"BCL11B-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057441	NM_138576.4(BCL11B):c.*2C>T	BCL11B	Single nucleotide variant (3 prime UTR variant)	BCL11B-related disorder	GLikely benign
Select item 2633130	NM_138576.4(BCL11B):c.2595del (p.Tyr866fs)	BCL11B (Y794fs +3 more)	Deletion (frameshift variant)	BCL11B-related disorder	GLikely pathogenic
Select item 2632319	NM_138576.4(BCL11B):c.2458G>A (p.Gly820Ser)	BCL11B (G748S +3 more)	Single nucleotide variant (missense variant)	BCL11B-related disorder	GUncertain significance
Select item 2636592	NM_138576.4(BCL11B):c.2433G>C (p.Leu811Phe)	BCL11B (L739F +3 more)	Single nucleotide variant (missense variant)	BCL11B-related disorder	GUncertain significance
Select item 1535801	NM_138576.4(BCL11B):c.2349C>G (p.Gly783=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1115436	NM_138576.4(BCL11B):c.2349C>T (p.Gly783=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1489084	NM_138576.4(BCL11B):c.2317G>A (p.Gly773Arg)	BCL11B (G701R +3 more)	Single nucleotide variant (missense variant)	BCL11B-related disorder +1 more	GUncertain significance
Select item 1450647	NM_138576.4(BCL11B):c.2286C>T (p.Gly762=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2052139	NM_138576.4(BCL11B):c.2145C>T (p.Tyr715=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2631121	NM_138576.4(BCL11B):c.1988_1999dup (p.Pro666_Gly667insGluProPhePro)	BCL11B	Duplication (inframe_insertion)	BCL11B-related disorder	GUncertain significance
Select item 218836	NM_138576.4(BCL11B):c.1901_1906dup (p.Gly634_Asp635dup)	BCL11B	Duplication (inframe_insertion)	BCL11B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1167222	NM_138576.4(BCL11B):c.1905C>T (p.Asp635=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1024853	NM_138576.4(BCL11B):c.1698C>T (p.Arg566=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1545113	NM_138576.4(BCL11B):c.1656C>T (p.Pro552=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1668961	NM_138576.4(BCL11B):c.1603GAG[7] (p.Glu542_Glu543del)	BCL11B	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 2756767	NM_138576.4(BCL11B):c.1563G>C (p.Glu521Asp)	BCL11B (E450D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1568539	NM_138576.4(BCL11B):c.1521C>T (p.Gly507=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2628456	NM_138576.4(BCL11B):c.1465G>A (p.Asp489Asn)	BCL11B (D417N +3 more)	Single nucleotide variant (missense variant)	BCL11B-related disorder	GUncertain significance
Select item 2630411	NM_138576.4(BCL11B):c.1158C>A (p.Asn386Lys)	BCL11B (N314K +3 more)	Single nucleotide variant (missense variant)	BCL11B-related disorder	GLikely pathogenic
Select item 2067498	NM_138576.4(BCL11B):c.1143C>T (p.Ser381=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 713998	NM_138576.4(BCL11B):c.1032C>G (p.Ala344=)	BCL11B	Single nucleotide variant (synonymous variant)	BCL11B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 734188	NM_138576.4(BCL11B):c.933G>T (p.Pro311=)	BCL11B	Single nucleotide variant (synonymous variant)	BCL11B-related disorder +1 more	GLikely benign
Select item 1091388	NM_138576.4(BCL11B):c.885G>C (p.Thr295=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 708601	NM_138576.4(BCL11B):c.543C>T (p.Leu181=)	BCL11B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1985779	NM_138576.4(BCL11B):c.525C>T (p.Gly175=)	BCL11B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1563572	NM_138576.4(BCL11B):c.366C>T (p.Asp122=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1566625	NM_138576.4(BCL11B):c.293C>T (p.Pro98Leu)	BCL11B (P97L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1982503	NM_138576.4(BCL11B):c.48G>T (p.Glu16Asp)	BCL11B (E16D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 28