ClinVar for Gene (Select 442425) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3279504	NM_001013735.1(FOXB2):c.481C>A (p.His161Asn)	FOXB2 (H161N)	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 3279502	NM_001013735.1(FOXB2):c.288G>T (p.Met96Ile)	FOXB2 (M96I)	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 3279500	NM_001013735.1(FOXB2):c.1123G>A (p.Val375Met)	FOXB2 (V375M)	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 3096266	NM_001013735.1(FOXB2):c.915G>T (p.Gln305His)	FOXB2 (Q305H)	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 3096264	NM_001013735.1(FOXB2):c.788C>G (p.Thr263Arg)	FOXB2 (T263R)	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 3096262	NM_001013735.1(FOXB2):c.640C>T (p.Pro214Ser)	FOXB2 (P214S)	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 3096260	NM_001013735.1(FOXB2):c.208T>G (p.Cys70Gly)	FOXB2 (C70G)	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 3096257	NM_001013735.1(FOXB2):c.1003G>C (p.Val335Leu)	FOXB2 (V335L)	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 2622807	NM_001013735.1(FOXB2):c.880G>C (p.Val294Leu)	FOXB2 (V294L)	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 2552717	NM_001013735.1(FOXB2):c.674C>T (p.Ala225Val)	FOXB2 (A225V)	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 2546033	NM_001013735.1(FOXB2):c.1162T>C (p.Ser388Pro)	FOXB2 (S388P)	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 2489977	NM_001013735.1(FOXB2):c.920G>T (p.Gly307Val)	FOXB2 (G307V)	Single nucleotide variant (missense variant)	not specified	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 2483528	NM_001013735.1(FOXB2):c.68C>T (p.Ala23Val)	FOXB2 (A23V)	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 2344811	NM_001013735.1(FOXB2):c.1034G>A (p.Gly345Glu)	FOXB2 (G345E)	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 2321527	NM_001013735.1(FOXB2):c.1027G>A (p.Ala343Thr)	FOXB2 (A343T)	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 2308085	NM_001013735.1(FOXB2):c.337C>A (p.Arg113Ser)	FOXB2 (R113S)	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 2252632	NM_001013735.1(FOXB2):c.998C>A (p.Ala333Asp)	FOXB2 (A333D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +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 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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 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 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	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 144959	GRCh38/hg38 9q21.2(chr9:76996739-77415046)x1	FOXB2, LOC121331330 +6 more	Copy number loss	See cases	GUncertain significance
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +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 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 72