Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs750610248
rs750610248
BCL11B
0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
IMMUNODEFICIENCY 49 		0.800 1.000 0 2016 2018
dbSNP: rs1314314373
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 2003 2016
dbSNP: rs1314314373
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 19 2003 2016
dbSNP: rs1314314373
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 2003 2016
dbSNP: rs1314314373
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 19 2003 2016
dbSNP: rs1555384301
rs1555384301
BCL11B
1.000 14 99257660 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 2003 2016
dbSNP: rs750610248
rs750610248
BCL11B
0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.700 1.000 1 2016 2016
dbSNP: rs750610248
rs750610248
BCL11B
0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 1.000 1 2016 2016
dbSNP: rs1555376017
rs1555376017
BCL11B
1.000 14 99174165 frameshift variant C/- delins
CUI: C4748152
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 		0.700 0
dbSNP: rs1555376035
rs1555376035
BCL11B
1.000 14 99174379 frameshift variant -/GTGTGGCT delins
CUI: C4748152
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 		0.700 0
dbSNP: rs1555376234
rs1555376234
BCL11B
1.000 14 99175341 stop gained C/A snv
CUI: C4748152
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 		0.700 0
dbSNP: rs1555384300
rs1555384300
BCL11B
1.000 14 99257656 frameshift variant C/- del
CUI: C4748152
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 		0.700 0
dbSNP: rs888230251
rs888230251
BCL11B
0.925 14 99174415 missense variant G/A;C snv
CUI: C4748152
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 		0.700 0
dbSNP: rs888230251
rs888230251
BCL11B
0.925 14 99174415 missense variant G/A;C snv
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
IMMUNODEFICIENCY 49 		0.700 0