"Mendelics"[submitter] AND "TBX1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7564	NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)	TBX1 (G310S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1685163	NM_001379200.1(TBX1):c.1158_1159del (p.Gly387fs)	TBX1 (G387fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 803643	NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)	TBX1 (P396L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance

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