Full data view for gene EIF2C2

NOTE: gene name changed from EIF2C2 to AGO2
Information The variants shown are described using the NM_012154.3 transcript reference sequence.

101 entries on 2 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     
+/. _1_3i c.(?_-171995)_(336+642_337-1)del r.0 p.0 Unknown - pathogenic (dominant) g.(141572734_141582269)_(141817600_?)del g.(140562635_140572170)_(140807501_?)del - arr[GRCh37] 8q24.3(141582269_141817600)x1 dn EIF2C2_000021 235kb deletion PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat21 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.38C>T r.(?) p.(Ala13Val) Unknown - likely benign g.141595395G>A - AGO2(NM_012154.5):c.38C>T (p.(Ala13Val)) - EIF2C2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.50C>A r.(?) p.(Pro17His) Unknown - VUS g.141595383G>T - AGO2(NM_012154.3):c.50C>A (p.(Pro17His)), AGO2(NM_012154.5):c.50C>A (p.P17H) - EIF2C2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.50C>A r.(?) p.(Pro17His) Unknown - VUS g.141595383G>T - AGO2(NM_012154.3):c.50C>A (p.(Pro17His)), AGO2(NM_012154.5):c.50C>A (p.P17H) - EIF2C2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.77C>T r.(?) p.(Pro26Leu) Unknown - VUS g.141595356G>A g.140585257G>A - - EIF2C2_000027 - PubMed: Boucher 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - Healthy/Control 33026-5 PubMed: Boucher 2020 control - - France - - - - - 1 Johan den Dunnen
?/. - c.216-4884A>G r.(=) p.(=) Both (homozygous) - VUS g.141587915T>C g.140577816T>C - - EIF2C2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.220A>G r.(?) p.(Ile74Val) Unknown - likely benign g.141583027T>C g.140572928T>C AGO2(NM_001164623.1):c.220A>G (p.(Ile74Val)) - EIF2C2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.337-5C>T r.spl? p.? Unknown - VUS g.141572738G>A g.140562639G>A AGO2(NM_001164623.1):c.337-5C>T (p.?) - EIF2C2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i_5 c.519-24_529del r.spl p.? Unknown - pathogenic (dominant) g.141570600_141570634del g.140560501_140560535del - - chr8_006038 ACMG PVS1, PS2_mod, PM2_supp, PP3_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat45 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Davor Lessel
+?/. - c.539C>T r.(?) p.(Ser180Phe) Unknown - likely pathogenic (dominant) g.141570589G>A g.140560490G>A - - chr8_006011 ACMG PM1_mod, PM2_supp, PP1_mod, PP2_supp, PP3_supp Journal: Tibbe 2026 - - Germline/De novo (untested) - 4/45 individuals - - - DNA SEQ-NG - - LESKRES Pat1 Journal: Tibbe 2026 2-generation family, affected mother)3 children F - - - - - - - 4 Davor Lessel
+?/. - c.539C>T r.(?) p.(Ser180Phe) Maternal (confirmed) - likely pathogenic (dominant) g.141570589G>A g.140560490G>A - - chr8_006011 ACMG PM1_mod, PM2_supp, PP1_mod, PP2_supp, PP3_supp Journal: Tibbe 2026 - - Germline yes 4/45 individuals - - - DNA SEQ-NG - - LESKRES Pat2 Journal: Tibbe 2026 son M - - - - - - - 1 Davor Lessel
+?/. - c.539C>T r.(?) p.(Ser180Phe) Maternal (confirmed) - likely pathogenic (dominant) g.141570589G>A g.140560490G>A - - chr8_006011 ACMG PM1_mod, PM2_supp, PP1_mod, PP2_supp, PP3_supp Journal: Tibbe 2026 - - Germline yes 4/45 individuals - - - DNA SEQ-NG - - LESKRES Pat3 Journal: Tibbe 2026 son M - - - - - - - 1 Davor Lessel
+?/. - c.539C>T r.(?) p.(Ser180Phe) Maternal (confirmed) - likely pathogenic (dominant) g.141570589G>A g.140560490G>A - - chr8_006011 ACMG PM1_mod, PM2_supp, PP1_mod, PP2_supp, PP3_supp Journal: Tibbe 2026 - - Germline yes 4/45 individuals - - - DNA SEQ-NG - - LESKRES Pat4 Journal: Tibbe 2026 son M - - - - - - - 1 Davor Lessel
+/. - c.544_546del r.(?) p.(Phe182del) Unknown - pathogenic (dominant) g.141570586_141570588del g.140560487_140560489del - - EIF2C2_000020 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Russia - - - - - 1 Johan den Dunnen
+/. - c.544_546del r.(?) p.(Phe182del) Unknown - pathogenic g.141570586_141570588del - - - EIF2C2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.544_546del r.(?) p.(Phe182del) Unknown - pathogenic (dominant) g.141570586_141570588del g.140560487_140560489del - - EIF2C2_000020 ACMG PS2_mod, PS3_strong, PS4_supp,PM1_mod, PM2_supp, PP2_supp, PP5_supp Journal: Tibbe 2026 - - De novo - 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat5 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+/. - c.544_546del r.(?) p.(Phe182del) Unknown - pathogenic (dominant) g.141570586_141570588del g.140560487_140560489del - - EIF2C2_000020 ACMG PS2_mod, PS3_strong, PS4_supp,PM1_mod, PM2_supp, PP2_supp, PP5_supp; father not available Journal: Tibbe 2026 - - Germline/De novo (untested) - 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat6 Journal: Tibbe 2026 patient M - - - - - - - 1 Davor Lessel
+/. - c.575T>C r.(?) p.(Leu192Pro) Unknown - pathogenic (dominant) g.141570553A>G g.140560454A>G 575A>G - EIF2C2_000019 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.575T>C r.(?) p.(Leu192Pro) Unknown - pathogenic (dominant) g.141570553A>G g.140560454A>G 575A>G - EIF2C2_000019 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.579_581del r.(?) p.(Gly195del) Unknown - likely pathogenic (dominant) g.141570549_141570551del g.140560450_140560452del - - chr8_006012 ACMG PS2_mod, PM1_mod, PM2_supp, PM4_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat7 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+?/. - c.601G>T r.(?) p.(Gly201Cys) Unknown - likely pathogenic g.141570527C>A g.140560428C>A - - EIF2C2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.601G>T r.(?) p.(Gly201Cys) Unknown - pathogenic (dominant) g.141570527C>A g.140560428C>A - - EIF2C2_000010 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat4 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.601G>T r.(?) p.(Gly201Cys) Unknown - pathogenic (dominant) g.141570527C>A g.140560428C>A - - EIF2C2_000010 ACMG PS2_mod, PS3_strong, PS4_supp, PM1_mod, PM2_supp, PP2_supp, PP3_mod Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat8 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+/. - c.602G>T r.(?) p.(Gly201Val) Unknown - pathogenic g.141570526C>A g.140560427C>A AGO2(NM_012154.5):c.602G>T (p.G201V) - EIF2C2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.602G>T r.(?) p.(Gly201Val) Unknown - pathogenic (dominant) g.141570526C>A g.140560427C>A - - EIF2C2_000009 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.602G>T r.(?) p.(Gly201Val) Unknown - pathogenic (dominant) g.141570526C>A g.140560427C>A - - EIF2C2_000009 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.608A>G r.(?) p.(His203Arg) Unknown - pathogenic (dominant) g.141570520T>C g.140560421T>C - - chr8_006013 ACMG PS2_mod, PM1_mod, PM2_supp, PM5_mod, PP2_supp,PP3_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat9 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Davor Lessel
?/. - c.609T>A r.(?) p.(His203Gln) Unknown - VUS g.141570519A>T g.140560420A>T - - EIF2C2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.609T>A r.(?) p.(His203Gln) Unknown - pathogenic (dominant) g.141570519A>T g.140560420A>T - - EIF2C2_000008 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.626C>G r.(?) p.(Ser209Cys) Unknown - VUS g.141570502G>C - AGO2(NM_012154.5):c.626C>G (p.S209C) - EIF2C2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.765G>T r.(?) p.(Arg255Ser) Unknown - VUS g.141569519C>A g.140559420C>A - - chr8_006014 ACMG PS2_mod, PM2_supp, PP2_supp, PP3_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat10 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
?/. - c.805A>G r.(?) p.(Ile269Val) Unknown - VUS g.141568657T>C - AGO2(NM_012154.5):c.805A>G (p.I269V) - EIF2C2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.859C>T r.(?) p.(Arg287Trp) Unknown - VUS g.141568603G>A - - - EIF2C2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.878+357G>A r.(=) p.(=) Unknown - likely benign g.141568227C>T - AGO2(NM_012154.5):c.878+357G>A - EIF2C2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.879-4T>C r.spl? p.? Unknown - VUS g.141567339A>G - AGO2(NM_012154.5):c.879-4T>C - EIF2C2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.995A>C r.(?) p.(Gln332Pro) Paternal (confirmed) - likely pathogenic (dominant) g.141567219T>G g.140557120T>G - - chr8_006015 ACMG PM2_supp, PP1_mod, PP2_supp, PP3_supp, PP4_supp Journal: Tibbe 2026 - - Germline yes 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat11 Journal: Tibbe 2026 2-generation family, 3 affected (child/father/sister) F - - - - - - - 3 Davor Lessel
-?/. - c.1070C>T r.(?) p.(Thr357Met) Unknown - likely benign g.141566342G>A g.140556243G>A - - EIF2C2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1070C>T r.(?) p.(Thr357Met) Unknown - pathogenic (dominant) g.141566342G>A g.140556243G>A - - EIF2C2_000006 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1070C>T r.(?) p.(Thr357Met) Maternal (confirmed) - pathogenic (dominant) g.141566342G>A g.140556243G>A - - EIF2C2_000006 - PubMed: Lessel 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - white - - - - 2 Johan den Dunnen
+/. - c.1070C>T r.(?) p.(Thr357Met) Unknown - pathogenic (dominant) g.141566342G>A g.140556243G>A - - EIF2C2_000006 - PubMed: Lessel 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat10 PubMed: Lessel 2020 mother Pat9 - - - white - - - - 1 Johan den Dunnen
+/. - c.1070C>T r.(?) p.(Thr357Met) Unknown - pathogenic (dominant) g.141566342G>A g.140556243G>A - - EIF2C2_000006 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat11 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1070C>T r.(?) p.(Thr357Met) Unknown - pathogenic (dominant) g.141566342G>A g.140556243G>A - - EIF2C2_000006 ACMG PS_mod2, PS3_supp, PS4_mod, PM1_mod, PM2_supp, PP2_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat12 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
?/. - c.1075A>C r.(?) p.(Asn359His) Unknown - VUS g.141566337T>G g.140556238T>G - - chr8_006016 ACMG PS3_supp, PM1_mod, PM2_supp, PP2_supp; variant not maternal Journal: Tibbe 2026 - - Germline/De novo (untested) - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat13 Journal: Tibbe 2026 patient M - - - - - - - 1 Davor Lessel
+?/. - c.1079A>G r.(?) p.(Gln360Arg) Unknown - likely pathogenic (dominant) g.141566333T>C g.140556234T>C - - chr8_006017 ACMG PS2_mod, PM1_mod, PM2_supp, PP2_supp, PP3_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat14 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
?/. - c.1091T>C r.(?) p.(Met364Thr) Unknown - VUS g.141566321A>G g.140556222A>G - - EIF2C2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1091T>C r.(?) p.(Met364Thr) Unknown - pathogenic (dominant) g.141566321A>G g.140556222A>G - - EIF2C2_000005 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat12 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1091T>C r.(?) p.(Met364Thr) Unknown - pathogenic (dominant) g.141566321A>G g.140556222A>G - - EIF2C2_000005 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat13 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.1092G>A r.(?) p.(Met364Ile) Unknown - likely pathogenic (dominant) g.141566320C>T g.140556221C>T - - chr8_006018 ACMG PS2_mod, PM1_mod, PM2_supp, PM5_mod, PP2_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat15 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+?/. - c.1093A>C r.(?) p.(Ile365Leu) Unknown - likely pathogenic (dominant) g.141566319T>G g.140556220T>G - - chr8_006019 ACMG PS2_mod, PS4_supp, PM1_mod, PM2_supp, PM5_supp, PP2_supp Journal: Tibbe 2026 - - De novo - 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat17 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+?/. - c.1093A>G r.(?) p.(Ile365Val) Unknown - likely pathogenic (dominant) g.141566319T>C g.140556220T>C - - EIF2C2_000039 ACMG PS2_mod, PS4_supp, PM1_mod, PM2_supp, PM5_supp, PP2_supp Journal: Tibbe 2026 - - De novo - 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat16 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+?/. - c.1094T>A r.(?) p.(Ile365Asn) Unknown - likely pathogenic (dominant) g.141566318A>T g.140556219A>T - - chr8_006020 ACMG PS2_mod, PM1_mod, PM2_supp, PM5_supp, PP2_supp, PP3_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat18 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+/. - c.1099G>C r.(?) p.(Ala367Pro) Unknown - pathogenic (dominant) g.141566313C>G g.140556214C>G - - EIF2C2_000018 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat14 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1115C>A r.(?) p.(Ala372Glu) Unknown - likely pathogenic (dominant) g.141566297G>T g.140556198G>T - - chr8_006021 ACMG PS2_mod, PM1_mod, PM2_supp, PP2_supp, PP3_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat19 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+?/. - c.1244C>T r.(?) p.(Pro415Leu) Unknown - likely pathogenic (dominant) g.141566020G>A g.140555921G>A - - chr8_006022 ACMG PS2_mod, PM1_mod, PM2_supp, PP2_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat20 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Davor Lessel
-?/. - c.1269+4C>T r.spl? p.? Unknown - likely benign g.141565991G>A g.140555892G>A AGO2(NM_001164623.1):c.1269+4C>T (p.?), AGO2(NM_012154.5):c.1269+4C>T - EIF2C2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1269+4C>T r.spl? p.? Unknown - likely benign g.141565991G>A - AGO2(NM_001164623.1):c.1269+4C>T (p.?), AGO2(NM_012154.5):c.1269+4C>T - EIF2C2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1303T>C r.(?) p.(Trp435Arg) Unknown - likely pathogenic (dominant) g.141561502A>G g.140551403A>G - - chr8_006023 ACMG PS2_mod, PM1_mod, PM2_supp, PP2_supp, PP3_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat21 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Davor Lessel
-?/. - c.1500C>T r.(?) p.(Ser500=) Unknown - likely benign g.141559301G>A g.140549202G>A AGO2(NM_012154.5):c.1500C>T (p.S500=) - EIF2C2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1517G>A r.(?) p.(Arg506Gln) Unknown - likely pathogenic (dominant) g.141559284C>T g.140549185C>T - - chr8_006024 ACMG PS2_mod, PS3_supp, PM1_mod, PM2_supp, PP2_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat22 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+?/. - c.1591G>C r.(?) p.(Glu531Gln) Unknown - likely pathogenic (dominant) g.141557724C>G g.140547625C>G - - chr8_006025 ACMG PS2_mod, PS3_supp, PM1_mod, PM2_supp, PP2_supp, PP3_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat23 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Davor Lessel
?/. - c.1597A>G r.(?) p.(Lys533Glu) Unknown - VUS g.141557718T>C - - - EIF2C2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1631C>T r.(?) p.(Thr544Met) Unknown - likely pathogenic (dominant) g.141557684G>A g.140547585G>A - - chr8_006026 ACMG PM1_mod, PM2_supp, PP2_supp, PP3_mod Journal: Tibbe 2026 - - Germline/De novo (untested) - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat24 Journal: Tibbe 2026 patient M - - - - - - - 1 Davor Lessel
+/. - c.1717G>A r.(?) p.(Gly573Ser) Unknown - pathogenic (dominant) g.141557598C>T g.140547499C>T - - EIF2C2_000017 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat15 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Europe - - - - 1 Johan den Dunnen
-?/. - c.1749-4G>A r.spl? p.? Unknown - likely benign g.141554406C>T g.140544307C>T AGO2(NM_012154.5):c.1749-4G>A - EIF2C2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1805C>A r.(?) p.(Pro602His) Unknown - likely pathogenic (dominant) g.141554346G>T g.140544247G>T - - chr8_006027 ACMG PS2_mod, PS4_supp, PM1_mod, PM2_supp, PP2_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat25 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Davor Lessel
+?/. - c.1805C>G r.(?) p.(Pro602Arg) Unknown - likely pathogenic (dominant) g.141554346G>C g.140544247G>C - - chr8_006028 ACMG PS2_mod, PS4_supp, PM1_mod, PM2_supp, PP2_supp Journal: Tibbe 2026 - - De novo - 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat26 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Davor Lessel
+?/. - c.1805C>G r.(?) p.(Pro602Arg) Unknown - likely pathogenic (dominant) g.141554346G>C g.140544247G>C - - chr8_006028 ACMG PS2_mod, PS4_supp, PM1_mod, PM2_supp, PP2_supp Journal: Tibbe 2026 - - De novo - 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat27 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+?/. - c.1810G>A r.(?) p.(Gly604Arg) Unknown - likely pathogenic g.141554341C>T g.140544242C>T - - EIF2C2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1810G>A r.(?) p.(Gly604Arg) Unknown - VUS g.141554341C>T g.140544242C>T - - EIF2C2_000003 - PubMed: Zanoni 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat12-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - 1 Johan den Dunnen
+?/. - c.1810G>A r.(?) p.(Gly604Arg) Unknown - likely pathogenic (dominant) g.141554341C>T g.140544242C>T - - EIF2C2_000003 ACMG PS2_mod, PS3_supp, PS4_supp, PM1_mod, PM2_supp, PP2_supp, PP3_mod Journal: Tibbe 2026 - - De novo - 4/45 individuals - - - DNA SEQ-NG - - LESKRES Pat28 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+?/. - c.1810G>A r.(?) p.(Gly604Arg) Maternal (confirmed) - likely pathogenic (dominant) g.141554341C>T g.140544242C>T - - EIF2C2_000003 ACMG PS3_supp, PS4_supp, PM1_mod, PM2_supp, PP2_supp, PP3_mod;inherited from mosaic mother Journal: Tibbe 2026 - - Germline - 4/45 individuals - - - DNA SEQ-NG - - LESKRES Pat29 Journal: Tibbe 2026 2-generation family, 2 affected sibs, mosaic mother M - - - - - - - 2 Davor Lessel
+?/. - c.1810G>A r.(?) p.(Gly604Arg) Maternal (confirmed) - likely pathogenic (dominant) g.141554341C>T g.140544242C>T - - EIF2C2_000003 ACMG PS3_supp, PS4_supp, PM1_mod, PM2_supp, PP2_supp, PP3_mod; inherited from mosaic mother Journal: Tibbe 2026 - - Germline - 4/45 individuals - - - DNA SEQ-NG - - LESKRES Pat30 Journal: Tibbe 2026 sib F - - - - - - - 1 Davor Lessel
+?/. - c.1810G>A r.(?) p.(Gly604Arg) Unknown - likely pathogenic (dominant) g.141554341C>T g.140544242C>T - - EIF2C2_000003 ACMG PS3_supp, PS4_supp, PM1_mod, PM2_supp, PP2_supp, PP3_mod Journal: Tibbe 2026 - - Germline/De novo (untested) - 4/45 individuals - - - DNA SEQ-NG - - LESKRES Pat31 Journal: Tibbe 2026 patient M - - - - - - - 1 Davor Lessel
-?/. - c.1839+10A>G r.(=) p.(=) Unknown - likely benign g.141554302T>C - AGO2(NM_012154.5):c.1839+10A>G - EIF2C2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1855G>A r.(?) p.(Asp619Asn) Unknown - likely pathogenic (dominant) g.141551442C>T g.140541343C>T - - chr8_006029 ACMG PS2_mod, PS3_mod, PM1_mod, PM2_supp, PP2_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat32 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Davor Lessel
?/. - c.1992C>G r.(?) p.(Ile664Met) Unknown - VUS g.141551305G>C - AGO2(NM_012154.3):c.1992C>G (p.(Ile664Met)) - EIF2C2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2059A>C r.(?) p.(Ile687Leu) Unknown - VUS g.141549529T>G - AGO2(NM_012154.5):c.2059A>C (p.I687L) - EIF2C2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2140C>T r.(?) p.(Arg714Trp) Unknown - likely pathogenic (dominant) g.141549448G>A g.140539349G>A - - chr8_006030 ACMG PS2_mod, PS3_mod, PS4_supp, PM1_mod, PM2_supp, PP2_supp, PP3_mod Journal: Tibbe 2026 - - De novo - 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat33 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+?/. - c.2140C>T r.(?) p.(Arg714Trp) Unknown - likely pathogenic (dominant) g.141549448G>A g.140539349G>A - - chr8_006030 ACMG PS2_mod, PS3_mod, PS4_supp, PM1_mod, PM2_supp, PP2_supp, PP3_mod Journal: Tibbe 2026 - - De novo - 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat34 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Davor Lessel
+/. - c.2149T>C r.(?) p.(Cys717Arg) Maternal (confirmed) - pathogenic (dominant) g.141549439A>G g.140539340A>G - - EIF2C2_000038 - PubMed: Yang 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID FamPatIV4 PubMed: Yang 2026 4-generation family, 4 affected (3F, M) F - China - - - - - 4 Johan den Dunnen
+/. - c.2149T>C r.(?) p.(Cys717Arg) Maternal (confirmed) - pathogenic (dominant) g.141549439A>G g.140539340A>G - - EIF2C2_000038 - PubMed: Yang 2026 - - Germline yes - - - - DNA SEQ-NG - WES ID FamPatIII1 PubMed: Yang 2026 mother F - China - - - - - 1 Johan den Dunnen
+/. - c.2149T>C r.(?) p.(Cys717Arg) Maternal (confirmed) - pathogenic (dominant) g.141549439A>G g.140539340A>G - - EIF2C2_000038 - PubMed: Yang 2026 - - Germline yes - - - - DNA SEQ-NG - WES ID FamPatIII3 PubMed: Yang 2026 maternal uncle M - China - - - - - 1 Johan den Dunnen
+/. - c.2149T>C r.(?) p.(Cys717Arg) Unknown - pathogenic (dominant) g.141549439A>G g.140539340A>G - - EIF2C2_000038 - PubMed: Yang 2026 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - WES ID FamPatII4 PubMed: Yang 2026 maternal grandmother F - China - - - - - 1 Johan den Dunnen
+?/. - c.2185A>C r.(?) p.(Asn729His) Unknown - likely pathogenic (dominant) g.141545653T>G g.140535554T>G - - chr8_006031 ACMG PS2_mod, PS3_supp, PM1_mod, PM2_supp, PP2_supp Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat35 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
?/. - c.2197G>C r.(?) p.(Gly733Arg) Unknown - VUS g.141545641C>G g.140535542C>G - - EIF2C2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2252G>A r.(?) p.(Cys751Tyr) Unknown - pathogenic (dominant) g.141545586C>T g.140535487C>T - - EIF2C2_000016 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat17 PubMed: Lessel 2020 2-generation family, affected twins, unaffected heterozygous carrier parents F - - India - - - - 2 Johan den Dunnen
+/. - c.2252G>A r.(?) p.(Cys751Tyr) Unknown - pathogenic (dominant) g.141545586C>T g.140535487C>T - - EIF2C2_000016 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat18 PubMed: Lessel 2020 twin F - - India - - - - 1 Johan den Dunnen
+/. - c.2252G>A r.(?) p.(Cys751Tyr) Unknown - pathogenic (dominant) g.141545586C>T g.140535487C>T - - EIF2C2_000016 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat19 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.2273G>A r.(?) p.(Gly758Glu) Unknown - likely pathogenic (dominant) g.141542713C>T g.140532614C>T - - chr8_006032 ACMG PS2_mod, PM1_mod, PM2_supp, PP2_supp, PP3_mod Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat36 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Davor Lessel
+/. - c.2280C>G r.(?) p.(Ser760Arg) Unknown - pathogenic (dominant) g.141542706G>C g.140532607G>C - - EIF2C2_000015 - PubMed: Lessel 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat20 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2281A>T r.(?) p.(Arg761Trp) Unknown - VUS g.141542705T>A g.140532606T>A - - chr8_006033 ACMG PM1_mod, PM2_supp, PP2_supp, PP3_supp Journal: Tibbe 2026 - - Germline/De novo (untested) - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat37 Journal: Tibbe 2026 patient M - - - - - - - 1 Davor Lessel
?/. - c.2288C>T r.(?) p.(Ser763Leu) Unknown - VUS g.141542698G>A - - - EIF2C2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2318G>A r.(?) p.(Arg773His) Unknown - likely benign g.141542668C>T - AGO2(NM_012154.5):c.2318G>A (p.R773H) - EIF2C2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2348C>T r.(?) p.(Thr783Ile) Paternal (confirmed) - likely pathogenic (dominant) g.141542638G>A g.140532539G>A - - chr8_006034 ACMG PM1_mod, PM2_supp, PP1_supp, PP2_supp, PP3_supp Journal: Tibbe 2026 - - Germline - 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat38 Journal: Tibbe 2026 2-generation family, affected son/father M - - - - - - - 2 Davor Lessel
+?/. - c.2348C>T r.(?) p.(Thr783Ile) Unknown - likely pathogenic (dominant) g.141542638G>A g.140532539G>A - - chr8_006034 ACMG PM1_mod, PM2_supp, PP1_supp, PP2_supp, PP3_supp Journal: Tibbe 2026 - - Germline/De novo (untested) - 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat39 Journal: Tibbe 2026 father M - - - - - - - 1 Davor Lessel
+?/. - c.2375G>A r.(?) p.(Arg792His) Unknown - likely pathogenic g.141542611C>T - AGO2(NM_012154.5):c.2375G>A (p.R792H) - EIF2C2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2375G>A r.(?) p.(Arg792His) Maternal (confirmed) - likely pathogenic (dominant) g.141542611C>T g.140532512C>T - - EIF2C2_000026 ACMG PS4_supp, PM1_mod, PM2_supp, PP1_supp, PP2_supp, PP3_mod Journal: Tibbe 2026 - - Germline yes 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat40 Journal: Tibbe 2026 2-generation family, 2 affected (child/mother) F - - - - - - - 2 Davor Lessel
+?/. - c.2375G>A r.(?) p.(Arg792His) Unknown - likely pathogenic (dominant) g.141542611C>T g.140532512C>T - - EIF2C2_000026 ACMG PS2_mod, PS4_supp, PM1_mod, PM2_supp, PP2_supp, PP3_mod Journal: Tibbe 2026 - - De novo - 2/45 individuals - - - DNA SEQ-NG - - LESKRES Pat41 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+?/. - c.2383C>T r.(?) p.(Arg795Cys) Unknown - likely pathogenic (dominant) g.141542603G>A g.140532504G>A - - chr8_006035 ACMG PS2_mod, PM1_mod, PM2_supp, PP2_supp, PP3_mod Journal: Tibbe 2026 - - De novo - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat42 Journal: Tibbe 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Davor Lessel
+?/. - c.2402C>T r.(?) p.(Ala801Val) Paternal (confirmed) - likely pathogenic (dominant) g.141542584G>A g.140532485G>A - - chr8_006036 ACMG PM1_mod, PM2_supp, PP2_supp, PP3_mod, PP4_mod; inherited from mosaic father Journal: Tibbe 2026 - - Germline - 1/45 individuals - - - DNA SEQ-NG - - LESKRES Pat43 Journal: Tibbe 2026 2-generation family, 1 affected, mosaic father M - - - - - - - 1 Davor Lessel
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