"Laboratory of Diagnostic Genome Analysis, Leiden University Medical C - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137355	NM_001999.4(FBN2):c.8364+7A>T	FBN2	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 258529	NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)	FBN2 (P2784L)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 213256	NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys)	FBN2 (E2753K)	Single nucleotide variant (missense variant)	FBN2-related condition +5 more	GLikely benign
Select item 213252	NM_001999.4(FBN2):c.7593A>G (p.Lys2531=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 129050	NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)	FBN2 (Q2432H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
Select item 210999	NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)	FBN2 (I2394T)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 213249	NM_001999.4(FBN2):c.7012+7G>A	FBN2	Single nucleotide variant (intron variant)	FBN2-related condition +4 more	GBenign/Likely benign
Select item 289728	NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)	FBN2 (A2328S)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 129047	NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign
Select item 213246	NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)	FBN2 (I2219V)	Single nucleotide variant (missense variant)	FBN2-related condition +4 more	GBenign/Likely benign
Select item 213245	NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
Select item 137344	NM_001999.4(FBN2):c.6511+5G>A	FBN2	Single nucleotide variant (intron variant)	Macular degeneration, early-onset +6 more	GConflicting classifications of pathogenicity
Select item 137342	NM_001999.4(FBN2):c.5674+7A>G	FBN2	Single nucleotide variant (intron variant)	FBN2-related condition +4 more	GBenign/Likely benign
Select item 1206243	NM_001999.4(FBN2):c.5500G>A (p.Glu1834Lys)	FBN2 (E1834K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137341	NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 137330	NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)	FBN2 (E1438K)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 210996	NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)	FBN2 (H1381N)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 129041	NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign
Select item 213230	NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)	FBN2 (Q1256R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 137325	NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 458755	NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg)	FBN2 (G1094R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137324	NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)	FBN2, LOC126807501 (A1056S)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 129040	NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign
Select item 1175168	NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu)	FBN2 (P830L)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 213286	NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)	FBN2 (G754S)	Single nucleotide variant (missense variant)	FBN2-related condition +7 more	GBenign/Likely benign
Select item 1205896	NM_001999.4(FBN2):c.1826C>G (p.Thr609Ser)	FBN2 (T609S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 263817	NM_001999.4(FBN2):c.1466-4G>A	FBN2	Single nucleotide variant (intron variant)	FBN2-related condition +3 more	GLikely benign
Select item 129035	NM_001999.4(FBN2):c.1466-5C>T	FBN2	Single nucleotide variant (intron variant)	Connective tissue disorder +6 more	GBenign
Select item 210993	NM_001999.4(FBN2):c.1040G>A (p.Arg347His)	FBN2 (R347H)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 137316	NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)	FBN2 (P326S)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 137315	NM_001999.4(FBN2):c.953-8T>G	FBN2	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 213259	NM_001999.4(FBN2):c.829G>A (p.Val277Ile)	FBN2 (V277I)	Single nucleotide variant (missense variant)	FBN2-related condition +5 more	GBenign/Likely benign
Select item 137359	NM_001999.4(FBN2):c.738G>A (p.Ala246=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 137358	NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)	FBN2 (I243T)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 155796	NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)	FBN2 (T173I)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity
Select item 94020	NM_001999.4(FBN2):c.203C>T (p.Ala68Val)	FBN2 (A68V)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 193220	NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)	FBN2 (P37Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

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Items: 37