"3billion"[submitter] AND "LOC126859827"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1454884	NM_001292034.3(TAB2):c.1354C>T (p.Arg452Ter)	LOC126859827, TAB2 (R420* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2 +2 more	GPathogenic
Select item 2444290	NM_001292034.3(TAB2):c.1501G>T (p.Glu501Ter)	LOC126859827, TAB2 (E469* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GLikely pathogenic