"BCL11A-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2265697	NM_022893.4(BCL11A):c.2186G>A (p.Gly729Asp)	BCL11A (G695D +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3057664	NM_022893.4(BCL11A):c.2082C>T (p.Asn694=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related condition	GLikely benign
Select item 3044508	NM_022893.4(BCL11A):c.1971G>A (p.Ser657=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related condition	GLikely benign
Select item 3054440	NM_022893.4(BCL11A):c.1962C>T (p.Asn654=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related condition	GLikely benign
Select item 772844	NM_022893.4(BCL11A):c.1716C>T (p.Arg572=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related condition +1 more	GBenign/Likely benign
Select item 2650963	NM_022893.4(BCL11A):c.1545C>T (p.Phe515=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related condition +1 more	GLikely benign
Select item 735121	NM_022893.4(BCL11A):c.1467G>T (p.Glu489Asp)	BCL11A (E489D +1 more)	Single nucleotide variant (missense variant +1 more)	BCL11A-related condition +1 more	GLikely benign
Select item 3035068	NM_022893.4(BCL11A):c.1077C>A (p.Pro359=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related condition	GLikely benign
Select item 2628982	NM_022893.4(BCL11A):c.1015A>G (p.Met339Val)	BCL11A (M187V +6 more)	Single nucleotide variant (missense variant +1 more)	BCL11A-related condition	GUncertain significance
Select item 2633755	NM_022893.4(BCL11A):c.588A>C (p.Arg196Ser)	BCL11A (R110S +6 more)	Single nucleotide variant (missense variant +1 more)	BCL11A-related condition	GUncertain significance
Select item 3033311	NM_022893.4(BCL11A):c.488-1G>C	BCL11A	Single nucleotide variant (splice acceptor variant)	BCL11A-related condition	GLikely pathogenic
Select item 3042356	NM_022893.4(BCL11A):c.294C>T (p.Pro98=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related condition	GLikely benign
Select item 750361	NM_022893.4(BCL11A):c.222C>T (p.Ser74=)	BCL11A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 712927	NM_022893.4(BCL11A):c.85G>C (p.Asp29His)	BCL11A (D29H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign