ClinVar for Gene (Select 53335) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260634	NM_022893.4(BCL11A):c.2105C>T (p.Pro702Leu)	BCL11A (P371L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260633	NM_022893.4(BCL11A):c.2493T>G (p.Asp831Glu)	BCL11A (D600E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260632	NM_022893.4(BCL11A):c.2212G>A (p.Gly738Ser)	BCL11A (G586S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255198	NM_022893.4(BCL11A):c.384A>G (p.Ala128=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 3254642	NM_022893.4(BCL11A):c.230T>G (p.Leu77Ter)	BCL11A (L25* +1 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GPathogenic
Select item 3252362	NM_022893.4(BCL11A):c.2251T>C (p.Phe751Leu)	BCL11A (F520L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252183	NM_022893.4(BCL11A):c.539C>T (p.Thr180Ile)	BCL11A (T128I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250984	NM_022893.4(BCL11A):c.1604G>A (p.Gly535Asp)	BCL11A (G204D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3235794	NM_022893.4(BCL11A):c.62C>T (p.Pro21Leu)	BCL11A (P21L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3133379	NM_022893.4(BCL11A):c.1840T>C (p.Ser614Pro)	BCL11A (S383P +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133378	NM_022893.4(BCL11A):c.1759G>A (p.Glu587Lys)	BCL11A (E356K +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133377	NM_022893.4(BCL11A):c.1594G>A (p.Ala532Thr)	BCL11A (A201T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3069151	NM_022893.4(BCL11A):c.1230C>A (p.Cys410Ter)	BCL11A (C179* +8 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GLikely pathogenic
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 3062626	GRCh37/hg19 2p16.1(chr2:60693746-60802307)x1	BCL11A	Copy number loss	not specified	GPathogenic
Select item 3057664	NM_022893.4(BCL11A):c.2082C>T (p.Asn694=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related disorder	GLikely benign
Select item 3054440	NM_022893.4(BCL11A):c.1962C>T (p.Asn654=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related disorder	GLikely benign
Select item 3044508	NM_022893.4(BCL11A):c.1971G>A (p.Ser657=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related disorder	GLikely benign
Select item 3042356	NM_022893.4(BCL11A):c.294C>T (p.Pro98=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related disorder	GLikely benign
Select item 3035068	NM_022893.4(BCL11A):c.1077C>A (p.Pro359=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related disorder	GLikely benign
Select item 3033311	NM_022893.4(BCL11A):c.488-1G>C	BCL11A	Single nucleotide variant (splice acceptor variant)	BCL11A-related disorder	GLikely pathogenic
Select item 3026863	NM_022893.4(BCL11A):c.1375G>A (p.Ala459Thr)	BCL11A (A128T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026556	NM_022893.4(BCL11A):c.662G>A (p.Cys221Tyr)	BCL11A (C110Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025869	NM_001405708.1(BCL11A):c.*23C>T	BCL11A (R420W +5 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 3024309	NM_022893.4(BCL11A):c.1417G>T (p.Glu473Ter)	BCL11A (E142* +8 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GPathogenic
Select item 2827166	NM_022893.4(BCL11A):c.202C>T (p.Arg68Trp)	BCL11A (R16W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682436	NM_022893.4(BCL11A):c.1595C>G (p.Ala532Gly)	BCL11A (A201G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2682233	NM_022893.4(BCL11A):c.488-1G>A	BCL11A	Single nucleotide variant (splice acceptor variant)	Dias-Logan syndrome	GLikely pathogenic
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 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 2672192	NM_022893.4(BCL11A):c.791C>G (p.Pro264Arg)	BCL11A (P112R +5 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2664657	NM_022893.4(BCL11A):c.1576del (p.Glu526fs)	BCL11A (E195fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 2650969	NM_022893.4(BCL11A):c.385+7591G>A	BCL11A	Single nucleotide variant (intron variant)	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 2650967	NM_022893.4(BCL11A):c.385+37207C>T	BCL11A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 2650965	NM_022893.4(BCL11A):c.576T>G (p.Thr192=)	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 +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2650963	NM_022893.4(BCL11A):c.1545C>T (p.Phe515=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	BCL11A-related disorder +1 more	GLikely benign
Select item 2650962	NM_022893.4(BCL11A):c.1795G>A (p.Asp599Asn)	BCL11A (D268N +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2650961	NM_022893.4(BCL11A):c.2147C>G (p.Thr716Arg)	BCL11A (T385R +8 more)	Single nucleotide variant (missense variant +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 2650959	NM_001405708.1(BCL11A):c.*76G>C	BCL11A (R149P +6 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2633755	NM_022893.4(BCL11A):c.588A>C (p.Arg196Ser)	BCL11A (R110S +5 more)	Single nucleotide variant (missense variant +1 more)	BCL11A-related disorder	GUncertain significance
Select item 2628982	NM_022893.4(BCL11A):c.1015A>G (p.Met339Val)	BCL11A (M187V +5 more)	Single nucleotide variant (missense variant +1 more)	BCL11A-related disorder	GUncertain significance
Select item 2626960	NM_022893.4(BCL11A):c.784A>C (p.Thr262Pro)	BCL11A (T110P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2626889	NM_022893.4(BCL11A):c.1715G>A (p.Arg572His)	BCL11A (R241H +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2626885	NM_022893.4(BCL11A):c.875del (p.His292fs)	BCL11A (H140fs +5 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GPathogenic
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 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 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 2574572	NM_022893.4(BCL11A):c.557T>G (p.Leu186Trp)	BCL11A (L100W +5 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2573334	NM_022893.4(BCL11A):c.515G>C (p.Cys172Ser)	BCL11A (C120S +5 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2572238	NM_022893.4(BCL11A):c.176A>T (p.Asp59Val)	BCL11A (D59V +1 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 2570606	NM_022893.4(BCL11A):c.1486G>T (p.Glu496Ter)	BCL11A (E344* +8 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GPathogenic
Select item 2526205	NM_022893.4(BCL11A):c.2035T>G (p.Ser679Ala)	BCL11A (S645A +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504833	NM_022893.4(BCL11A):c.2069A>G (p.His690Arg)	BCL11A (H359R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500886	NM_022893.4(BCL11A):c.1504G>T (p.Glu502Ter)	BCL11A (E171* +8 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GLikely pathogenic
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 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 2484204	NM_022893.4(BCL11A):c.2093G>A (p.Arg698His)	BCL11A (R367H +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2439491	NM_022893.4(BCL11A):c.1625C>A (p.Ala542Asp)	BCL11A (A211D +8 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 +8 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 +8 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)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2439487	NM_022893.4(BCL11A):c.134T>G (p.Leu45Arg)	BCL11A (L45R)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2439486	NM_022893.4(BCL11A):c.2188C>A (p.Pro730Thr)	BCL11A (P399T +8 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome +1 more	GUncertain significance
Select item 2430881	NM_022893.4(BCL11A):c.2104C>G (p.Pro702Ala)	BCL11A (P371A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430008	NM_022893.4(BCL11A):c.1474G>A (p.Glu492Lys)	BCL11A (E161K +8 more)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GLikely benign
Select item 2393891	NM_022893.4(BCL11A):c.65T>C (p.Leu22Pro)	BCL11A (L22P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320020	NM_022893.4(BCL11A):c.193G>C (p.Glu65Gln)	BCL11A (E65Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294550	NM_022893.4(BCL11A):c.1710T>A (p.His570Gln)	BCL11A (H570Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2283976	NM_022893.4(BCL11A):c.1078C>T (p.Leu360Phe)	BCL11A (L274F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276018	NM_022893.4(BCL11A):c.80C>G (p.Thr27Arg)	BCL11A (T27R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270259	NM_022893.4(BCL11A):c.64C>G (p.Leu22Val)	BCL11A (L22V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269530	NM_022893.4(BCL11A):c.1076C>G (p.Pro359Arg)	BCL11A (P307R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268059	NM_022893.4(BCL11A):c.2161A>G (p.Ser721Gly)	BCL11A (S542G +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265697	NM_022893.4(BCL11A):c.2186G>A (p.Gly729Asp)	BCL11A (G695D +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2240560	NM_022893.4(BCL11A):c.355G>A (p.Gly119Arg)	BCL11A (G119R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228667	NM_022893.4(BCL11A):c.1929C>G (p.Asp643Glu)	BCL11A (D412E +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211455	NM_022893.4(BCL11A):c.203G>A (p.Arg68Gln)	BCL11A (R16Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2136091	NM_022893.4(BCL11A):c.2041C>A (p.Gln681Lys)	BCL11A (Q570K +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2136059	NM_022893.4(BCL11A):c.1295C>T (p.Ser432Phe)	BCL11A (S101F +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2126136	NM_022893.4(BCL11A):c.2T>A (p.Met1Lys)	BCL11A (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1810468	NM_022893.4(BCL11A):c.1342C>T (p.Pro448Ser)	BCL11A (P217S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1808715	GRCh37/hg19 2p16.1-15(chr2:60680467-61527143)x3	BCL11A, C2orf74 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 1806566	NM_022893.4(BCL11A):c.457A>T (p.Met153Leu)	BCL11A (M101L +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1805882	NM_022893.4(BCL11A):c.91C>G (p.Pro31Ala)	BCL11A (P31A)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
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 1804108	NM_022893.4(BCL11A):c.759_769del (p.Leu254fs)	BCL11A (L220fs +5 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 1802069	NM_022893.4(BCL11A):c.968C>T (p.Ala323Val)	BCL11A (A171V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1800984	NM_022893.4(BCL11A):c.1493A>G (p.Glu498Gly)	BCL11A (E167G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722812	NM_022893.4(BCL11A):c.734G>C (p.Gly245Ala)	BCL11A (G134A +5 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 +8 more)	Single nucleotide variant (missense variant +1 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 1709212	NM_022893.4(BCL11A):c.184del (p.Ile62fs)	BCL11A (I62fs +1 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic

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