"Ambry Genetics"[submitter] AND "LOC126860794"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2586751	NM_017617.5(NOTCH1):c.6175A>G (p.Asn2059Asp)	LOC126860794, NOTCH1 (N2059D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2452173	NM_017617.5(NOTCH1):c.6167T>C (p.Met2056Thr)	LOC126860794, NOTCH1 (M2056T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1751916	NM_017617.5(NOTCH1):c.6159C>A (p.Asn2053Lys)	LOC126860794, NOTCH1 (N2053K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1571500	NM_017617.5(NOTCH1):c.6156T>A (p.Ala2052=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 477958	NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +2 more	GLikely benign
Select item 544192	NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser)	LOC126860794, NOTCH1 (N2050S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1314450	NM_017617.5(NOTCH1):c.6137T>C (p.Val2046Ala)	LOC126860794, NOTCH1 (V2046A)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GUncertain significance
Select item 263917	NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)	LOC126860794, NOTCH1 (A2044T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 700513	NM_017617.5(NOTCH1):c.6129C>T (p.Ala2043=)	NOTCH1, LOC126860794	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 477957	NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)	NOTCH1, LOC126860794	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 241158	NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +4 more	GBenign/Likely benign
Select item 1037644	NM_017617.5(NOTCH1):c.6091G>A (p.Ala2031Thr)	NOTCH1, LOC126860794 (A2031T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 695882	NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=)	NOTCH1, LOC126860794	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +3 more	GLikely benign
Select item 1751482	NM_017617.5(NOTCH1):c.6087G>A (p.Lys2029=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 508258	NM_017617.5(NOTCH1):c.6082+10C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 509013	NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +3 more	GLikely benign
Select item 2157960	NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser)	LOC126860794, NOTCH1 (N2022S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1751336	NM_017617.5(NOTCH1):c.6060C>T (p.Asp2020=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GBenign/Likely benign
Select item 561318	NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 264290	NM_017617.5(NOTCH1):c.6054C>T (p.His2018=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +2 more	GBenign/Likely benign
Select item 520053	NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +2 more	GLikely benign
Select item 2566642	NM_017617.5(NOTCH1):c.6016G>A (p.Ala2006Thr)	LOC126860794, NOTCH1 (A2006T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1751051	NM_017617.5(NOTCH1):c.6008C>T (p.Ala2003Val)	LOC126860794, NOTCH1 (A2003V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 241157	NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	NOTCH1-related condition +6 more	GBenign/Likely benign
Select item 264008	NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +3 more	GBenign/Likely benign
Select item 1750748	NM_017617.5(NOTCH1):c.5964G>C (p.Leu1988=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 520784	NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter)	LOC126860794, NOTCH1 (R1984*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic

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Items: 27