"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522273	NM_001032283.3(TMPO):c.280-8G>A	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2 +1 more	GBenign/Likely benign
Select item 36877	NM_001032283.3(TMPO):c.565+1369C>G	TMPO (T317S)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GBenign
Select item 1215768	NM_001032283.3(TMPO):c.949A>T (p.Ile317Leu)	TMPO (I277L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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