C4551851[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666576	NM_133433.4(NIPBL):c.1320del (p.Asn440fs)	NIPBL (N440fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159070	NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs)	NIPBL (E1021fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 559908	NM_133433.4(NIPBL):c.3425dup (p.Gly1143fs)	NIPBL (G1143fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3075718	NM_133433.4(NIPBL):c.4269dup (p.Val1424fs)	NIPBL (V1424fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3220904	NM_133433.4(NIPBL):c.4586_4589del (p.Asn1529fs)	NIPBL (N1529fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 99940	NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter)	NIPBL (Q2443*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1 +1 more	GPathogenic

ClinVar