"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 1712745	NM_006767.4(LZTR1):c.443A>G (p.Asn148Ser)	LZTR1 (N148S)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +2 more	GUncertain significance
Select item 209088	NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	LZTR1 (G248R)	Single nucleotide variant (missense variant)	Fetal cystic hygroma +6 more	GConflicting classifications of pathogenicity
Select item 2445211	Single allele	ZDHHC8, C22orf39 +45 more	Deletion	See cases	GPathogenic

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