C0039685[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260177	NM_012082.4(ZFPM2):c.302-13C>T	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9 +3 more	GBenign
Select item 42478	NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 137595	NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +6 more	GBenign
Select item 255555	NM_000214.3(JAG1):c.2916+27del	JAG1	Deletion (intron variant)	not specified +4 more	GBenign
Select item 143063	NM_000214.3(JAG1):c.765C>T (p.Tyr255=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 213524	NM_000214.3(JAG1):c.440-15T>C	JAG1	Single nucleotide variant (intron variant)	Deafness, congenital heart defects, and posterior embryotoxon +5 more	GBenign

ClinVar