Related gene-specific medical variations for Gene (Select 2303) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279515	NM_005251.3(FOXC2):c.79G>C (p.Ala27Pro)	FOXC2, FOXC2-AS1 (A27P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279514	NM_005251.3(FOXC2):c.41G>A (p.Gly14Glu)	FOXC2, FOXC2-AS1 (G14E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279513	NM_005251.3(FOXC2):c.63G>C (p.Glu21Asp)	FOXC2, FOXC2-AS1 (E21D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3236814	NM_005251.3(FOXC2):c.390C>A (p.Phe130Leu)	FOXC2, FOXC2-AS1 (F130L)	Single nucleotide variant (non-coding transcript variant +1 more)	Distichiasis-lymphedema syndrome	GUncertain significance
Select item 3235898	NM_005251.3(FOXC2):c.1105dup (p.Leu369fs)	FOXC2 (L369fs)	Duplication (frameshift variant)	Distichiasis-lymphedema syndrome	GLikely pathogenic
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 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 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 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 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 2807758	NM_005251.3(FOXC2):c.21G>A (p.Val7=)	FOXC2, FOXC2-AS1	Single nucleotide variant (synonymous variant)	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 2781961	NM_005251.3(FOXC2):c.243C>T (p.Ile81=)	FOXC2, FOXC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2580215	NM_005251.3(FOXC2):c.529_531del (p.Lys177del)	FOXC2 (K177del)	Deletion (inframe_deletion)	Distichiasis-lymphedema syndrome	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 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 2441539	NM_005251.3(FOXC2):c.1265C>T (p.Ala422Val)	FOXC2 (A422V)	Single nucleotide variant (missense variant)	Distichiasis-lymphedema syndrome	GUncertain significance
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 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 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 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 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 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 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 2031286	NM_005251.3(FOXC2):c.227_230dup (p.Tyr77Ter)	FOXC2, FOXC2-AS1 (Y77*)	Duplication (nonsense)	not provided	GPathogenic
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 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 1809753	NM_005251.3(FOXC2):c.443_449dup (p.Asp151fs)	FOXC2 (D151fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
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 1330828	NM_005251.3(FOXC2):c.889GTG[3] (p.Val298dup)	FOXC2	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
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 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 1245191	NM_005251.3(FOXC2):c.-350G>T	FOXC2, FOXC2-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 993869	NM_005251.3(FOXC2):c.624G>A (p.Glu208=)	FOXC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 871976	NM_005251.3(FOXC2):c.912dup (p.Tyr305fs)	FOXC2 (Y305fs)	Duplication (frameshift variant)	not provided	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 764188	NM_005251.3(FOXC2):c.69T>C (p.Asn23=)	FOXC2, FOXC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 707364	NM_005251.3(FOXC2):c.270G>A (p.Glu90=)	FOXC2, FOXC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 633674	NM_005251.3(FOXC2):c.1460T>C (p.Leu487Pro)	FOXC2 (L487P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 599242	NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys)	FOXC2, FOXC2-AS1 (R121C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 591026	NM_005251.3(FOXC2):c.1218CCAGCC[3] (p.407QP[3])	FOXC2	Microsatellite (inframe_insertion)	not provided	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 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 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 259693	NM_005251.3(FOXC2):c.1482C>T (p.Tyr494=)	FOXC2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 259691	NM_005251.3(FOXC2):c.108C>T (p.Ser36=)	FOXC2-AS1, FOXC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 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 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

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Links from Gene

Items: 62