FOXC1[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 516

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687317	NM_001453.3(FOXC1):c.4C>T (p.Gln2Ter)	FOXC1 (Q2*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 1673473	NM_001453.3(FOXC1):c.9G>T (p.Ala3=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related condition +1 more	GLikely benign
Select item 2162400	NM_001453.3(FOXC1):c.18C>T (p.Ser6=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1569289	NM_001453.3(FOXC1):c.18C>G (p.Ser6=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 817017	NM_001453.3(FOXC1):c.20dup (p.Ser8fs)	FOXC1 (S8fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 747195	NM_001453.3(FOXC1):c.24C>T (p.Ser8=)	FOXC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919444	NM_001453.3(FOXC1):c.27C>T (p.Ser9=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1398433	NM_001453.3(FOXC1):c.32A>G (p.Asn11Ser)	FOXC1 (N11S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2802857	NM_001453.3(FOXC1):c.34T>A (p.Ser12Thr)	FOXC1 (S12T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2025489	NM_001453.3(FOXC1):c.36C>G (p.Ser12=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1481297	NM_001453.3(FOXC1):c.37C>G (p.Leu13Val)	FOXC1 (L13V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 591840	NM_001453.3(FOXC1):c.38T>G (p.Leu13Arg)	FOXC1 (L13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804282	NM_001453.3(FOXC1):c.39G>A (p.Leu13=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2065703	NM_001453.3(FOXC1):c.41G>A (p.Gly14Glu)	FOXC1 (G14E)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2983621	NM_001453.3(FOXC1):c.49C>T (p.Pro17Ser)	FOXC1 (P17S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1071356	NM_001453.3(FOXC1):c.51del (p.Tyr18fs)	FOXC1 (Y18fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2682915	NM_001453.3(FOXC1):c.55C>T (p.Leu19Phe)	FOXC1 (L19F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177605	NM_001453.3(FOXC1):c.58G>A (p.Gly20Ser)	FOXC1 (G20S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1377970	NM_001453.3(FOXC1):c.61G>T (p.Gly21Cys)	FOXC1 (G21C)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1693137	NM_001453.3(FOXC1):c.65dup (p.Gln23fs)	FOXC1 (Q23fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 8455	NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter)	FOXC1 (Q23*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1073152	NM_001453.3(FOXC1):c.81_100del (p.Ala28fs)	FOXC1 (A28fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3 +1 more	GPathogenic/Likely pathogenic
Select item 193208	NM_001453.3(FOXC1):c.78C>T (p.Tyr26=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 469652	NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)	FOXC1	Microsatellite (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 2582224	NM_001453.3(FOXC1):c.90del (p.Ala31fs)	FOXC1 (A31fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 973775	NM_001453.3(FOXC1):c.89C>T (p.Ala30Val)	FOXC1 (A30V)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GUncertain significance
Select item 1572538	NM_001453.3(FOXC1):c.90C>G (p.Ala30=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1698748	NM_001453.3(FOXC1):c.99_108del (p.Gly34fs)	FOXC1 (G34fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3096273	NM_001453.3(FOXC1):c.94G>A (p.Ala32Thr)	FOXC1 (A32T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611060	NM_001453.3(FOXC1):c.98C>T (p.Ala33Val)	FOXC1 (A33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2755662	NM_001453.3(FOXC1):c.104del (p.Gly35fs)	FOXC1 (G35fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 375420	NM_001453.3(FOXC1):c.100_109del (p.Gly34fs)	FOXC1 (G34fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1420784	NM_001453.3(FOXC1):c.103G>A (p.Gly35Ser)	FOXC1 (G35S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2635518	NM_001453.3(FOXC1):c.104_105delinsT (p.Gly35fs)	FOXC1 (G35fs)	Indel (frameshift variant)	FOXC1-related condition	GLikely pathogenic
Select item 2017556	NM_001453.3(FOXC1):c.104_105insT (p.Gly36fs)	FOXC1 (G36fs)	Insertion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1942057	NM_001453.3(FOXC1):c.105C>T (p.Gly35=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related condition +1 more	GLikely benign
Select item 1925528	NM_001453.3(FOXC1):c.107G>A (p.Gly36Asp)	FOXC1 (G36D)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2713006	NM_001453.3(FOXC1):c.108C>G (p.Gly36=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 375421	NM_001453.3(FOXC1):c.116_123del (p.Ala39fs)	FOXC1 (A39fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 286637	NM_001453.3(FOXC1):c.114C>T (p.Thr38=)	FOXC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2049419	NM_001453.3(FOXC1):c.115G>T (p.Ala39Ser)	FOXC1 (A39S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2024317	NM_001453.3(FOXC1):c.122C>G (p.Pro41Arg)	FOXC1 (P41R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3096269	NM_001453.3(FOXC1):c.125C>T (p.Ala42Val)	FOXC1 (A42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2822575	NM_001453.3(FOXC1):c.129C>T (p.Pro43=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2024333	NM_001453.3(FOXC1):c.135dup (p.Val46fs)	FOXC1 (V46fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1975777	NM_001453.3(FOXC1):c.134G>A (p.Ser45Asn)	FOXC1 (S45N)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 100687	NM_001453.3(FOXC1):c.141C>G (p.Tyr47Ter)	FOXC1 (Y47*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1458299	NM_001453.3(FOXC1):c.143C>A (p.Ser48Ter)	FOXC1 (S48*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 705710	NM_001453.3(FOXC1):c.144G>T (p.Ser48=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 501247	NM_001453.3(FOXC1):c.147C>T (p.His49=)	FOXC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2161709	NM_001453.3(FOXC1):c.148C>T (p.Pro50Ser)	FOXC1 (P50S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 8451	NM_001453.3(FOXC1):c.153_163del (p.His52fs)	FOXC1 (H52fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 3	GPathogenic
Select item 2994890	NM_001453.3(FOXC1):c.155A>G (p.His52Arg)	FOXC1 (H52R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2996143	NM_001453.3(FOXC1):c.159C>G (p.Ala53=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 729538	NM_001453.3(FOXC1):c.159C>T (p.Ala53=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1710332	NM_001453.3(FOXC1):c.161del (p.Glu54fs)	FOXC1 (E54fs)	Deletion (frameshift variant)	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	GPathogenic
Select item 2061918	NM_001453.3(FOXC1):c.163C>T (p.Gln55Ter)	FOXC1 (Q55*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1411042	NM_001453.3(FOXC1):c.169C>T (p.Pro57Ser)	FOXC1 (P57S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 2018387	NM_001453.3(FOXC1):c.173del (p.Gly58fs)	FOXC1 (G58fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 193205	NM_001453.3(FOXC1):c.171G>C (p.Pro57=)	FOXC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1693138	NM_001453.3(FOXC1):c.176dup (p.Met60fs)	FOXC1 (M60fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1687396	NM_001453.3(FOXC1):c.174del (p.Gly59fs)	FOXC1 (G59fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 2898918	NM_001453.3(FOXC1):c.175G>A (p.Gly59Ser)	FOXC1 (G59S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1344727	NM_001453.3(FOXC1):c.176G>T (p.Gly59Val)	FOXC1 (G59V)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 2727823	NM_001453.3(FOXC1):c.182C>T (p.Ala61Val)	FOXC1 (A61V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1932606	NM_001453.3(FOXC1):c.184C>T (p.Arg62Cys)	FOXC1 (R62C)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2184281	NM_001453.3(FOXC1):c.185G>A (p.Arg62His)	FOXC1 (R62H)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2776108	NM_001453.3(FOXC1):c.192C>T (p.Tyr64=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 430705	NM_001453.3(FOXC1):c.192C>G (p.Tyr64Ter)	FOXC1 (Y64*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 698006	NM_001453.3(FOXC1):c.195G>A (p.Gly65=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2161498	NM_001453.3(FOXC1):c.198C>T (p.Pro66=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2577527	NM_001453.3(FOXC1):c.200A>G (p.Tyr67Cys)	FOXC1 (Y67C)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GUncertain significance
Select item 1344728	NM_001453.3(FOXC1):c.207GCAGCC[3] (p.70QP[3])	FOXC1	Microsatellite (inframe_insertion)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 857469	NM_001453.3(FOXC1):c.205C>G (p.Pro69Ala)	FOXC1 (P69A)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2026632	NM_001453.3(FOXC1):c.206C>T (p.Pro69Leu)	FOXC1 (P69L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 705717	NM_001453.3(FOXC1):c.207G>T (p.Pro69=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GBenign
Select item 2000743	NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter)	FOXC1 (Q70*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 469650	NM_001453.3(FOXC1):c.216G>A (p.Gln72=)	FOXC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1953423	NM_001453.3(FOXC1):c.223G>A (p.Asp75Asn)	FOXC1 (D75N)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 716557	NM_001453.3(FOXC1):c.333C>T (p.Arg111=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +1 more	GBenign
Select item 1333591	NM_001453.3(FOXC1):c.337_339dup (p.Pro113dup)	FOXC1	Duplication (inframe_insertion)	Anterior segment dysgenesis 3	GUncertain significance
Select item 8454	NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser)	FOXC1 (F112S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1962426	NM_001453.3(FOXC1):c.342C>T (p.Phe114=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 640532	NM_001453.3(FOXC1):c.344A>G (p.Tyr115Cys)	FOXC1 (Y115C)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 495293	NM_001453.3(FOXC1):c.349del (p.Asp117fs)	FOXC1 (D117fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 3	GPathogenic
Select item 1545461	NM_001453.3(FOXC1):c.351C>T (p.Asp117=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +1 more	GLikely benign
Select item 1693140	NM_001453.3(FOXC1):c.354del (p.Asn118fs)	FOXC1 (N118fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 537386	NM_001453.3(FOXC1):c.356A>G (p.Lys119Arg)	FOXC1 (K119R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 8461	NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter)	FOXC1 (Q120*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 666565	NM_001453.3(FOXC1):c.361G>A (p.Gly121Ser)	FOXC1 (G121S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 287015	NM_001453.3(FOXC1):c.363C>T (p.Gly121=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +2 more	GUncertain significance
Select item 1690401	NM_001453.3(FOXC1):c.364T>G (p.Trp122Gly)	FOXC1 (W122G)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1693141	NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)	FOXC1 (W122*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 858712	NM_001453.3(FOXC1):c.367C>T (p.Gln123Ter)	FOXC1 (Q123*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2057648	NM_001453.3(FOXC1):c.372C>T (p.Asn124=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1189173	NM_001453.3(FOXC1):c.372C>G (p.Asn124Lys)	FOXC1 (N124K)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 469651	NM_001453.3(FOXC1):c.375C>T (p.Ser125=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 100688	NM_001453.3(FOXC1):c.377T>G (p.Ile126Ser)	FOXC1 (I126S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2170860	NM_001453.3(FOXC1):c.378C>A (p.Ile126=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 8453	NM_001453.3(FOXC1):c.378C>G (p.Ile126Met)	FOXC1 (I126M)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GPathogenic

<< First< Prev

Page of 6