"Department of Human Genetics, Nagasaki University"[submitter] AND "NO - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 850097	NM_017617.5(NOTCH1):c.4513T>C (p.Cys1505Arg)	NOTCH1 (C1505R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GUncertain significance; other
Select item 2413168	NM_017617.5(NOTCH1):c.3304G>T (p.Glu1102Ter)	NOTCH1 (E1102*)	Single nucleotide variant (nonsense)	Cholesteatoma of middle ear	Gother
Select item 2413167	NM_017617.5(NOTCH1):c.2969+1G>T	NOTCH1	Single nucleotide variant (splice donor variant)	Cholesteatoma of middle ear	Gother
Select item 2413169	NM_017617.5(NOTCH1):c.1412T>C (p.Ile471Thr)	NOTCH1 (I471T)	Single nucleotide variant (missense variant)	Cholesteatoma of middle ear	Gother
Select item 637001	NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)	NOTCH1 (P407L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity; other
Select item 1039617	NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr)	NOTCH1 (A145T)	Single nucleotide variant (missense variant)	Cholesteatoma of middle ear +4 more	GConflicting classifications of pathogenicity; other

ClinVar