C2674574[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155839	NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)	TGFBR2 (C461Y +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GLikely pathogenic
Select item 2444333	NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)	TGFBR2 (W231* +10 more)	Single nucleotide variant (nonsense)	Loeys-Dietz syndrome 2	GLikely pathogenic