ClinVar for MedGen (Select 355748) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236698	NM_001453.3(FOXC1):c.235C>A (p.Pro79Thr)	FOXC1, LOC129995601 (P79T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GPathogenic
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 1954252	NM_001453.3(FOXC1):c.1039C>T (p.Pro347Ser)	FOXC1 (P347S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3 +1 more	GUncertain significance
Select item 1687309	NM_001453.3(FOXC1):c.241_243del (p.Tyr81del)	FOXC1, LOC129995601 (Y81del)	Deletion (inframe_deletion)	Anterior segment dysgenesis 3	GUncertain significance
Select item 1685825	NM_001453.3(FOXC1):c.398_401del (p.Asn133fs)	FOXC1 (N133fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 3	GPathogenic
Select item 1567057	NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg)	FOXC1 (S445R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GBenign/Likely benign
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 1510965	NM_001453.3(FOXC1):c.1161_1169dup (p.386GAG[3])	FOXC1	Duplication (inframe_insertion)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1484908	NM_001453.3(FOXC1):c.1267G>A (p.Ala423Thr)	FOXC1 (A423T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3 +1 more	GUncertain significance
Select item 1431367	NM_001453.3(FOXC1):c.808G>C (p.Gly270Arg)	FOXC1 (G270R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1426265	NM_001453.3(FOXC1):c.784AGC[3] (p.Ser265_Ser266del)	FOXC1	Microsatellite (inframe_deletion)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1407296	NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser)	FOXC1 (P416S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +2 more	GUncertain significance
Select item 1401522	NM_001453.3(FOXC1):c.1469C>T (p.Ala490Val)	FOXC1 (A490V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1400670	NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr)	FOXC1 (S370T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1381106	NM_001453.3(FOXC1):c.1596_1623del (p.Phe533fs)	FOXC1 (F533fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1381097	NM_001453.3(FOXC1):c.886G>T (p.Ala296Ser)	FOXC1 (A296S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1369608	NM_001453.3(FOXC1):c.784AGC[6] (p.Ser266dup)	FOXC1	Microsatellite (inframe_insertion)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1365113	NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del)	FOXC1 (E185del)	Microsatellite (inframe_deletion)	Anterior segment dysgenesis 3 +1 more	GUncertain significance
Select item 1362485	NM_001453.3(FOXC1):c.1323GTC[1] (p.Ser443del)	FOXC1 (S443del)	Microsatellite (inframe_deletion)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1358814	NM_001453.3(FOXC1):c.1253G>T (p.Gly418Val)	FOXC1 (G418V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1351505	NM_001453.3(FOXC1):c.869C>T (p.Ser290Phe)	FOXC1 (S290F)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +2 more	GUncertain significance
Select item 1344730	NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del)	FOXC1	Deletion (inframe_deletion)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1333607	NM_001453.3(FOXC1):c.454T>C (p.Trp152Arg)	FOXC1 (W152R)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GUncertain significance
Select item 1333591	NM_001453.3(FOXC1):c.337_339dup (p.Pro113dup)	FOXC1	Duplication (inframe_insertion)	Anterior segment dysgenesis 3	GUncertain significance
Select item 1299232	NM_001453.3(FOXC1):c.1337A>G (p.His446Arg)	FOXC1 (H446R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
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 1175734	NM_001453.3(FOXC1):c.1600C>T (p.Pro534Ser)	FOXC1 (P534S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +2 more	GUncertain significance
Select item 992653	NM_001453.3(FOXC1):c.1157del (p.Gly386fs)	FOXC1 (G386fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3 +1 more	GLikely pathogenic
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 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 940945	NM_001453.3(FOXC1):c.1124GCG[4] (p.Gly379_Gly380del)	FOXC1	Microsatellite (inframe_deletion)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 579392	NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg)	FOXC1 (Q457R)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3 +1 more	GUncertain significance
Select item 501074	NM_001453.3(FOXC1):c.1015T>C (p.Ser339Pro)	FOXC1 (S339P)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +2 more	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 469653	NM_001453.3(FOXC1):c.532G>C (p.Asp178His)	FOXC1 (D178H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 375429	NM_001453.3(FOXC1):c.718_719del (p.Leu240fs)	FOXC1 (L240fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3 +1 more	GPathogenic
Select item 375426	NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter)	FOXC1 (E163*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 3	GPathogenic
Select item 287385	NM_001453.3(FOXC1):c.593_610del (p.Gly198_Pro203del)	FOXC1	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
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 286661	NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu)	FOXC1 (P355L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 93747	NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup)	FOXC1	Microsatellite (inframe_insertion)	Anterior segment dysgenesis 3 +2 more	GBenign
Select item 30156	NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)	FOXC1 (P297S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +2 more	GBenign
Select item 8459	NM_001453.3(FOXC1):c.261C>G (p.Ile87Met)	FOXC1, LOC129995601 (I87M)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GPathogenic
Select item 8457	FOXC1, 22-BP INS, NT26	FOXC1	Insertion	Anterior segment dysgenesis 3	GPathogenic
Select item 8456	FOXC1, DUP	FOXC1	Duplication	Anterior segment dysgenesis 3	GPathogenic
Select item 8453	NM_001453.3(FOXC1):c.378C>G (p.Ile126Met)	FOXC1 (I126M)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GPathogenic
Select item 8452	NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu)	FOXC1 (S131L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 8451	NM_001453.3(FOXC1):c.153_163del (p.His52fs)	FOXC1 (H52fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 3	GPathogenic

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Items: 49