ClinVar for Gene (Select 2294) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3096380	NM_001451.3(FOXF1):c.973C>G (p.Leu325Val)	FOXF1 (L325V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096379	NM_001451.3(FOXF1):c.95G>A (p.Gly32Asp)	FOXF1 (G32D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096378	NM_001451.3(FOXF1):c.85G>T (p.Ala29Ser)	FOXF1 (A29S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096377	NM_001451.3(FOXF1):c.70G>A (p.Ala24Thr)	FOXF1 (A24T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055029	NM_001451.3(FOXF1):c.783C>T (p.Ala261=)	FOXF1	Single nucleotide variant (synonymous variant)	FOXF1-related disorder	GLikely benign
Select item 3054465	NM_001451.3(FOXF1):c.784G>T (p.Val262Phe)	FOXF1 (V262F)	Single nucleotide variant (missense variant)	FOXF1-related disorder	GUncertain significance
Select item 3050972	NM_001451.3(FOXF1):c.-4C>T	FOXF1	Single nucleotide variant (5 prime UTR variant)	FOXF1-related disorder	GLikely benign
Select item 3049714	NM_001451.3(FOXF1):c.483C>T (p.Leu161=)	FOXF1	Single nucleotide variant (synonymous variant)	FOXF1-related disorder	GLikely benign
Select item 3048289	NM_001451.3(FOXF1):c.866C>G (p.Pro289Arg)	FOXF1 (P289R)	Single nucleotide variant (missense variant)	FOXF1-related disorder	GUncertain significance
Select item 3039849	NM_001451.3(FOXF1):c.306C>G (p.Leu102=)	FOXF1	Single nucleotide variant (synonymous variant)	FOXF1-related disorder	GLikely benign
Select item 3036954	NM_001451.3(FOXF1):c.578G>C (p.Gly193Ala)	FOXF1 (G193A)	Single nucleotide variant (missense variant)	FOXF1-related disorder	GUncertain significance
Select item 3034409	NM_001451.3(FOXF1):c.*8G>A	FOXF1	Single nucleotide variant (3 prime UTR variant)	FOXF1-related disorder	GLikely benign
Select item 3031358	NM_001451.3(FOXF1):c.*1176dup	FOXF1	Duplication (3 prime UTR variant)	FOXF1-related disorder	GLikely benign
Select item 2997252	NM_001451.3(FOXF1):c.57_58insCCC (p.Gly19_Gly20insPro)	FOXF1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2969839	NM_001451.3(FOXF1):c.650C>G (p.Pro217Arg)	FOXF1 (P217R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965728	NM_001451.3(FOXF1):c.98C>T (p.Pro33Leu)	FOXF1 (P33L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2961539	NM_001451.3(FOXF1):c.682_690del (p.Cys228_Gly230del)	FOXF1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2907581	NM_001451.3(FOXF1):c.32C>A (p.Pro11Gln)	FOXF1 (P11Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897378	NM_001451.3(FOXF1):c.987G>A (p.Pro329=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2895106	NM_001451.3(FOXF1):c.819G>T (p.Ser273=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893793	NM_001451.3(FOXF1):c.573C>T (p.Gly191=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869286	NC_000016.10:g.86184713A>G	FOXF1	Single nucleotide variant	not provided	GUncertain significance
Select item 2851190	NM_001451.3(FOXF1):c.146C>T (p.Pro49Leu)	FOXF1 (P49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814525	NM_001451.3(FOXF1):c.442del (p.Cys148fs)	FOXF1 (C148fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2781677	NM_001451.3(FOXF1):c.273C>T (p.Gly91=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685585	GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1	C16orf74, C16orf95 +25 more	Copy number loss	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 2646946	NM_001451.3(FOXF1):c.36CGG[7] (p.Gly23del)	FOXF1 (G23del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2635136	NM_001451.3(FOXF1):c.310G>T (p.Glu104Ter)	FOXF1 (E104*)	Single nucleotide variant (nonsense)	FOXF1-related disorder	GPathogenic
Select item 2630000	NM_001451.3(FOXF1):c.182T>C (p.Ile61Thr)	FOXF1 (I61T)	Single nucleotide variant (missense variant)	FOXF1-related disorder	GUncertain significance
Select item 2622731	NM_001451.3(FOXF1):c.943C>A (p.His315Asn)	FOXF1 (H315N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609547	NM_001451.3(FOXF1):c.38G>T (p.Gly13Val)	FOXF1 (G13V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2549701	NM_001451.3(FOXF1):c.16G>C (p.Glu6Gln)	FOXF1 (E6Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548334	NM_001451.3(FOXF1):c.1073C>T (p.Ser358Leu)	FOXF1 (S358L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511520	NM_001451.3(FOXF1):c.760G>A (p.Gly254Ser)	FOXF1 (G254S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
Select item 2500699	NM_001451.3(FOXF1):c.21del (p.Lys7fs)	FOXF1 (K7fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 2500035	NM_001451.3(FOXF1):c.166C>T (p.Leu56Phe)	FOXF1 (L56F)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
Select item 2500034	NM_001451.3(FOXF1):c.47_48insGCGGCGGCGGCGGGGGAG (p.Gly16_Gly17insArgArgArgArgGlySer)	FOXF1	Microsatellite (inframe_insertion)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
Select item 2498685	GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1	BANP, C16orf95 +12 more	Copy number loss	not provided	GPathogenic
Select item 2455742	NM_001451.3(FOXF1):c.346C>T (p.Pro116Ser)	FOXF1 (P116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2424361	NC_000016.9:g.(?_85936622)_(86602447_?)dup	FENDRR, FOXC2 +4 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
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 2357727	NM_001451.3(FOXF1):c.771G>T (p.Met257Ile)	FOXF1 (M257I)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment +1 more	GUncertain significance
Select item 2357273	NM_001451.3(FOXF1):c.328C>G (p.Pro110Ala)	FOXF1 (P110A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2332706	NM_001451.3(FOXF1):c.349G>A (p.Gly117Ser)	FOXF1 (G117S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316673	NM_001451.3(FOXF1):c.248C>T (p.Pro83Leu)	FOXF1 (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313693	NM_001451.3(FOXF1):c.1016G>A (p.Cys339Tyr)	FOXF1 (C339Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297847	NM_001451.3(FOXF1):c.641C>T (p.Pro214Leu)	FOXF1 (P214L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283555	NM_001451.3(FOXF1):c.1013T>C (p.Met338Thr)	FOXF1 (M338T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266797	NM_001451.3(FOXF1):c.46G>A (p.Gly16Ser)	FOXF1 (G16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264490	NM_001451.3(FOXF1):c.715C>T (p.His239Tyr)	FOXF1 (H239Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226624	NM_001451.3(FOXF1):c.545C>T (p.Pro182Leu)	FOXF1 (P182L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2173717	NM_001451.3(FOXF1):c.1044C>T (p.Phe348=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068637	NM_001451.3(FOXF1):c.36CGG[5] (p.Gly21_Gly23del)	FOXF1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2062778	NM_001451.3(FOXF1):c.1078G>A (p.Gly360Ser)	FOXF1 (G360S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 1953554	NM_001451.3(FOXF1):c.1085G>C (p.Gly362Ala)	FOXF1 (G362A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950436	NM_001451.3(FOXF1):c.44_45insAGGCGG (p.Gly23_Ala24insGlyGly)	FOXF1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1949934	NM_001451.3(FOXF1):c.36CGG[6] (p.Gly22_Gly23del)	FOXF1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1906516	NM_001451.3(FOXF1):c.903C>T (p.Ser301=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1710679	NM_001451.3(FOXF1):c.257G>C (p.Arg86Pro)	FOXF1 (R86P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1709511	NM_001451.3(FOXF1):c.1070A>T (p.His357Leu)	FOXF1 (H357L)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
Select item 1708313	NM_001451.3(FOXF1):c.260dup (p.Ser88fs)	FOXF1 (S88fs)	Duplication (frameshift variant)	Abnormal cardiac atrium morphology	GPathogenic
Select item 1708273	NM_001451.3(FOXF1):c.191C>T (p.Ser64Leu)	FOXF1 (S64L)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1695721	NM_001451.3(FOXF1):c.899del (p.Leu300fs)	FOXF1 (L300fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1691362	Single allele	FENDRR, FOXF1 +2 more	Deletion	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
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 1594782	NM_001451.3(FOXF1):c.998C>T (p.Ser333Leu)	FOXF1 (S333L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1586163	NM_001451.3(FOXF1):c.696G>T (p.Ala232=)	FOXF1	Single nucleotide variant (synonymous variant)	FOXF1-related disorder +1 more	GLikely benign
Select item 1583730	NM_001451.3(FOXF1):c.895C>A (p.Pro299Thr)	FOXF1 (P299T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1562674	NM_001451.3(FOXF1):c.210G>T (p.Thr70=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1479072	NM_001451.3(FOXF1):c.713A>G (p.His238Arg)	FOXF1 (H238R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448136	NM_001451.3(FOXF1):c.121dup (p.Ala41fs)	FOXF1 (A41fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1437741	NM_001451.3(FOXF1):c.98C>A (p.Pro33Gln)	FOXF1 (P33Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
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 1303329	NM_001451.3(FOXF1):c.713A>C (p.His238Pro)	FOXF1 (H238P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302014	NM_001451.3(FOXF1):c.852_856del (p.Tyr284_Lys286delinsTer)	FOXF1	Deletion (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
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 1300142	NM_001451.3(FOXF1):c.276G>A (p.Trp92Ter)	FOXF1 (W92*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 1283468	NM_001451.3(FOXF1):c.*1147T>C	FOXF1	Single nucleotide variant (3 prime UTR 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 1273451	NM_001451.3(FOXF1):c.979+302C>G	FOXF1	Single nucleotide variant (intron 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 1264635	NC_000016.10:g.86510441C>A	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1252327	NM_001451.3(FOXF1):c.979+302C>T	FOXF1	Single nucleotide variant (intron variant)	not provided	GBenign

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