Full data view for gene SETD1A

Information The variants shown are described using the NM_014712.1 transcript reference sequence.

184 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     
./. - c.-3786150_*893340dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-2869300_*3604656del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
?/. - c.-4539T>A r.(?) p.(=) Unknown - VUS g.30964762T>A g.30953441T>A ORAI3(NM_152288.2):c.485T>A (p.(Phe162Tyr)) - FBXL19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4339C>T r.(?) p.(=) Unknown - likely benign g.30964962C>T g.30953641C>T ORAI3(NM_152288.2):c.685C>T (p.(Arg229Trp)) - ORAI3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16+10G>C r.(=) p.(=) Unknown - likely benign g.30969295G>C g.30957974G>C SETD1A(NM_014712.2):c.-16+10G>C - ORAI3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15-1G>A r.spl? p.? Unknown - VUS g.30970037G>A - SETD1A(NM_014712.3):c.-15-1G>A - ORAI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-15T>C r.(?) p.(=) Unknown - likely benign g.30970038T>C - SETD1A(NM_014712.3):c.-15T>C - ORAI3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35C>T r.(?) p.(Ala12Val) Unknown - VUS g.30970087C>T - SETD1A(NM_014712.1):c.35C>T (p.(Ala12Val)) - ORAI3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.109C>T r.(?) p.(Gln37Ter) Unknown - pathogenic (dominant) g.30970161C>T g.30958840C>T - - SETD1A_000087 - PubMed: Kummeling 2021, Journal: Kummeling 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.129_132dup r.(?) p.(Val45TrpfsTer37) Unknown - pathogenic (dominant) g.30970181_30970184dup g.30958860_30958863dup 30970178delTinsTGATG - SETD1A_000088 - PubMed: Singh 2016, Journal: Singh 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Singh 2016, Journal: Singh 2016 - - - Finland - - - - - 1 Johan den Dunnen
+?/. - c.150+1G>T r.spl? p.? Unknown - likely pathogenic g.30970203G>T - SETD1A(NM_014712.3):c.150+1G>T - ORAI3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.150+1G>T r.spl? p.? Unknown - pathogenic g.30970203G>T - SETD1A(NM_014712.3):c.150+1G>T - ORAI3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.151-2A>G r.spl? p.? Unknown - likely pathogenic g.30970410A>G - SETD1A(NM_014712.3):c.151-2A>G - ORAI3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.153C>G r.(?) p.(Asp51Glu) Paternal (confirmed) ACMG VUS g.30970414C>G g.30959093C>G - - SETD1A_000027 - PubMed: Faundes 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 270635 PubMed: Faundes 2018 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.234C>T r.(?) p.(Val78=) Unknown - likely benign g.30970495C>T - SETD1A(NM_014712.2):c.234C>T (p.V78=) - ORAI3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.336del r.(?) p.(Asp112Glufs*12) Maternal (confirmed) ACMG likely pathogenic g.30972677del g.30961356del - - SETD1A_000072 mother is apparently unaffected; rare de novo and inherited LoF variants affecting the SETD1A gene are documented as a molecular cause of autosomal dominant "neurodevelopmental disorder with speech impairment and dysmorphic facies" (NEDSID, OMIM:619056) and may be a risk factor for neuropsychiatric disorders - ClinVar-3378411 - Germline yes - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.361G>T r.(?) p.(Glu121*) Unknown - pathogenic g.30972702G>T - SETD1A(NM_014712.3):c.361G>T (p.E121*) - SETD1A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.434C>G r.(?) p.(Thr145Ser) Unknown - VUS g.30972775C>G g.30961454C>G - - SETD1A_000069 - PubMed: Kimura 2016 - - Germline - 1/390 cases SCZ, 1/1783 cases SCZ, 2/2213 controls - - - DNA SEQ - - autism - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - 4 Johan den Dunnen
+/. - c.518-2A>G r.spl p.? Unknown - pathogenic (dominant) g.30974752A>G g.30963431A>G 30974752A>G - SETD1A_000089 - PubMed: Singh 2016, Journal: Singh 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Singh 2016, Journal: Singh 2016 - - - Finland - - - - - 1 Johan den Dunnen
?/. - c.560C>T r.(?) p.(Ser187Phe) Unknown - VUS g.30974796C>T - SETD1A(NM_014712.3):c.560C>T (p.S187F) - SETD1A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.578_579del r.(?) p.(Val193Alafs*9) Unknown - likely pathogenic g.30974814_30974815del - SETD1A(NM_014712.3):c.578_579delTG (p.V193Afs*9) - SETD1A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621G>A r.(?) p.(=) Unknown - likely benign g.30974857G>A - SETD1A(NM_014712.3):c.621G>A (p.(Ser207=)) - SETD1A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.638C>T r.(?) p.(Thr213Met) Unknown - VUS g.30974874C>T g.30963553C>T SETD1A(NM_014712.1):c.638C>T (p.(Thr213Met)) - SETD1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.640-1G>A r.spl? p.? Unknown - likely pathogenic g.30975414G>A - - - SETD1A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.718G>A r.(?) p.(Gly240Ser) Unknown - likely benign g.30975493G>A - SETD1A(NM_014712.3):c.718G>A (p.(Gly240Ser)) - SETD1A_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.758G>A r.(?) p.(Arg253Gln) Unknown - likely benign g.30975533G>A - SETD1A(NM_014712.1):c.758G>A (p.(Arg253Gln)) - SETD1A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.806A>G r.(?) p.(Gln269Arg) Unknown - likely pathogenic (dominant) g.30975581A>G g.30964260A>G - - SETD1A_000084 variant analysed functionally PubMed: Yu 2019, Journal: Yu 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - seizures Pat2 PubMed: Yu 2019, Journal: Yu 2019 2-generation family, 1 affected, unaffected non-carrier parents F no China - - - - - 1 Johan den Dunnen
?/. - c.818A>G r.(?) p.(Tyr273Cys) Unknown - VUS g.30975593A>G - SETD1A(NM_014712.3):c.818A>G (p.Y273C) - SETD1A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.821C>G r.(?) p.(Thr274Arg) Unknown - likely benign g.30975596C>G - SETD1A(NM_014712.1):c.821C>G (p.(Thr274Arg)) - SETD1A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.827G>A r.(?) p.(Arg276Gln) Unknown - VUS g.30975602G>A - SETD1A(NM_014712.3):c.827G>A (p.R276Q) - SETD1A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.838C>T r.(?) p.(Pro280Ser) Unknown - VUS g.30975613C>T - - - SETD1A_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.884_886del r.(?) p.(Ser295del) Unknown - VUS g.30975947_30975949del g.30964626_30964628del - - SETD1A_000070 - PubMed: Kimura 2016 - - Germline - 1/192 cases ASD, 2/390 cases SCZ - - - DNA SEQ - - SCZD - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - 3 Johan den Dunnen
?/. - c.911G>C r.(?) p.(Ser304Thr) Unknown - VUS g.30975974G>C - SETD1A(NM_014712.3):c.911G>C (p.(Ser304Thr)) - SETD1A_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1014dup r.(?) p.(Ala339ArgfsTer23) Unknown - pathogenic (dominant) g.30976077dup g.30964756dup - - SETD1A_000090 - PubMed: Kummeling 2021, Journal: Kummeling 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1026_1028del r.(?) p.(Ser343del) Unknown - VUS g.30976089_30976091del - SETD1A(NM_014712.2):c.1026_1028delCTC (p.S343del) - SETD1A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1037C>T r.(?) p.(Ser346Leu) Unknown - VUS g.30976100C>T - SETD1A(NM_014712.1):c.1037C>T (p.(Ser346Leu)) - SETD1A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038G>A r.(?) p.(Ser346=) Unknown - likely benign g.30976101G>A - SETD1A(NM_014712.2):c.1038G>A (p.S346=) - SETD1A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1050_1067dup r.(?) p.(Ser352_Ser357dup) Unknown - VUS g.30976113_30976130dup - SETD1A(NM_014712.3):c.1050_1067dupATCCTCTTCCTCCTCGTC (p.S352_S357dup) - SETD1A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1079G>A r.(?) p.(Arg360His) Unknown - VUS g.30976142G>A - SETD1A(NM_014712.3):c.1079G>A (p.R360H) - SETD1A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1144_1147del r.(?) p.(Tyr382HisfsTer114) Unknown - pathogenic (dominant) g.30976207_30976210del g.30964886_30964889del - - SETD1A_000091 - PubMed: Kummeling 2021, Journal: Kummeling 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.1157G>A r.(?) p.(Arg386Gln) Unknown - likely benign g.30976220G>A g.30964899G>A SETD1A(NM_014712.3):c.1157G>A (p.(Arg386Gln)) - SETD1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1173A>C r.(?) p.(Glu391Asp) Unknown - likely benign g.30976236A>C - SETD1A(NM_014712.3):c.1173A>C (p.(Glu391Asp)) - SETD1A_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1272del r.(?) p.(Tyr425ThrfsTer72) Unknown - likely pathogenic (dominant) g.30976335del g.30965014del - - SETD1A_000086 - PubMed: Takata 2014, Journal: Takata 2014 - - De novo - - - - - DNA SEQ-NG - WES SCZD Pat5 PubMed: Takata 2014, Journal: Takata 2014 2-generation family, 1 affected, unaffected non-carrier parents - - United States African-American - - - - 1 Johan den Dunnen
+/. - c.1363G>T r.(?) p.(Glu455Ter) Unknown - pathogenic (dominant) g.30976426G>T g.30965105G>T - - SETD1A_000092 - PubMed: Kummeling 2021, Journal: Kummeling 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.1364_1366del r.(?) p.(Glu455del) Unknown - likely benign g.30976427_30976429del - SETD1A(NM_014712.3):c.1364_1366del (p.(Glu455del)) - SETD1A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1381dup r.(?) p.(Arg461ProfsTer18) Unknown - pathogenic g.30976444dup - SETD1A(NM_014712.3):c.1381dup (p.(Arg461Profs*18)), SETD1A(NM_014712.3):c.1381dupC (p.R461Pfs*18) - SETD1A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1381dup r.(?) p.(Arg461ProfsTer18) Unknown - pathogenic g.30976444dup - SETD1A(NM_014712.3):c.1381dup (p.(Arg461Profs*18)), SETD1A(NM_014712.3):c.1381dupC (p.R461Pfs*18) - SETD1A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1382G>C r.(?) p.(Arg461Pro) Unknown - likely benign g.30976445G>C g.30965124G>C SETD1A(NM_014712.1):c.1382G>C (p.(Arg461Pro)) - SETD1A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1387G>C r.(?) p.(Ala463Pro) Unknown - likely benign g.30976450G>C g.30965129G>C SETD1A(NM_014712.1):c.1387G>C (p.(Ala463Pro)) - SETD1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1418C>T r.(?) p.(Pro473Leu) Unknown - likely benign g.30976481C>T - SETD1A(NM_014712.1):c.1418C>T (p.(Pro473Leu)) - SETD1A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1426A>G r.(?) p.(Thr476Ala) Unknown - VUS g.30976489A>G g.30965168A>G SETD1A(NM_014712.3):c.1426A>G (p.T476A) - SETD1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1472G>A r.(?) p.(Arg491His) Unknown - VUS g.30976535G>A - SETD1A(NM_014712.1):c.1472G>A (p.(Arg491His)) - SETD1A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1495C>T r.(?) p.(Gln499Ter) Unknown - pathogenic (dominant) g.30976558C>T g.30965237C>T - - SETD1A_000093 - PubMed: Kummeling 2021, Journal: Kummeling 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - 4y4m - - - 1 Johan den Dunnen
+/. - c.1602_1603del r.(?) p.(Gly535AlafsTer12) Unknown - pathogenic (dominant) g.30976665_30976666del g.30965344_30965345del - - SETD1A_000008 - PubMed: Kummeling 2021, Journal: Kummeling 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1625C>T r.(?) p.(Pro542Leu) Unknown - VUS g.30976688C>T - SETD1A(NM_014712.3):c.1625C>T (p.P542L) - SETD1A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1652_1656dup r.(?) p.(Pro553Trpfs*110) Unknown - pathogenic g.30976715_30976719dup g.30965394_30965398dup - - SETD1A_000020 - PubMed: Eising 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS SPCH Pat04/Pat6 PubMed: Eising 2018, PubMed: Worthey 2013 analysis 19 individuals with childhood apraxia of speech F - - - - - - - 1 Johan den Dunnen
?/. - c.1669G>C r.(?) p.(Gly557Arg) Unknown - VUS g.30976732G>C - SETD1A(NM_014712.3):c.1669G>C (p.G557R) - SETD1A_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1681G>C r.(?) p.(Ala561Pro) Unknown - likely benign g.30976744G>C - SETD1A(NM_014712.3):c.1681G>C (p.(Ala561Pro)) - SETD1A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1693T>A r.(?) p.(Ser565Thr) Unknown - likely benign g.30976756T>A - SETD1A(NM_014712.1):c.1693T>A (p.(Ser565Thr)) - SETD1A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1787C>T r.(?) p.(Pro596Leu) Unknown - likely benign g.30976989C>T - SETD1A(NM_014712.3):c.1787C>T (p.P596L) - SETD1A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1931_1932del r.(?) p.(Pro644ArgfsTer14) Unknown - likely pathogenic g.30977133_30977134del g.30965812_30965813del SETD1A(NM_014712.2):c.1931_1932delCT (p.P644Rfs*14) - SETD1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1938C>G r.(?) p.(Tyr646Ter) Unknown - pathogenic (dominant) g.30977140C>G g.30965819C>G 30977140C>G - SETD1A_000094 - PubMed: Singh 2016, Journal: Singh 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Singh 2016, Journal: Singh 2016 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2014C>T r.(?) p.(Gln672Ter) Unknown - pathogenic g.30977216C>T g.30965895C>T SETD1A(NM_014712.3):c.2014C>T (p.Q672*) - SETD1A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2070C>T r.(?) p.(Leu690=) Unknown - likely benign g.30977272C>T - SETD1A(NM_014712.2):c.2070C>T (p.L690=) - SETD1A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2119C>T r.(?) p.(Pro707Ser) Unknown - likely benign g.30977321C>T - SETD1A(NM_014712.3):c.2119C>T (p.P707S) - SETD1A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2121dup r.(?) p.(Gly708ArgfsTer117) Maternal (confirmed) - pathogenic (dominant) g.30977323dup g.30966002dup 30977316delGinsGC - SETD1A_000095 - PubMed: Singh 2016, Journal: Singh 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Singh 2016, Journal: Singh 2016 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.2162C>T r.(?) p.(Pro721Leu) Unknown - likely benign g.30977364C>T - SETD1A(NM_014712.3):c.2162C>T (p.(Pro721Leu)) - SETD1A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2170G>A r.(?) p.(Ala724Thr) Unknown - likely benign g.30977372G>A - SETD1A(NM_014712.2):c.2170G>A (p.A724T) - SETD1A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2204_2205del r.(?) p.(Gln735ArgfsTer89) Unknown - likely pathogenic g.30977406_30977407del - - - SETD1A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2204_2205del r.(?) p.(Gln735ArgfsTer89) Unknown - pathogenic (dominant) g.30977406_30977407del g.30966085_30966086del 30977406-30977407delAG - SETD1A_000025 - PubMed: Singh 2016, Journal: Singh 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Singh 2016, Journal: Singh 2016 - - - Sweden - - - - - 1 Johan den Dunnen
+/. - c.2209C>T r.(?) p.(Gln737Ter) Unknown - pathogenic (dominant) g.30977411C>T g.30966090C>T 30977411C>T - SETD1A_000096 - PubMed: Singh 2016, Journal: Singh 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Singh 2016, Journal: Singh 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.2211_2212insC r.(?) p.(Glu738ArgfsTer87) Unknown - pathogenic (dominant) g.30977413_30977414insC g.30966092_30966093insC 30977413delGinsGC - SETD1A_000097 - PubMed: Singh 2016, Journal: Singh 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat13 PubMed: Singh 2016, Journal: Singh 2016 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.2268C>T r.(?) p.(=) Unknown - likely benign g.30977470C>T - SETD1A(NM_014712.3):c.2268C>T (p.(Ala756=)) - SETD1A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2269G>A r.(?) p.(Glu757Lys) Unknown - VUS g.30977471G>A - SETD1A(NM_014712.1):c.2269G>A (p.(Glu757Lys)) - SETD1A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2289dup r.(?) p.(Val764SerfsTer61) Unknown - pathogenic (dominant) g.30977491dup g.30966170dup - - SETD1A_000098 - PubMed: Kummeling 2021, Journal: Kummeling 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.2294C>T r.(?) p.(Ser765Leu) Unknown - likely benign g.30977496C>T - SETD1A(NM_014712.3):c.2294C>T (p.(Ser765Leu)) - SETD1A_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2386G>T r.(?) p.(Ala796Ser) Unknown - VUS g.30977588G>T - - - SETD1A_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2422C>T r.(?) p.(Arg808Ter) Unknown - VUS g.30977624C>T g.30966303C>T - - SETD1A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2494_2496del r.(?) p.(Glu832del) Unknown - VUS g.30977696_30977698del - SETD1A(NM_014712.3):c.2494_2496delGAG (p.E832del) - SETD1A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2513A>G r.(?) p.(Gln838Arg) Unknown ACMG likely pathogenic g.30978212A>G g.30966891A>G 2513A>G - SETD1A_000028 - PubMed: Faundes 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 272178 PubMed: Faundes 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.2587C>T r.(?) p.(Leu863Phe) Unknown ACMG likely pathogenic g.30978286C>T g.30966965C>T 2587C>T - SETD1A_000029 - PubMed: Faundes 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 276932 PubMed: Faundes 2018 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.2625C>T r.(?) p.(Ile875=) Unknown - likely benign g.30978324C>T - SETD1A(NM_014712.2):c.2625C>T (p.I875=) - SETD1A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2682+8_2682+9del r.(=) p.(=) Unknown - likely benign g.30978389_30978390del g.30967068_30967069del SETD1A(NM_014712.2):c.2682+8_2682+9delGA - SETD1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2714A>G r.(?) p.(Glu905Gly) Unknown - VUS g.30978853A>G - SETD1A(NM_014712.1):c.2714A>G (p.(Glu905Gly)), SETD1A(NM_014712.3):c.2714A>G (p.E905G) - SETD1A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2714A>G r.(?) p.(Glu905Gly) Unknown - likely benign g.30978853A>G - SETD1A(NM_014712.1):c.2714A>G (p.(Glu905Gly)), SETD1A(NM_014712.3):c.2714A>G (p.E905G) - SETD1A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2717C>T r.(?) p.(Ala906Val) Unknown - VUS g.30978856C>T - SETD1A(NM_014712.3):c.2717C>T (p.A906V) - SETD1A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2725G>T r.(?) p.(Glu909Ter) Unknown - pathogenic (dominant) g.30978864G>T g.30967543G>T - - SETD1A_000099 - PubMed: Kummeling 2021, Journal: Kummeling 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2737C>T r.(?) p.(Arg913Cys) Paternal (confirmed) - likely pathogenic (dominant) g.30978876C>T g.30967555C>T - - SETD1A_000083 variant analysed functionally PubMed: Yu 2019, Journal: Yu 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - seizures FamPatIV1 PubMed: Yu 2019, Journal: Yu 2019 4-generation family, 4 affected (daughter, father, paternal grandfather, paternal great-grandmother) F no China - - - - - 4 Johan den Dunnen
+/. - c.2737C>T r.(?) p.(Arg913Cys) Paternal (confirmed) - likely pathogenic (dominant) g.30978876C>T g.30967555C>T - - SETD1A_000083 variant analysed functionally PubMed: Yu 2019, Journal: Yu 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - seizures FamPayIII1 PubMed: Yu 2019, Journal: Yu 2019 father M no China - - - - - 1 Johan den Dunnen
+/. - c.2737C>T r.(?) p.(Arg913Cys) Maternal (confirmed) - likely pathogenic (dominant) g.30978876C>T g.30967555C>T - - SETD1A_000083 variant analysed functionally PubMed: Yu 2019, Journal: Yu 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - seizures FamPatII1 PubMed: Yu 2019, Journal: Yu 2019 grandfather M no China - - - - - 1 Johan den Dunnen
+/. - c.2737C>T r.(?) p.(Arg913Cys) Unknown - likely pathogenic (dominant) g.30978876C>T g.30967555C>T - - SETD1A_000083 variant analysed functionally PubMed: Yu 2019, Journal: Yu 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ, SEQ-NG - - seizures FamPatI2 PubMed: Yu 2019, Journal: Yu 2019 paternal greatgrandmother F no China - - - - - 1 Johan den Dunnen
?/. - c.2738G>A r.(?) p.(Arg913His) Unknown - VUS g.30978877G>A - SETD1A(NM_014712.1):c.2738G>A (p.(Arg913His)) - SETD1A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2807G>A r.(?) p.(Arg936His) Unknown - likely benign g.30980662G>A - SETD1A(NM_014712.1):c.2807G>A (p.(Arg936His)) - SETD1A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2858G>A r.(?) p.(Gly953Asp) Unknown - VUS g.30980713G>A - SETD1A(NM_014712.3):c.2858G>A (p.(Gly953Asp)) - SETD1A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2928+10C>T r.(=) p.(=) Unknown - likely benign g.30980793C>T - SETD1A(NM_014712.3):c.2928+10C>T - SETD1A_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2955_2963del r.(?) p.(Glu986_Glu988del) Unknown - VUS g.30980949_30980957del g.30969628_30969636del - - SETD1A_000071 - PubMed: Kimura 2016 - - Germline - 1/390 cases SCZ - - - DNA SEQ - - SCZD - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - 1 Johan den Dunnen
+?/. - c.2968C>T r.(?) p.(Arg990Ter) Unknown - likely pathogenic g.30980962C>T g.30969641C>T - - SETD1A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2968C>T r.(?) p.(Arg990Ter) Unknown - pathogenic (dominant) g.30980962C>T g.30969641C>T - - SETD1A_000009 - PubMed: Kummeling 2021, Journal: Kummeling 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Kummeling 2021, Journal: Kummeling 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2968C>T r.(?) p.(Arg990Ter) Unknown - pathogenic (dominant) g.30980962C>T g.30969641C>T 30980962C>T - SETD1A_000009 - PubMed: Singh 2016, Journal: Singh 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Singh 2016, Journal: Singh 2016 - - - Sweden - - - - - 1 Johan den Dunnen
+?/. - c.3003dup r.(?) p.(Glu1002Argfs*21) Unknown - likely pathogenic g.30980997dup - SETD1A(NM_014712.3):c.3003dupA (p.E1002Rfs*21) - SETD1A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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