"Ambry Genetics"[submitter] AND "LOC126862124"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 519751	NM_000138.5(FBN1):c.4336+4A>C	FBN1, LOC126862124	Single nucleotide variant (intron variant)	Marfan syndrome +2 more	GUncertain significance
Select item 3230417	NM_000138.5(FBN1):c.4331G>T (p.Cys1444Phe)	LOC126862124, FBN1 (C1444F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 263831	NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr)	FBN1, LOC126862124 (C1444Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 495607	NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)	FBN1, LOC126862124 (G1441R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GConflicting classifications of pathogenicity
Select item 264533	NM_000138.5(FBN1):c.4316C>T (p.Ala1439Val)	FBN1, LOC126862124 (A1439V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 155792	NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)	FBN1, LOC126862124 (S1438N)	Single nucleotide variant (missense variant)	Ectopia lentis +8 more	GConflicting classifications of pathogenicity
Select item 42356	NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)	LOC126862124, FBN1 (V1436M)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +12 more	GConflicting classifications of pathogenicity
Select item 1086005	NM_000138.5(FBN1):c.4305C>T (p.Phe1435=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 457208	NM_000138.5(FBN1):c.4293C>T (p.Cys1431=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 457201	NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter)	FBN1, LOC126862124 (C1431*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 3277948	NM_000138.5(FBN1):c.4284_4288dup (p.Glu1430fs)	FBN1, LOC126862124 (E1430fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2567905	NM_000138.5(FBN1):c.4281C>T (p.Tyr1427=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 449440	NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys)	FBN1, LOC126862124 (Y1427C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 42355	NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	LOC126862124, FBN1 (P1424A)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +12 more	GConflicting classifications of pathogenicity
Select item 519707	NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)	LOC126862124, FBN1 (C1415R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 578961	NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer)	FBN1, LOC126862124	Microsatellite (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 42351	NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)	FBN1, LOC126862124 (C1408R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 200041	NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)	FBN1, LOC126862124 (L1405R)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 390493	NM_000138.5(FBN1):c.4211-1G>A	FBN1, LOC126862124	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic