C3714756[trait identifier] AND "Pediatric Genetics Clinic, Sheba Medic - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235469	NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)	MYT1L (R567Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 190286	NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	MEA1, PPP2R5D (E198K +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +6 more	GPathogenic
Select item 659092	NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys)	YWHAG (R57C)	Single nucleotide variant (missense variant)	Intellectual disability +9 more	GPathogenic
Select item 205963	NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	KCNQ3 (R230C +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +9 more	GPathogenic/Likely pathogenic
Select item 39581	NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	PACS1 (R203W)	Single nucleotide variant (missense variant)	Aortic root aneurysm +12 more	GPathogenic/Likely pathogenic
Select item 30150	NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	SMAD4 (I500V)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +9 more	GPathogenic

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