"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FOXC1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 469653	NM_001453.3(FOXC1):c.532G>C (p.Asp178His)	FOXC1 (D178H)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +2 more	GUncertain significance
Select item 1365113	NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del)	FOXC1 (E185del)	Microsatellite (inframe_deletion)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
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 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 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 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 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 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 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 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 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 1400670	NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr)	FOXC1 (S370T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +2 more	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 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 1407296	NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser)	FOXC1 (P416S)	Single nucleotide variant (missense variant)	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)	Anterior segment dysgenesis 3 +1 more	GUncertain significance
Select item 1484908	NM_001453.3(FOXC1):c.1267G>A (p.Ala423Thr)	FOXC1 (A423T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1362485	NM_001453.3(FOXC1):c.1323GTC[1] (p.Ser443del)	FOXC1 (S443del)	Microsatellite (inframe_deletion)	Anterior segment dysgenesis 3 +1 more	GUncertain significance
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 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 579392	NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg)	FOXC1 (Q457R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 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 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 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

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Items: 27