Related gene-specific medical variations for Gene (Select 2294) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238843	NM_001451.3(FOXF1):c.298C>G (p.Leu100Val)	FOXF1 (L100V)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 3238755	NM_001451.3(FOXF1):c.1138T>A (p.Ter380Arg)	FOXF1	Single nucleotide variant (stop lost)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 3235920	NM_001451.3(FOXF1):c.802_805del (p.Ala268fs)	FOXF1 (A268fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 2869286	NC_000016.10:g.86184713A>G	FOXF1	Single nucleotide variant	not provided	GUncertain significance
Select item 2441541	NM_001451.3(FOXF1):c.602G>A (p.Gly201Asp)	FOXF1 (G201D)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
Select item 2440307	NM_001451.3(FOXF1):c.841_862del (p.Gly281fs)	FOXF1 (G281fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 1971649	NC_000016.10:g.86182983T>C	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1970978	NC_000016.10:g.86184637G>C	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1660345	NC_000016.10:g.86183013C>T	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1659990	NC_000016.10:g.86186838T>C	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1634126	NC_000016.10:g.86186622T>G	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1603399	NC_000016.10:g.86184895G>A	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1597756	NC_000016.10:g.86184620G>A	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1322932	NM_001451.3(FOXF1):c.889del (p.Ala297fs)	FOXF1 (A297fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 560714	NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys)	FOXF1	Single nucleotide variant (stop lost)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 132838	NM_001451.3(FOXF1):c.416G>A (p.Arg139Gln)	FOXF1 (R139Q)	Single nucleotide variant (missense variant)	Pyloric stenosis, infantile hypertrophic, 5	GLikely pathogenic