"HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Bi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048613	NM_001453.3(FOXC1):c.387C>A (p.Asn129Lys)	FOXC1 (N129K)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	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 983174	GRCh37/hg19 6p25.3(chr6:152849-1888703)x1	FOXC1, FOXF2 +6 more	Copy number loss	See cases	GPathogenic

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