C4014970[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 449324	NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)	NOTCH1 (P2161S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 544188	NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser)	NOTCH1 (L1424S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 864459	NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln)	NOTCH1 (R912Q)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GBenign
Select item 264541	NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)	NOTCH1 (G661S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 836011	NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser)	NOTCH1 (G231S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 520061	NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)	NOTCH1 (T211S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity

ClinVar