FOXF2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +823 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +258 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	BPHL, C6orf201 +279 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995555, LOC129995556 +641 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	BPHL, C6orf201 +307 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +307 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +287 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995829, LOC129995830 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995745, LOC129995746 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	BPHL, C6orf201 +255 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	BPHL, C6orf201 +255 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +345 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC132090751, LOC132090752 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +211 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC132089486, LOC132089487 +435 more	Copy number gain	See cases	GPathogenic
Select item 146312	GRCh38/hg38 6p25.3(chr6:163083-2029531)x3	DUSP22, EXOC2 +118 more	Copy number gain	See cases	GPathogenic
Select item 58408	GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1	DUSP22, EXOC2 +127 more	Copy number loss	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	BPHL, C6orf201 +301 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC126859561, LOC126859562 +305 more	Copy number loss	See cases	GPathogenic
Select item 57019	GRCh38/hg38 6p25.3(chr6:163083-1951351)x3	DUSP22, EXOC2 +116 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	SERPINB9-AS1, SLC22A23 +571 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +300 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +310 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +431 more	Copy number loss	See cases	GPathogenic
Select item 151605	GRCh38/hg38 6p25.3(chr6:170426-1621983)x1	DUSP22, EXOC2 +108 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 more	Copy number gain	See cases	GPathogenic
Select item 154994	GRCh38/hg38 6p25.3(chr6:1365202-1627578)x3	FOXC1, FOXCUT +13 more	Copy number gain	See cases	GUncertain significance
Select item 3096381	NM_001452.2(FOXF2):c.10G>A (p.Glu4Lys)	FOXF2 (E4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096385	NM_001452.2(FOXF2):c.13G>A (p.Gly5Ser)	FOXF2 (G5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306370	NM_001452.2(FOXF2):c.44C>T (p.Ala15Val)	FOXF2 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540749	NM_001452.2(FOXF2):c.52C>A (p.Pro18Thr)	FOXF2 (P18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359612	NM_001452.2(FOXF2):c.58C>T (p.Pro20Ser)	FOXF2 (P20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096388	NM_001452.2(FOXF2):c.77C>T (p.Ala26Val)	FOXF2 (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055662	NM_001452.2(FOXF2):c.97GCC[10] (p.Ala41_Pro42insAla)	FOXF2	Microsatellite (inframe insertion)	FOXF2-related disorder	GBenign
Select item 3055285	NM_001452.2(FOXF2):c.97GCC[8] (p.Ala41del)	FOXF2 (A41del)	Microsatellite (inframe deletion)	FOXF2-related disorder	GBenign
Select item 3047212	NM_001452.2(FOXF2):c.97GCC[5] (p.Ala38_Ala41del)	FOXF2	Microsatellite (inframe deletion)	FOXF2-related disorder	GLikely benign
Select item 3041547	NM_001452.2(FOXF2):c.97GCC[6] (p.Ala39_Ala41del)	FOXF2	Microsatellite (inframe deletion)	FOXF2-related disorder	GLikely benign
Select item 3045896	NM_001452.2(FOXF2):c.121G>T (p.Ala41Ser)	FOXF2 (A41S)	Single nucleotide variant (missense variant)	FOXF2-related disorder	GLikely benign
Select item 3031764	NM_001452.2(FOXF2):c.126G>A (p.Pro42=)	FOXF2	Single nucleotide variant (synonymous variant)	FOXF2-related disorder	GLikely benign
Select item 2598819	NM_001452.2(FOXF2):c.127G>C (p.Glu43Gln)	FOXF2 (E43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351336	NM_001452.2(FOXF2):c.199A>T (p.Ser67Cys)	FOXF2 (S67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055942	NM_001452.2(FOXF2):c.203C>T (p.Ala68Val)	FOXF2 (A68V)	Single nucleotide variant (missense variant)	FOXF2-related disorder	GLikely benign
Select item 3044929	NM_001452.2(FOXF2):c.240C>T (p.Gly80=)	FOXF2	Single nucleotide variant (synonymous variant)	FOXF2-related disorder	GLikely benign
Select item 2219953	NM_001452.2(FOXF2):c.260G>A (p.Gly87Asp)	FOXF2 (G87D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031696	NM_001452.2(FOXF2):c.375G>A (p.Glu125=)	FOXF2, MIR6720	Single nucleotide variant (non-coding transcript variant +1 more)	FOXF2-related disorder	GLikely benign
Select item 3036232	NM_001452.2(FOXF2):c.447C>T (p.Arg149=)	FOXF2, MIR6720	Single nucleotide variant (non-coding transcript variant +1 more)	FOXF2-related disorder	GLikely benign
Select item 3096386	NM_001452.2(FOXF2):c.547A>G (p.Met183Val)	FOXF2 (M183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381748	NM_001452.2(FOXF2):c.616A>T (p.Met206Leu)	FOXF2 (M206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259928	NM_001452.2(FOXF2):c.625C>A (p.Arg209Ser)	FOXF2 (R209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292604	NM_001452.2(FOXF2):c.652G>A (p.Ala218Thr)	FOXF2 (A218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057858	NM_001452.2(FOXF2):c.663G>A (p.Leu221=)	FOXF2	Single nucleotide variant (synonymous variant)	FOXF2-related disorder	GLikely benign
Select item 3096387	NM_001452.2(FOXF2):c.741C>A (p.Asp247Glu)	FOXF2 (D247E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056857	NM_001452.2(FOXF2):c.796CAC[6] (p.His272del)	FOXF2 (H272del)	Microsatellite (inframe deletion)	FOXF2-related disorder	GLikely benign
Select item 2624334	NM_001452.2(FOXF2):c.799C>T (p.His267Tyr)	FOXF2 (H267Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033923	NM_001452.2(FOXF2):c.812A>G (p.His271Arg)	FOXF2 (H271R)	Single nucleotide variant (missense variant)	FOXF2-related disorder	GLikely benign
Select item 2335075	NM_001452.2(FOXF2):c.839C>T (p.Pro280Leu)	FOXF2 (P280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096389	NM_001452.2(FOXF2):c.841G>A (p.Gly281Ser)	FOXF2 (G281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520005	NM_001452.2(FOXF2):c.887G>A (p.Gly296Asp)	FOXF2 (G296D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156707	NM_001452.2(FOXF2):c.899C>G (p.Ala300Gly)	FOXF2 (A300G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3096390	NM_001452.2(FOXF2):c.942C>A (p.Ser314Arg)	FOXF2 (S314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096382	NM_001452.2(FOXF2):c.1133A>G (p.Gln378Arg)	FOXF2 (Q378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334281	NM_001452.2(FOXF2):c.1177C>A (p.Leu393Met)	FOXF2 (L393M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608018	NM_001452.2(FOXF2):c.1259A>G (p.His420Arg)	FOXF2 (H420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656172	NM_001452.2(FOXF2):c.1272C>T (p.Ser424=)	FOXF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3096383	NM_001452.2(FOXF2):c.1273G>A (p.Gly425Arg)	FOXF2 (G425R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096384	NM_001452.2(FOXF2):c.1303G>C (p.Val435Leu)	FOXF2 (V435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403501	NM_001452.2(FOXF2):c.1304T>A (p.Val435Asp)	FOXF2 (V435D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039669	NM_001452.2(FOXF2):c.1323C>A (p.Pro441=)	FOXF2	Single nucleotide variant (synonymous variant)	FOXF2-related disorder	GBenign
Select item 3050000	NM_001452.2(FOXF2):c.*2C>A	FOXF2	Single nucleotide variant (3 prime UTR variant)	FOXF2-related disorder	GBenign
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 3062926	GRCh37/hg19 6p25.3(chr6:192543-1445812)x3	DUSP22, EXOC2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 2685193	GRCh37/hg19 6p25.3(chr6:647204-1716710)x1	EXOC2, FOXC1 +4 more	Copy number loss	not provided	GPathogenic
Select item 2685192	GRCh37/hg19 6p25.3(chr6:156975-2072578)x1	DUSP22, EXOC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 2684440	GRCh37/hg19 6p25.3(chr6:1286450-1645873)x3	FOXC1, FOXF2 +2 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2571270	GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1	BPHL, EXOC2 +19 more	Copy number loss	not provided	GPathogenic
Select item 2506536	GRCh37/hg19 6p25.3(chr6:491126-1624775)	EXOC2, FOXC1 +4 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1808724	GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	BPHL, DUSP22 +19 more	Copy number loss	not provided	GPathogenic
Select item 1676308	GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1	BPHL, EXOC2 +18 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1527213	GRCh37/hg19 6p25.3(chr6:1174490-1545474)	FOXF2, FOXQ1	Copy number gain	not specified	GUncertain significance
Select item 1527212	GRCh37/hg19 6p25.3-25.2(chr6:383951-3898619)	BPHL, EXOC2 +20 more	Copy number loss	not specified	GPathogenic
Select item 1340925	GRCh37/hg19 6p25.3(chr6:1316161-1560121)x3	FOXF2	Copy number gain	not provided	GUncertain significance
Select item 1180550	GRCh37/hg19 6p25.3-25.2(chr6:149619-3951208)x3	BPHL, DUSP22 +21 more	Copy number gain	not provided	GPathogenic
Select item 983174	GRCh37/hg19 6p25.3(chr6:152849-1888703)x1	FOXC1, FOXF2 +6 more	Copy number loss	See cases	GPathogenic
Select item 980203	GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3	TUBB2A, DUSP22 +19 more	Copy number gain	not provided	GPathogenic
Select item 973777	GRCh37/hg19 6p25.3(chr6:1347995-1713458)x3	FOXC1, FOXF2 +2 more	Copy number gain	Late onset congenital glaucoma	GPathogenic
Select item 973776	GRCh37/hg19 6p25.3(chr6:1318643-1837594)x3	FOXC1, FOXF2 +2 more	Copy number gain	Anterior segment dysgenesis 3	GPathogenic
Select item 814770	GRCh37/hg19 6p25.3(chr6:1282531-1560121)x3	FOXF2, FOXQ1	Copy number gain	not provided	GUncertain significance
Select item 814767	GRCh37/hg19 6p25.3(chr6:156974-2208360)x1	HUS1B, EXOC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563143	GRCh37/hg19 6p25.3(chr6:1361060-1616265)x3	FOXC1, FOXF2	Copy number gain	not provided	GUncertain significance
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 563138	GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1	HUS1B, SERPINB6 +19 more	Copy number loss	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic

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