FOXC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	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 1245191	NM_005251.3(FOXC2):c.-350G>T	FOXC2, FOXC2-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 623171	NM_005251.2(FOXC2):c.(?_1)_(1506_?)del	FOXC2, FOXC2-AS1	Deletion	Distichiasis-lymphedema syndrome	GLikely pathogenic
Select item 2207974	NM_005251.3(FOXC2):c.7G>A (p.Ala3Thr)	FOXC2, FOXC2-AS1 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2907498	NM_005251.3(FOXC2):c.19G>A (p.Val7Met)	FOXC2, FOXC2-AS1 (V7M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613985	NM_005251.3(FOXC2):c.20T>C (p.Val7Ala)	FOXC2, FOXC2-AS1 (V7A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2807758	NM_005251.3(FOXC2):c.21G>A (p.Val7=)	FOXC2, FOXC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2483073	NM_005251.3(FOXC2):c.46G>C (p.Val16Leu)	FOXC2, FOXC2-AS1 (V16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764188	NM_005251.3(FOXC2):c.69T>C (p.Asn23=)	FOXC2, FOXC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1311718	NM_005251.3(FOXC2):c.80C>T (p.Ala27Val)	FOXC2, FOXC2-AS1 (A27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646947	NM_005251.3(FOXC2):c.98G>T (p.Gly33Val)	FOXC2, FOXC2-AS1 (G33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259691	NM_005251.3(FOXC2):c.108C>T (p.Ser36=)	FOXC2, FOXC2-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 599243	NM_005251.3(FOXC2):c.122A>T (p.Tyr41Phe)	FOXC2, FOXC2-AS1 (Y41F)	Single nucleotide variant (missense variant)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 1716881	NM_005251.3(FOXC2):c.124T>G (p.Ser42Ala)	FOXC2, FOXC2-AS1 (S42A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 449991	NM_005251.3(FOXC2):c.130del (p.His44fs)	FOXC2, FOXC2-AS1 (H44fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2383620	NM_005251.3(FOXC2):c.154A>G (p.Met52Val)	FOXC2, FOXC2-AS1 (M52V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096276	NM_005251.3(FOXC2):c.161G>A (p.Arg54His)	FOXC2, FOXC2-AS1 (R54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202300	NM_005251.3(FOXC2):c.161G>T (p.Arg54Leu)	FOXC2, FOXC2-AS1 (R54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819936	NM_005251.3(FOXC2):c.169G>T (p.Ala57Ser)	FOXC2, FOXC2-AS1 (A57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968923	NM_005251.3(FOXC2):c.183C>T (p.His61=)	FOXC2, FOXC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 7254	NM_005251.3(FOXC2):c.200_201dup (p.Lys68fs)	FOXC2, FOXC2-AS1 (K68fs)	Duplication (frameshift variant)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 7253	NM_005251.3(FOXC2):c.209dup (p.Val71fs)	FOXC2, FOXC2-AS1 (V71fs)	Duplication (frameshift variant)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 2031286	NM_005251.3(FOXC2):c.227_230dup (p.Tyr77Ter)	FOXC2, FOXC2-AS1 (Y77*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2781961	NM_005251.3(FOXC2):c.243C>T (p.Ile81=)	FOXC2, FOXC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631715	NM_005251.3(FOXC2):c.251C>A (p.Ala84Asp)	FOXC2, FOXC2-AS1 (A84D)	Single nucleotide variant (missense variant)	FOXC2-related disorder	GUncertain significance
Select item 750253	NM_005251.3(FOXC2):c.267C>G (p.Pro89=)	FOXC2-AS1, FOXC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707364	NM_005251.3(FOXC2):c.270G>A (p.Glu90=)	FOXC2, FOXC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 7251	NM_005251.3(FOXC2):c.290_300del (p.Gly97fs)	FOXC2, FOXC2-AS1 (G97fs)	Deletion (non-coding transcript variant +1 more)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 7249	NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter)	FOXC2, FOXC2-AS1 (Y99*)	Single nucleotide variant (non-coding transcript variant +1 more)	Distichiasis-lymphedema syndrome	GLikely pathogenic
Select item 1322931	NM_005251.3(FOXC2):c.298C>T (p.Gln100Ter)	FOXC2, FOXC2-AS1 (Q100*)	Single nucleotide variant (non-coding transcript variant +1 more)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 817114	NM_005251.3(FOXC2):c.311_315del (p.Asp104fs)	FOXC2, FOXC2-AS1 (D104fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 3056999	NM_005251.3(FOXC2):c.312C>T (p.Asp104=)	FOXC2, FOXC2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FOXC2-related disorder	GLikely benign
Select item 2294724	NM_005251.3(FOXC2):c.319C>G (p.Pro107Ala)	FOXC2, FOXC2-AS1 (P107A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2145788	NM_005251.3(FOXC2):c.321C>G (p.Pro107=)	FOXC2, FOXC2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 916580	NM_005251.3(FOXC2):c.347G>A (p.Trp116Ter)	FOXC2, FOXC2-AS1 (W116*)	Single nucleotide variant (non-coding transcript variant +1 more)	Distichiasis-lymphedema syndrome	GLikely pathogenic
Select item 259694	NM_005251.3(FOXC2):c.351G>A (p.Gln117=)	FOXC2-AS1, FOXC2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1955939	NM_005251.3(FOXC2):c.354C>T (p.Asn118=)	FOXC2, FOXC2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2168968	NM_005251.3(FOXC2):c.358A>G (p.Ile120Val)	FOXC2, FOXC2-AS1 (I120V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 599242	NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys)	FOXC2, FOXC2-AS1 (R121C)	Single nucleotide variant (non-coding transcript variant +1 more)	Distichiasis-lymphedema syndrome +2 more	GPathogenic/Likely pathogenic
Select item 7261	NM_005251.3(FOXC2):c.362G>A (p.Arg121His)	FOXC2, FOXC2-AS1 (R121H)	Single nucleotide variant (non-coding transcript variant +1 more)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 3061401	NM_005251.3(FOXC2):c.365A>C (p.His122Pro)	FOXC2, FOXC2-AS1 (H122P)	Single nucleotide variant (non-coding transcript variant +1 more)	FOXC2-related disorder	GUncertain significance
Select item 7260	NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu)	FOXC2, FOXC2-AS1 (S125L)	Single nucleotide variant (non-coding transcript variant +1 more)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 727342	NM_005251.3(FOXC2):c.375G>C (p.Ser125=)	FOXC2, FOXC2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2803631	NM_005251.3(FOXC2):c.408C>T (p.Asp136=)	FOXC2, FOXC2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 259695	NM_005251.3(FOXC2):c.411C>T (p.Asp137=)	FOXC2, FOXC2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 728445	NM_005251.3(FOXC2):c.417G>A (p.Lys139=)	FOXC2, FOXC2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2381673	NM_005251.3(FOXC2):c.419C>T (p.Pro140Leu)	FOXC2, FOXC2-AS1 (P140L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2522374	NM_005251.3(FOXC2):c.421G>A (p.Gly141Ser)	FOXC2, FOXC2-AS1 (G141S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2501519	NM_005251.3(FOXC2):c.422G>T (p.Gly141Val)	FOXC2, FOXC2-AS1 (G141V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 707267	NM_005251.3(FOXC2):c.426G>A (p.Lys142=)	FOXC2, FOXC2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1809753	NM_005251.3(FOXC2):c.443_449dup (p.Asp151fs)	FOXC2 (D151fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 259696	NM_005251.3(FOXC2):c.435C>T (p.Tyr145=)	FOXC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2381674	NM_005251.3(FOXC2):c.440C>T (p.Thr147Ile)	FOXC2 (T147I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2873921	NM_005251.3(FOXC2):c.445G>C (p.Asp149His)	FOXC2 (D149H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2624057	NM_005251.3(FOXC2):c.447C>A (p.Asp149Glu)	FOXC2 (D149E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7256	NM_005251.3(FOXC2):c.509del (p.Lys170fs)	FOXC2 (K170fs)	Deletion (frameshift variant)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 2271686	NM_005251.3(FOXC2):c.517G>T (p.Val173Leu)	FOXC2 (V173L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580215	NM_005251.3(FOXC2):c.529_531del (p.Lys177del)	FOXC2 (K177del)	Deletion (inframe_deletion)	Distichiasis-lymphedema syndrome	GUncertain significance
Select item 2466541	NM_005251.3(FOXC2):c.535G>C (p.Glu179Gln)	FOXC2 (E179Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269474	NM_005251.3(FOXC2):c.535G>A (p.Glu179Lys)	FOXC2 (E179K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2780880	NM_005251.3(FOXC2):c.536A>G (p.Glu179Gly)	FOXC2 (E179G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711416	NM_005251.3(FOXC2):c.558del (p.Pro188fs)	FOXC2 (P188fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987887	NM_005251.3(FOXC2):c.563_573del (p.Pro188fs)	FOXC2 (P188fs)	Deletion (frameshift variant)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 2636907	NM_005251.3(FOXC2):c.563C>T (p.Pro188Leu)	FOXC2 (P188L)	Single nucleotide variant (missense variant)	FOXC2-related disorder	GUncertain significance
Select item 789387	NM_005251.3(FOXC2):c.566C>A (p.Ala189Glu)	FOXC2 (A189E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2717175	NM_005251.3(FOXC2):c.572C>T (p.Ser191Phe)	FOXC2 (S191F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2612881	NM_005251.3(FOXC2):c.578G>A (p.Gly193Asp)	FOXC2 (G193D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2081706	NM_005251.3(FOXC2):c.580G>T (p.Ala194Ser)	FOXC2 (A194S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762061	NM_005251.3(FOXC2):c.583C>G (p.Pro195Ala)	FOXC2 (P195A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7255	NM_005251.3(FOXC2):c.588dup (p.Thr197fs)	FOXC2 (T197fs)	Duplication (frameshift variant)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 1451572	NM_005251.3(FOXC2):c.595dup (p.His199fs)	FOXC2 (H199fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2721802	NM_005251.3(FOXC2):c.602C>T (p.Ala201Val)	FOXC2 (A201V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 7259	NM_005251.3(FOXC2):c.602_681delinsACAAA (p.Ala201_Thr226delinsAsp)	FOXC2	Indel (inframe_indel)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 2051078	NM_005251.3(FOXC2):c.604G>A (p.Asp202Asn)	FOXC2 (D202N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 762711	NM_005251.3(FOXC2):c.605A>C (p.Asp202Ala)	FOXC2 (D202A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3096277	NM_005251.3(FOXC2):c.608C>A (p.Ala203Asp)	FOXC2 (A203D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2114856	NM_005251.3(FOXC2):c.610C>T (p.Pro204Ser)	FOXC2 (P204S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993869	NM_005251.3(FOXC2):c.624G>A (p.Glu208=)	FOXC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2871659	NM_005251.3(FOXC2):c.627G>A (p.Lys209=)	FOXC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 707237	NM_005251.3(FOXC2):c.648G>A (p.Glu216=)	FOXC2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2792839	NM_005251.3(FOXC2):c.668C>T (p.Pro223Leu)	FOXC2 (P223L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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