"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626104	NM_001999.4(FBN2):c.8547A>G (p.Gln2849=)	FBN2	Single nucleotide variant (synonymous variant)	Macular degeneration, early-onset +1 more	GUncertain significance
Select item 155797	NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)	FBN2 (F2603S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +3 more	GConflicting classifications of pathogenicity
Select item 458777	NM_001999.4(FBN2):c.7012+6C>T	FBN2	Single nucleotide variant (intron variant)	Macular degeneration, early-onset +3 more	GConflicting classifications of pathogenicity
Select item 137344	NM_001999.4(FBN2):c.6511+5G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +6 more	GConflicting classifications of pathogenicity
Select item 811308	NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)	FBN2 (V1952A)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 487469	NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)	FBN2 (R1832C)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 263332	NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val)	FBN2 (G1520V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GUncertain significance
Select item 449577	NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)	FBN2 (R1195H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 487464	NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys)	FBN2 (G1172C)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely pathogenic
Select item 626105	NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys)	FBN2 (N1165K)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset +1 more	GUncertain significance
Select item 458759	NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)	FBN2 (E1161K)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 1675083	NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly)	FBN2 (C1142G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GPathogenic/Likely pathogenic
Select item 213228	NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)	FBN2 (V1132I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +4 more	GConflicting classifications of pathogenicity
Select item 213392	NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)	FBN2 (E846K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2501747	NM_001999.4(FBN2):c.1800delinsTT (p.Ile601fs)	FBN2 (I601fs)	Indel (frameshift variant)	Macular degeneration, early-onset +1 more	GUncertain significance
Select item 828002	NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe)	FBN2 (C600F)	Indel (missense variant)	Macular degeneration, early-onset +1 more	GUncertain significance
Select item 1675084	NM_001999.4(FBN2):c.255-3C>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +2 more	GUncertain significance