A Attanasio - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163461	NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)	FBN1 (R2694*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 200123	NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)	FBN1 (Y2639C)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +3 more	GPathogenic/Likely pathogenic
Select item 263398	NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)	FBN1 (E2570K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 549406	NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)	FBN1 (C2470R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 519742	NM_000138.5(FBN1):c.7330+1G>A	FBN1	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 200171	NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	FBN1	Deletion (frameshift variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +4 more	GPathogenic
Select item 2453684	NM_000138.5(FBN1):c.6806T>G (p.Ile2269Ser)	FBN1 (I2269S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 36107	NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)	FBN1 (I2269T)	Single nucleotide variant (missense variant)	Marfan syndrome +10 more	GPathogenic/Likely pathogenic
Select item 406315	NM_000138.5(FBN1):c.6695G>A (p.Cys2232Tyr)	FBN1 (C2232Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 439708	NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg)	FBN1 (C2221R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 42407	NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)	FBN1 (R2220*)	Single nucleotide variant (nonsense)	not specified +5 more	GPathogenic/Likely pathogenic
Select item 419595	NM_000138.5(FBN1):c.6616+1G>A	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 200191	NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	FBN1 (E2130K)	Single nucleotide variant (missense variant)	Marfan syndrome +11 more	GPathogenic/Likely pathogenic
Select item 42400	NM_000138.5(FBN1):c.6379+1G>A	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 16449	NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GPathogenic
Select item 36095	NM_000138.5(FBN1):c.5788+5G>T	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 200066	NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr)	FBN1 (C1900Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 381610	NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys)	FBN1 (E1894K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 1330727	NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly)	FBN1 (E1811G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 200063	NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)	FBN1 (E1811K)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +3 more	GPathogenic/Likely pathogenic
Select item 549257	NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser)	FBN1 (C1672S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 200187	NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr)	FBN1 (C1672Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1744779	NM_000138.5(FBN1):c.5014T>C (p.Cys1672Arg)	FBN1 (C1672R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 42366	NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)	FBN1 (R1539*)	Single nucleotide variant (nonsense)	Marfan syndrome +2 more	GPathogenic
Select item 1736484	NM_000138.5(FBN1):c.3958T>A (p.Cys1320Ser)	FBN1 (C1320S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 803091	NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr)	FBN1 (C1182Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 179632	NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)	FBN1 (R1125*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 519740	NM_000138.5(FBN1):c.3125G>A (p.Gly1042Asp)	FBN1 (G1042D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 519571	NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)	FBN1 (G1042S)	Single nucleotide variant (missense variant)	Stiff skin syndrome +8 more	GPathogenic/Likely pathogenic
Select item 42325	NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)	FBN1 (T1020A)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely benign FDA Recognized database
Select item 915814	NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)	FBN1 (C887Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 263855	NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp)	FBN1 (G880D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 42306	NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp)	FBN1 (C816W)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 520493	NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)	FBN1 (Y635C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 418630	NM_000138.5(FBN1):c.1880G>A (p.Arg627His)	FBN1 (R627H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GConflicting classifications of pathogenicity
Select item 163480	NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)	FBN1 (R627C)	Single nucleotide variant (missense variant)	Acromicric dysplasia +10 more	GPathogenic
Select item 618646	NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe)	FBN1 (C623F)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +2 more	GPathogenic/Likely pathogenic
Select item 2498613	NM_000138.5(FBN1):c.1746C>G (p.Cys582Trp)	FBN1 (C582W)	Single nucleotide variant (missense variant)	FBN1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 549038	NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr)	FBN1 (C576Y)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +2 more	GPathogenic
Select item 199977	NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly)	FBN1 (C576G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 549017	NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)	FBN1 (C488Y)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +2 more	GPathogenic/Likely pathogenic
Select item 180351	NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)	FBN1 (R429*)	Single nucleotide variant (nonsense)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +10 more	GPathogenic/Likely pathogenic
Select item 265446	NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)	FBN1, LOC113939944 (Q348*)	Single nucleotide variant (nonsense)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +3 more	GPathogenic/Likely pathogenic
Select item 199956	NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)	FBN1 (G214S)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +3 more	GPathogenic/Likely pathogenic
Select item 42380	NM_000138.5(FBN1):c.529T>C (p.Cys177Arg)	FBN1 (C177R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 520235	NM_000138.5(FBN1):c.408C>G (p.Cys136Trp)	FBN1 (C136W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 42340	NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)	FBN1 (C123Y)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GPathogenic
Select item 242364	NM_032575.3(GLIS2):c.775+1G>T	GLIS2	Single nucleotide variant (splice donor variant)	GLIS2-related disorder +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 48