BCL11A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 147996	GRCh38/hg38 2p16.1(chr2:55570578-60519844)x1	BCL11A, CCDC85A +83 more	Copy number loss	See cases	GPathogenic
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 60178	GRCh38/hg38 2p16.1-15(chr2:59224998-61621710)x1	BCL11A, C2orf74 +85 more	Copy number loss	See cases	GPathogenic
Select item 57148	GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1	B3GNT2, BCL11A +118 more	Copy number loss	See cases	GPathogenic
Select item 152014	GRCh38/hg38 2p16.1(chr2:59799150-60779341)x3	BCL11A, LOC110120669 +41 more	Copy number gain	See cases	GUncertain significance
Select item 58870	GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3	BCL11A, C2orf74 +96 more	Copy number gain	See cases	GUncertain significance
Select item 150334	GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3	BCL11A, C2orf74 +72 more	Copy number gain	See cases	GLikely pathogenic
Select item 148468	GRCh38/hg38 2p16.1-15(chr2:60359313-61775405)x3	BCL11A, C2orf74 +73 more	Copy number gain	See cases	GUncertain significance
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 1030618	NM_018014.4(BCL11A):c.2303C>G (p.Ser768Trp)	BCL11A (S768W +13 more)	Single nucleotide variant (missense variant +2 more)	Dias-Logan syndrome	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 1709732	NM_001363864.1(BCL11A):c.2281-2A>C	BCL11A	Single nucleotide variant (splice acceptor variant)	Dias-Logan syndrome	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 2672314	NM_022893.4(BCL11A):c.1675_*1445del (p.Ser559fs)	BCL11A (S328fs +6 more)	Deletion (frameshift variant +2 more)	Intellectual disability	GLikely pathogenic
Select item 2442747	NM_022893.4(BCL11A):c.2471G>A (p.Ser824Asn)	BCL11A (S593N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582060	NM_022893.4(BCL11A):c.2441C>T (p.Thr814Ile)	BCL11A (T583I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310190	NM_022893.4(BCL11A):c.2401_2403del (p.Lys801del)	BCL11A (K767del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
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 2497886	NM_022893.4(BCL11A):c.2362C>T (p.His788Tyr)	BCL11A (H557Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1313401	NM_022893.4(BCL11A):c.2337T>G (p.Cys779Trp)	BCL11A (C745W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662857	NM_022893.4(BCL11A):c.2294C>T (p.Thr765Met)	BCL11A (T534M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576810	NM_022893.4(BCL11A):c.2256G>C (p.Lys752Asn)	BCL11A (K521N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 985399	NM_022893.4(BCL11A):c.2194dup (p.Arg732fs)	BCL11A (R698fs +1 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2439486	NM_022893.4(BCL11A):c.2188C>A (p.Pro730Thr)	BCL11A (P399T +9 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2265697	NM_022893.4(BCL11A):c.2186G>A (p.Gly729Asp)	BCL11A (G695D +9 more)	Single nucleotide variant (missense variant +1 more)	BCL11A-related condition +1 more	GUncertain significance
Select item 2268059	NM_022893.4(BCL11A):c.2161A>G (p.Ser721Gly)	BCL11A (S542G +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1683715	NM_022893.4(BCL11A):c.2138G>A (p.Arg713His)	BCL11A (R679H +1 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2430881	NM_022893.4(BCL11A):c.2104C>G (p.Pro702Ala)	BCL11A (P371A +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2484204	NM_022893.4(BCL11A):c.2093G>A (p.Arg698His)	BCL11A (R367H +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1276488	NM_022893.4(BCL11A):c.2088T>C (p.Ser696=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2504833	NM_022893.4(BCL11A):c.2069A>G (p.His690Arg)	BCL11A (H359R +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2136091	NM_022893.4(BCL11A):c.2041C>A (p.Gln681Lys)	BCL11A (Q570K +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2526205	NM_022893.4(BCL11A):c.2035T>G (p.Ser679Ala)	BCL11A (S645A +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2228667	NM_022893.4(BCL11A):c.1929C>G (p.Asp643Glu)	BCL11A (D412E +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 501280	NM_022893.4(BCL11A):c.1892C>A (p.Pro631His)	BCL11A (P631H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1251950	NM_022893.4(BCL11A):c.1847del (p.Gly616fs)	BCL11A (G582fs +1 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 523833	NM_022893.4(BCL11A):c.1831G>T (p.Glu611Ter)	BCL11A (E611* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 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 253304	NM_022893.4(BCL11A):c.1775_1776insTGG (p.Gly592dup)	BCL11A	Insertion (inframe_insertion +1 more)	Dias-Logan syndrome	GPathogenic
Select item 834057	NM_022893.4(BCL11A):c.1755C>A (p.Cys585Ter)	BCL11A (C585* +1 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 504051	NM_022893.4(BCL11A):c.1735_1741del (p.Glu579fs)	BCL11A (E545fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1703361	NM_022893.4(BCL11A):c.1735G>A (p.Glu579Lys)	BCL11A (E545K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2626889	NM_022893.4(BCL11A):c.1715G>A (p.Arg572His)	BCL11A (R241H +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2294550	NM_022893.4(BCL11A):c.1710T>A (p.His570Gln)	BCL11A (H570Q +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1199226	NM_022893.4(BCL11A):c.1675A>G (p.Ser559Gly)	BCL11A (S525G +1 more)	Single nucleotide variant (missense variant +1 more)	BCL11A-related intellectual disability	GLikely pathogenic
Select item 976351	NM_022893.4(BCL11A):c.1663A>T (p.Met555Leu)	BCL11A (M521L +1 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 2499467	NM_022893.4(BCL11A):c.1656C>T (p.Leu552=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	Dias-Logan syndrome +1 more	GUncertain significance
Select item 977620	NM_022893.4(BCL11A):c.1633del (p.Asp545fs)	BCL11A (D511fs +1 more)	Deletion (frameshift variant +1 more)	Global developmental delay	GPathogenic
Select item 632585	NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs)	BCL11A (V500fs +1 more)	Deletion (frameshift variant +1 more)	Congenital cerebellar hypoplasia +1 more	GPathogenic/Likely pathogenic
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 992874	NM_022893.4(BCL11A):c.1616_1622dup (p.Ala542fs)	BCL11A (A508fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2577994	NM_022893.4(BCL11A):c.1616_1619del (p.Glu539fs)	BCL11A (E208fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 750600	NM_022893.4(BCL11A):c.1599C>T (p.Val533=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2682436	NM_022893.4(BCL11A):c.1595C>G (p.Ala532Gly)	BCL11A (A201G +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735294	NM_022893.4(BCL11A):c.1595C>T (p.Ala532Val)	BCL11A (A532V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1804885	NM_022893.4(BCL11A):c.1589G>T (p.Arg530Leu)	BCL11A (R199L +8 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 735463	NM_022893.4(BCL11A):c.1563G>A (p.Ala521=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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
Select item 1309212	NM_022893.4(BCL11A):c.1547G>A (p.Gly516Glu)	BCL11A (G482E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3063676	NM_022893.4(BCL11A):c.1533G>A (p.Val511=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1297023	NM_022893.4(BCL11A):c.1519del (p.Glu507fs)	BCL11A (E473fs +1 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 2500886	NM_022893.4(BCL11A):c.1504G>T (p.Glu502Ter)	BCL11A (E171* +9 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 1800984	NM_022893.4(BCL11A):c.1493A>G (p.Glu498Gly)	BCL11A (E167G +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2570606	NM_022893.4(BCL11A):c.1486G>T (p.Glu496Ter)	BCL11A (E344* +9 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GPathogenic
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 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 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 2664349	NM_022893.4(BCL11A):c.1442del (p.Glu481fs)	BCL11A (E150fs +8 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 3024309	NM_022893.4(BCL11A):c.1417G>T (p.Glu473Ter)	BCL11A (E142* +9 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GPathogenic
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 1712838	NM_022893.4(BCL11A):c.1351G>A (p.Gly451Ser)	BCL11A (G120S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1177341	NM_022893.4(BCL11A):c.1345del (p.Glu449fs)	BCL11A (E415fs +1 more)	Deletion (intron variant +1 more)	BCL11A-related BAFopathy	GPathogenic
Select item 1810468	NM_022893.4(BCL11A):c.1342C>T (p.Pro448Ser)	BCL11A (P217S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1697195	NM_022893.4(BCL11A):c.1322_1330dup (p.Ser443_Thr444insSerLeuSer)	BCL11A	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 719898	NM_022893.4(BCL11A):c.1311G>A (p.Lys437=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2136059	NM_022893.4(BCL11A):c.1295C>T (p.Ser432Phe)	BCL11A (S101F +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 524144	NM_022893.4(BCL11A):c.1285_1288dup (p.Lys430fs)	BCL11A (K396fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 976211	NM_022893.4(BCL11A):c.1283T>A (p.Met428Lys)	BCL11A (M394K +1 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 1686500	NM_022893.4(BCL11A):c.1244C>G (p.Thr415Ser)	BCL11A (T381S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 795184	NM_022893.4(BCL11A):c.1161A>G (p.Lys387=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 748596	NM_022893.4(BCL11A):c.1149C>A (p.Gly383=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1301373	NM_022893.4(BCL11A):c.1135del (p.Cys379fs)	BCL11A (C345fs +1 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GLikely pathogenic

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