C1858556[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 264033	NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)	FBN1 (R2730Q)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 626101	NM_000138.5(FBN1):c.6957T>C (p.Asn2319=)	FBN1	Single nucleotide variant (synonymous variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 42413	NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)	FBN1	Single nucleotide variant (synonymous variant)	Ectopia lentis 1, isolated, autosomal dominant +12 more	GBenign
Select item 457253	NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)	FBN1 (R2282Q)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 2500232	NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)	FBN1 (C2190Y)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +7 more	GLikely pathogenic
Select item 1332267	NM_000138.5(FBN1):c.6403G>C (p.Asp2135His)	FBN1 (D2135H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 200191	NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	FBN1 (E2130K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +11 more	GPathogenic/Likely pathogenic
Select item 828000	NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)	FBN1 (E2082Q)	Single nucleotide variant (missense variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome +7 more	GUncertain significance
Select item 626100	NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter)	FBN1 (C2061*)	Single nucleotide variant (nonsense)	Stiff skin syndrome +7 more	GLikely pathogenic
Select item 1675082	NM_000138.5(FBN1):c.6164-5T>C	FBN1	Single nucleotide variant (intron variant)	MASS syndrome +8 more	GConflicting classifications of pathogenicity
Select item 2500029	NM_000138.5(FBN1):c.6037+9G>A	FBN1	Single nucleotide variant (intron variant)	Geleophysic dysplasia 2 +7 more	GUncertain significance
Select item 1675081	NM_000138.5(FBN1):c.5836del (p.Gln1946fs)	FBN1 (Q1946fs)	Deletion (frameshift variant)	Stiff skin syndrome +7 more	GPathogenic
Select item 626102	NM_000138.5(FBN1):c.5546-1G>A	FBN1	Single nucleotide variant (splice acceptor variant)	Weill-Marchesani syndrome 2, dominant +8 more	GPathogenic/Likely pathogenic
Select item 626103	NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu)	FBN1 (V1488L)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 2, dominant +8 more	GUncertain significance
Select item 36075	NM_000138.5(FBN1):c.4460-8G>A	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GPathogenic/Likely pathogenic
Select item 42355	NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	FBN1, LOC126862124 (P1424A)	Single nucleotide variant (missense variant)	Marfan syndrome +12 more	GConflicting classifications of pathogenicity
Select item 1675080	NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro)	FBN1 (L1193P)	Single nucleotide variant (missense variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 16451	NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	FBN1 (R1170H)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 255292	NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)	FBN1 (A1152T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GConflicting classifications of pathogenicity
Select item 495590	NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)	FBN1 (C1138S)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GPathogenic/Likely pathogenic
Select item 1527855	NM_000138.5(FBN1):c.3337+1dup	FBN1	Duplication (splice donor variant)	Ectopia lentis 1, isolated, autosomal dominant +7 more	GLikely pathogenic
Select item 36061	NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)	FBN1 (P1009R)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 36060	NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	FBN1 (A986T)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 1707834	NM_000138.5(FBN1):c.2753del (p.Pro918fs)	FBN1 (P918fs)	Deletion (frameshift variant)	Geleophysic dysplasia 2 +8 more	GPathogenic
Select item 265401	NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)	FBN1 (R861*)	Single nucleotide variant (nonsense)	not specified +12 more	GPathogenic/Likely pathogenic
Select item 569969	NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn)	FBN1 (D807N)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 625943	NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs)	FBN1 (C769fs)	Deletion (frameshift variant)	Stiff skin syndrome +7 more	GPathogenic
Select item 495574	NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)	FBN1 (Y746C)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +10 more	GPathogenic/Likely pathogenic
Select item 1675078	NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg)	FBN1 (C734R)	Single nucleotide variant (missense variant)	Stiff skin syndrome +7 more	GLikely pathogenic
Select item 2500028	NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)	FBN1 (T655I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +7 more	GUncertain significance
Select item 163480	NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)	FBN1 (R627C)	Single nucleotide variant (missense variant)	Marfan syndrome +10 more	GPathogenic
Select item 199960	NM_000138.5(FBN1):c.902G>T (p.Gly301Val)	FBN1 (G301V)	Single nucleotide variant (missense variant)	Stiff skin syndrome +12 more	GConflicting classifications of pathogenicity
Select item 16461	NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	FBN1 (R240C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GPathogenic/Likely pathogenic
Select item 42340	NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)	FBN1 (C123Y)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +8 more	GPathogenic
Select item 828001	NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)	FBN1 (I107fs)	Duplication (frameshift variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome +7 more	GPathogenic
Select item 2500030	NM_000138.5(FBN1):c.164+3A>G	FBN1	Single nucleotide variant (intron variant)	Geleophysic dysplasia 2 +7 more	GUncertain significance
Select item 1675079	NM_000138.5(FBN1):c.69T>C (p.His23=)	FBN1, LOC130057019	Single nucleotide variant (synonymous variant)	Ectopia lentis 1, isolated, autosomal dominant +8 more	GConflicting classifications of pathogenicity

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Items: 38