FOXO3[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	LINC00222, LINC02526 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 151079	GRCh38/hg38 6q21(chr6:108531375-108589781)x1	FOXO3, LOC113121302 +6 more	Copy number loss	See cases	GUncertain significance
Select item 2617269	NM_001455.4(FOXO3):c.14C>T (p.Pro5Leu)	FOXO3 (P5L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612232	NM_001455.4(FOXO3):c.16G>T (p.Ala6Ser)	FOXO3 (A6S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656821	NM_001455.4(FOXO3):c.32T>G (p.Leu11Arg)	FOXO3 (L11R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2311454	NM_001455.4(FOXO3):c.79C>T (p.Arg27Cys)	FOXO3 (R27C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214777	NM_001455.4(FOXO3):c.152C>T (p.Thr51Met)	FOXO3 (T51M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359076	NM_001455.4(FOXO3):c.220G>A (p.Gly74Ser)	FOXO3 (G74S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609166	NM_001455.4(FOXO3):c.263T>G (p.Leu88Arg)	FOXO3 (L88R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380243	NM_001455.4(FOXO3):c.335C>T (p.Pro112Leu)	FOXO3 (P112L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494092	NM_001455.4(FOXO3):c.356T>A (p.Leu119Gln)	FOXO3 (L119Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344812	NM_001455.4(FOXO3):c.413C>T (p.Pro138Leu)	FOXO3 (P138L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770927	NM_001455.4(FOXO3):c.419C>T (p.Ala140Val)	FOXO3 (A140V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2228356	NM_001455.4(FOXO3):c.431C>G (p.Ser144Cys)	FOXO3 (S144C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735237	NM_001455.4(FOXO3):c.432C>T (p.Ser144=)	FOXO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719100	NM_001455.4(FOXO3):c.504C>T (p.Arg168=)	FOXO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 438763	NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter)	FOXO3 (K195*)	Single nucleotide variant (nonsense)	Choroid plexus carcinoma	Gother
Select item 1269978	NM_001455.4(FOXO3):c.621+25486G>T	FOXO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 438764	NM_001455.4(FOXO3):c.699G>A (p.Trp233Ter)	FOXO3 (W233*)	Single nucleotide variant (nonsense)	Medulloblastoma	Gother
Select item 769687	NM_001455.4(FOXO3):c.747G>A (p.Arg249=)	FOXO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2353984	NM_001455.4(FOXO3):c.782C>T (p.Thr261Ile)	FOXO3 (T261I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781755	NM_001455.4(FOXO3):c.1021G>A (p.Ala341Thr)	FOXO3 (A341T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719133	NM_001455.4(FOXO3):c.1185G>A (p.Thr395=)	FOXO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2656822	NM_001455.4(FOXO3):c.1223T>C (p.Met408Thr)	FOXO3 (M188T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2557859	NM_001455.4(FOXO3):c.1226A>G (p.Gln409Arg)	FOXO3 (Q220R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298336	NM_001455.4(FOXO3):c.1237A>T (p.Ser413Cys)	FOXO3 (S413C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464867	NM_001455.4(FOXO3):c.1253C>T (p.Thr418Ile)	FOXO3 (T198I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341045	NM_001455.4(FOXO3):c.1283G>A (p.Ser428Asn)	FOXO3 (S208N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616672	NM_001455.4(FOXO3):c.1286C>T (p.Ser429Phe)	FOXO3 (S240F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314500	NM_001455.4(FOXO3):c.1286C>G (p.Ser429Cys)	FOXO3 (S429C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489880	NM_001455.4(FOXO3):c.1339C>G (p.Pro447Ala)	FOXO3 (P447A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236721	NM_001455.4(FOXO3):c.1479G>A (p.Met493Ile)	FOXO3 (M273I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719678	NM_001455.4(FOXO3):c.1494C>T (p.Thr498=)	FOXO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335524	NM_001455.4(FOXO3):c.1546A>G (p.Met516Val)	FOXO3 (M296V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309101	NM_001455.4(FOXO3):c.1669A>G (p.Met557Val)	FOXO3, LOC129389606 (M337V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532225	NM_001455.4(FOXO3):c.1745C>A (p.Thr582Asn)	FOXO3, LOC129389606 (T582N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1277545	NM_001455.4(FOXO3):c.*35-288A>G	FOXO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272154	NM_001455.4(FOXO3):c.*2326T>C	FOXO3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3062942	GRCh37/hg19 6q21(chr6:108992778-110303422)x1	AK9, ARMC2 +10 more	Copy number loss	not specified	GUncertain significance
Select item 3062920	GRCh37/hg19 6q21(chr6:107876812-109065741)x3	AFG1L, FOXO3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	AFG1L, AK9 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 563217	GRCh37/hg19 6q21(chr6:108325097-108908760)x1	OSTM1, FOXO3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	KLHL32, LIN28B +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic

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Items: 59