2200[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 316296	NM_000138.5(FBN1):c.*2674T>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia +6 more	GBenign/Likely benign
Select item 316297	NM_000138.5(FBN1):c.*2638T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +6 more	GUncertain significance
Select item 316298	NM_000138.5(FBN1):c.*2594G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 887646	NM_000138.5(FBN1):c.*2592T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 316299	NM_000138.5(FBN1):c.*2578C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 316300	NM_000138.5(FBN1):c.*2556G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +6 more	GUncertain significance
Select item 316301	NM_000138.5(FBN1):c.*2533C>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +7 more	GUncertain significance
Select item 316302	NM_000138.5(FBN1):c.*2524A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 316303	NM_000138.5(FBN1):c.*2443G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Acromicric dysplasia +7 more	GUncertain significance
Select item 316304	NM_000138.5(FBN1):c.*2421C>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Acromicric dysplasia +7 more	GUncertain significance
Select item 316305	NM_000138.5(FBN1):c.*2398G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 316306	NM_000138.5(FBN1):c.*2395G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 316307	NM_000138.5(FBN1):c.*2360C>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +7 more	GLikely benign
Select item 316308	NM_000138.5(FBN1):c.*2260C>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 316309	NM_000138.5(FBN1):c.*2221A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +6 more	GUncertain significance
Select item 316310	NM_000138.5(FBN1):c.*2158G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign
Select item 316311	NM_000138.5(FBN1):c.*2153A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +7 more	GBenign/Likely benign
Select item 316312	NM_000138.5(FBN1):c.*2114T>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +6 more	GUncertain significance
Select item 316313	NM_000138.5(FBN1):c.*2091G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GConflicting classifications of pathogenicity
Select item 316314	NM_000138.5(FBN1):c.*2078G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GUncertain significance
Select item 884619	NM_000138.5(FBN1):c.*2045G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Acromicric dysplasia +6 more	GConflicting classifications of pathogenicity
Select item 884620	NM_000138.5(FBN1):c.*2044C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Acromicric dysplasia +5 more	GUncertain significance
Select item 316315	NM_000138.5(FBN1):c.*2040T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign
Select item 886579	NM_000138.5(FBN1):c.*2037T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 316316	NM_000138.5(FBN1):c.*2024A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GConflicting classifications of pathogenicity
Select item 316317	NM_000138.5(FBN1):c.*1989C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +7 more	GBenign/Likely benign
Select item 884680	NM_000138.5(FBN1):c.*1981C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Acromicric dysplasia +5 more	GUncertain significance
Select item 316318	NM_000138.5(FBN1):c.*1959G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign
Select item 316319	NM_000138.5(FBN1):c.*1950dup	FBN1	Duplication (3 prime UTR variant)	Weill-Marchesani syndrome +7 more	GLikely benign
Select item 316320	NM_000138.5(FBN1):c.*1949T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 316321	NM_000138.5(FBN1):c.*1943G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 316322	NM_000138.5(FBN1):c.*1733A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 316323	NM_000138.5(FBN1):c.*1720C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Acromicric dysplasia +6 more	GConflicting classifications of pathogenicity
Select item 316324	NM_000138.5(FBN1):c.*1706C>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GUncertain significance
Select item 316325	NM_000138.5(FBN1):c.*1672G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GUncertain significance
Select item 316326	NM_000138.5(FBN1):c.*1635C>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Acromicric dysplasia +7 more	GUncertain significance
Select item 316327	NM_000138.5(FBN1):c.*1619T>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Marfan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 316328	NM_000138.5(FBN1):c.*1580G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 316329	NM_000138.5(FBN1):c.*1575T>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign
Select item 316330	NM_000138.5(FBN1):c.*1562G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Acromicric dysplasia +7 more	GBenign
Select item 316331	NM_000138.5(FBN1):c.*1484C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Marfan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 316332	NM_000138.5(FBN1):c.*1477C>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GUncertain significance
Select item 316333	NM_000138.5(FBN1):c.*1437G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +7 more	GLikely benign
Select item 885745	NM_000138.5(FBN1):c.*1432A>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Acromicric dysplasia +5 more	GUncertain significance
Select item 316334	NM_000138.5(FBN1):c.*1398G>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +6 more	GUncertain significance
Select item 316335	NM_000138.5(FBN1):c.*1396C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Marfan syndrome +7 more	GUncertain significance
Select item 888017	NM_000138.5(FBN1):c.*1375A>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 316336	NM_000138.5(FBN1):c.*1368A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 884892	NM_000138.5(FBN1):c.*1341C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 316337	NM_000138.5(FBN1):c.*1325T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Marfan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 316338	NM_000138.5(FBN1):c.*1298C>G	FBN1	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 316339	NM_000138.5(FBN1):c.*1252A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 884967	NM_000138.5(FBN1):c.*1249A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 316340	NM_000138.5(FBN1):c.*1245C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 316341	NM_000138.5(FBN1):c.*1228T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 1327719	NM_000138.5(FBN1):c.1201_1209dup	FBN1	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 886871	NM_000138.5(FBN1):c.*1201T>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 888152	NM_000138.5(FBN1):c.*1122C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 316342	NM_000138.5(FBN1):c.*1084T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +6 more	GBenign
Select item 316343	NM_000138.5(FBN1):c.*1007G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 316344	NM_000138.5(FBN1):c.*987C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GUncertain significance
Select item 885033	NM_000138.5(FBN1):c.*968G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 316345	NM_000138.5(FBN1):c.*967C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Acromicric dysplasia +6 more	GConflicting classifications of pathogenicity
Select item 316346	NM_000138.5(FBN1):c.*960del	FBN1	Deletion (3 prime UTR variant)	not provided +8 more	GBenign/Likely benign
Select item 316347	NM_000138.5(FBN1):c.*948G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +6 more	GUncertain significance
Select item 316348	NM_000138.5(FBN1):c.*938G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GUncertain significance
Select item 316349	NM_000138.5(FBN1):c.*867G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +7 more	GBenign/Likely benign
Select item 885095	NM_000138.5(FBN1):c.*845C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 885096	NM_000138.5(FBN1):c.*779C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +6 more	GConflicting classifications of pathogenicity
Select item 316350	NM_000138.5(FBN1):c.*764G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +6 more	GConflicting classifications of pathogenicity
Select item 316351	NM_000138.5(FBN1):c.*730G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +7 more	GBenign
Select item 316352	NM_000138.5(FBN1):c.*724A>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +6 more	GUncertain significance
Select item 316353	NM_000138.5(FBN1):c.*406G>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +7 more	GUncertain significance
Select item 886074	NM_000138.5(FBN1):c.*399C>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 886075	NM_000138.5(FBN1):c.*325T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 316354	NM_000138.5(FBN1):c.*314C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Acromicric dysplasia +7 more	GBenign
Select item 885245	NM_000138.5(FBN1):c.*311G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 885246	NM_000138.5(FBN1):c.*300T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 316355	NM_000138.5(FBN1):c.*286C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 316356	NM_000138.5(FBN1):c.*268G>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia +6 more	GUncertain significance
Select item 316357	NM_000138.5(FBN1):c.*254C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Ectopia lentis 1, isolated, autosomal dominant +10 more	GUncertain significance
Select item 888414	NM_000138.5(FBN1):c.*253A>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 885308	NM_000138.5(FBN1):c.*252G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 885309	NM_000138.5(FBN1):c.*235T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 1210563	NM_000138.5(FBN1):c.*223T>G	FBN1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 316358	NM_000138.5(FBN1):c.202_203del	FBN1	Deletion (3 prime UTR variant)	Weill-Marchesani syndrome +7 more	GUncertain significance
Select item 886213	NM_000138.5(FBN1):c.*107A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 316359	NM_000138.5(FBN1):c.*57A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign
Select item 888468	NM_000138.5(FBN1):c.*43A>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +6 more	GConflicting classifications of pathogenicity
Select item 584144	NC_000015.9:g.(?_48703167)_(48726930_?)dup	FBN1	Duplication	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 584073	NC_000015.10:g.(?_48410970)_(48412763_?)del	FBN1	Deletion	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 457152	NC_000015.10:g.(?_48410970)_(48644789_?)del	FBN1, LOC113939944 +5 more	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 457151	NC_000015.10:g.(?_48410970)_(48537828_?)del	FBN1, LOC113939944 +3 more	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 457150	NC_000015.10:g.(?_48410970)_(48497411_?)del	FBN1, LOC126862124	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3373724	NM_000138.5(FBN1):c.*4A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 3075999	NC_000015.10:g.(?_48410990)_(48644769_?)del	LOC126862124, FBN1 +5 more	Deletion	Marfan syndrome	GPathogenic
Select item 560348	NC_000015.9:g.48703187_48748959del45773	FBN1	Deletion	Marfan syndrome	GPathogenic
Select item 457272	NM_000138.5(FBN1):c.8616A>G (p.Ter2872=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 927302	NM_000138.5(FBN1):c.8608C>T (p.Leu2870Phe)	FBN1 (L2870F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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