Full data view for gene GATAD2B

Information The variants shown are described using the NM_020699.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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.-2+3915T>C r.(=) p.(=) Unknown - likely benign g.153891294A>G - GATAD2B(NM_020699.4):c.-2+3915T>C - DENND4B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2+3925T>C r.(=) p.(=) Unknown - likely benign g.153891284A>G - GATAD2B(NM_020699.4):c.-2+3925T>C - DENND4B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1-1539_1216+432del r.(?) ? Unknown - pathogenic g.153788348_153802394del g.153815872_153829918del - - GATAD2B_000017 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. 1i_7i c.-1-1539_1216+432del r.? p.? Unknown - pathogenic (dominant) g.153788348_153802394del g.153815872_153829918del g.153788317_153802363del - GATAD2B_000017 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD P16 PubMed: Vera 2020 - F - Germany - - - - - 1 Johan den Dunnen
+/. 2 c.115dup r.(?) p.(Ala39Glyfs*20) Unknown - pathogenic (dominant) g.153800710dup g.153828234dup - - GATAD2B_000039 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - ID gene panel NDD P3 PubMed: Vera 2020 - M - France white - - - - 1 Johan den Dunnen
+/. 2 c.271dup r.(?) p.(Thr91Asnfs*12) Unknown - pathogenic (dominant) g.153800553dup g.153828077dup 271dupA - GATAD2B_000038 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD P13 PubMed: Vera 2020 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.295_296del r.(?) p.(Asn99Hisfs*3) Unknown - likely pathogenic g.153800530_153800531del - - - GATAD2B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.335+1G>A r.spl? p.? Unknown - pathogenic g.153800488C>T g.153828012C>T - - GATAD2B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_8i c.335+4026_1420-155del r.? p.? Unknown - pathogenic (dominant) g.153784765_153796465del g.153812289_153823989del g.153784763_153796463del - GATAD2B_000028 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - ID gene panel NDD P1 PubMed: Vera 2020 - M - France white - - - - 1 Johan den Dunnen
+/. - c.392dup r.(?) p.(Asn131Lysfs*2) Unknown - pathogenic g.153792156dup - - - GATAD2B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.414del r.(?) p.(Ser139Valfs*13) Unknown ACMG likely pathogenic g.153792134del g.153819658del - - GATAD2B_000023 ACMG grading: PVS1,PM2 1,5 year old boy, developmental delay, motor and speech, big head, white spots dorsal - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.465+1G>C r.spl? p.? Unknown - pathogenic g.153792081C>G g.153819605C>G - - GATAD2B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.466-1G>C r.spl? p.? Unknown ACMG likely pathogenic (dominant) g.153791399C>G - - - GATAD2B_000046 ACMG: PVS1; PM2_SUP; This variant probably leads to in-frame skipping of exon 3 of the GATAD2B gene. Another exon 3 skipping variant as well as several loss-of-function and missense variants in exon 3 of the GATAD2B gene are described as clearly pathogenic in databases and in the literature. - - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - MRD 151741 - - F ? Germany - - - - - 1 Andreas Laner
+?/. - c.512dup r.(?) p.(Asp171GlufsTer2) Unknown - likely pathogenic g.153791352dup g.153818876dup GATAD2B(NM_020699.2):c.512dupA (p.(Asp171GlufsTer2)) - GATAD2B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.535C>T r.(?) p.(Arg179Ter) Unknown - pathogenic g.153791329G>A g.153818853G>A GATAD2B(NM_020699.3):c.535C>T (p.R179*) - GATAD2B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.535C>T r.(?) p.(Arg179*) Unknown - pathogenic (dominant) g.153791329G>A g.153818853G>A - - GATAD2B_000006 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - ID gene panel NDD P10 PubMed: Vera 2020 - M - France white - - - - 1 Johan den Dunnen
+/. - c.552_555del r.(?) p.(Lys184Asnfs*2) Parent #1 ACMG pathogenic g.153791312_153791315del g.153818836_153818839del - - GATAD2B_000045 ACMG PVS1, PS2 PubMed: Anazi 2017 - - De novo - - - - - DNA SEQ-NG - WES ID 14DG0271 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.562C>T r.(?) p.(Gln188Ter) Unknown - pathogenic g.153791302G>A g.153818826G>A - - GATAD2B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.597G>A r.(?) p.(Lys199=) Unknown - likely pathogenic g.153791267C>T g.153818791C>T GATAD2B(NM_020699.4):c.597G>A (p.K199=) - GATAD2B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.597+1G>A r.spl p.? Unknown - pathogenic (dominant) g.153791266C>T g.153818790C>T - - GATAD2B_000037 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD P7 PubMed: Vera 2020 - F - France white - - - - 1 Johan den Dunnen
+?/. - c.597+1G>A r.spl p.? Unknown - likely pathogenic (dominant) g.153791266C>T g.153818790C>T - - GATAD2B_000037 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2139.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.653_654dup r.(?) p.(Gln219Aspfs*22) Unknown ACMG pathogenic g.153790591_153790592dup g.153818115_153818116dup - - GATAD2B_000057 - - ClinVar-3381764 - De novo - - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. 5 c.673_674del r.(?) p.(Leu225Serfs*10) Unknown - pathogenic (dominant) g.153790571_153790572del g.153818095_153818096del - - GATAD2B_000036 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD P2 PubMed: Vera 2020 - M - France white - - - - 1 Johan den Dunnen
?/. - c.680C>T r.(?) p.(Ser227Phe) Unknown - VUS g.153790565G>A - GATAD2B(NM_020699.4):c.680C>T (p.S227F) - GATAD2B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.706C>T r.(?) p.(Pro236Ser) Unknown - likely benign g.153790539G>A g.153818063G>A GATAD2B(NM_020699.2):c.706C>T (p.(Pro236Ser)) - GATAD2B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.725T>G r.(?) p.(Leu242Ter) Unknown - pathogenic g.153790520A>C g.153818044A>C - - GATAD2B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.729+15G>A r.(=) p.(=) Unknown - benign g.153790501C>T g.153818025C>T - - GATAD2B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.815_816insTCCA r.(?) p.(Gln272Hisfs*11) Unknown ACMG likely pathogenic g.153789935_153789936insATGG g.153817459_153817460insATGG - - GATAD2B_000001 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - GAND;MRD18 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+?/. 6 c.841A>T r.(?) p.(Lys281*) Unknown - pathogenic g.153789907T>A g.153817431T>A - - GATAD2B_000018 - PubMed: Vera 2020 - - De novo - 1/485 cases - - - DNA SEQ-NG-IT Blood gene panel (for the list of genes see PMID:31209962) GAND;MRD18 P18 PubMed: Vera 2020 - F no Italy;(Italy) Italian - 1 - - 1 Emanuela Leonardi
?/. - c.898C>G r.(?) p.(Pro300Ala) Unknown - VUS g.153789850G>C - GATAD2B(NM_020699.2):c.898C>G (p.(Pro300Ala)) - GATAD2B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.899C>T r.(?) p.(Pro300Leu) Unknown - likely benign g.153789849G>A - GATAD2B(NM_020699.2):c.899C>T (p.(Pro300Leu)) - GATAD2B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900G>A r.(?) p.(=) Unknown - likely benign g.153789848C>T - GATAD2B(NM_020699.4):c.900G>A (p.P300=) - GATAD2B_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.900+1del r.spl? p.? Unknown - likely pathogenic g.153789848del - GATAD2B(NM_020699.4):c.900+1delG - GATAD2B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.973C>T r.(?) p.(Gln325*) Unknown - pathogenic (dominant) g.153788992G>A g.153816516G>A - - GATAD2B_000035 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD P11 PubMed: Vera 2020 - M - France white - - - - 1 Johan den Dunnen
+/. 7 c.1198_1199del r.(?) p.(Ser400Cysfs*3) Unknown - pathogenic (dominant) g.153788768_153788769del g.153816292_153816293del g.153788766_153788767del - GATAD2B_000034 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - ID gene panel NDD P8 PubMed: Vera 2020 - M - France white - - - - 1 Johan den Dunnen
+?/. - c.1198_1199del r.(?) p.(Ser400Cysfs*3) Unknown - likely pathogenic g.153788768_153788769del g.153816292_153816293del - - GATAD2B_000034 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
?/. - c.1216G>T r.(?) p.(Gly406Cys) Unknown - VUS g.153788749C>A g.153816273C>A GATAD2B(NM_020699.2):c.1216G>T (p.(Gly406Cys)) - GATAD2B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1217-474G>A r.(=) p.(=) Unknown - likely benign g.153786402C>T - GATAD2B(NM_020699.4):c.1217-474G>A - GATAD2B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1217-2A>G r.spl p.? Unknown - pathogenic (dominant) g.153785930T>C g.153813454T>C - - GATAD2B_000024 - PubMed: Hamdan 2015 - - De novo - - - - - DNA SEQ-NG - WES ID 1907.666 PubMed: Hamdan 2015 - F - Canada - - - - - 1 Johan den Dunnen
+/. 7i c.1217-1G>C r.spl p.? Unknown - pathogenic (dominant) g.153785929C>G g.153813453C>G - - GATAD2B_000033 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - ID panel NDD P15 PubMed: Vera 2020 - F - France white - - - - 1 Johan den Dunnen
+/. - c.1243dup r.(?) p.(Val415GlyfsTer2) Unknown - pathogenic g.153785904dup - GATAD2B(NM_020699.4):c.1243dupG (p.V415Gfs*2) - GATAD2B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1246G>T r.(?) p.(Glu416*) Unknown - pathogenic (dominant) g.153785899C>A g.153813423C>A - - GATAD2B_000032 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD P19 PubMed: Vera 2020 - M - France Madagascar Malagasy - - - - 1 Johan den Dunnen
+/. 8 c.1261dup r.(?) p.(Ala421Glyfs*18) Unknown - pathogenic (dominant) g.153785884dup g.153813408dup - - GATAD2B_000031 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD P4 PubMed: Vera 2020 - F - France white - - - - 1 Johan den Dunnen
+/. - c.1268G>A r.(?) p.(Cys423Tyr) Unknown - pathogenic g.153785877C>T - GATAD2B(NM_020699.4):c.1268G>A (p.C423Y) - GATAD2B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1270C>T r.(?) p.(Arg424Cys) Unknown - likely benign g.153785875G>A - GATAD2B(NM_020699.2):c.1270C>T (p.(Arg424Cys)) - GATAD2B_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1292G>A r.(?) p.(Trp431*) Unknown - likely pathogenic g.153785853C>T - - - GATAD2B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1300G>T r.(?) p.(Glu434Ter) Unknown - VUS g.153785845C>A g.153813369C>A GATAD2B(NM_020699.2):c.1300G>T (p.(Glu434Ter)) - GATAD2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1408C>T r.(?) p.(Gln470Ter) Unknown - pathogenic g.153785737G>A g.153813261G>A - - GATAD2B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1408C>T r.(?) p.(Gln470*) Unknown - likely pathogenic g.153785737G>A g.153813261G>A NM_020699.2:c.1408C>T (Gln470*) - GATAD2B_000008 candidate variant PubMed: de Ligt 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 23033978-Trio69 PubMed: de Ligt 2012 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 8 c.1411C>T r.(?) p.(Gln471*) Paternal (confirmed) - pathogenic (dominant) g.153785734G>A g.153813258G>A - - GATAD2B_000030 paternal mosaicism (0.15) PubMed: Vera 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - ID gene panel NDD P5 PubMed: Vera 2020 - M - France white - - - - 1 Johan den Dunnen
+/. 8 c.1417C>T r.(?) p.(Gln473*) Unknown - pathogenic (dominant) g.153785728G>A g.153813252G>A - - GATAD2B_000029 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - clinical WES/ID panel NDD P14 PubMed: Vera 2020 - M - Belgium Bakhtiari-Iran - - - - 1 Johan den Dunnen
+/. 9 c.1429C>T r.(?) p.(Gln477*) Unknown - pathogenic (dominant) g.153784599G>A g.153812123G>A - - GATAD2B_000027 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD P12 PubMed: Vera 2020 - F - Germany white - - - - 1 Johan den Dunnen
+/. 9 c.1432C>T r.(?) p.(Arg478*) Unknown - pathogenic (dominant) g.153784596G>A g.153812120G>A - - GATAD2B_000026 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - ID gene panel NDD P9 PubMed: Vera 2020 - M - France white - - - - 1 Johan den Dunnen
+?/. - c.1438C>T r.(?) p.(Gln480*) Unknown - likely pathogenic g.153784590G>A g.153812114G>A - - GATAD2B_000016 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. 9 c.1438C>T r.(?) p.(Gln480*) Unknown - pathogenic (dominant) g.153784590G>A g.153812114G>A - - GATAD2B_000016 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD P17 PubMed: Vera 2020 - F - Germany - - - - - 1 Johan den Dunnen
?/. - c.1466C>T r.(?) p.(Thr489Met) Unknown - VUS g.153784562G>A - GATAD2B(NM_020699.2):c.1466C>T (p.(Thr489Met)) - GATAD2B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1477G>T r.(?) p.(Val493Leu) Unknown - likely benign g.153784551C>A - GATAD2B(NM_020699.2):c.1477G>T (p.(Val493Leu)) - GATAD2B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1537C>T r.(?) p.(Gln513*) Unknown - pathogenic (dominant) g.153784318G>A g.153811842G>A - - GATAD2B_000025 - PubMed: Vera 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD P6 PubMed: Vera 2020 - M - France white - - - - 1 Johan den Dunnen
-?/. - c.*5150T>G r.(=) p.(=) Unknown - likely benign g.153777503A>C - GATAD2B:c.*5150T>G - GATAD2B_000044 - PubMed: Maranhao 2015 - - Germline - 9/25 families - - - DNA SEQ-NG - WES retinal disease - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - 9 LOVD
-?/. - c.*5154T>G r.(=) p.(=) Unknown - likely benign g.153777499A>C - GATAD2B:c.*5154T>G - GATAD2B_000043 - PubMed: Maranhao 2015 - - Germline - 9/25 families - - - DNA SEQ-NG - WES retinal disease - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - 9 LOVD
-?/. - c.*5158A>G r.(=) p.(=) Unknown - likely benign g.153777495T>C - GATAD2B:c.*5158A>G - GATAD2B_000042 - PubMed: Maranhao 2015 - - Germline - 12/25 families - - - DNA SEQ-NG - WES retinal disease - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - 12 LOVD
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