Full data view for gene BCL11A

Information The variants shown are described using the NM_022893.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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     

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Age at death     

VIP     

Data_av     

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Owner     
?/. - c.-1300776_*33087131dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_4_ c.(?_-1)_(*1_?)del r.? p.? Unknown - pathogenic g.(?_60687539)_(60780405_?)del - chr2:60687539-?_60780405+?del - BCL11A_000048 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4670 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. _1 c.-228_*3210{2} r.? p.? Unknown - VUS g.60320001_62035000dup g.60092866_61807865dup - - PEX13_000020 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0035 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
+?/. - c.2T>G r.(?) p.(Met1?) Unknown - likely pathogenic g.60780404A>C g.60553269A>C BCL11A(NM_022893.4):c.2T>G (p.M1?) - BCL11A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.55_55+5delinsTTGCCCAATAA r.spl p.? Unknown - likely pathogenic g.60780346_60780351delinsTTATTGGGCAA g.60553211_60553216delinsTTATTGGGCAA - - BCL11A_000040 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-?/. - c.55+406G>T r.(=) p.(=) Unknown - likely benign g.60779945C>A - BCL11A(NM_022893.4):c.55+406G>T - BCL11A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.139A>C r.(?) p.(Thr47Pro) Unknown - pathogenic g.60773352T>G g.60546217T>G - - BCL11A_000022 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. 2 c.139A>C r.(?) p.(Thr47Pro) Parent #1 - pathogenic g.60773352T>G g.60546217T>G - - BCL11A_000022 - PubMed: Dias 2016, Journal: Dias 2016 - - De novo - - - - - DNA, RNA IHC, PCR, SEQ, SEQ-NG, SEQ-NG-I, Western - - ID - PubMed: Dias 2016, Journal: Dias 2016 De novo, individual 1 F - - - - - - - 1 Jamie Zeegers
+/. 2 c.143G>T r.(?) p.(Cys48Phe) Unknown - pathogenic g.60773348C>A g.60546213C>A - - BCL11A_000021 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. 2 c.143G>T r.(?) p.(Cys48Phe) Parent #1 - pathogenic g.60773348C>A g.60546213C>A - - BCL11A_000021 - PubMed: Dias 2016, Journal: Dias 2016 - - De novo - - - - - DNA, RNA IHC, PCR, SEQ, SEQ-NG, SEQ-NG-I, Western - - ID - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 2 M - - - - - - - 1 Jamie Zeegers
?/. - c.152G>T r.(?) p.(Cys51Phe) Unknown - VUS g.60773339C>A - - - BCL11A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.154C>T r.(?) p.(Gln52*) Parent #1 - pathogenic g.60773337G>A g.60546202G>A - - BCL11A_000026 - PubMed: Dias 2016, Journal: Dias 2016 - - De novo - - - - - DNA, RNA IHC, PCR, SEQ, SEQ-NG, SEQ-NG-I, Western - - ID - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 8 F - - - - - - - 1 Jamie Zeegers
+?/. - c.154C>T r.(?) p.(Gln52*) Unknown - likely pathogenic (dominant) g.60773337G>A g.60546202G>A NM_018014.3:c.154C>T - BCL11A_000026 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2653.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.184del r.(?) p.(Ile62Phefs*16) Unknown ACMG likely pathogenic (dominant) g.60773307del g.60546172del - - BCL11A_000050 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - ID 149008 - - F no Germany - - - - - 1 Andreas Laner
+/. 2 c.193G>T r.(?) p.(Glu65*) Parent #1 - pathogenic g.60773298C>A g.60546163C>A - - BCL11A_000027 - PubMed: Dias 2016, Journal: Dias 2016 - - De novo - - - - - DNA, RNA IHC, PCR, SEQ, SEQ-NG, SEQ-NG-I, Western - - ID - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 9 M - - - - - - - 1 Jamie Zeegers
+/. 2 c.198C>A r.(?) p.(His66Gln) Unknown - pathogenic g.60773293G>T g.60546158G>T - - BCL11A_000023 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. 2 c.198C>A r.(?) p.(His66Gln) Parent #1 - pathogenic g.60773293G>T g.60546158G>T - - BCL11A_000023 - PubMed: Dias 2016, Journal: Dias 2016 - - De novo - - - - - DNA, RNA IHC, PCR, SEQ, SEQ-NG, SEQ-NG-I, Western - - ID - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 3 F - - - - - - - 1 Jamie Zeegers
+?/. 2 c.270C>G r.(?) p.(Ile90Met) Unknown ACMG likely pathogenic (dominant) g.60773221G>C g.60546086G>C - - BCL11A_000057 ACMG PS2, PM2, PP4 PubMed: Chen 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat84 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.292C>A r.(?) p.(Pro98Thr) Unknown - VUS g.60773199G>T g.60546064G>T BCL11A(NM_018014.3):c.292C>A (p.(Pro98Thr)) - BCL11A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.370C>T r.(?) p.(Gln124*) Unknown - pathogenic g.60773121G>A g.60545986G>A - - BCL11A_000046 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. 4 c.512_519del r.(?) p.(Thr171AsnfsTer63) Unknown ACMG pathogenic (dominant) g.60689532_60689539del g.60462397_60462404del - - BCL11A_000056 ACMG PVS1, PM2, PP4 PubMed: Chen 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat85 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.525C>A r.(?) p.(Cys175Ter) Unknown - pathogenic g.60689522G>T g.60462387G>T BCL11A(NM_022893.4):c.525C>A (p.C175*) - BCL11A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.529C>T r.(?) p.(Gln177*) Parent #1 - pathogenic g.60689518G>A g.60462383G>A - - BCL11A_000024 - PubMed: Dias 2016, Journal: Dias 2016 - - De novo - - - - - DNA, RNA IHC, PCR, SEQ, SEQ-NG, SEQ-NG-I, Western - - ID - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 4 F - - - - - - - 1 Jamie Zeegers
+?/. - c.558G>T r.(?) p.(Leu186Phe) Unknown - likely pathogenic g.60689489C>A - BCL11A(NM_022893.4):c.558G>T (p.L186F) - BCL11A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.623C>T r.(?) p.(Thr208Ile) Unknown - VUS g.60689424G>A - BCL11A(NM_022893.3):c.623C>T (p.(Thr208Ile)) - BCL11A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.725G>A r.(?) p.(Arg242Lys) Unknown - VUS g.60689322C>T - BCL11A(NM_022893.3):c.725G>A (p.(Arg242Lys)) - BCL11A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.793dup r.(?) p.(Leu265Profs*3) Unknown - pathogenic g.60689260dup g.60462125dup 792_793insC - BCL11A_000031 - PubMed: Iossifov 2012, PubMed: Dias 2016 - - De novo - - - - - DNA SEQ - - autism 27453576-Ind11 PubMed: Iossifov 2012, PubMed: Dias 2016 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.793_794del r.(?) p.(Leu265Valfs*2) Unknown - likely pathogenic g.60689253_60689254del - - - BCL11A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.794del r.(?) p.(Leu265ArgfsTer15) Unknown - pathogenic g.60689253del - BCL11A(NM_022893.3):c.794delT (p.L265Rfs*15) - BCL11A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.794del r.(?) p.(Leu265ArgfsTer15) Unknown - pathogenic g.60689253del - - - BCL11A_000047 - - - rs1676346981 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1078del r.(?) p.(Leu360Serfs*61) Unknown - pathogenic g.60688975del g.60461840del 1078delC - BCL11A_000039 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+/. - c.1078dup r.(?) p.(Leu360ProfsTer212) Unknown - pathogenic g.60688975dup - - - BCL11A_000051 - - - rs768799046 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1308C>T r.(?) p.(Val436=) Unknown - likely benign g.60688739G>A - BCL11A(NM_022893.3):c.1308C>T (p.V436=) - BCL11A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1325del r.(?) p.(Leu442Profs*37) Unknown - pathogenic g.60688722del g.60461587del c.1325_1325de - BCL11A_000030 - PubMed: De Rubeis 2014, PubMed: Dias 2016 - - Unknown - - - - - DNA SEQ - - autism 25533962-Pat10 PubMed: De Rubeis 2014, PubMed: Dias 2016 - F - - - - - - - 1 Johan den Dunnen
+/. 4 c.1345del r.(?) p.(Glu449AsnfsTer30) Unknown ACMG pathogenic (dominant) g.60688703del g.60461568del - - BCL11A_000055 ACMG PVS1, PS2, PM2, PP4 PubMed: Chen 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat86 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1416C>G r.(?) p.(Ser472Arg) Unknown - VUS g.60688631G>C g.60461496G>C BCL11A(NM_022893.3):c.1416C>G (p.(Ser472Arg)) - BCL11A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1446C>G r.(?) p.(Asn482Lys) Unknown - VUS g.60688601G>C - BCL11A(NM_022893.3):c.1446C>G (p.(Asn482Lys)) - BCL11A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1453G>T r.(?) p.(Glu485Ter) Unknown - likely pathogenic g.60688594C>A g.60461459C>A - - BCL11A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1461_1466dup r.(?) p.(Glu488_Glu489dup) Unknown - VUS g.60688586_60688591dup - BCL11A(NM_022893.4):c.1461_1466dup (p.(Glu488_Glu489dup)) - BCL11A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1498G>A r.(?) p.(Glu500Lys) Unknown - likely benign g.60688549C>T - BCL11A(NM_022893.3):c.1498G>A (p.(Glu500Lys)) - BCL11A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1540_1544dup r.(?) p.(Phe515Leufs*5) Parent #1 - pathogenic g.60688503_60688507dup g.60461368_60461372dup 1545delinsGGCTTC - BCL11A_000028 - PubMed: Dias 2016, Journal: Dias 2016 - - De novo - - - - - DNA, RNA IHC, PCR, SEQ, SEQ-NG, SEQ-NG-I, Western - - ID - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 7 F - - - - - - - 1 Jamie Zeegers
-?/. - c.1583G>T r.(?) p.(Ser528Ile) Unknown - likely benign g.60688464C>A - BCL11A(NM_022893.4):c.1583G>T (p.(Ser528Ile)) - BCL11A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1697T>G r.(?) p.(Leu566Arg) Unknown - VUS g.60688350A>C - BCL11A(NM_022893.4):c.1697T>G (p.L566R) - BCL11A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1727C>T r.(?) p.(Ala576Val) Unknown - VUS g.60688320G>A - BCL11A(NM_022893.3):c.1727C>T (p.(Ala576Val)) - BCL11A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1775_1776insTGGCTCAGCGG r.(?) p.(Glu593Glyfs*9) Parent #1 - pathogenic g.60688274_60688275insCTGAGCCACCG g.60461139_60461140insCTGAGCCACCG - - BCL11A_000029 - PubMed: Dias 2016, Journal: Dias 2016 - - De novo - - - - - DNA, RNA IHC, PCR, SEQ, SEQ-NG, SEQ-NG-I, Western - - ID - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 6 F - - - - - - - 1 Jamie Zeegers
-?/. - c.1925T>G r.(?) p.(Phe642Cys) Unknown - likely benign g.60688122A>C - BCL11A(NM_022893.4):c.1925T>G (p.(Phe642Cys)) - BCL11A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.2035_2036del r.(?) p.(Ser679Glnfs*47) Parent #1 - pathogenic g.60688012_60688013del g.60460877_60460878del 2035_2037delinsC - BCL11A_000025 - PubMed: Dias 2016, Journal: Dias 2016 - - De novo - - - - - DNA, RNA IHC, PCR, SEQ, SEQ-NG, SEQ-NG-I, Western - - ID - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 5 F - - - - - - - 1 Jamie Zeegers
-/. - c.2088T>C r.(?) p.(Ser696=) Unknown - benign g.60687959A>G g.60460824A>G BCL11A(NM_022893.4):c.2088T>C (p.S696=) - BCL11A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2212G>A r.(?) p.(Gly738Ser) Unknown - VUS g.60687835C>T g.60460700C>T - - BCL11A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2G>T r.(=) p.(=) Unknown - VUS g.60687537C>A - BCL11A(NM_022893.4):c.*2G>T - BCL11A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7733dup r.(?) p.(=) Unknown - likely benign g.60679808dup g.60452673dup BCL11A(NM_001363864.1):c.2281-5dup, BCL11A(NM_018014.4):c.2231-5dupT - BCL11A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7733dup r.(?) p.(=) Unknown - likely benign g.60679808dup - BCL11A(NM_001363864.1):c.2281-5dup, BCL11A(NM_018014.4):c.2231-5dupT - BCL11A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7804G>C r.(=) p.(=) Unknown - VUS g.60679735C>G - BCL11A(NM_018014.4):c.2297G>C (p.G766A) - BCL11A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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