"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC130057352 - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172449	NM_005902.4(SMAD3):c.-17_-15delinsACA	LOC130057352, SMAD3	Indel (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 139216	NM_005902.4(SMAD3):c.-15G>A	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 922300	NM_005902.4(SMAD3):c.-10C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 924233	NM_005902.4(SMAD3):c.-2C>G	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 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 920433	NM_005902.4(SMAD3):c.21del (p.Phe7fs)	LOC130057352, SMAD3 (F7fs)	Deletion (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)	SMAD3-related disorder +2 more	GBenign/Likely benign
Select item 629399	NM_005902.4(SMAD3):c.36G>A (p.Val12=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign