64919[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	EDDM3B, EFCAB11 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	TRI-AAT5-4, TRIP11 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	LOC126862009, LOC126862010 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056505, LOC130056506 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 57812	GRCh38/hg38 14q32.2(chr14:96920270-100178956)x1	BCL11B, CCDC85C +81 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
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 2832146	NM_138576.4(BCL11B):c.2680A>C (p.Ser894Arg)	BCL11B (S823R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560176	NM_138576.4(BCL11B):c.2671del (p.Ala891fs)	BCL11B (A820fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 2776311	NM_138576.4(BCL11B):c.2664C>G (p.Ile888Met)	BCL11B (I816M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644501	NM_138576.4(BCL11B):c.2662A>G (p.Ile888Val)	BCL11B (I816V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346196	NM_138576.4(BCL11B):c.2653G>A (p.Asp885Asn)	BCL11B (D813N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862352	NM_138576.4(BCL11B):c.2649_2652del (p.Asn884fs)	BCL11B (N813fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1551779	NM_138576.4(BCL11B):c.2646G>T (p.Leu882=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720422	NM_138576.4(BCL11B):c.2641T>G (p.Leu881Val)	BCL11B (L809V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164039	NM_138576.4(BCL11B):c.2640C>G (p.His880Gln)	BCL11B (H809Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1326468	NM_138576.4(BCL11B):c.2637G>C (p.Glu879Asp)	BCL11B (E807D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781845	NM_138576.4(BCL11B):c.2635G>A (p.Glu879Lys)	BCL11B (E807K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064124	NM_138576.4(BCL11B):c.2632G>A (p.Gly878Ser)	BCL11B (G807S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2785966	NM_138576.4(BCL11B):c.2625G>A (p.Lys875=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601056	NM_138576.4(BCL11B):c.2622A>G (p.Lys874=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1203923	NM_138576.4(BCL11B):c.2616_2617del (p.Met873fs)	BCL11B (M801fs +3 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2850780	NM_138576.4(BCL11B):c.2607G>A (p.Leu869=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1801832	NM_138576.4(BCL11B):c.2605del (p.Leu869fs)	BCL11B (L797fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 1554897	NM_138576.4(BCL11B):c.2604C>G (p.Thr868=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	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 1606257	NM_138576.4(BCL11B):c.2571C>T (p.Asp857=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872387	NM_138576.4(BCL11B):c.2565C>T (p.Arg855=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551872	NM_138576.4(BCL11B):c.2559G>A (p.Val853=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502124	NM_138576.4(BCL11B):c.2555A>T (p.Glu852Val)	BCL11B (E780V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706494	NM_138576.4(BCL11B):c.2542C>T (p.Gln848Ter)	BCL11B (Q848* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1546663	NM_138576.4(BCL11B):c.2541G>C (p.Gly847=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576317	NM_138576.4(BCL11B):c.2538C>T (p.His846=)	BCL11B	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1801068	NM_138576.4(BCL11B):c.2536C>G (p.His846Asp)	BCL11B (H774D +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1804030	NM_138576.4(BCL11B):c.2513A>G (p.Lys838Arg)	BCL11B (K766R +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GLikely pathogenic
Select item 1164020	NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn)	BCL11B (S764N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2644502	NM_138576.4(BCL11B):c.2499C>T (p.Cys833=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398821	NM_138576.4(BCL11B):c.2478C>T (p.Cys826=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 987119	NM_138576.4(BCL11B):c.2472C>A (p.Tyr824Ter)	BCL11B (Y752* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1292051	NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs)	BCL11B (E749fs +3 more)	Duplication (frameshift variant)	Immunodeficiency 49 +1 more	GPathogenic
Select item 1177353	NM_138576.4(BCL11B):c.2448_2461del (p.Ser817fs)	BCL11B (S745fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GLikely pathogenic
Select item 2896406	NM_138576.4(BCL11B):c.2460C>T (p.Gly820=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119672	NM_138576.4(BCL11B):c.2460C>G (p.Gly820=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1934128	NM_138576.4(BCL11B):c.2457C>G (p.Thr819=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932939	NM_138576.4(BCL11B):c.2457C>T (p.Thr819=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 560175	NM_138576.4(BCL11B):c.2449_2456dup (p.Gly820fs)	BCL11B (G820fs +3 more)	Duplication (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 2968039	NM_138576.4(BCL11B):c.2454C>T (p.His818=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1177352	NM_138576.4(BCL11B):c.2439_2452dup (p.His818fs)	BCL11B (H746fs +3 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2841301	NM_138576.4(BCL11B):c.2446C>T (p.Arg816Trp)	BCL11B (R816W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009287	NM_138576.4(BCL11B):c.2443C>T (p.Arg815Trp)	BCL11B (R744W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804880	NM_138576.4(BCL11B):c.2443del (p.Arg815fs)	BCL11B (R743fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 1603589	NM_138576.4(BCL11B):c.2436G>A (p.Thr812=)	BCL11B	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 995958	NM_138576.4(BCL11B):c.2435_2436insAA (p.Val813fs)	BCL11B (V741fs +3 more)	Insertion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
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 2889048	NM_138576.4(BCL11B):c.2431T>C (p.Leu811=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 560174	NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)	BCL11B (N807K +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities +1 more	GPathogenic/Likely pathogenic
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 2829365	NM_138576.4(BCL11B):c.2400C>T (p.Tyr800=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495040	NM_138576.4(BCL11B):c.2394C>T (p.Cys798=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173174	NM_138576.4(BCL11B):c.2385C>T (p.Ser795=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1712843	NM_138576.4(BCL11B):c.2383A>T (p.Ser795Cys)	BCL11B (S723C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104770	NM_138576.4(BCL11B):c.2382C>T (p.Arg794=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804865	NM_138576.4(BCL11B):c.2379C>T (p.Arg793=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765704	NM_138576.4(BCL11B):c.2376C>T (p.Gly792=)	BCL11B	Single nucleotide variant (synonymous 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 1184138	NM_138576.4(BCL11B):c.2346_2361del (p.Gly783fs)	BCL11B (G711fs +3 more)	Deletion (frameshift variant)	See cases +1 more	GPathogenic
Select item 2714652	NM_138576.4(BCL11B):c.2357G>A (p.Arg786Gln)	BCL11B (R714Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1472650	NM_138576.4(BCL11B):c.2357G>C (p.Arg786Pro)	BCL11B (R714P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963558	NM_138576.4(BCL11B):c.2355G>A (p.Gly785=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069458	NM_138576.4(BCL11B):c.2352C>T (p.Pro784=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535801	NM_138576.4(BCL11B):c.2349C>G (p.Gly783=)	BCL11B	Single nucleotide variant (synonymous variant)	BCL11B-related disorder +1 more	GLikely benign
Select item 1115436	NM_138576.4(BCL11B):c.2349C>T (p.Gly783=)	BCL11B	Single nucleotide variant (synonymous variant)	BCL11B-related disorder +1 more	GLikely benign
Select item 916090	NM_138576.4(BCL11B):c.2348del (p.Gly783fs)	BCL11B (G711fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1543014	NM_138576.4(BCL11B):c.2346G>C (p.Pro782=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538189	NM_138576.4(BCL11B):c.2343C>T (p.Gly781=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522892	NM_138576.4(BCL11B):c.2341G>C (p.Gly781Arg)	BCL11B (G710R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423766	NM_138576.4(BCL11B):c.2340_2341delinsTC (p.Gly781Arg)	BCL11B (G780R +3 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1934767	NM_138576.4(BCL11B):c.2338G>A (p.Gly780Ser)	BCL11B (G780S +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2893786	NM_138576.4(BCL11B):c.2328C>G (p.Thr776=)	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 1489084	NM_138576.4(BCL11B):c.2317G>A (p.Gly773Arg)	BCL11B (G701R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2970141	NM_138576.4(BCL11B):c.2316C>T (p.Ser772=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1165777	NM_138576.4(BCL11B):c.2307C>T (p.Gly769=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2330128	NM_138576.4(BCL11B):c.2293T>C (p.Ser765Pro)	BCL11B (S764P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1450647	NM_138576.4(BCL11B):c.2286C>T (p.Gly762=)	BCL11B	Single nucleotide variant (synonymous variant)	BCL11B-related disorder +1 more	GLikely benign
Select item 1598362	NM_138576.4(BCL11B):c.2283C>T (p.Asp761=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608083	NM_138576.4(BCL11B):c.2275C>G (p.Leu759Val)	BCL11B (L758V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1168374	NM_138576.4(BCL11B):c.2268C>T (p.Pro756=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2878969	NM_138576.4(BCL11B):c.2265G>T (p.Pro755=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994374	NM_138576.4(BCL11B):c.2265G>C (p.Pro755=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1631137	NM_138576.4(BCL11B):c.2265G>A (p.Pro755=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772976	NM_138576.4(BCL11B):c.2264C>T (p.Pro755Leu)	BCL11B (P754L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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