"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 681713	NM_001999.4(FBN2):c.8520C>T (p.Asn2840=)	FBN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 137354	NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 129053	NM_001999.4(FBN2):c.8274C>T (p.Ser2758=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 137353	NM_001999.4(FBN2):c.8049G>A (p.Gly2683=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 129051	NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu)	FBN2 (S2580L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 137350	NM_001999.4(FBN2):c.7650C>G (p.Thr2550=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 213251	NM_001999.4(FBN2):c.7471+6G>A	FBN2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 137349	NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 129049	NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)	FBN2	Single nucleotide variant (synonymous variant)	Macular degeneration, early-onset +4 more	GBenign
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 528435	NM_001999.4(FBN2):c.6948C>T (p.Ile2316=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
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 137347	NM_001999.4(FBN2):c.6880+17G>A	FBN2	Single nucleotide variant (intron variant)	Macular degeneration, early-onset +3 more	GBenign
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 137343	NM_001999.4(FBN2):c.6292+12C>A	FBN2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 528445	NM_001999.4(FBN2):c.6057G>A (p.Glu2019=)	FBN2	Single nucleotide variant (synonymous variant)	FBN2-related condition +2 more	GLikely benign
Select item 129043	NM_001999.4(FBN2):c.5675-9C>T	FBN2	Single nucleotide variant (intron variant)	Macular degeneration, early-onset +4 more	GBenign
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 137340	NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
Select item 137339	NM_001999.4(FBN2):c.5353+19C>T	FBN2	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 137336	NM_001999.4(FBN2):c.4983C>T (p.Cys1661=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 137333	NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)	FBN2	Single nucleotide variant (synonymous variant)	Macular degeneration, early-onset +7 more	GBenign/Likely benign
Select item 994352	NM_001999.4(FBN2):c.4472-12del	FBN2	Deletion (intron variant)	Congenital contractural arachnodactyly +2 more	GBenign/Likely benign
Select item 264532	NM_001999.4(FBN2):c.4311C>T (p.Ser1437=)	FBN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely 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 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 1154953	NM_001999.4(FBN2):c.3609A>G (p.Glu1203=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely 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 137322	NM_001999.4(FBN2):c.2940C>T (p.Cys980=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
Select item 129039	NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)	FBN2 (V965I)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GBenign
Select item 137321	NM_001999.4(FBN2):c.2555-7A>G	FBN2	Single nucleotide variant (intron variant)	Macular degeneration, early-onset +5 more	GBenign/Likely benign
Select item 137319	NM_001999.4(FBN2):c.2427T>A (p.Ile809=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
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 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 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 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 129036	NM_001999.4(FBN2):c.183C>G (p.Pro61=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 129034	NM_001999.4(FBN2):c.111G>A (p.Pro37=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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: 48