Related gene-specific medical variations for Gene (Select 53335) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062626	GRCh37/hg19 2p16.1(chr2:60693746-60802307)x1	BCL11A	Copy number loss	not specified	GPathogenic
Select item 2672192	NM_022893.4(BCL11A):c.791C>G (p.Pro264Arg)	BCL11A (P112R +6 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2664349	NM_022893.4(BCL11A):c.1442del (p.Glu481fs)	BCL11A (E150fs +8 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 2439491	NM_022893.4(BCL11A):c.1625C>A (p.Ala542Asp)	BCL11A (A211D +9 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2439490	NM_022893.4(BCL11A):c.1727C>T (p.Ala576Val)	BCL11A (A245V +9 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2439489	NM_022893.4(BCL11A):c.1816G>A (p.Gly606Ser)	BCL11A (G275S +9 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2439488	NM_022893.4(BCL11A):c.127C>T (p.His43Tyr)	BCL11A (H43Y +1 more)	Single nucleotide variant (missense variant)	Dias-Logan syndrome	GUncertain significance
Select item 2439487	NM_022893.4(BCL11A):c.134T>G (p.Leu45Arg)	BCL11A (L45R +1 more)	Single nucleotide variant (missense variant)	Dias-Logan syndrome	GUncertain significance
Select item 2430008	NM_022893.4(BCL11A):c.1474G>A (p.Glu492Lys)	BCL11A (E161K +9 more)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GLikely benign
Select item 1700170	NM_022893.4(BCL11A):c.657del (p.Glu220fs)	BCL11A (E186fs +1 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696473	NM_022893.4(BCL11A):c.1117C>T (p.Pro373Ser)	BCL11A (P339S +1 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 1342337	NM_022893.4(BCL11A):c.1846_1847delinsA (p.Gly616fs)	BCL11A (G582fs +1 more)	Indel (frameshift variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 987335	NM_022893.4(BCL11A):c.370C>T (p.Gln124Ter)	BCL11A (Q124*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987093	NM_022893.4(BCL11A):c.55C>T (p.Pro19Ser)	BCL11A (P19S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 987092	NM_022893.4(BCL11A):c.55_56insT (p.Pro19fs)	BCL11A (P19fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 987091	NM_022893.4(BCL11A):c.55+1_55+2insCCCAA	BCL11A	Insertion (splice donor variant)	not provided	GLikely pathogenic
Select item 987090	NM_022893.4(BCL11A):c.55+5del	BCL11A	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 987079	NM_022893.4(BCL11A):c.1078del (p.Leu360fs)	BCL11A (L326fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 986806	NM_022893.4(BCL11A):c.1555_1556del (p.Leu519fs)	BCL11A (L485fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic