Related gene-specific medical variations for Gene (Select 64919) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067947	NM_138576.4(BCL11B):c.1644C>A (p.Asn548Lys)	BCL11B (N476K +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 49	GUncertain significance
Select item 2439492	NM_138576.4(BCL11B):c.93AGA[1] (p.Glu32del)	BCL11B (E31del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2430038	NM_138576.4(BCL11B):c.784_820del (p.Arg262fs)	BCL11B (R190fs +3 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 1806467	NM_138576.4(BCL11B):c.1206del (p.Phe403fs)	BCL11B (F331fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GLikely pathogenic
Select item 1323977	NM_138576.4(BCL11B):c.1097_1140delinsCAGC (p.Arg366fs)	BCL11B (R294fs +3 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1184944	NM_138576.4(BCL11B):c.1916_1917dup (p.Gly640fs)	BCL11B (G568fs +3 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 987495	NM_138576.4(BCL11B):c.1460_1485del (p.Arg487fs)	BCL11B (R415fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987119	NM_138576.4(BCL11B):c.2472C>A (p.Tyr824Ter)	BCL11B (Y752* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

ClinVar