"GeneDx"[submitter] AND "FOXC2-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 152881	GRCh38/hg38 16q24.1(chr16:86271377-86672163)x3	FENDRR, FLJ30679 +19 more	Copy number gain	See cases	GUncertain significance
Select item 1245191	NM_005251.3(FOXC2):c.-350G>T	FOXC2, FOXC2-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1311718	NM_005251.3(FOXC2):c.80C>T (p.Ala27Val)	FOXC2, FOXC2-AS1 (A27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449991	NM_005251.3(FOXC2):c.130del (p.His44fs)	FOXC2, FOXC2-AS1 (H44fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 817114	NM_005251.3(FOXC2):c.311_315del (p.Asp104fs)	FOXC2, FOXC2-AS1 (D104fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2294724	NM_005251.3(FOXC2):c.319C>G (p.Pro107Ala)	FOXC2, FOXC2-AS1 (P107A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2501519	NM_005251.3(FOXC2):c.422G>T (p.Gly141Val)	FOXC2, FOXC2-AS1 (G141V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

ClinVar