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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 202139	NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser)	TMPO (N117S)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 239535	NM_001032283.3(TMPO):c.565+1232C>T	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2 +2 more	GLikely benign
Select item 44673	NM_001032283.3(TMPO):c.565+1240G>A	TMPO (R274K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 264391	NM_001032283.3(TMPO):c.565+1493A>G	TMPO	Single nucleotide variant (synonymous variant +1 more)	TMPO-related disorder +3 more	GBenign/Likely benign
Select item 1509365	NM_001032283.3(TMPO):c.565+1584G>A	TMPO (G389R)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 192133	NM_001032283.3(TMPO):c.565+1696C>T	TMPO (P426L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1T +7 more	GConflicting classifications of pathogenicity
Select item 178143	NM_001032283.3(TMPO):c.565+1728G>C	TMPO (V437L)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +3 more	GBenign/Likely benign
Select item 229322	NM_001032283.3(TMPO):c.565+2149C>T	TMPO (A577V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 178144	NM_001032283.3(TMPO):c.565+2224A>G	TMPO (Q602R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 2635365	NM_001032283.3(TMPO):c.565+2300T>A	TMPO (Y627*)	Single nucleotide variant (nonsense +1 more)	TMPO-related disorder	GUncertain significance
Select item 12707	NM_001032283.3(TMPO):c.565+2487C>T	TMPO (R690C)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1T +6 more	GConflicting classifications of pathogenicity
Select item 43693	NM_001032283.3(TMPO):c.859G>C (p.Ala287Pro)	TMPO (A287P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 165477	NM_001032283.3(TMPO):c.1119G>A (p.Arg373=)	TMPO	Single nucleotide variant (synonymous variant)	TMPO-related disorder +2 more	GLikely benign
Select item 1196339	NM_001032283.3(TMPO):c.1296A>G (p.Gln432=)	TMPO	Single nucleotide variant (synonymous variant)	TMPO-related disorder +1 more	GLikely benign
Select item 3036479	NM_001032283.3(TMPO):c.1297G>A (p.Ala433Thr)	TMPO (A324T +2 more)	Single nucleotide variant (missense variant)	TMPO-related disorder	GUncertain significance
Select item 165478	NM_001032283.3(TMPO):c.*1A>G	TMPO	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign