"Ambry Genetics"[submitter] AND "LOC130057352"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 283793	NM_005902.4(SMAD3):c.-1C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 520186	NM_005902.4(SMAD3):c.1A>C (p.Met1Leu)	LOC130057352, SMAD3 (M1L)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic/Likely 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 2452416	NM_005902.4(SMAD3):c.5C>G (p.Ser2Trp)	LOC130057352, SMAD3 (S2W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 770040	NM_005902.4(SMAD3):c.6G>A (p.Ser2=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 3225165	NM_005902.4(SMAD3):c.11T>C (p.Ile4Thr)	LOC130057352, SMAD3 (I4T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 701973	NM_005902.4(SMAD3):c.12C>T (p.Ile4=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1798636	NM_005902.4(SMAD3):c.29dup (p.Ile11fs)	LOC130057352, SMAD3 (I11fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
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