"PreventionGenetics, part of Exact Sciences"[submitter] AND "TAB2"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631202	NM_001292034.3(TAB2):c.80_84delinsAGG (p.Val27fs)	TAB2 (V27fs)	Indel (frameshift variant +1 more)	TAB2-related disorder	GLikely pathogenic
Select item 1174368	NM_001292034.3(TAB2):c.282A>G (p.Gly94=)	TAB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2636950	NM_001292034.3(TAB2):c.508C>A (p.Gln170Lys)	TAB2 (Q138K +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 1300827	NM_001292034.3(TAB2):c.597T>G (p.Gly199=)	TAB2	Single nucleotide variant (synonymous variant)	TAB2-related disorder +1 more	GLikely benign
Select item 3030535	NM_001292034.3(TAB2):c.629G>A (p.Gly210Glu)	TAB2 (G178E +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 561124	NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)	LOC126859827, TAB2 (R227* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2 +3 more	GPathogenic/Likely pathogenic
Select item 3058316	NM_001292034.3(TAB2):c.919T>A (p.Ser307Thr)	LOC126859827, TAB2 (S275T +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 1655167	NM_001292034.3(TAB2):c.1077C>T (p.Thr359=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	TAB2-related disorder +1 more	GBenign/Likely benign
Select item 2630221	NM_001292034.3(TAB2):c.1115G>C (p.Ser372Thr)	LOC126859827, TAB2 (S340T +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 2628577	NM_001292034.3(TAB2):c.1487A>G (p.His496Arg)	LOC126859827, TAB2 (H464R +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 3030594	NM_001292034.3(TAB2):c.1764+8_1764+9insAT	TAB2	Insertion (intron variant)	TAB2-related disorder	GLikely benign
Select item 2632639	NM_001292034.3(TAB2):c.2050T>A (p.Cys684Ser)	TAB2 (C652S +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance