C3279222[trait identifier] AND "Hadassah Hebrew University Medical Cen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599381	NM_001330701.2(AGTPBP1):c.2842C>T (p.Arg948Ter)	AGTPBP1 (R1000* +3 more)	Single nucleotide variant (nonsense)	Global developmental delay +1 more	GPathogenic
Select item 599380	NM_001330701.2(AGTPBP1):c.2195A>G (p.Tyr732Cys)	AGTPBP1 (Y784C +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GLikely pathogenic
Select item 599379	NM_001330701.2(AGTPBP1):c.2186+2T>G	AGTPBP1	Single nucleotide variant (splice donor variant)	Motor polyneuropathy +2 more	GLikely pathogenic

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ClinVar