"Stankiewicz Research Laboratory, Baylor College of Medicine"[submitte - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800366	NM_001451.3(FOXF1):c.89C>A (p.Ser30Ter)	FOXF1 (S30*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800377	NM_001451.3(FOXF1):c.145C>G (p.Pro49Ala)	FOXF1 (P49A)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800365	NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser)	FOXF1 (P49S)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800369	NM_001451.3(FOXF1):c.191C>A (p.Ser64Ter)	FOXF1 (S64*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800371	NM_001451.3(FOXF1):c.221T>A (p.Ile74Asn)	FOXF1 (I74N)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 997015	NM_001451.3(FOXF1):c.238_239del (p.Ser80fs)	FOXF1 (S80fs)	Microsatellite (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800373	NM_001451.3(FOXF1):c.294C>A (p.His98Gln)	FOXF1 (H98Q)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 997014	NM_001451.3(FOXF1):c.302C>T (p.Ser101Leu)	FOXF1 (S101L)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800375	NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu)	FOXF1 (F106L)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800372	NM_001451.3(FOXF1):c.539C>A (p.Ser180Ter)	FOXF1 (S180*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 692054	NM_001451.3(FOXF1):c.691_698del (p.Ala231fs)	FOXF1 (A231fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 800376	NM_001451.3(FOXF1):c.849_850del (p.Ile285fs)	FOXF1 (I285fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800374	NM_001451.3(FOXF1):c.862C>T (p.Gln288Ter)	FOXF1 (Q288*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800367	NM_001451.3(FOXF1):c.872_879del (p.Leu290_Ser291insTer)	FOXF1	Deletion (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 2412745	NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)	FOXF1 (G302fs)	Duplication (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
Select item 800368	NM_001451.3(FOXF1):c.899_903dup (p.Gly302fs)	FOXF1 (G302fs)	Duplication (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800364	NM_001451.3(FOXF1):c.1031_1032del (p.Phe344fs)	FOXF1 (F344fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800370	NM_001451.3(FOXF1):c.1139G>C (p.Ter380Ser)	FOXF1	Single nucleotide variant (stop lost)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic