"Ambry Genetics"[submitter] AND "LOC130002223"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379554	NM_004612.4(TGFBR1):c.-4G>A	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 626771	NM_004612.4(TGFBR1):c.-3A>G	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 193288	NM_004612.4(TGFBR1):c.-2C>T	LOC130002223, TGFBR1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 2586598	NM_004612.4(TGFBR1):c.14T>C (p.Val5Ala)	LOC130002223, TGFBR1 (V5A)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2235730	NM_004612.4(TGFBR1):c.14T>G (p.Val5Gly)	LOC130002223, TGFBR1 (V5G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2566477	NM_004612.4(TGFBR1):c.28C>T (p.Pro10Ser)	LOC130002223, TGFBR1 (P10S)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 263928	NM_004612.4(TGFBR1):c.32G>C (p.Arg11Pro)	LOC130002223, TGFBR1 (R11P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

ClinVar