"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126862124"[gen - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 925008	NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val)	LOC126862124, FBN1 (A1443V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 457209	NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)	FBN1, LOC126862124 (A1439G)	Single nucleotide variant (missense variant)	Marfan syndrome +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 922236	NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn)	FBN1, LOC126862124 (D1432N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 626881	NM_000138.5(FBN1):c.4283G>A (p.Arg1428His)	FBN1, LOC126862124 (R1428H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 660076	NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys)	FBN1, LOC126862124 (R1428C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
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