"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC126806446 - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 921877	NM_000090.4(COL3A1):c.2338-7T>C	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2775122	NM_000090.4(COL3A1):c.2344G>A (p.Gly782Ser)	COL3A1, LOC126806446 (G782S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 920320	NM_000090.4(COL3A1):c.2353C>T (p.Pro785Ser)	COL3A1, LOC126806446 (P785S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1170977	NM_000090.4(COL3A1):c.2355C>A (p.Pro785=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 519612	NM_000090.4(COL3A1):c.2355C>T (p.Pro785=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 519600	NM_000090.4(COL3A1):c.2355C>G (p.Pro785=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 17200	NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)	COL3A1, LOC126806446	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 333059	NM_000090.4(COL3A1):c.2364A>G (p.Pro788=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1171768	NM_000090.4(COL3A1):c.2371G>T (p.Ala791Ser)	COL3A1, LOC126806446 (A791S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2775123	NM_000090.4(COL3A1):c.2372C>T (p.Ala791Val)	COL3A1, LOC126806446 (A791V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 923887	NM_000090.4(COL3A1):c.2373T>C (p.Ala791=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 2775124	NM_000090.4(COL3A1):c.2387G>T (p.Ser796Ile)	COL3A1, LOC126806446 (S796I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1171815	NM_000090.4(COL3A1):c.2391T>C (p.Pro797=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 924803	NM_000090.4(COL3A1):c.2392-8C>A	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 263931	NM_000090.4(COL3A1):c.2394T>C (p.Gly798=)	LOC126806446, COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 924591	NM_000090.4(COL3A1):c.2409T>C (p.Thr803=)	LOC126806446, COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 927876	NM_000090.4(COL3A1):c.2414C>G (p.Pro805Arg)	COL3A1, LOC126806446 (P805R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 922248	NM_000090.4(COL3A1):c.2424T>C (p.Pro808=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 922550	NM_000090.4(COL3A1):c.2433C>T (p.Phe811=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 511520	NM_000090.4(COL3A1):c.2436T>C (p.Pro812=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 925325	NM_000090.4(COL3A1):c.2440G>A (p.Ala814Thr)	COL3A1, LOC126806446 (A814T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 377718	NM_000090.4(COL3A1):c.2445T>G (p.Pro815=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GBenign/Likely benign

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Items: 22