"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "BCL11A"[ge - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2650959	NM_138552.1:c.2376G>C	BCL11A (R149P +6 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 3025869	NM_138552.1:c.2323C>T	BCL11A (R420W +6 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 992483	NM_018014.4(BCL11A):c.2231-5dup	BCL11A	Duplication (intron variant)	Dias-Logan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2650960	NM_022893.4(BCL11A):c.2373G>A (p.Thr791=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650961	NM_022893.4(BCL11A):c.2147C>G (p.Thr716Arg)	BCL11A (T385R +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 493278	NM_022893.4(BCL11A):c.1925T>G (p.Phe642Cys)	BCL11A (F642C +1 more)	Single nucleotide variant (intron variant +1 more)	Dias-Logan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2650962	NM_022893.4(BCL11A):c.1795G>A (p.Asp599Asn)	BCL11A (D268N +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1298808	NM_022893.4(BCL11A):c.1473C>T (p.Asp491=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650964	NM_022893.4(BCL11A):c.1467G>C (p.Glu489Asp)	BCL11A (E158D +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 932700	NM_022893.4(BCL11A):c.1397TGG[3] (p.Val467dup)	BCL11A	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3026863	NM_022893.4(BCL11A):c.1375G>A (p.Ala459Thr)	BCL11A (A128T +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 711798	NM_022893.4(BCL11A):c.1308C>T (p.Val436=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 788694	NM_022893.4(BCL11A):c.1119G>A (p.Pro373=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1675783	NM_022893.4(BCL11A):c.1118C>T (p.Pro373Leu)	BCL11A (P339L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672816	NM_022893.4(BCL11A):c.1089G>A (p.Leu363=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026556	NM_022893.4(BCL11A):c.662G>A (p.Cys221Tyr)	BCL11A (C110Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2650965	NM_022893.4(BCL11A):c.576T>G (p.Thr192=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650966	NM_022893.4(BCL11A):c.386-9348C>T	BCL11A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2650967	NM_022893.4(BCL11A):c.385+37207C>T	BCL11A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2650968	NM_022893.4(BCL11A):c.385+29493A>G	BCL11A (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2650969	NM_022893.4(BCL11A):c.385+7591G>A	BCL11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 493279	NM_022893.4(BCL11A):c.222C>A (p.Ser74Arg)	BCL11A (S74R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701379	NM_022893.4(BCL11A):c.184A>C (p.Ile62Leu)	BCL11A (I62L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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Items: 26