ClinVar for Gene (Select 64919) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368468	NM_138576.4(BCL11B):c.958C>T (p.Pro320Ser)	BCL11B (P248S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366221	NM_138576.4(BCL11B):c.2378G>A (p.Arg793His)	BCL11B (R721H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365735	NM_138576.4(BCL11B):c.2456C>T (p.Thr819Ile)	BCL11B (T747I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365344	NM_138576.4(BCL11B):c.1975_1995del (p.Ala659_Phe665del)	BCL11B	Deletion	not provided	GUncertain significance
Select item 3364703	NM_138576.4(BCL11B):c.842A>G (p.Asn281Ser)	BCL11B (N209S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364639	NM_138576.4(BCL11B):c.739C>T (p.Arg247Cys)	BCL11B (R175C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363652	NM_138576.4(BCL11B):c.784C>T (p.Arg262Trp)	BCL11B (R190W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352855	NM_138576.4(BCL11B):c.1080C>T (p.Ala360=)	BCL11B	Single nucleotide variant (synonymous variant)	BCL11B-related disorder	GLikely benign
Select item 3348094	NM_138576.4(BCL11B):c.1351G>T (p.Gly451Cys)	BCL11B (G379C +3 more)	Single nucleotide variant (missense variant)	BCL11B-related disorder	GUncertain significance
Select item 3346986	NM_138576.4(BCL11B):c.756_765del (p.Gly253fs)	BCL11B (G181fs +3 more)	Deletion (frameshift variant)	BCL11B-related disorder	GPathogenic
Select item 3343221	NM_138576.4(BCL11B):c.653C>T (p.Pro218Leu)	BCL11B (P146L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340677	NM_138576.4(BCL11B):c.2534C>T (p.Thr845Met)	BCL11B (T773M +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3260638	NM_138576.4(BCL11B):c.1705G>A (p.Gly569Ser)	BCL11B (G569S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260636	NM_138576.4(BCL11B):c.2T>C (p.Met1Thr)	BCL11B (M1T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260635	NM_138576.4(BCL11B):c.301T>G (p.Ser101Ala)	BCL11B (S100A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254643	NM_138576.4(BCL11B):c.334C>G (p.Pro112Ala)	BCL11B (P111A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GUncertain significance
Select item 3253449	NM_138576.4(BCL11B):c.682C>G (p.Gln228Glu)	BCL11B (Q156E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244102	NC_000014.8:g.(?_99375322)_(101142891_?)dup	BCL11B, BEGAIN +13 more	Duplication	not provided	GUncertain significance
Select item 3234924	NM_138576.4(BCL11B):c.814G>C (p.Glu272Gln)	BCL11B (E200Q +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GUncertain significance
Select item 3133386	NM_138576.4(BCL11B):c.2518_2519del (p.Thr840fs)	BCL11B (T768fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3133385	NM_138576.4(BCL11B):c.2299C>T (p.Arg767Cys)	BCL11B (R695C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133384	NM_138576.4(BCL11B):c.2007C>A (p.Phe669Leu)	BCL11B (F668L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133383	NM_138576.4(BCL11B):c.1468G>A (p.Asp490Asn)	BCL11B (D418N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133382	NM_138576.4(BCL11B):c.1358A>G (p.Lys453Arg)	BCL11B (K381R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133381	NM_138576.4(BCL11B):c.1105G>A (p.Glu369Lys)	BCL11B (E297K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067947	NM_138576.4(BCL11B):c.1644C>A (p.Asn548Lys)	BCL11B (N476K +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 49	GUncertain significance
Select item 3063607	NM_138576.4(BCL11B):c.123A>G (p.Pro41=)	BCL11B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
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 3027195	NM_138576.4(BCL11B):c.2403C>A (p.Cys801Ter)	BCL11B (C729* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3025996	NM_138576.4(BCL11B):c.886G>A (p.Gly296Ser)	BCL11B (G224S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022530	NM_138576.4(BCL11B):c.1974C>T (p.Phe658=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018231	NM_138576.4(BCL11B):c.162C>T (p.Asp54=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017292	NM_138576.4(BCL11B):c.1998C>T (p.Pro666=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015532	NM_138576.4(BCL11B):c.2090C>T (p.Pro697Leu)	BCL11B (P625L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3013033	NM_138576.4(BCL11B):c.1776G>A (p.Ala592=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009410	NM_138576.4(BCL11B):c.198C>G (p.Pro66=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008184	NM_138576.4(BCL11B):c.1015G>A (p.Ala339Thr)	BCL11B (A267T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004986	NM_138576.4(BCL11B):c.1540G>A (p.Asp514Asn)	BCL11B (D514N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002530	NM_138576.4(BCL11B):c.979C>G (p.Pro327Ala)	BCL11B (P326A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002034	NM_138576.4(BCL11B):c.408C>T (p.Pro136=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001230	NM_138576.4(BCL11B):c.1064C>T (p.Ala355Val)	BCL11B (A284V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001035	NM_138576.4(BCL11B):c.1218G>A (p.Thr406=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999423	NM_138576.4(BCL11B):c.2226G>C (p.Glu742Asp)	BCL11B (E670D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999347	NM_138576.4(BCL11B):c.529C>T (p.Leu177Phe)	BCL11B (L176F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997564	NM_138576.4(BCL11B):c.113T>C (p.Ile38Thr)	BCL11B (I37T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995988	NM_138576.4(BCL11B):c.1296C>T (p.Cys432=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994601	NM_138576.4(BCL11B):c.566G>A (p.Arg189His)	BCL11B (R189H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2994012	NM_138576.4(BCL11B):c.828G>A (p.Gln276=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993949	NM_138576.4(BCL11B):c.129C>T (p.Gly43=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992198	NM_138576.4(BCL11B):c.1978C>G (p.Pro660Ala)	BCL11B (P660A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988925	NM_138576.4(BCL11B):c.884C>T (p.Thr295Met)	BCL11B (T294M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988019	NM_138576.4(BCL11B):c.933G>A (p.Pro311=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987101	NM_138576.4(BCL11B):c.1944C>T (p.Gly648=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986665	NM_138576.4(BCL11B):c.641-14G>C	BCL11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986070	NM_138576.4(BCL11B):c.2364C>T (p.Ser788=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986009	NM_138576.4(BCL11B):c.1271C>A (p.Ala424Asp)	BCL11B (A352D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985050	NM_138576.4(BCL11B):c.1916C>T (p.Ala639Val)	BCL11B (A639V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984754	NM_138576.4(BCL11B):c.2049C>T (p.Ser683=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983012	NM_138576.4(BCL11B):c.39C>T (p.Ser13=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981661	NM_138576.4(BCL11B):c.900G>C (p.Arg300=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979847	NM_138576.4(BCL11B):c.1826A>G (p.Gln609Arg)	BCL11B (Q537R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979581	NM_138576.4(BCL11B):c.1125C>T (p.Ser375=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976641	NM_138576.4(BCL11B):c.58+13G>T	BCL11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976324	NM_138576.4(BCL11B):c.2031C>G (p.Pro677=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974074	NM_138576.4(BCL11B):c.1206G>A (p.Pro402=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972611	NM_138576.4(BCL11B):c.1950G>T (p.Ala650=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971501	NM_138576.4(BCL11B):c.1950G>C (p.Ala650=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971484	NM_138576.4(BCL11B):c.1632G>C (p.Leu544=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970576	NM_138576.4(BCL11B):c.2235C>T (p.Ser745=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970141	NM_138576.4(BCL11B):c.2316C>T (p.Ser772=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969525	NM_138576.4(BCL11B):c.1920C>T (p.Gly640=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968039	NM_138576.4(BCL11B):c.2454C>T (p.His818=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967117	NM_138576.4(BCL11B):c.2096C>G (p.Ala699Gly)	BCL11B (A627G +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2966588	NM_138576.4(BCL11B):c.690C>T (p.Phe230=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966273	NM_138576.4(BCL11B):c.1287C>T (p.Cys429=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964685	NM_138576.4(BCL11B):c.428-12T>C	BCL11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960189	NM_138576.4(BCL11B):c.850G>T (p.Gly284Cys)	BCL11B (G213C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2955193	NM_138576.4(BCL11B):c.924C>T (p.Gly308=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917685	NM_138576.4(BCL11B):c.1212G>C (p.Leu404=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914739	NM_138576.4(BCL11B):c.797C>T (p.Pro266Leu)	BCL11B (P266L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909670	NM_138576.4(BCL11B):c.1634T>C (p.Leu545Pro)	BCL11B (L544P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906999	NM_138576.4(BCL11B):c.1697G>A (p.Arg566His)	BCL11B (R566H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906714	NM_138576.4(BCL11B):c.1795A>G (p.Met599Val)	BCL11B (M598V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2906684	NM_138576.4(BCL11B):c.1599G>A (p.Glu533=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905245	NM_138576.4(BCL11B):c.533C>T (p.Pro178Leu)	BCL11B (P178L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2904171	NM_138576.4(BCL11B):c.558C>T (p.Cys186=)	BCL11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903261	NM_138576.4(BCL11B):c.1572G>A (p.Pro524=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901461	NM_138576.4(BCL11B):c.1627G>C (p.Glu543Gln)	BCL11B (E471Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896406	NM_138576.4(BCL11B):c.2460C>T (p.Gly820=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895923	NM_138576.4(BCL11B):c.1904_1939del (p.Asp635_Gly646del)	BCL11B	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2895573	NM_138576.4(BCL11B):c.1509C>T (p.Ser503=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895186	NM_138576.4(BCL11B):c.2211C>T (p.Phe737=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893787	NM_138576.4(BCL11B):c.2319A>G (p.Gly773=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893786	NM_138576.4(BCL11B):c.2328C>G (p.Thr776=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892931	NM_138576.4(BCL11B):c.384C>G (p.Leu128=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889048	NM_138576.4(BCL11B):c.2431T>C (p.Leu811=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888548	NM_138576.4(BCL11B):c.1236G>A (p.Met412Ile)	BCL11B (M411I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882040	NM_138576.4(BCL11B):c.1817C>T (p.Ala606Val)	BCL11B (A535V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879999	NM_138576.4(BCL11B):c.1617G>C (p.Glu539Asp)	BCL11B (E467D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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