"Hadassah Hebrew University Medical Center"[submitter] AND "WBP4"[gene - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500814	NM_007187.5(WBP4):c.440-1G>A	WBP4	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2500810	NM_007187.5(WBP4):c.499del (p.Thr167fs)	WBP4 (T167fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2500811	NC_000013.11:g.41074134_41090164del	WBP4	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 2500812	NM_007187.5(WBP4):c.668C>G (p.Ser223Ter)	WBP4 (S223*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2500813	NM_007187.5(WBP4):c.944del (p.Pro315fs)	WBP4 (P315fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic

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