4017T>G (p.(Ile1339Met)) - HECW2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4096C>A r.(?) p.(His1366Asn) Unknown - likely benign g.197086985G>T - HECW2(NM_020760.1):c.4096C>A (p.(His1366Asn)) - HECW2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4181A>G r.(?) p.(Asn1394Ser) Unknown - likely benign g.197085631T>C - HECW2(NM_020760.3):c.4181A>G (p.N1394S) - HECW2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4223G>C r.(?) p.(Arg1408Thr) Unknown - likely benign g.197085589C>G - HECW2(NM_020760.4):c.4223G>C (p.R1408T) - HECW2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4321T>A r.(?) p.(Phe1441Ile) Unknown - VUS g.197084850A>T - HECW2(NM_020760.4):c.4321T>A (p.F1441I) - HECW2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4323T>G r.(?) p.(Phe1441Leu) Unknown ACMG likely pathogenic (dominant) g.197084848A>C g.196220124A>C - - HECW2_000048 ACMG PS2, PP2, PP3, PM2 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.4333G>C r.(?) p.(Glu1445Gln) Unknown ACMG pathogenic (dominant) g.197084838C>G g.196220114C>G - - HECW2_000047 ACMG PS2, PP2, PP3, PM2, PM5 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat21 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
+/. 26 c.4334A>G r.(?) p.(Glu1445Gly) Unknown - pathogenic (dominant) g.197084837T>C g.196220113T>C - - HECW2_000004 - PubMed: Berko 2017, Journal: Berko 2017, OMIM:var0004 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDHSAL - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.4341A>T r.(?) p.(Glu1447Asp) Unknown - VUS g.197084830T>A g.196220106T>A HECW2(NM_020760.4):c.4341A>T (p.E1447D) - HECW2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4351G>A r.(?) p.(Ala1451Thr) Unknown - likely pathogenic g.197084820C>T g.196220096C>T - - HECW2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4355G>T r.(?) p.(Gly1452Val) Unknown ACMG likely pathogenic (dominant) g.197084816C>A g.196220092C>A - - HECW2_000046 ACMG PS2, PP2, PP3, PM2 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Acharya 2022 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.4476A>C r.(?) p.(Gln1492His) Unknown - likely benign g.197081750T>G - HECW2(NM_020760.1):c.4476A>C (p.(Gln1492His)) - HECW2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4478G>A r.(?) p.(Arg1493Gln) Paternal (confirmed) - VUS g.197081748C>T g.196217024C>T - - HECW2_000006 - - - - Germline - - - - - DNA, RNA SEQ-NG - - epilepsy - - - F - China Chinese 00y04m - - - 1 Mengna Zhang
+/. - c.4484G>A r.(?) p.(Arg1495Lys) Unknown - pathogenic (dominant) g.197081742C>T g.196217018C>T - - HECW2_000042 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ-NG - WES DEE - PubMed: Hamdan 2017 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.4485G>T r.(?) p.(Arg1495Ser) Unknown - pathogenic (dominant) g.197081741C>A g.196217017C>A - - HECW2_000041 - PubMed: Peikes 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient PubMed: Peikes 2021 - F - Canada - - - - - 1 Johan den Dunnen
+?/. - c.4507A>G r.(?) p.(Thr1503Ala) Unknown ACMG likely pathogenic (dominant) g.197080689T>C g.196215965T>C - - HECW2_000045 ACMG PS2, PP2, PP3, PM2 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat20 PubMed: Acharya 2022 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.4511C>A r.(?) p.(Ser1504Tyr) Unknown ACMG likely pathogenic (dominant) g.197080685G>T g.196215961G>T - - HECW2_000044 ACMG PS2, PP2, PP3, PM2 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Acharya 2022 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.4514G>C r.(?) p.(Ser1505Thr) Unknown ACMG likely pathogenic (dominant) g.197080682C>G g.196215958C>G - - HECW2_000043 ACMG PS2, PP2, PP3, PM2 PubMed: Acharya 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat18 PubMed: Acharya 2022 - F - - - - - - - 1 Johan den Dunnen
?/. - c.4556G>T r.(?) p.(Gly1519Val) Unknown - VUS g.197080640C>A - HECW2(NM_020760.4):c.4556G>T (p.G1519V) - HECW2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4610C>T r.(?) p.(Ala1537Val) Unknown - likely benign g.197066110G>A - HECW2(NM_020760.4):c.4610C>T (p.A1537V) - HECW2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.