"GeneDx"[submitter] AND "FOXC1"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 58421	GRCh38/hg38 6p25.3-25.2(chr6:1490636-2700006)x1	FOXC1, FOXCUT +24 more	Copy number loss	See cases	GPathogenic
Select item 58422	GRCh38/hg38 6p25.3(chr6:1605533-1739699)x1	FOXC1, FOXCUT +7 more	Copy number loss	See cases	GPathogenic
Select item 1229415	NM_001453.3(FOXC1):c.-418_-417del	FOXC1, LOC129995600	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1220557	NM_001453.3(FOXC1):c.-417del	FOXC1, LOC129995600	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 2503306	NM_001453.3(FOXC1):c.-303C>T	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1175413	NM_001453.3(FOXC1):c.-244C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 183250	NM_001453.3(FOXC1):c.-244C>T	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 817017	NM_001453.3(FOXC1):c.20dup (p.Ser8fs)	FOXC1 (S8fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1073152	NM_001453.3(FOXC1):c.81_100del (p.Ala28fs)	FOXC1 (A28fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 469652	NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)	FOXC1	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 2000743	NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter)	FOXC1 (Q70*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3 +1 more	GPathogenic
Select item 469650	NM_001453.3(FOXC1):c.216G>A (p.Gln72=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +1 more	GBenign/Likely benign
Select item 265158	NM_001453.3(FOXC1):c.246C>G (p.Ser82Arg)	FOXC1, LOC129995601 (S82R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 426221	NM_001453.3(FOXC1):c.254C>T (p.Ala85Val)	FOXC1, LOC129995601 (A85V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 265478	NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe)	FOXC1, LOC129995601 (L86F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 375423	NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp)	FOXC1, LOC129995601 (A90D)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 375424	NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter)	FOXC1, LOC129995601 (Q106*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3343897	NM_001453.3(FOXC1):c.338C>T (p.Pro113Leu)	FOXC1 (P113L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189173	NM_001453.3(FOXC1):c.372C>G (p.Asn124Lys)	FOXC1 (N124K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 426978	NM_001453.3(FOXC1):c.380G>T (p.Arg127Leu)	FOXC1 (R127L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1711928	NM_001453.3(FOXC1):c.392C>A (p.Ser131Ter)	FOXC1 (S131*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 167085	NM_001453.3(FOXC1):c.405C>T (p.Cys135=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +2 more	GBenign
Select item 1213302	NM_001453.3(FOXC1):c.418C>T (p.Pro140Ser)	FOXC1 (P140S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +2 more	GUncertain significance
Select item 3340293	NM_001453.3(FOXC1):c.446G>A (p.Gly149Asp)	FOXC1 (G149D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136126	NM_001453.3(FOXC1):c.454T>G (p.Trp152Gly)	FOXC1 (W152G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 280066	NM_001453.3(FOXC1):c.456G>A (p.Trp152Ter)	FOXC1 (W152*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1507910	NM_001453.3(FOXC1):c.476ACA[1] (p.Asn160del)	FOXC1 (N160del)	Microsatellite (inframe_deletion)	Axenfeld-Rieger syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 167086	NM_001453.3(FOXC1):c.502C>T (p.Leu168=)	FOXC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1219836	NM_001453.3(FOXC1):c.544G>A (p.Asp182Asn)	FOXC1 (D182N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 375427	NM_001453.3(FOXC1):c.599_617del (p.Gln200fs)	FOXC1 (Q200fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3 +1 more	GPathogenic/Likely pathogenic
Select item 286506	NM_001453.3(FOXC1):c.597C>G (p.Arg199=)	FOXC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1315481	NM_001453.3(FOXC1):c.643G>A (p.Gly215Ser)	FOXC1 (G215S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450920	NM_001453.3(FOXC1):c.772G>T (p.Glu258Ter)	FOXC1 (E258*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3 +1 more	GPathogenic/Likely pathogenic
Select item 30156	NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)	FOXC1 (P297S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 3371313	NM_001453.3(FOXC1):c.910C>T (p.His304Tyr)	FOXC1 (H304Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779750	NM_001453.3(FOXC1):c.962C>A (p.Pro321Gln)	FOXC1 (P321Q)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2430759	NM_001453.3(FOXC1):c.994del (p.Leu332fs)	FOXC1 (L332fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1714205	NM_001453.3(FOXC1):c.1040C>G (p.Pro347Arg)	FOXC1 (P347R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1304064	NM_001453.3(FOXC1):c.1091C>G (p.Pro364Arg)	FOXC1 (P364R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220097	NM_001453.3(FOXC1):c.1102_1109del (p.Thr368fs)	FOXC1 (T368fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 193213	NM_001453.3(FOXC1):c.1124GCG[7] (p.Gly380dup)	FOXC1	Microsatellite (inframe_insertion)	not specified +2 more	GBenign
Select item 1302818	NM_001453.3(FOXC1):c.1124_1125insGCG (p.Gly375_Gly376insArg)	FOXC1	Insertion (inframe_insertion)	not provided	GBenign
Select item 1239669	NM_001453.3(FOXC1):c.1139_1140insGCG (p.Gly380_Ala381insArg)	FOXC1	Insertion (inframe_insertion)	not provided	GBenign
Select item 1247538	NM_001453.3(FOXC1):c.1211C>T (p.Ala404Val)	FOXC1 (A404V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 524031	NM_001453.3(FOXC1):c.1229del (p.Gly410fs)	FOXC1 (G410fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 503971	NM_001453.3(FOXC1):c.1297_1298del (p.Leu433fs)	FOXC1 (L433fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1254101	NM_001453.3(FOXC1):c.1338_1339insCGG (p.His446_Gly447insArg)	FOXC1	Insertion (inframe_insertion)	not provided	GBenign
Select item 598622	NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del)	FOXC1	Microsatellite (inframe_deletion)	Axenfeld-Rieger syndrome type 3 +2 more	GLikely benign
Select item 193212	NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del)	FOXC1 (G456del)	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 1468995	NM_001453.3(FOXC1):c.1351_1352insCCG (p.Gly450_Gly451insAla)	FOXC1	Insertion (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1243373	NM_001453.3(FOXC1):c.1359_1360insCGG (p.Gly453_Gly454insArg)	FOXC1	Insertion (inframe_insertion)	not provided	GBenign
Select item 388537	NM_001453.3(FOXC1):c.1443C>T (p.Asp481=)	FOXC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 698153	NM_001453.3(FOXC1):c.1453T>C (p.Leu485=)	FOXC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2580647	NM_001453.3(FOXC1):c.1464GGC[9] (p.Ala495_Gly496insAlaAlaAla)	FOXC1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1302331	NM_001453.3(FOXC1):c.1464GGC[7] (p.Ala495dup)	FOXC1	Microsatellite (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 594583	NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del)	FOXC1	Microsatellite (inframe_deletion)	Axenfeld-Rieger syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1355457	NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser)	FOXC1 (G496S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +2 more	GUncertain significance
Select item 167087	NM_001453.3(FOXC1):c.1563T>G (p.Ser521=)	FOXC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1304300	NM_001453.3(FOXC1):c.1621C>G (p.Arg541Gly)	FOXC1 (R541G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258672	NM_001453.3(FOXC1):c.*52G>A	FOXC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1181503	NM_001453.3(FOXC1):c.*105C>A	FOXC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1526349	NM_001453.3(FOXC1):c.*576A>C	FOXC1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 3360489	NM_001453.3(FOXC1):c.1048C>T (p.Leu350Phe)	FOXC1 (L350F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360488	NM_001453.3(FOXC1):c.883C>T (p.Pro295Ser)	FOXC1 (P295S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676337	NM_001453.3(FOXC1):c.*547G>A	FOXC1	Single nucleotide variant	not provided	GLikely benign

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Items: 70