"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3072697	NM_005902.4(SMAD3):c.-5del	LOC130057352, SMAD3	Deletion (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3075115	NM_005902.4(SMAD3):c.-5C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3070801	NM_005902.4(SMAD3):c.-5C>A	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3075380	NM_005902.4(SMAD3):c.2T>C (p.Met1Thr)	LOC130057352, SMAD3 (M1T)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 1174530	NM_005902.4(SMAD3):c.3G>A (p.Met1Ile)	LOC130057352, SMAD3 (M1I)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 263814	NM_005902.4(SMAD3):c.9C>T (p.Ser3=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 3070747	NM_005902.4(SMAD3):c.13C>T (p.Leu5=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3074714	NM_005902.4(SMAD3):c.24T>G (p.Thr8=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 2906967	NM_005902.4(SMAD3):c.25C>T (p.Pro9Ser)	LOC130057352, SMAD3 (P9S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 543914	NM_005902.4(SMAD3):c.27C>T (p.Pro9=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 1727630	NM_005902.4(SMAD3):c.30G>T (p.Pro10=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2919472	NM_005902.4(SMAD3):c.33C>T (p.Ile11=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign