"GeneDx"[submitter] AND "LOC130057352"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139214	NM_005902.4(SMAD3):c.-28C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome +2 more	GBenign
Select item 139215	NM_005902.4(SMAD3):c.-23C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome +3 more	GBenign
Select item 506315	NM_005902.4(SMAD3):c.-18C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 139216	NM_005902.4(SMAD3):c.-15G>A	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign
Select item 451689	NM_005902.4(SMAD3):c.5C>A (p.Ser2Ter)	LOC130057352, SMAD3 (S2*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 213778	NM_005902.4(SMAD3):c.17C>T (p.Pro6Leu)	LOC130057352, SMAD3 (P6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar