ClinVar for Gene (Select 2309) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3096551	NM_001455.4(FOXO3):c.991A>G (p.Thr331Ala)	FOXO3 (T331A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096550	NM_001455.4(FOXO3):c.914C>T (p.Ala305Val)	FOXO3 (A138V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096549	NM_001455.4(FOXO3):c.433G>A (p.Gly145Arg)	FOXO3 (G145R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3096548	NM_001455.4(FOXO3):c.428G>T (p.Gly143Val)	FOXO3 (G143V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3096547	NM_001455.4(FOXO3):c.269C>G (p.Ser90Cys)	FOXO3 (S90C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3096546	NM_001455.4(FOXO3):c.1061T>G (p.Leu354Arg)	FOXO3 (L187R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 2617269	NM_001455.4(FOXO3):c.14C>T (p.Pro5Leu)	FOXO3 (P5L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 2380243	NM_001455.4(FOXO3):c.335C>T (p.Pro112Leu)	FOXO3 (P112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359076	NM_001455.4(FOXO3):c.220G>A (p.Gly74Ser)	FOXO3 (G74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353984	NM_001455.4(FOXO3):c.782C>T (p.Thr261Ile)	FOXO3 (T261I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344812	NM_001455.4(FOXO3):c.413C>T (p.Pro138Leu)	FOXO3 (P138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341045	NM_001455.4(FOXO3):c.1283G>A (p.Ser428Asn)	FOXO3 (S208N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335524	NM_001455.4(FOXO3):c.1546A>G (p.Met516Val)	FOXO3 (M296V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314500	NM_001455.4(FOXO3):c.1286C>G (p.Ser429Cys)	FOXO3 (S429C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311454	NM_001455.4(FOXO3):c.79C>T (p.Arg27Cys)	FOXO3 (R27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309101	NM_001455.4(FOXO3):c.1669A>G (p.Met557Val)	FOXO3, LOC129389606 (M337V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298336	NM_001455.4(FOXO3):c.1237A>T (p.Ser413Cys)	FOXO3 (S413C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236721	NM_001455.4(FOXO3):c.1479G>A (p.Met493Ile)	FOXO3 (M273I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228356	NM_001455.4(FOXO3):c.431C>G (p.Ser144Cys)	FOXO3 (S144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214777	NM_001455.4(FOXO3):c.152C>T (p.Thr51Met)	FOXO3 (T51M)	Single nucleotide variant (missense variant)	not specified	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 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 1269978	NM_001455.4(FOXO3):c.621+25486G>T	FOXO3	Single nucleotide variant (intron variant)	not provided	GBenign
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 781755	NM_001455.4(FOXO3):c.1021G>A (p.Ala341Thr)	FOXO3 (A341T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770927	NM_001455.4(FOXO3):c.419C>T (p.Ala140Val)	FOXO3 (A140V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769687	NM_001455.4(FOXO3):c.747G>A (p.Arg249=)	FOXO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735237	NM_001455.4(FOXO3):c.432C>T (p.Ser144=)	FOXO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719678	NM_001455.4(FOXO3):c.1494C>T (p.Thr498=)	FOXO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719133	NM_001455.4(FOXO3):c.1185G>A (p.Thr395=)	FOXO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719100	NM_001455.4(FOXO3):c.504C>T (p.Arg168=)	FOXO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	AFG1L, AK9 +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
Select item 438764	NM_001455.4(FOXO3):c.699G>A (p.Trp233Ter)	FOXO3 (W233*)	Single nucleotide variant (nonsense)	Medulloblastoma	Gother
Select item 438763	NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter)	FOXO3 (K195*)	Single nucleotide variant (nonsense)	Choroid plexus carcinoma	Gother
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 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 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 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 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 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 65