Full data view for gene SATB1

Information The variants shown are described using the NM_001195470.1 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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.(?_1206+3450)_*1529{0} r.? p.? Paternal (confirmed) - pathogenic (dominant) g.(?_18376866)_(18432504_?)del - 18376866-18432504del - SATB1_000024 55kb partial deletion SATB1 partially; de novo in father PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - Germline - - - - - DNA arraySNP, SEQ-NG, PCRq - Affymetrix Cytoscan HD array, WES NDD Pat2 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 father assessed by a geneticist healthy and cognitively normal (psychological problems), no experimental indications for mosaicism in father F - - - - - - - 1 Johan den Dunnen
+/. _1_12_ c.-1735_*1529{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_17915162)_(18968823_?)del - 17915162-18968823del (3p24.3) - SATB1_000023 1.05 Mb deletion SATB1 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - Germline/De novo (untested) - - - - - DNA arrayCGH - Agilent Human Genome CGH Microarray Kit 180K NDD Pat1 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
?/. - c.226G>C r.(?) p.(Val76Leu) Unknown - VUS g.18458556C>G - SATB1(NM_002971.6):c.226G>C (p.(Val76Leu)) - SATB1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.410G>A r.(?) p.(Trp137*) Unknown - likely pathogenic g.18457604C>T - - - SATB1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.542C>T r.(?) p.(Pro181Leu) Unknown - pathogenic (dominant) g.18456700G>A - - - SATB1_000027 - PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES NDD Pat15 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, affected mother/son daughter, unaffected parents F - - - - - - - 3 Johan den Dunnen
+/. - c.542C>T r.(?) p.(Pro181Leu) Maternal (confirmed) - pathogenic (dominant) g.18456700G>A - - - SATB1_000027 - PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ-NG - WES NDD Pat13 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 son/half-brother M - - - - - - - 1 Johan den Dunnen
+/. - c.542C>T r.(?) p.(Pro181Leu) Maternal (confirmed) - pathogenic (dominant) g.18456700G>A - - - SATB1_000027 - PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ-NG - WES NDD Pat14 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 daughter/half-sister F - - - - - - - 1 Johan den Dunnen
?/. - c.607_608del r.(?) p.(Ser203PhefsTer49) Unknown - VUS g.18456636_18456637del g.18415144_18415145del - - SATB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.607_608del r.(?) p.(Ser203Phefs*49) Unknown - pathogenic (dominant) g.18456636_18456637del g.18415144_18415145del 607_608delAG - SATB1_000001 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.656T>C r.(?) p.(Ile219Thr) Unknown - likely pathogenic g.18438766A>G - SATB1(NM_001195470.3):c.656T>C (p.I219T) - SATB1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.788G>T r.(?) p.(Gly263Val) Unknown - VUS g.18436372C>A - SATB1(NM_002971.6):c.788G>T (p.(Gly263Val)) - SATB1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.934A>G r.(?) p.(Ile312Val) Unknown - VUS g.18436226T>C - SATB1(NM_001195470.3):c.934A>G (p.I312V) - SATB1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.967A>G r.(?) p.(Met323Val) Unknown - pathogenic (dominant) g.18436193T>C g.18394701T>C - - SATB1_000021 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD ?;Pat16 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1004_1005del r.(?) p.(Arg335Thrfs*20) Unknown - pathogenic (dominant) g.18436156_18436157del g.18394664_18394665del 1004_1005delGA - SATB1_000020 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.1097C>T r.(?) p.(Ser366Leu) Unknown - likely benign g.18436063G>A - SATB1(NM_001195470.3):c.1097C>T (p.S366L) - SATB1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1173G>A r.(?) p.(=) Unknown - likely benign g.18435987C>T - SATB1(NM_001195470.3):c.1173G>A (p.A391=) - SATB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1205A>G r.(?) p.(Gln402Arg) Unknown - pathogenic (dominant) g.18435955T>C g.18394463T>C - - SATB1_000019 father unavaible, not maternal Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat17 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1205A>G r.(?) p.(Gln402Arg) Unknown - pathogenic (dominant) g.18435955T>C g.18394463T>C - - SATB1_000019 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD ?;Pat18 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1219G>C r.(?) p.(Glu407Gln) Unknown - pathogenic (dominant) g.18428091C>G g.18386599C>G - - SATB1_000018 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat23 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, {DOI:Den Hoed 2021:10.1016/j.ajhg.2021.01.007 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1219G>C r.(?) p.(Glu407Gln) Unknown - pathogenic (dominant) g.18428091C>G - - - SATB1_000018 - PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ-NG - WES NDD Pat24 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1220A>G r.(?) p.(Glu407Gly) Maternal (inferred) - pathogenic (dominant) g.18428090T>C g.18386598T>C - - SATB1_000017 maternal mosaicism (most likely post zygotic de novo variant, low frequency mosaic detected by exome sequencing in mother,1/69 reads peripheral blood) Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat19 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 3 affected (F, 2M), unaffected non-carrier parents F - - - 19y - - - 3 Johan den Dunnen
+/. - c.1220A>G r.(?) p.(Glu407Gly) Maternal (inferred) - pathogenic (dominant) g.18428090T>C g.18386598T>C - - SATB1_000017 maternal mosaicism Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat20 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 half brother Pat19, full brother Pat21 M - - - 15y - - - 1 Johan den Dunnen
+/. - c.1220A>G r.(?) p.(Glu407Gly) Maternal (inferred) - pathogenic (dominant) g.18428090T>C g.18386598T>C - - SATB1_000017 maternal mosaicism Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat21 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 half brother Pat19, full brother Pat20 M - - - 14y - - - 1 Johan den Dunnen
+/. - c.1228C>T r.(?) p.(Arg410*) Unknown - pathogenic (dominant) g.18428082G>A - - - SATB1_000025 - PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Unknown - pathogenic (dominant) g.18428073C>T g.18386581C>T - - SATB1_000015 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat25 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1259A>G r.(?) p.(Gln420Arg) Unknown - pathogenic (dominant) g.18428051T>C - - - SATB1_000016 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat26 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1327A>G r.(?) p.(Ile443Val) Unknown - VUS g.18427983T>C - SATB1(NM_002971.4):c.1327A>G (p.(Ile443Val)) - SATB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1460del r.(?) p.(Pro487Glnfs*6) Unknown - pathogenic (dominant) g.18419778del g.18378286del 1460delC - SATB1_000013 - Den Hoedt ESHG2020 C02.2, PubMed: Satterstrom 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 Den Hoedt ESHG2020 C02.2, PubMed: Satterstrom 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1574A>G r.(?) p.(Gln525Arg) Unknown - pathogenic (dominant) g.18419663T>C - - - SATB1_000022 suspected parental mosaicism, Sanger sequencing (blood) for both parents could not confirm this, variant not detected Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat27 Den Hoedt ESHG2020 C02.2, PubMed: Donnai 2005, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 2 affected sibs (F, M), unaffected non-carrier parents F - - - - - - - 2 Johan den Dunnen
+/. - c.1574A>G r.(?) p.(Gln525Arg) Unknown - pathogenic (dominant) g.18419663T>C - - - SATB1_000022 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat28 Den Hoedt ESHG2020 C02.2, PubMed: Donnai 2005, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 brother M - - - - - - - 1 Johan den Dunnen
+/. - c.1576G>A r.spl p.? Unknown - pathogenic (dominant) g.18393687C>T g.18352195C>T - - SATB1_000012 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic g.18393675C>T g.18352183C>T - - SATB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat30 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat31 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD ?;Pat32 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD ?;Pat33 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD ?;Pat34 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat35 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat36 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Gly530Lys) Unknown - pathogenic (dominant) g.18393675C>T - - - SATB1_000002 - PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ-NG - WES NDD Pat37 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1588G>C r.(?) p.(Glu530Gln) Unknown - pathogenic (dominant) g.18393675C>G g.18352183C>G - - SATB1_000011 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat38 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1589A>G r.(?) p.(Glu530Gly) Unknown - pathogenic (dominant) g.18393674T>C g.18352182T>C - - SATB1_000010 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat29 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1639G>A r.(?) p.(Glu547Lys) Unknown - pathogenic (dominant) g.18393624C>T g.18352132C>T - - SATB1_000009 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD ?;Pat39 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1688G>A r.(?) p.(Arg563His) Unknown - VUS g.18393575C>T - SATB1(NM_002971.4):c.1688G>A (p.(Arg563His)) - SATB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1730A>G r.(?) p.(His577Arg) Unknown - pathogenic (dominant) g.18393533T>C g.18352041T>C - - SATB1_000008 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat40 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1914G>T r.(?) p.(Gln638His) Unknown - VUS g.18391136C>A - SATB1(NM_002971.6):c.1818G>T (p.(Gln606His)) - SATB1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1952A>G r.(?) p.(Gln651Arg) Unknown - pathogenic (dominant) g.18391098T>C g.18349606T>C 1856A>G (Gln619Arg) - SATB1_000007 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat41 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - c.1973del r.(?) p.(Pro658Hisfs*81) Unknown - pathogenic (dominant) g.18391082del g.18349590del 1877delC (Pro626Hisfs*81) - SATB1_000006 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD ?;Pat8 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.2047del r.(?) p.(Ile683Phefs*56) Unknown - likely pathogenic g.18391007del - SATB1(NM_001195470.3):c.2047delA (p.I683Ffs*56) - SATB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2095G>A r.(?) p.(Gly699Ser) Unknown - VUS g.18390955C>T - SATB1(NM_002971.4):c.1999G>A (p.(Gly667Ser)) - SATB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2128_2129del r.(?) p.(Leu710Valfs*42) Unknown - pathogenic (dominant) g.18390923_18390924del g.18349431_18349432del 2032_2033delCT - SATB1_000026 - PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES NDD Pat10 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, affected father/daughter, unaffected parents M - - - - - - - 2 Johan den Dunnen
+/. - c.2128_2129del r.(?) p.(Leu710Valfs*42) Paternal (confirmed) - pathogenic (dominant) g.18390923_18390924del g.18349431_18349432del 2032_2033delCT - SATB1_000026 - PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ-NG - WES NDD Pat9 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 daughter F - - - - - - - 1 Johan den Dunnen
?/. - c.2140C>G r.(?) p.(Leu714Val) Unknown - VUS g.18390910G>C g.18349418G>C c.2044C>G (Leu682Val) - SATB1_000005 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat42 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.2176C>T r.(?) p.(Gln726*) Unknown - pathogenic (dominant) g.18390874G>A g.18349382G>A 2080C>T (Gln694*) - SATB1_000004 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2303del r.(?) p.(Asn768Ilefs*8) Maternal (confirmed) - pathogenic (dominant) g.18390751del g.18349259del 2207del (N736Ifs*8) - SATB1_000003 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 mother reported healthy, no known concerns about development, further follow up by a geneticist not performed F - - - - - - - 1 Johan den Dunnen
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