"Genome-Nilou Lab"[submitter] AND "NOTCH2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1293670	NM_024408.4(NOTCH2):c.2753-44C>T	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome +2 more	GBenign
Select item 1283582	NM_024408.4(NOTCH2):c.1108+30A>G	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome +2 more	GBenign
Select item 1174922	NM_024408.4(NOTCH2):c.15C>T (p.Arg5=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GBenign

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