"Ambry Genetics"[submitter] AND "LOC126807501"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 985433	NM_001999.4(FBN2):c.3181C>T (p.Arg1061Ter)	FBN2, LOC126807501 (R1061*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 137324	NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)	FBN2, LOC126807501 (A1056S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 1728321	NM_001999.4(FBN2):c.3162C>A (p.Arg1054=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 284989	NM_001999.4(FBN2):c.3162C>T (p.Arg1054=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 752797	NM_001999.4(FBN2):c.3147G>A (p.Glu1049=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 263905	NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +4 more	GBenign/Likely benign
Select item 519852	NM_001999.4(FBN2):c.3114G>C (p.Glu1038Asp)	FBN2, LOC126807501 (E1038D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 3277981	NM_001999.4(FBN2):c.3105C>T (p.Thr1035=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3221955	NM_001999.4(FBN2):c.3096T>C (p.Ala1032=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 905604	NM_001999.4(FBN2):c.3093G>A (p.Ala1031=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 998417	NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val)	FBN2, LOC126807501 (A1031V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1727463	NM_001999.4(FBN2):c.3090G>A (p.Gly1030=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 700223	NM_001999.4(FBN2):c.3087C>T (p.Val1029=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GLikely benign
Select item 213297	NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)	FBN2, LOC126807501 (R1021C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 947336	NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu)	FBN2, LOC126807501 (F1020L)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GUncertain significance
Select item 213296	NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn)	FBN2, LOC126807501 (K1019N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3221954	NM_001999.4(FBN2):c.3051T>G (p.Pro1017=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277979	NM_001999.4(FBN2):c.3045C>A (p.Pro1015=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 137323	NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1158040	NM_001999.4(FBN2):c.3041A>C (p.His1014Pro)	FBN2, LOC126807501 (H1014P)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 519857	NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met)	FBN2, LOC126807501 (I1013M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 129040	NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +5 more	GBenign
Select item 213226	NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 961796	NM_001999.4(FBN2):c.2997C>T (p.Arg999=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 519806	NM_001999.4(FBN2):c.2996G>A (p.Arg999His)	LOC126807501, FBN2 (R999H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 25