"OMIM"[submitter] AND "NOTCH2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30061	NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter)	NOTCH2 (Q2389*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 30058	NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter)	NOTCH2 (Y2373*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 30059	NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter)	NOTCH2 (Q2317*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 30060	NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter)	NOTCH2 (E2299*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 30057	NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter)	NOTCH2 (Q2208*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 30055	NM_024408.4(NOTCH2):c.6272del (p.Phe2091fs)	NOTCH2 (F2091fs)	Deletion (frameshift variant)	Hajdu-Cheney syndrome	GPathogenic
Select item 9229	NM_024408.4(NOTCH2):c.5930-1G>A	NOTCH2	Single nucleotide variant (splice acceptor variant)	Alagille syndrome due to a NOTCH2 point mutation	GPathogenic
Select item 9230	NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr)	NOTCH2 (C444Y)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GPathogenic
Select item 30056	NOTCH2, 1-BP DEL, 6460T	NOTCH2	Deletion	Hajdu-Cheney syndrome	GPathogenic

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