"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376346	NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)	NOTCH1 (R2327W)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 930237	NM_017617.5(NOTCH1):c.5430G>C (p.Gln1810His)	NOTCH1 (Q1810H)	Single nucleotide variant (missense variant)	Aortic valve disease 1	GUncertain significance
Select item 520027	NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met)	NOTCH1 (V1739M)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 931048	NM_017617.5(NOTCH1):c.559G>A (p.Gly187Arg)	NOTCH1 (G187R)	Single nucleotide variant (missense variant)	Aortic valve disease 1	GUncertain significance
Select item 449741	NM_017617.5(NOTCH1):c.335G>A (p.Arg112His)	NOTCH1 (R112H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic

ClinVar