"Ambry Genetics"[submitter] AND "LOC130003020"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 520031	NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu)	LOC130003020, NOTCH1 (R20L)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +2 more	GUncertain significance
Select item 1734081	NM_017617.5(NOTCH1):c.36G>A (p.Ala12=)	LOC130003020, NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1314883	NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val)	LOC130003020, NOTCH1 (A12V)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +3 more	GUncertain significance
Select item 520090	NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser)	LOC130003020, NOTCH1 (P7S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 520089	NM_017617.5(NOTCH1):c.18G>A (p.Ala6=)	LOC130003020, NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 241120	NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val)	LOC130003020, NOTCH1 (A6V)	Indel (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 2452177	NM_017617.5(NOTCH1):c.16G>T (p.Ala6Ser)	LOC130003020, NOTCH1 (A6S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

ClinVar