"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2642502	NM_019055.6(ROBO4):c.3001+3G>A	ROBO4	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign
Select item 2691020	NM_019055.6(ROBO4):c.2748C>T (p.Ser916=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691019	NM_019055.6(ROBO4):c.2689G>A (p.Asp897Asn)	ROBO4 (D752N +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 790460	NM_019055.6(ROBO4):c.2326C>T (p.Arg776Cys)	ROBO4 (R631C +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 2691018	NM_019055.6(ROBO4):c.2279C>T (p.Pro760Leu)	ROBO4 (P615L +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 791180	NM_019055.6(ROBO4):c.2006G>A (p.Arg669Gln)	ROBO4 (R524Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1284937	NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp)	ROBO4 (G517D +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 713013	NM_019055.6(ROBO4):c.1817G>A (p.Arg606His)	ROBO4 (R606H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2642504	NM_019055.6(ROBO4):c.1775G>A (p.Ser592Asn)	ROBO4 (S447N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 791181	NM_019055.6(ROBO4):c.1687C>T (p.Leu563Phe)	ROBO4 (L563F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2221665	NM_019055.6(ROBO4):c.1676G>C (p.Arg559Pro)	ROBO4 (R559P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2691250	NM_019055.6(ROBO4):c.1650G>A (p.Ala550=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691249	NM_019055.6(ROBO4):c.1640G>A (p.Arg547Gln)	ROBO4 (R402Q +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691248	NM_019055.6(ROBO4):c.1639C>T (p.Arg547Trp)	ROBO4 (R402W +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691247	NM_019055.6(ROBO4):c.1603T>C (p.Ser535Pro)	ROBO4 (S390P +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691246	NM_019055.6(ROBO4):c.1570T>C (p.Trp524Arg)	ROBO4 (W379R +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691245	NM_019055.6(ROBO4):c.1468C>G (p.His490Asp)	ROBO4 (H345D +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 732298	NM_019055.6(ROBO4):c.1458C>T (p.Ala486=)	ROBO4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2691244	NM_019055.6(ROBO4):c.1400G>A (p.Arg467Gln)	ROBO4 (R322Q +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 768494	NM_019055.6(ROBO4):c.1239A>G (p.Pro413=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign
Select item 2691243	NM_019055.6(ROBO4):c.1150G>A (p.Val384Ile)	ROBO4 (V239I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 791182	NM_019055.6(ROBO4):c.1138C>T (p.Arg380Cys)	ROBO4 (R380C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 791183	NM_019055.6(ROBO4):c.957C>T (p.Tyr319=)	ROBO4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2691026	NM_019055.6(ROBO4):c.878A>C (p.Gln293Pro)	ROBO4 (Q148P +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691025	NM_019055.6(ROBO4):c.831C>A (p.Ala277=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2368875	NM_019055.6(ROBO4):c.656G>A (p.Arg219His)	ROBO4 (R74H +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2691023	NM_019055.6(ROBO4):c.645T>C (p.His215=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691022	NM_019055.6(ROBO4):c.570G>A (p.Gly190=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 1285164	NM_019055.6(ROBO4):c.546C>T (p.Pro182=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 2691021	NM_019055.6(ROBO4):c.430C>T (p.Arg144Trp)	ROBO4 (R144W)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 1277602	NM_019055.6(ROBO4):c.161A>G (p.Gln54Arg)	ROBO4 (Q54R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2691242	NM_019055.6(ROBO4):c.103C>T (p.Leu35=)	ROBO4	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691241	NM_019055.6(ROBO4):c.102C>A (p.Ile34=)	ROBO4	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691024	NM_019055.6(ROBO4):c.6C>A (p.Gly2=)	ROBO4	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GBenign

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Items: 34