ClinVar for MedGen (Select 755478) - ClinVar

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Items: 78

	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 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 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 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 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 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 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 1322932	NM_001451.3(FOXF1):c.889del (p.Ala297fs)	FOXF1 (A297fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
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 1033844	NM_001451.3(FOXF1):c.-2C>T	FOXF1	Single nucleotide variant (5 prime UTR variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
Select item 1030400	NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter)	FOXF1 (S223*)	Single nucleotide variant (nonsense)	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 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 977493	NM_001451.3(FOXF1):c.927G>T (p.Leu309=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 977106	NM_001451.3(FOXF1):c.579C>A (p.Gly193=)	FOXF1	Single nucleotide variant (synonymous variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely benign
Select item 977105	NM_001451.3(FOXF1):c.780_781delinsTC (p.Ala261Pro)	FOXF1 (A261P)	Indel (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely benign
Select item 975044	Single allele	ADAD2, DNAAF1 +26 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 975043	NM_001451.3(FOXF1):c.965del (p.Pro322fs)	FOXF1 (P322fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 975042	NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys)	FOXF1 (Y89C)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 975041	NM_001451.3(FOXF1):c.286G>T (p.Val96Leu)	FOXF1 (V96L)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 973755	NM_001451.3(FOXF1):c.57_60del (p.Gly20fs)	FENDRR, FOXF1 (G20fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 916531	NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu)	FOXF1 (F85L)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 916530	NM_001451.3(FOXF1):c.1057_1078dup (p.Gly360fs)	FOXF1 (G360fs)	Duplication (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 869495	NC_000016.9:g.86243180_87703229del	FBXO31, ZCCHC14-DT +9 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 869494	NC_000016.9:g.86144118_86289385del	LINC01082	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 869493	NC_000016.9:g.86137629_86287477del	LINC01082	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 869492	NM_001451.3(FOXF1):c.950del (p.Asn317fs)	FOXF1 (N317fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 869491	NM_001451.3(FOXF1):c.166C>G (p.Leu56Val)	FOXF1 (L56V)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 816907	NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro)	FOXF1 (R138P)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 813309	GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)	C16orf74, C16orf95 +20 more	Copy number loss	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 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 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 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 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 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 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 800370	NM_001451.3(FOXF1):c.1139G>C (p.Ter380Ser)	FOXF1	Single nucleotide variant (stop lost)	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 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 800367	NM_001451.3(FOXF1):c.872_879del (p.Leu290_Ser291insTer)	FOXF1	Deletion (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
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 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 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 734939	NM_001451.3(FOXF1):c.969C>A (p.Ala323=)	FOXF1	Single nucleotide variant (synonymous variant)	Alveolar capillary dysplasia with pulmonary venous misalignment +1 more	GLikely benign
Select item 692054	NM_001451.3(FOXF1):c.691_698del (p.Ala231fs)	FOXF1 (A231fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 689467	NM_001451.3(FOXF1):c.1083G>A (p.Gly361=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 689448	NM_001451.3(FOXF1):c.636G>C (p.Ser212=)	FOXF1	Single nucleotide variant (synonymous variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
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 374061	NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)	FOXF1 (N94Y)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment +3 more	GLikely pathogenic
Select item 320835	NM_001451.3(FOXF1):c.*1298dup	FOXF1	Duplication (3 prime UTR variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
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 320810	NM_001451.3(FOXF1):c.471_472dup	FOXF1	Duplication (3 prime UTR variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
Select item 320809	NM_001451.3(FOXF1):c.*472dup	FOXF1	Duplication (3 prime UTR variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GBenign
Select item 320804	NM_001451.3(FOXF1):c.310_311insT	FOXF1	Insertion (3 prime UTR variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
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 320800	NM_001451.3(FOXF1):c.*123dup	FOXF1	Duplication (3 prime UTR variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
Select item 320792	NM_001451.3(FOXF1):c.908G>A (p.Ser303Asn)	FOXF1 (S303N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 320791	NM_001451.3(FOXF1):c.645C>T (p.His215=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 320787	NM_001451.3(FOXF1):c.60_62del (p.Gly23del)	FOXF1 (G23del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320786	NM_001451.3(FOXF1):c.36CGG[9] (p.Gly23dup)	FOXF1	Microsatellite (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 267798	46;XY;t(9;16)(p24;q22)dn		Translocation	Alveolar capillary dysplasia with pulmonary venous misalignment +5 more	GPathogenic
Select item 226642	NM_001451.3(FOXF1):c.873C>T (p.Ser291=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 8464	NM_001451.3(FOXF1):c.850dup (p.Tyr284fs)	FOXF1 (Y284fs)	Duplication (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 8463	NM_001451.3(FOXF1):c.1138T>C (p.Ter380Arg)	FOXF1	Single nucleotide variant (stop lost)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 8462	NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter)	FOXF1 (Y75*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic

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Items: 78