"Ambry Genetics"[submitter] AND "TMPO-AS1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1784211	NM_001032283.3(TMPO):c.-1G>C	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 695615	NM_001032283.3(TMPO):c.13C>T (p.Leu5=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 263441	NM_001032283.3(TMPO):c.24C>T (p.Pro8=)	TMPO-AS1, TMPO	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2562958	NM_001032283.3(TMPO):c.26C>T (p.Ser9Leu)	TMPO, TMPO-AS1 (S9L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1734055	NM_001032283.3(TMPO):c.36A>G (p.Thr12=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1742549	NM_001032283.3(TMPO):c.46T>C (p.Leu16=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1593547	NM_001032283.3(TMPO):c.51G>A (p.Lys17=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 180005	NM_001032283.3(TMPO):c.70A>C (p.Asn24His)	TMPO, TMPO-AS1 (N24H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2620712	NM_001032283.3(TMPO):c.77C>G (p.Thr26Arg)	TMPO, TMPO-AS1 (T26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558333	NM_001032283.3(TMPO):c.85G>T (p.Ala29Ser)	TMPO, TMPO-AS1 (A29S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 44674	NM_001032283.3(TMPO):c.87C>T (p.Ala29=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 519145	NM_001032283.3(TMPO):c.88G>C (p.Gly30Arg)	TMPO, TMPO-AS1 (G30R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1766833	NM_001032283.3(TMPO):c.93G>A (p.Glu31=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1788966	NM_001032283.3(TMPO):c.108G>C (p.Val36=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 508173	NM_001032283.3(TMPO):c.108G>T (p.Val36=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2 +2 more	GBenign/Likely benign
Select item 1560633	NM_001032283.3(TMPO):c.111C>T (p.Tyr37=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1739063	NM_001032283.3(TMPO):c.116A>G (p.Gln39Arg)	TMPO, TMPO-AS1 (Q39R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1749796	NM_001032283.3(TMPO):c.120C>T (p.Leu40=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1765032	NM_001032283.3(TMPO):c.126G>A (p.Leu42=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 659030	NM_001032283.3(TMPO):c.128A>G (p.Gln43Arg)	TMPO, TMPO-AS1 (Q43R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1770099	NM_001032283.3(TMPO):c.132C>T (p.His44=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1774591	NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)	TMPO, TMPO-AS1 (P51L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 511913	NM_001032283.3(TMPO):c.153G>A (p.Pro51=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GLikely benign
Select item 518840	NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser)	TMPO-AS1, TMPO (P52S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 842091	NM_001032283.3(TMPO):c.164C>T (p.Ala55Val)	TMPO, TMPO-AS1 (A55V)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1779769	NM_001032283.3(TMPO):c.176G>T (p.Ser59Ile)	TMPO, TMPO-AS1 (S59I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1782250	NM_001032283.3(TMPO):c.189G>T (p.Pro63=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1782244	NM_001032283.3(TMPO):c.189G>A (p.Pro63=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1782836	NM_001032283.3(TMPO):c.192C>T (p.Asp64=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2625259	NM_001032283.3(TMPO):c.198C>T (p.Ser66=)	TMPO-AS1, TMPO	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 469132	NM_001032283.3(TMPO):c.213C>G (p.Arg71=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1135879	NM_001032283.3(TMPO):c.219C>G (p.Pro73=)	TMPO-AS1, LOC130008520 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 179033	NM_001032283.3(TMPO):c.225G>A (p.Pro75=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 1511149	NM_001032283.3(TMPO):c.234C>G (p.Gly78=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 416241	NM_001032283.3(TMPO):c.234C>T (p.Gly78=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 1790266	NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe)	TMPO, TMPO-AS1 +1 more (S79F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1791001	NM_001032283.3(TMPO):c.241G>C (p.Ala81Pro)	LOC130008520, TMPO +1 more (A81P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1791293	NM_001032283.3(TMPO):c.243C>T (p.Ala81=)	LOC130008520, TMPO +1 more	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1791744	NM_001032283.3(TMPO):c.246C>G (p.Ala82=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 180547	NM_001032283.3(TMPO):c.248C>T (p.Ala83Val)	TMPO, TMPO-AS1 +1 more (A83V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1792172	NM_001032283.3(TMPO):c.249C>G (p.Ala83=)	LOC130008520, TMPO +1 more	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1792667	NM_001032283.3(TMPO):c.252G>A (p.Ala84=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 179138	NM_001032283.3(TMPO):c.252G>T (p.Ala84=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 1792932	NM_001032283.3(TMPO):c.254G>C (p.Gly85Ala)	LOC130008520, TMPO +1 more (G85A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1793354	NM_001032283.3(TMPO):c.257G>A (p.Arg86Gln)	LOC130008520, TMPO +1 more (R86Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 263367	NM_001032283.3(TMPO):c.264A>C (p.Arg88=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1592495	NM_001032283.3(TMPO):c.267A>T (p.Ala89=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1795537	NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser)	LOC130008520, TMPO +1 more (G92S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 48