ClinVar for MedGen (Select 75566) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584485	NM_005251.3(FOXC2):c.908_923dup (p.Pro309fs)	FOXC2 (P309fs)	Duplication (frameshift variant)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 2580215	NM_005251.3(FOXC2):c.529_531del (p.Lys177del)	FOXC2 (K177del)	Deletion (inframe_deletion)	Distichiasis-lymphedema syndrome	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 1687211	NM_005251.3(FOXC2):c.1221del (p.Gln407fs)	FOXC2 (Q407fs)	Deletion (frameshift variant)	Distichiasis-lymphedema syndrome	GLikely pathogenic
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 1057379	NM_005251.3(FOXC2):c.1169_1189del (p.Gln390_His396del)	FOXC2	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1032303	NM_005251.3(FOXC2):c.973del (p.Ala325fs)	FOXC2 (A325fs)	Deletion (frameshift variant)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 1030897	NM_005251.3(FOXC2):c.782C>A (p.Ala261Asp)	FOXC2 (A261D)	Single nucleotide variant (missense variant)	Distichiasis-lymphedema syndrome	GUncertain significance
Select item 1030896	NM_005251.3(FOXC2):c.760G>C (p.Gly254Arg)	FOXC2 (G254R)	Single nucleotide variant (missense variant)	Distichiasis-lymphedema syndrome	GUncertain significance
Select item 995573	NM_005251.3(FOXC2):c.710dup (p.Gln238fs)	FOXC2 (Q238fs)	Duplication (frameshift variant)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 987887	NM_005251.3(FOXC2):c.563_573del (p.Pro188fs)	FOXC2 (P188fs)	Deletion (frameshift variant)	Distichiasis-lymphedema syndrome	GPathogenic
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 766984	NM_005251.3(FOXC2):c.1364A>G (p.Asn455Ser)	FOXC2 (N455S)	Single nucleotide variant (missense variant)	Distichiasis-lymphedema syndrome +1 more	GLikely benign
Select item 762711	NM_005251.3(FOXC2):c.605A>C (p.Asp202Ala)	FOXC2 (D202A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 692067	NM_005251.3(FOXC2):c.939C>G (p.Tyr313Ter)	FOXC2 (Y313*)	Single nucleotide variant (nonsense)	Distichiasis-lymphedema syndrome	GLikely pathogenic
Select item 623171	NM_005251.2(FOXC2):c.(?_1)_(1506_?)del	FOXC2, FOXC2-AS1	Deletion	Distichiasis-lymphedema syndrome	GLikely pathogenic
Select item 599245	NM_005251.3(FOXC2):c.1258C>T (p.Gln420Ter)	FOXC2 (Q420*)	Single nucleotide variant (nonsense)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 599244	NM_005251.3(FOXC2):c.1205C>T (p.Pro402Leu)	FOXC2 (P402L)	Single nucleotide variant (missense variant)	Distichiasis-lymphedema syndrome	GPathogenic
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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 547948	NM_005251.3(FOXC2):c.1331A>G (p.Gln444Arg)	FOXC2 (Q444R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 7259	NM_005251.3(FOXC2):c.602_681delinsACAAA (p.Ala201_Thr226delinsAsp)	FOXC2	Indel (inframe_indel)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 7257	NM_005251.3(FOXC2):c.914_921del (p.Tyr305fs)	FOXC2 (Y305fs)	Deletion (frameshift variant)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 7256	NM_005251.3(FOXC2):c.509del (p.Lys170fs)	FOXC2 (K170fs)	Deletion (frameshift variant)	Distichiasis-lymphedema syndrome	GPathogenic
Select item 7255	NM_005251.3(FOXC2):c.588dup (p.Thr197fs)	FOXC2 (T197fs)	Duplication (frameshift variant)	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 7252	NM_005251.3(FOXC2):c.1331del (p.Gln444fs)	FOXC2 (Q444fs)	Deletion (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 7250	NM_005251.3(FOXC2):c.1090_1093dup (p.Pro365fs)	FOXC2 (P365fs)	Duplication (frameshift variant)	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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Items: 34