ClinVar for Gene (Select 94234) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2656171	NM_033260.4(FOXQ1):c.302G>A (p.Gly101Asp)	FOXQ1 (G101D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620454	NM_033260.4(FOXQ1):c.357G>C (p.Lys119Asn)	FOXQ1 (K119N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612023	NM_033260.4(FOXQ1):c.349C>T (p.Arg117Trp)	FOXQ1 (R117W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610251	NM_033260.4(FOXQ1):c.874G>C (p.Gly292Arg)	FOXQ1 (G292R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593017	NM_033260.4(FOXQ1):c.29C>A (p.Ala10Glu)	FOXQ1 (A10E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2571270	GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1	SERPINB9, TUBB2A +19 more	Copy number loss	not provided	GPathogenic
Select item 2546118	NM_033260.4(FOXQ1):c.179C>T (p.Thr60Met)	FOXQ1 (T60M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540007	NM_033260.4(FOXQ1):c.786C>G (p.Ser262Arg)	FOXQ1 (S262R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514153	NM_033260.4(FOXQ1):c.158C>T (p.Ala53Val)	FOXQ1 (A53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2409069	NM_033260.4(FOXQ1):c.290G>C (p.Gly97Ala)	FOXQ1 (G97A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408104	NM_033260.4(FOXQ1):c.1088G>C (p.Arg363Pro)	FOXQ1 (R363P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389954	NM_033260.4(FOXQ1):c.707C>T (p.Pro236Leu)	FOXQ1 (P236L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389567	NM_033260.4(FOXQ1):c.64G>A (p.Gly22Ser)	FOXQ1 (G22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388454	NM_033260.4(FOXQ1):c.698C>G (p.Pro233Arg)	FOXQ1 (P233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388453	NM_033260.4(FOXQ1):c.689A>G (p.Glu230Gly)	FOXQ1 (E230G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386299	NM_033260.4(FOXQ1):c.1097C>T (p.Ala366Val)	FOXQ1 (A366V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385321	NM_033260.4(FOXQ1):c.1120T>C (p.Cys374Arg)	FOXQ1 (C374R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380041	NM_033260.4(FOXQ1):c.307G>A (p.Ala103Thr)	FOXQ1 (A103T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365344	NM_033260.4(FOXQ1):c.1123C>T (p.Pro375Ser)	FOXQ1 (P375S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360291	NM_033260.4(FOXQ1):c.1061C>T (p.Pro354Leu)	FOXQ1 (P354L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354176	NM_033260.4(FOXQ1):c.1201C>A (p.Leu401Ile)	FOXQ1 (L401I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351337	NM_033260.4(FOXQ1):c.1043T>C (p.Leu348Pro)	FOXQ1 (L348P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328666	NM_033260.4(FOXQ1):c.737C>T (p.Pro246Leu)	FOXQ1 (P246L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319855	NM_033260.4(FOXQ1):c.899C>T (p.Ala300Val)	FOXQ1 (A300V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319854	NM_033260.4(FOXQ1):c.898G>C (p.Ala300Pro)	FOXQ1 (A300P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318474	NM_033260.4(FOXQ1):c.985G>A (p.Gly329Ser)	FOXQ1 (G329S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312046	NM_033260.4(FOXQ1):c.872C>T (p.Pro291Leu)	FOXQ1 (P291L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302874	NM_033260.4(FOXQ1):c.1084C>T (p.Leu362Phe)	FOXQ1 (L362F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2299858	NM_033260.4(FOXQ1):c.181C>G (p.Gln61Glu)	FOXQ1 (Q61E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287058	NM_033260.4(FOXQ1):c.221C>T (p.Ala74Val)	FOXQ1 (A74V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284411	NM_033260.4(FOXQ1):c.853C>T (p.Arg285Cys)	FOXQ1 (R285C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249707	NM_033260.4(FOXQ1):c.1001T>G (p.Leu334Arg)	FOXQ1 (L334R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213760	NM_033260.4(FOXQ1):c.1187A>C (p.Tyr396Ser)	FOXQ1 (Y396S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 788530	NM_033260.4(FOXQ1):c.387C>T (p.Ala129=)	FOXQ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769313	NM_033260.4(FOXQ1):c.1041C>G (p.Pro347=)	FOXQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768059	NM_033260.4(FOXQ1):c.1013A>G (p.Glu338Gly)	FOXQ1 (E338G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 743235	NM_033260.4(FOXQ1):c.567C>T (p.Gly189=)	FOXQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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
Select item 443697	GRCh37/hg19 6p25.3(chr6:1056251-1608823)x3	FOXF2, FOXQ1	Copy number gain	See cases	GLikely benign
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 443199	GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1	BPHL, C6orf201 +24 more	Copy number loss	See cases	GPathogenic
Select item 442601	GRCh37/hg19 6p25.3(chr6:195229-2117379)x1	DUSP22, EXOC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 442393	GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1	BPHL, C6orf201 +33 more	Copy number loss	See cases	GPathogenic
Select item 441966	GRCh37/hg19 6p25.3(chr6:1305572-1825339)x3	FOXC1, FOXF2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441555	GRCh37/hg19 6p25.3(chr6:156974-2030623)x1	DUSP22, EXOC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 395026	GRCh37/hg19 6p25.3(chr6:815829-1825305)x3	FOXC1, FOXF2 +2 more	Copy number gain	See cases	GPathogenic
Select item 394187	GRCh37/hg19 6p25.3(chr6:1284030-1322348)x3	FOXQ1	Copy number gain	See cases	Gconflicting data from submitters
Select item 393819	GRCh37/hg19 6p25.3(chr6:1295851-1386995)x3	FOXQ1	Copy number gain	See cases	GLikely benign
Select item 375434	GRCh37/hg19 6p25.3(chr6:951385-1832936)x3	GMDS, FOXC1 +2 more	Copy number gain	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 253658	GRCh37/hg19 6p25.3(chr6:180959-2180143)x1	IRF4, GMDS +6 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	PPP1R3G, BPHL +33 more	Copy number loss	See cases	GPathogenic
Select item 242978	GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3	GMDS, DUSP22 +16 more	Copy number gain	Brachydactyly type E1	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	LOC129995520, LOC129995521 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC121106426, LOC121113497 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 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 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC132089500, LOC132090749 +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 154664	GRCh38/hg38 6p25.3(chr6:1093293-1322172)x3	FOXQ1, LINC01394 +3 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC121740636, LOC121740637 +255 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	LOC123575649, LOC123575650 +345 more	Copy number loss	See cases	GPathogenic

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