C2960310[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301900	NM_001451.3(FOXF1):c.179C>T (p.Ala60Val)	FOXF1 (A60V)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 2584540	NM_001451.3(FOXF1):c.185A>C (p.Gln62Pro)	FOXF1 (Q62P)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 2584512	NM_001451.3(FOXF1):c.256C>T (p.Arg86Trp)	FOXF1 (R86W)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 692054	NM_001451.3(FOXF1):c.691_698del (p.Ala231fs)	FOXF1 (A231fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2584476	NM_001451.3(FOXF1):c.797C>A (p.Ser266Ter)	FOXF1 (S266*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 2505284	NM_001451.3(FOXF1):c.1070_1080del (p.His357fs)	FOXF1 (H357fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic

ClinVar