"3billion"[submitter] AND "SPRED1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810	NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)	SPRED1 (R24*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2444191	NM_152594.3(SPRED1):c.521_522dup (p.Pro175fs)	SPRED1 (P175fs)	Duplication (frameshift variant)	Legius syndrome	GLikely pathogenic
Select item 1320070	NM_152594.3(SPRED1):c.1062del (p.Asp354fs)	SPRED1 (D354fs)	Deletion (frameshift variant)	Legius syndrome	GLikely pathogenic

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