ClinVar for MedGen (Select 462389) - ClinVar

	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 417871	NM_001032283.3(TMPO):c.565+1717G>C	TMPO (S433T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 225494	NM_001032283.3(TMPO):c.565+1957del	TMPO (L513fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1T	GUncertain significance
Select item 192133	NM_001032283.3(TMPO):c.565+1696C>T	TMPO (P426L)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +7 more	GConflicting classifications of pathogenicity
Select item 44662	NM_001032283.3(TMPO):c.565+1665A>G	TMPO (K416E)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 12707	NM_001032283.3(TMPO):c.565+2487C>T	TMPO (R690C)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 25 +6 more	GConflicting classifications of pathogenicity

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