"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC130057019 - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36130	NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)	FBN1, LOC130057019 (N28S)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +10 more	GConflicting classifications of pathogenicity
Select item 163486	NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)	LOC130057019, FBN1 (A27T)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 922799	NM_000138.5(FBN1):c.76G>C (p.Asp26His)	FBN1, LOC130057019 (D26H)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 281713	NM_000138.5(FBN1):c.75G>A (p.Ala25=)	FBN1, LOC130057019	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 921512	NM_000138.5(FBN1):c.62C>T (p.Thr21Met)	FBN1, LOC130057019 (T21M)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 161245	NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)	FBN1, LOC130057019 (Y20C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 1171394	NM_000138.5(FBN1):c.46C>T (p.Leu16Phe)	FBN1, LOC130057019 (L16F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 885690	NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)	FBN1, LOC130057019 (F13C)	Single nucleotide variant (missense variant)	Marfan syndrome +6 more	GConflicting classifications of pathogenicity