"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 457152	NC_000015.10:g.(?_48410970)_(48644789_?)del	FBN1, LOC113939944 +5 more	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 457156	NC_000015.10:g.(?_48508562)_(48644789_?)del	FBN1, LOC113939944 +3 more	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 583422	NC_000015.10:g.(?_48596263)_(48644789_?)del	FBN1, LOC130057019	Deletion	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 639879	NC_000015.10:g.(?_48596273)_(48644779_?)del	FBN1, LOC130057019	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 584085	NC_000015.10:g.(?_48612990)_(48644789_?)del	FBN1, LOC130057019	Deletion	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 36130	NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)	FBN1, LOC130057019 (N28S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GConflicting classifications of pathogenicity
Select item 163486	NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)	FBN1, LOC130057019 (A27T)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenignFDA Recognized database
Select item 922799	NM_000138.5(FBN1):c.76G>C (p.Asp26His)	FBN1, LOC130057019 (D26H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 281713	NM_000138.5(FBN1):c.75G>A (p.Ala25=)	FBN1, LOC130057019	Single nucleotide variant (synonymous variant)	Marfan syndrome +3 more	GBenign/Likely benign
Select item 2949259	NM_000138.5(FBN1):c.73G>T (p.Ala25Ser)	FBN1, LOC130057019 (A25S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 1056518	NM_000138.5(FBN1):c.71G>C (p.Gly24Ala)	FBN1, LOC130057019 (G24A)	Single nucleotide variant (missense variant)	Marfan syndrome +1 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
Select item 2936689	NM_000138.5(FBN1):c.63G>C (p.Thr21=)	FBN1, LOC130057019	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1151790	NM_000138.5(FBN1):c.63G>A (p.Thr21=)	FBN1, LOC130057019	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 921512	NM_000138.5(FBN1):c.62C>T (p.Thr21Met)	FBN1, LOC130057019 (T21M)	Single nucleotide variant (missense variant)	not specified +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 significanceFDA Recognized database
Select item 1628043	NM_000138.5(FBN1):c.57C>G (p.Ser19=)	FBN1, LOC130057019	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 1677198	NM_000138.5(FBN1):c.51_52del (p.Leu17fs)	FBN1, LOC130057019 (L17fs)	Deletion (frameshift variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 860251	NM_000138.5(FBN1):c.52G>C (p.Ala18Pro)	FBN1, LOC130057019 (A18P)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 200011	NM_000138.5(FBN1):c.50T>C (p.Leu17Ser)	FBN1, LOC130057019 (L17S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 953324	NM_000138.5(FBN1):c.43G>A (p.Val15Met)	FBN1, LOC130057019 (V15M)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 2113331	NM_000138.5(FBN1):c.40dup (p.Thr14fs)	FBN1, LOC130057019 (T14fs)	Duplication (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 885690	NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)	FBN1, LOC130057019 (F13C)	Single nucleotide variant (missense variant)	Acromicric dysplasia +6 more	GConflicting classifications of pathogenicity

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Items: 23