"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075713	NM_015139.3(SLC35D1):c.919T>A (p.Tyr307Asn)	SLC35D1 (Y307N)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GLikely pathogenic
Select item 666427	Single allele	ITGB3BP, JAK1 +53 more	Deletion	Intellectual disability, severe	GPathogenic