C0917715[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518450	NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)	NOTCH2 (R2400*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 499864	NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His)	NOTCH2 (R2256H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 597278	NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His)	NOTCH2 (R1726H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 1028812	NM_024408.4(NOTCH2):c.5123_5132delinsAGA (p.Ser1708_Leu1711delinsTer)	NOTCH2	Indel (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 1028811	NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His)	NOTCH2 (Q1677H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1028810	NM_024408.4(NOTCH2):c.3208T>C (p.Ser1070Pro)	NOTCH2 (S1070P)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 1034043	NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala)	NOTCH2 (G240A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1028814	NM_024408.4(NOTCH2):c.686C>A (p.Pro229His)	NOTCH2 (P229H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance

ClinVar