"Genetics and Molecular Pathology, SA Pathology"[submitter] AND "FOXC1 - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375435	NC_000006.12:g.(?_1610445)_(1612107_?)del	FOXC1, LOC129995601	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
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 375420	NM_001453.3(FOXC1):c.100_109del (p.Gly34fs)	FOXC1 (G34fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
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 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 375422	NM_001453.3(FOXC1):c.268G>A (p.Ala90Thr)	FOXC1, LOC129995601 (A90T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
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	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 375425	NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro)	FOXC1 (T153P)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
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 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 375428	NM_001453.3(FOXC1):c.666_681del (p.Ile223fs)	FOXC1 (I223fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3 +1 more	GPathogenic/Likely pathogenic
Select item 375429	NM_001453.3(FOXC1):c.718_719del (p.Leu240fs)	FOXC1 (L240fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 375430	NM_001453.3(FOXC1):c.925_949del (p.Ser309fs)	FOXC1 (S309fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 375431	NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter)	FOXC1 (S422*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 375432	NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter)	FOXC1 (Y497*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 375434	GRCh37/hg19 6p25.3(chr6:951385-1832936)x3	GMDS, FOXC1 +2 more	Copy number gain	Axenfeld-Rieger syndrome type 3	GPathogenic