Full data view for gene SETBP1

Information The variants shown are described using the NM_015559.2 transcript reference sequence.

235 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.(?_2938)_*4812{0} r.? p.? Unknown - pathogenic (dominant) g.(42459002_42532243)_(42904307_43015002)del - arr 18q12.3(40,786,241–41,158,305)x1 - SETBP1_000107 372kb deletion PubMed: Marseglia 2012 - - De novo - - - - - DNA arrayCGH - conventional chromosomal analysis, Agilent Human Genome CGH 44K Microarray ? patient PubMed: Marseglia 2012 - M - Italy - - - - - 1 Bregje van Bon
+/. _1_6_ c.-296_*4812{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_42028936)_(43015201_?)del - hg18 18q12.3(40282934-41269199)x1 - SETBP1_000103 986kb deletion PubMed: Filges 2020 - - De novo - - - - - DNA arrayCGH - - ? Pat1 PubMed: Filges 2020 - M - United Kingdom (Great Britain) - - - - - 1 Bregje van Bon
+/. _1_6_ c.-296_*4812{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_41979805)_(42834226_?)del - hg18 18q12.3(40233803-41088224)x1 - SETBP1_000103 850kb deletion PubMed: Filges 2020 - - De novo - - - - - DNA arrayCGH - - ? Pat2 PubMed: Filges 2020 - M - Japan - - - - - 1 Johan den Dunnen
?/. - c.-1545G>A r.(?) p.(=) Unknown - VUS g.42259614G>A - SETBP1(NM_015559.3):c.-1545G>A - SETBP1_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-811C>T r.(?) p.(=) Unknown - benign g.42260348C>T g.44680383C>T - - SETBP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-315dup r.(?) p.(=) Unknown - likely benign g.42260844dup g.44680879dup - - SETBP1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_6_ c.-296_*4812{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_34576844)_(43015201_?)del - arr 18q12.2q12.3(34576844_43015201)x1 - SETBP1_000103 - Morgan 2021, submitted - - Germline/De novo (untested) - - - - - DNA SEQ - - TSC2 Pat4 Morgan 2021, submitted - M - Australia - - - - - 1 Angela Morgan
+/. _1_6_ c.-296_*4812{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_39600614)_(45460709_?)del - arr[hg19] 18q12.3q21.1(39600614_45460709)x1 - SETBP1_000103 - Morgan 2021, submitted - - Germline/De novo (untested) - - - - - DNA SEQ - - TSC2 Pat24 Morgan 2021, submitted - M - Australia - - - - - 1 Angela Morgan
+/? ? c.? r.(?) p.(Glu245*) Maternal (confirmed) - pathogenic g.42530038G>T - c.733G>T (E245X) - SETBP1_000001 Variant Error [EREF/ESYNTAX]: 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: Hoischen 2010 - - Germline - - - - - DNA SEQ - - ? - - - M - - Turkish - - - - 1 LOVD
+/. - c.39_40del r.(?) p.(Gly15Argfs*47) Unknown - pathogenic (dominant) g.42281350_42281351del g.44701385_44701386del - - SETBP1_000033 - PubMed: Coe 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - diagnostic WES Intellectual disability panel Illumina HiSeq2000TM ? - PubMed: Coe 2014 - M - Netherlands - - - - - 1 Bregje van Bon
+/. - c.39_40del r.(?) p.(Gly15ArgfsTer47) Unknown - pathogenic g.42281350_42281351del - SETBP1(NM_015559.3):c.39_40delAG (p.G15Rfs*47) - SETBP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.44del r.(?) p.(Gly15AlafsTer49) Unknown - pathogenic g.42281355del g.44701390del SETBP1(NM_015559.3):c.44delG (p.G15Afs*49) - SETBP1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.46G>A r.(?) p.(Glu16Lys) Unknown - likely benign g.42281357G>A - SETBP1(NM_015559.2):c.46G>A (p.(Glu16Lys)) - SETBP1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.89_98dup r.(?) p.(Ala34Serfs*32) Unknown - pathogenic g.42281400_42281409dup - SETBP1(NM_015559.3):c.89_98dupCTCCTGGCTG (p.A34Sfs*32) - SETBP1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161G>A r.(?) p.(Arg54His) Unknown - likely benign g.42281472G>A - SETBP1(NM_015559.3):c.161G>A (p.R54H) - SETBP1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.200G>T r.(?) p.(Arg67Leu) Unknown - VUS g.42281511G>T - SETBP1(NM_015559.3):c.200G>T (p.R67L) - SETBP1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.243G>A r.(?) p.(Val81=) Unknown - likely benign g.42281554G>A g.44701589G>A SETBP1(NM_015559.3):c.243G>A (p.V81=) - SETBP1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.337del r.(?) p.(Ala113Leufs*94) Unknown - pathogenic (dominant) g.42281648del g.44701683del - - SETBP1_000141 - Morgan 2021, submitted - - Germline/De novo (untested) - - - - - DNA SEQ - - TSC2 Pat15 Morgan 2021, submitted - M - Australia - - - - - 1 Angela Morgan
?/. - c.385A>G r.(?) p.(Ile129Val) Unknown - VUS g.42281696A>G - SETBP1(NM_015559.3):c.385A>G (p.I129V) - SETBP1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.403C>T r.(?) p.(Gln135*) Unknown - pathogenic (dominant) g.42281714C>T g.44701749C>T - - SETBP1_000142 - Morgan 2021, submitted - - Germline/De novo (untested) - - - - - DNA SEQ - - TSC2 Pat25 Morgan 2021, submitted - M - Australia - - - - - 1 Angela Morgan
+/. - c.407_408del r.(?) p.(Ser136Trpfs*12) Unknown - pathogenic (dominant) g.42281718_42281719del g.44701753_44701754del - - SETBP1_000104 - Morgan 2021, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - targeted 275 ID genes panel using SureSelect QXT capture ? Ind6 Morgan 2021, submitted - M - France - - - - - 1 Bregje van Bon
+/. - c.422dup r.(?) p.(Arg142Valfs*7) Unknown - pathogenic (dominant) g.42281733dup g.44701768dup - - SETBP1_000143 - Morgan 2021, submitted - - Germline/De novo (untested) - - - - - DNA SEQ - - TSC2 Pat22 Morgan 2021, submitted - F - Australia - - - - - 1 Angela Morgan
+/. - c.427del r.(?) p.(Arg143Valfs*64) Unknown - pathogenic (dominant) g.42281738del g.44701773del - - SETBP1_000105 - PubMed: Coe 2014 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - targeted 26 ID genes panel using MIP based capture ? - PubMed: Coe 2014 - F - Italy - - - - - 1 Bregje van Bon
+/. - c.440dup r.(?) p.(Asn147LysfsTer2) Unknown - pathogenic g.42281751dup g.44701786dup SETBP1(NM_015559.3):c.440dupA (p.N147Kfs*2) - SETBP1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.453_454insTGGG r.(?) p.(Lys152Trpfs*18) Unknown - pathogenic (dominant) g.42281764_42281765insTGGG g.44701799_44701800insTGGG - - SETBP1_000106 - Morgan 2021, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Ind23 Morgan 2021, submitted - M - United States - - - - - 1 Bregje van Bon
-?/. - c.540+5G>C r.spl? p.? Unknown - likely benign g.42449253G>C - SETBP1(NM_015559.3):c.540+5G>C - SETBP1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.540+7325G>T r.(=) p.(=) Unknown - VUS g.42456573G>T - SETBP1(NM_001130110.2):c.584G>T (p.(Gly195Val)) - SETBP1_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.540+7343A>G r.(=) p.(=) Unknown - VUS g.42456591A>G g.44876626A>G SETBP1(NM_001130110.1):c.602A>G (p.K201R), SETBP1(NM_001130110.2):c.602A>G (p.(Lys201Arg)) - SETBP1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540+7343A>G r.(=) p.(=) Unknown - likely benign g.42456591A>G - SETBP1(NM_001130110.1):c.602A>G (p.K201R), SETBP1(NM_001130110.2):c.602A>G (p.(Lys201Arg)) - SETBP1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540+7346A>G r.(=) p.(=) Unknown - likely benign g.42456594A>G - SETBP1(NM_001130110.1):c.605A>G (p.(Lys202Arg)) - SETBP1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540+7375T>C r.(=) p.(=) Unknown - likely benign g.42456623T>C - SETBP1(NM_001130110.1):c.634T>C (p.(Cys212Arg)) - SETBP1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.540+7405G>A r.(=) p.(=) Unknown - benign g.42456653G>A g.44876688G>A SETBP1(NM_001130110.2):c.664G>A (p.A222T) - SETBP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.540+7405G>A r.(=) p.(=) Unknown - benign g.42456653G>A g.44876688G>A SETBP1(NM_001130110.2):c.664G>A (p.A222T) - SETBP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.540+7412C>G r.(=) p.(=) Unknown - VUS g.42456660C>G - SETBP1(NM_001130110.1):c.671C>G (p.(Pro224Arg)) - SETBP1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.540+7422_540+7423insTCTT r.(=) p.(=) Unknown - benign g.42456670_42456671insTCTT g.44876705_44876706insTCTT SETBP1(NM_001130110.2):c.681_682insTCTT (p.T228Sfs*8) - SETBP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.540+7422_540+7423insTCTT r.(=) p.(=) Unknown - benign g.42456670_42456671insTCTT g.44876705_44876706insTCTT SETBP1(NM_001130110.2):c.681_682insTCTT (p.T228Sfs*8) - SETBP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.540+7444C>T r.(=) p.(=) Unknown - likely pathogenic g.42456692C>T g.44876727C>T SETBP1(NM_001130110.1):c.703C>T (p.(Pro235Ser)) - SETBP1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540+7749G>A r.(=) p.(=) Unknown - likely benign g.42456997G>A - SETBP1(NM_001130110.2):c.*279G>A - SETBP1_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(?_541-10397)_(4000+34535_?)del r.? p.? Unknown - pathogenic (dominant) g.(?_42519449)_(42567840_?)del - arr[GRCh37] 18q12.3(42519449_42567840)x1 - SETBP1_000108 - Morgan 2021, submitted - - De novo - - - - - DNA arraySNP - - ? Ind21 Morgan 2021, submitted - M - United States - - - - - 1 Bregje van Bon
-?/. - c.541-8A>G r.(=) p.(=) Unknown - likely benign g.42529838A>G g.44949873A>G - - SETBP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548A>G r.(?) p.(Glu183Gly) Both (homozygous) ACMG VUS g.42529853A>G g.44949888A>G - - SETBP1_000152 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8600213 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - - - - 3 Johan den Dunnen
-?/. - c.575A>G r.(?) p.(His192Arg) Unknown - likely benign g.42529880A>G - SETBP1(NM_015559.3):c.575A>G (p.H192R) - SETBP1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.583A>C r.(?) p.(Thr195Pro) Unknown - likely benign g.42529888A>C g.44949923A>C SETBP1(NM_015559.2):c.583A>C (p.(Thr195Pro)) - SETBP1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.608G>A r.(?) p.(Gly203Asp) Unknown - VUS g.42529913G>A - SETBP1(NM_015559.2):c.608G>A (p.(Gly203Asp)) - SETBP1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.671C>T r.(?) p.(Thr224Ile) Unknown ACMG VUS g.42529976C>T - Thr224Ile - SETBP1_000094 - - - - Germline no 1/656 - - - DNA SEQ-NG-IT - gene panel MR;ID MR2128_01 - - M no Italy - - - - - 1 Emanuela Leonardi
+?/. - c.681_682insTT r.(?) p.(Ser228Leufs*116) Unknown - likely pathogenic g.42529986_42529987insTT g.44950021_44950022insTT - - SETBP1_000008 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - DNA SEQ - WES CAKUT 29100090-FamDC20 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - - - - 1 Johan den Dunnen
-/. - c.691G>C r.(?) p.(Val231Leu) Unknown - benign g.42529996G>C g.44950031G>C SETBP1(NM_015559.3):c.691G>C (p.V231L) - SETBP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.691G>C r.(?) p.(Val231Leu) Unknown - benign g.42529996G>C g.44950031G>C - - SETBP1_000012 - PubMed: Filges 2020 - rs11082414 Germline - 4/142 cases developmental delay - - - DNA SEQ - - DD case PubMed: Filges 2020 analysis 142 cases developmental delay - - Japan - - - - - 4 Johan den Dunnen
+/. - c.726del r.(?) p.(Arg243GlufsTer100) Unknown - pathogenic g.42530031del - SETBP1(NM_015559.3):c.726delC (p.R243Efs*100) - SETBP1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.726_732del r.(?) p.(Arg243Leufs*98) Unknown - pathogenic (dominant) g.42530031_42530037del g.44950066_44950072del - - SETBP1_000109 - Morgan 2021, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - GeneDx XomeDx/Clinical Exome Sequence Analysis ? Ind22 Morgan 2021, submitted - M - United States - - - - - 1 Bregje van Bon
+/. - c.740del r.(?) p.(Ser247Thrfs*96) Unknown ACMG pathogenic (dominant) g.42530045del g.44950080del - - SETBP1_000161 ACMG: PVS1, PS2_SUP, PM2_SUP, confirmed de novo in trio-exome - - - De novo ? - - - - DNA SEQ-NG-I - - MRD29 211479 - - F no Germany - - - - - 1 Andreas Laner
+/. - c.755_756delinsT r.(?) p.(Pro252Leufs*91) Unknown - pathogenic (dominant) g.42530060_42530061delinsT g.44950095_44950096delinsT 3799_3800insC - SETBP1_000110 - Morgan 2021, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - diagnostic WES Intellectual disability panel ? Ind12 Morgan 2021, submitted - F - France - - - - - 1 Bregje van Bon
+?/. - c.757del r.(?) p.(Ala253LeufsTer90) Unknown - likely pathogenic g.42530062del g.44950097del - - SETBP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.757G>A r.(?) p.(Ala253Thr) Unknown - likely benign g.42530062G>A g.44950097G>A SETBP1(NM_015559.3):c.757G>A (p.A253T) - SETBP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.769G>A r.(?) p.(Val257Met) Unknown - likely benign g.42530074G>A g.44950109G>A SETBP1(NM_015559.3):c.769G>A (p.V257M) - SETBP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.821G>A r.(?) p.(Trp274*) Unknown - pathogenic (dominant) g.42530126G>A g.44950161G>A - - SETBP1_000111 - Morgan 2021, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - 2678 gene panel ? Ind19 Morgan 2021, submitted - M - United States - - - - - 1 Bregje van Bon
?/. - c.846A>G r.(?) p.(Lys282=) Unknown - VUS g.42530151A>G g.44950186A>G SETBP1(NM_015559.3):c.846A>G (p.K282=) - SETBP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.868G>T r.(?) p.(Ala290Ser) Paternal (confirmed) ACMG VUS g.42530173G>T - p.Ala290Ser - SETBP1_000095 - - - rs764954143 Germline no 1/656 - - - DNA SEQ-NG-IT - gene panel MR;ID MR2622_01 - - F no Romania - - - - - 1 Emanuela Leonardi
-?/. - c.927C>T r.(?) p.(Asn309=) Unknown - likely benign g.42530232C>T g.44950267C>T SETBP1(NM_015559.3):c.927C>T (p.N309=) - SETBP1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.927C>T r.(?) p.(Asn309=) Unknown - likely benign g.42530232C>T - SETBP1(NM_015559.3):c.927C>T (p.N309=) - SETBP1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1061G>C r.(?) p.(Trp354Ser) Unknown - VUS g.42530366G>C - SETBP1(NM_015559.2):c.1061G>C (p.(Trp354Ser)) - SETBP1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1117T>G r.(?) p.(Ser373Ala) Unknown - likely benign g.42530422T>G - SETBP1(NM_015559.2):c.1117T>G (p.(Ser373Ala)) - SETBP1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.1169C>T r.(?) p.(Ala390Val) Unknown - benign g.42530474C>T g.44950509C>T - - SETBP1_000112 - PubMed: Filges 2020 - rs8091231 Germline - 1/142 cases developmental delay - - - DNA SEQ - - DD case PubMed: Filges 2020 analysis 142 cases developmental delay - - Japan - - - - - 1 Johan den Dunnen
?/. 4 c.1202G>A r.(?) p.(Arg401Gln) Unknown ACMG VUS g.42530507G>A g.44950542G>A - - SETBP1_000096 - - - rs144407969 Germline ? 1/656 - - - DNA SEQ-NG-IT - gene panel epilepsy MR3700_01 - - M ? Italy - - - - - 1 Emanuela Leonardi
-?/. - c.1210A>G r.(?) p.(Ile404Val) Unknown - likely benign g.42530515A>G - SETBP1(NM_015559.2):c.1210A>G (p.(Ile404Val)) - SETBP1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1231_1232del r.(?) p.(Leu411Glyfs*6) Unknown - pathogenic (dominant) g.42530536_42530537del g.44950571_44950572del - - SETBP1_000113 - PubMed: Coe 2014 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - targeted 26 ID genes panel using MIP based capture ? - PubMed: Coe 2014 - M - Netherlands - - - - - 1 Bregje van Bon
+?/. - c.1247A>G r.(?) p.(His416Arg) Unknown ACMG likely pathogenic (dominant) g.42530552A>G g.44950587A>G - - SETBP1_000163 ACMG PM1,PM2,PP3,PP4 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat93 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.1248T>C r.(?) p.(His416=) Unknown - likely benign g.42530553T>C - SETBP1(NM_015559.3):c.1248T>C (p.H416=) - SETBP1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1264C>T r.(?) p.(Gln422*) Unknown - pathogenic g.42530569C>T - SETBP1(NM_015559.3):c.1264C>T (p.Q422*) - SETBP1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1408del r.(?) p.(Met470*) Unknown - pathogenic (dominant) g.42530713del g.44950748del - - SETBP1_000144 - Morgan 2021, submitted - - Germline/De novo (untested) - - - - - DNA SEQ - - TSC2 Pat10 Morgan 2021, submitted - M - Australia - - - - - 1 Angela Morgan
-?/. - c.1426C>T r.(?) p.(Pro476Ser) Unknown - likely benign g.42530731C>T - SETBP1(NM_015559.2):c.1426C>T (p.(Pro476Ser)) - SETBP1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1451G>C r.(?) p.(Gly484Ala) Unknown - likely benign g.42530756G>C - SETBP1(NM_015559.3):c.1451G>C (p.(Gly484Ala)) - SETBP1_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1481T>C r.(?) p.(Val494Ala) Unknown - likely benign g.42530786T>C g.44950821T>C SETBP1(NM_015559.3):c.1481T>C (p.V494A) - SETBP1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1490C>T r.(?) p.(Pro497Leu) Unknown - likely benign g.42530795C>T - SETBP1(NM_015559.2):c.1490C>T (p.(Pro497Leu)), SETBP1(NM_015559.3):c.1490C>T (p.P497L) - SETBP1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1490C>T r.(?) p.(Pro497Leu) Unknown - likely benign g.42530795C>T - SETBP1(NM_015559.2):c.1490C>T (p.(Pro497Leu)), SETBP1(NM_015559.3):c.1490C>T (p.P497L) - SETBP1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1491G>A r.(?) p.(Pro497=) Unknown - benign g.42530796G>A g.44950831G>A SETBP1(NM_015559.3):c.1491G>A (p.P497=) - SETBP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1491G>A r.(?) p.(Pro497=) Unknown - benign g.42530796G>A g.44950831G>A SETBP1(NM_015559.3):c.1491G>A (p.P497=) - SETBP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1502C>T r.(?) p.(Pro501Leu) Unknown - VUS g.42530807C>T - SETBP1(NM_015559.2):c.1502C>T (p.(Pro501Leu)) - SETBP1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1516C>G r.(?) p.(Pro506Ala) Unknown - likely benign g.42530821C>G - SETBP1(NM_015559.2):c.1516C>G (p.(Pro506Ala)) - SETBP1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1568del r.(?) p.(His523Leufs*32) Unknown - pathogenic (dominant) g.42530873del g.44950908del - - SETBP1_000114 - Morgan 2021, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - diagnostic WES GeneDx XomeDxPlus ? Ind16 Morgan 2021, submitted - M - United States - - - - - 1 Bregje van Bon
+/. - c.1588C>T r.(?) p.(Arg530*) Unknown - pathogenic (dominant) g.42530893C>T g.44950928C>T - - SETBP1_000145 - Morgan 2021, submitted - - Germline/De novo (untested) - - - - - DNA SEQ - - TSC2 Pat3 Morgan 2021, submitted - F - Australia - - - - - 1 Angela Morgan
+?/. 4 c.1593del r.(?) p.(Arg531Serfs*24) Unknown ACMG likely pathogenic g.42530898del g.44950933del - - SETBP1_000194 - - ClinVar-3383975 - De novo - - - - - DNA SEQ-NG-I peripheral blood CES DD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.1596G>A r.(?) p.(Trp532*) Unknown - pathogenic (dominant) g.42530901G>A g.44950936G>A - - SETBP1_000115 - PubMed: Coe 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - targeted 26 ID genes panel using MIP based capture ? - PubMed: Coe 2014 - M - Italy - - - - - 1 Bregje van Bon
+/. - c.1630C>T r.(?) p.(Arg544Ter) Unknown - pathogenic g.42530935C>T - - - SETBP1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1630C>T r.(?) p.(Arg544*) Unknown - pathogenic (dominant) g.42530935C>T g.44950970C>T - - SETBP1_000085 - Morgan 2021, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - diagnostic WES Intellectual disability panel Illumina HiSeq, gene panel version DG-2.17 Radboudumc ? Ind13 Morgan 2021, submitted - F - Netherlands - - - - - 1 Bregje van Bon
+?/. - c.1630C>T r.(?) p.(Arg544*) Unknown - likely pathogenic (dominant) g.42530935C>T - - - SETBP1_000085 - - - - De novo - - - - - DNA SEQ-NG - WES ID, MRD29, SGS 083P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.1633G>T r.(?) p.(Glu545*) Unknown - pathogenic (dominant) g.42530938G>T g.44950973G>T - - SETBP1_000116 - Morgan 2021, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - diagnostic WES GeneDx XomeDxPlus ? Ind14 Morgan 2021, submitted - F - United States - - - - - 1 Bregje van Bon
+/. - c.1676del r.(?) p.(Pro559Argfs*21) Unknown - pathogenic (dominant) g.42530981del g.44951016del - - SETBP1_000117 - Morgan 2021, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - diagnostic WES GeneDx XomeDxPlus ? Ind18 Morgan 2021, submitted - M - United States - - - - - 1 Bregje van Bon
+/. - c.1730_1749del r.(?) p.(Leu577GlnfsTer20) Unknown - pathogenic g.42531035_42531054del g.44951070_44951089del SETBP1(NM_015559.3):c.1730_1749delTTACTGTGATCACTCCAGTC (p.L577Qfs*20) - SETBP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1765C>T r.(?) p.(Arg589Ter) Unknown - pathogenic g.42531070C>T g.44951105C>T SETBP1(NM_015559.3):c.1765C>T (p.R589*) - SETBP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1765C>T r.(?) p.(Arg589Ter) Unknown - pathogenic g.42531070C>T g.44951105C>T SETBP1(NM_015559.3):c.1765C>T (p.R589*) - SETBP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1765C>T r.(?) p.(Arg589*) Unknown ACMG pathogenic g.42531070C>T g.44951105C>T - - SETBP1_000019 - - - - De novo - 1/656 - - - DNA SEQ-NG-IT - - MRD29 MR3016_01 - - M no Italy - - - - - 1 Emanuela Leonardi
+?/. 4 c.1765C>T r.(?) p.(Arg589*) Unknown ACMG pathogenic g.42531070C>T g.44951105C>T - - SETBP1_000019 - - - - De novo - 1/656 - - - DNA SEQ, SEQ-NG - 74-gene panel ID ID - PubMed: Leonardi 2020, Journal: Leonardi 2020 carries de novo LoF variant in SETBP1 M - Italy - - - - - 1 Emanuela Leonardi
+/. - c.1774A>T r.(?) p.(Lys592*) Unknown - pathogenic (dominant) g.42531079A>T g.44951114A>T - - SETBP1_000118 - PubMed: Rauch 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - Study WES Illumina HiSeq2000 ? BO22/10 PubMed: Rauch 2012 - F - Germany - - - - - 1 Bregje van Bon
+/. - c.1777C>T r.(?) p.(Gln593*) Unknown - pathogenic (dominant) g.42531082C>T g.44951117C>T - - SETBP1_000119 - Morgan 2021, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - clinical WES ? Ind20 Morgan 2021, submitted - F - Israel - - - - - 1 Bregje van Bon
+/. - c.1781del r.(?) p.(Pro594Leufs*36) Unknown - pathogenic g.42531086del g.44951121del - - SETBP1_000079 - PubMed: Eising 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - study WGS Illumina’s HiSeq Xten SPCH Pat13 PubMed: Eising 2018 analysis 19 individuals with childhood apraxia of speech F - - - - - - - 1 Bregje van Bon
+?/. - c.1821del r.(?) p.(Ser608Alafs*22) Unknown - pathogenic (dominant) g.42531126del g.44951161del - - SETBP1_000083 - PubMed: Hamdan 2015 - - De novo - - - - - DNA SEQ-NG - study WES Illumina HiSeq2000 ID 1861.653 PubMed: Hamdan 2015 - M - Canada French - - - - 1 Johan den Dunnen
-?/. - c.1873C>A r.(?) p.(=) Unknown - likely benign g.42531178C>A - SETBP1(NM_015559.3):c.1873C>A (p.R625=) - SETBP1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1873C>T r.(?) p.(Arg625*) Unknown - likely pathogenic (dominant) g.42531178C>T g.44951213C>T - - SETBP1_000020 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411268 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1873C>T r.(?) p.(Arg625*) Unknown - pathogenic (dominant) g.42531178C>T g.44951213C>T - - SETBP1_000020 - PubMed: Coe 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - diagnostic WES Intellectual disability panel Illumina HiSeq, gene panel LUMC ? - PubMed: Coe 2014 - F - Netherlands - - - - - 1 Bregje van Bon
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