C1857761[trait identifier] AND "Johns Hopkins Genomics, Johns Hopkins - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1310937	NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln)	NOTCH2 (R1875Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GConflicting classifications of pathogenicity
Select item 970952	NM_024408.4(NOTCH2):c.3406C>G (p.Gln1136Glu)	NOTCH2 (Q1136E)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GConflicting classifications of pathogenicity