"Baylor Genetics"[submitter] AND "TAB2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030405	NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys)	TAB2 (R64K +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2 +1 more	GUncertain significance
Select item 2441831	NM_001292034.3(TAB2):c.473_474del (p.His158fs)	TAB2 (H126fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 561124	NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)	LOC126859827, TAB2 (R227* +1 more)	Single nucleotide variant (nonsense)	Encephalopathy +3 more	GPathogenic/Likely pathogenic
Select item 1032655	NM_001292034.3(TAB2):c.1154C>T (p.Pro385Leu)	LOC126859827, TAB2 (P353L +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2	GUncertain significance
Select item 561123	NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter)	LOC126859827, TAB2 (Y497* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 1030404	NM_001292034.3(TAB2):c.1764+1G>A	TAB2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 561115	NM_001292034.3(TAB2):c.2051G>A (p.Cys684Tyr)	TAB2 (C684Y +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2	GUncertain significance

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