FOXB2[gene] - ClinVar

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

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 144959	GRCh38/hg38 9q21.2(chr9:76996739-77415046)x1	FOXB2, LOC121331330 +6 more	Copy number loss	See cases	GUncertain significance
Select item 2489708	NM_001013735.1(FOXB2):c.13G>T (p.Gly5Trp)	FOXB2 (G5W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392502	NM_001013735.1(FOXB2):c.29G>T (p.Ser10Ile)	FOXB2 (S10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279505	NM_001013735.1(FOXB2):c.47A>T (p.Tyr16Phe)	FOXB2 (Y16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483528	NM_001013735.1(FOXB2):c.68C>T (p.Ala23Val)	FOXB2 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279503	NM_001013735.1(FOXB2):c.184C>T (p.Arg62Cys)	FOXB2 (R62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096260	NM_001013735.1(FOXB2):c.208T>G (p.Cys70Gly)	FOXB2 (C70G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096261	NM_001013735.1(FOXB2):c.286A>G (p.Met96Val)	FOXB2 (M96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279502	NM_001013735.1(FOXB2):c.288G>T (p.Met96Ile)	FOXB2 (M96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308085	NM_001013735.1(FOXB2):c.337C>A (p.Arg113Ser)	FOXB2 (R113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279504	NM_001013735.1(FOXB2):c.481C>A (p.His161Asn)	FOXB2 (H161N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559956	NM_001013735.1(FOXB2):c.512C>T (p.Pro171Leu)	FOXB2 (P171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096262	NM_001013735.1(FOXB2):c.640C>T (p.Pro214Ser)	FOXB2 (P214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552717	NM_001013735.1(FOXB2):c.674C>T (p.Ala225Val)	FOXB2 (A225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096263	NM_001013735.1(FOXB2):c.682G>C (p.Ala228Pro)	FOXB2 (A228P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309646	NM_001013735.1(FOXB2):c.712G>A (p.Val238Met)	FOXB2 (V238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253174	NM_001013735.1(FOXB2):c.784T>A (p.Ser262Thr)	FOXB2 (S262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096264	NM_001013735.1(FOXB2):c.788C>G (p.Thr263Arg)	FOXB2 (T263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321989	NM_001013735.1(FOXB2):c.810T>G (p.Phe270Leu)	FOXB2 (F270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622807	NM_001013735.1(FOXB2):c.880G>C (p.Val294Leu)	FOXB2 (V294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510624	NM_001013735.1(FOXB2):c.883A>G (p.Met295Val)	FOXB2 (M295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096265	NM_001013735.1(FOXB2):c.884T>C (p.Met295Thr)	FOXB2 (M295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096266	NM_001013735.1(FOXB2):c.915G>T (p.Gln305His)	FOXB2 (Q305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489977	NM_001013735.1(FOXB2):c.920G>T (p.Gly307Val)	FOXB2 (G307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279501	NM_001013735.1(FOXB2):c.937G>T (p.Val313Leu)	FOXB2 (V313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096267	NM_001013735.1(FOXB2):c.955G>A (p.Val319Ile)	FOXB2 (V319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252632	NM_001013735.1(FOXB2):c.998C>A (p.Ala333Asp)	FOXB2 (A333D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096257	NM_001013735.1(FOXB2):c.1003G>C (p.Val335Leu)	FOXB2 (V335L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321527	NM_001013735.1(FOXB2):c.1027G>A (p.Ala343Thr)	FOXB2 (A343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096258	NM_001013735.1(FOXB2):c.1028C>G (p.Ala343Gly)	FOXB2 (A343G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344811	NM_001013735.1(FOXB2):c.1034G>A (p.Gly345Glu)	FOXB2 (G345E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279500	NM_001013735.1(FOXB2):c.1123G>A (p.Val375Met)	FOXB2 (V375M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546033	NM_001013735.1(FOXB2):c.1162T>C (p.Ser388Pro)	FOXB2 (S388P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546855	NM_001013735.1(FOXB2):c.1178C>T (p.Ala393Val)	FOXB2 (A393V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687864	GRCh37/hg19 9q21.13-21.31(chr9:78672613-83349616)x1	CEP78, FOXB2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685659	GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1	ABHD17B, ALDH1A1 +42 more	Copy number loss	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 563676	GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1	ALDH1A1, ANXA1 +24 more	Copy number loss	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442687	GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3	ABHD17B, ALDH1A1 +50 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	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

Search results

Items: 72