"GeneDx"[submitter] AND "FOXF1"[gene] - ClinVar

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Items: 23

	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 1236254	NC_000016.10:g.86510208T>C	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1264635	NC_000016.10:g.86510441C>A	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1710679	NM_001451.3(FOXF1):c.257G>C (p.Arg86Pro)	FOXF1 (R86P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2662961	NM_001451.3(FOXF1):c.268C>T (p.Gln90Ter)	FOXF1 (Q90*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3253479	NM_001451.3(FOXF1):c.286G>A (p.Val96Met)	FOXF1 (V96M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 320791	NM_001451.3(FOXF1):c.645C>T (p.His215=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 692054	NM_001451.3(FOXF1):c.691_698del (p.Ala231fs)	FOXF1 (A231fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1303329	NM_001451.3(FOXF1):c.713A>C (p.His238Pro)	FOXF1 (H238P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695721	NM_001451.3(FOXF1):c.899del (p.Leu300fs)	FOXF1 (L300fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 423429	NM_001451.3(FOXF1):c.939del (p.Leu314fs)	FOXF1 (L314fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1273451	NM_001451.3(FOXF1):c.979+302C>G	FOXF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252327	NM_001451.3(FOXF1):c.979+302C>T	FOXF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182763	NM_001451.3(FOXF1):c.980-304T>C	FOXF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281256	NM_001451.3(FOXF1):c.*98A>G	FOXF1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1269725	NM_001451.3(FOXF1):c.*196T>C	FOXF1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 320803	NM_001451.3(FOXF1):c.309_310insT	FOXF1	Insertion (3 prime UTR variant)	Alveolar capillary dysplasia with pulmonary venous misalignment +1 more	GConflicting classifications of pathogenicity
Select item 1232433	NM_001451.3(FOXF1):c.*310C>T	FOXF1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1283468	NM_001451.3(FOXF1):c.*1147T>C	FOXF1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 320831	NM_001451.3(FOXF1):c.1175_1176del	FOXF1	Deletion (3 prime UTR variant)	Alveolar capillary dysplasia with pulmonary venous misalignment +1 more	GBenign
Select item 320830	NM_001451.3(FOXF1):c.*1176del	FOXF1	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

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Items: 23