ClinVar for Gene (Select 7112) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327292	NM_001032283.3(TMPO):c.565+2067C>T	TMPO	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3327291	NM_001032283.3(TMPO):c.565+1663C>A	TMPO (S415Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327290	NM_001032283.3(TMPO):c.565+2033T>C	TMPO	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3327289	NM_001032283.3(TMPO):c.565+2363A>G	TMPO	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3327287	NM_001032283.3(TMPO):c.565+2284A>G	TMPO (Y622C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327286	NM_001032283.3(TMPO):c.282A>C (p.Lys94Asn)	TMPO (K94N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327285	NM_001032283.3(TMPO):c.565+1259C>G	TMPO (C280W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327284	NM_001032283.3(TMPO):c.565+1020A>G	TMPO (R201G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327283	NM_001032283.3(TMPO):c.565+2354T>C	TMPO	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3327282	NM_001032283.3(TMPO):c.537T>A (p.Asp179Glu)	TMPO (D179E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327281	NM_001032283.3(TMPO):c.565+2205G>C	TMPO (D596H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327279	NM_001032283.3(TMPO):c.565+1376T>G	TMPO	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3327278	NM_001032283.3(TMPO):c.438T>G (p.Leu146=)	TMPO	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3327277	NM_001032283.3(TMPO):c.565+2070G>C	TMPO (G551R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327275	NM_001032283.3(TMPO):c.565+1701A>G	TMPO (K428E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3253562	NM_001032283.3(TMPO):c.565+1494G>A	TMPO (A359T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3244324	NC_000012.11:g.(?_98909646)_(98928120_?)dup	TMPO	Duplication	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3223190	NM_001032283.3(TMPO):c.565+1408G>T	TMPO (C330F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223189	NM_001032283.3(TMPO):c.565+1406T>G	TMPO (I329M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223188	NM_001032283.3(TMPO):c.565+1330T>G	TMPO (L304W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223187	NM_001032283.3(TMPO):c.565+1326A>G	TMPO (M303V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223186	NM_001032283.3(TMPO):c.565+1252T>C	TMPO (I278T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223185	NM_001032283.3(TMPO):c.565+1197A>G	TMPO (N260D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223184	NM_001032283.3(TMPO):c.565+1188G>T	TMPO (V257F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223183	NM_001032283.3(TMPO):c.565+1163G>C	TMPO (K248N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223182	NM_001032283.3(TMPO):c.72T>G (p.Asn24Lys)	TMPO, TMPO-AS1 (N24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223181	NM_001032283.3(TMPO):c.565+1054C>G	TMPO (T212S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223179	NM_001032283.3(TMPO):c.565+1000A>C	TMPO (H194P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223178	NM_001032283.3(TMPO):c.54T>G (p.Ser18Arg)	TMPO, TMPO-AS1 (S18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223177	NM_001032283.3(TMPO):c.540T>C (p.Ser180=)	TMPO	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223176	NM_001032283.3(TMPO):c.367C>G (p.Gln123Glu)	TMPO (Q123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223175	NM_001032283.3(TMPO):c.328C>A (p.Leu110Ile)	TMPO (L110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223174	NM_001032283.3(TMPO):c.322G>T (p.Asp108Tyr)	TMPO (D108Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223173	NM_001032283.3(TMPO):c.262C>A (p.Arg88=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3223172	NM_001032283.3(TMPO):c.565+2344C>T	TMPO (T642I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223171	NM_001032283.3(TMPO):c.565+2230T>G	TMPO (L604R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223170	NM_001032283.3(TMPO):c.565+2216A>C	TMPO (Q599H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223169	NM_001032283.3(TMPO):c.565+2136T>C	TMPO (Y573H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223168	NM_001032283.3(TMPO):c.565+2066A>G	TMPO	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3223167	NM_001032283.3(TMPO):c.565+1663C>T	TMPO (S415F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223166	NM_001032283.3(TMPO):c.565+1661G>A	TMPO	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3223165	NM_001032283.3(TMPO):c.565+1651G>T	TMPO (R411I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223164	NM_001032283.3(TMPO):c.565+1602G>A	TMPO (G395R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223163	NM_001032283.3(TMPO):c.565+1521C>G	TMPO (L368V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3179820	NM_001032283.3(TMPO):c.565+1165G>T	TMPO (G249V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179819	NM_001032283.3(TMPO):c.286A>G (p.Thr96Ala)	TMPO (T96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179818	NM_001032283.3(TMPO):c.565+1647A>G	TMPO (K410E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3069008	NM_001032283.3(TMPO):c.565+2392G>A	TMPO (C658Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3014458	NM_001032283.3(TMPO):c.565+19T>C	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3013196	NM_001032283.3(TMPO):c.565+1817T>C	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3012214	NM_001032283.3(TMPO):c.273C>A (p.Val91=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 3004111	NM_001032283.3(TMPO):c.565+2412A>T	TMPO (K665*)	Single nucleotide variant (nonsense +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2999707	NM_001032283.3(TMPO):c.565+2292G>A	TMPO (A625T)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2995143	NM_001032283.3(TMPO):c.565+9T>G	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2993032	NM_001032283.3(TMPO):c.565+2128G>A	TMPO (C570Y)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2974353	NM_001032283.3(TMPO):c.565+1613C>T	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2968150	NM_001032283.3(TMPO):c.565+2175_565+2176del	TMPO (T586fs)	Microsatellite (frameshift variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2959767	NM_001032283.3(TMPO):c.506C>G (p.Ala169Gly)	TMPO (A169G)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2958264	NM_001032283.3(TMPO):c.280-13A>G	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2920469	NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile)	LOC130008520, TMPO +1 more (T74I)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2914241	NM_001032283.3(TMPO):c.565+2261G>C	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2911360	NM_001032283.3(TMPO):c.186C>T (p.Pro62=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2907196	NM_001032283.3(TMPO):c.565+2170C>G	TMPO (T584S)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2906961	NM_001032283.3(TMPO):c.279+17G>A	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2905295	NM_001032283.3(TMPO):c.565+2101G>T	TMPO (C561F)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2904446	NM_001032283.3(TMPO):c.280-13A>T	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2904278	NM_001032283.3(TMPO):c.565+1587G>A	TMPO (V390I)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2896477	NM_001032283.3(TMPO):c.565+1372C>T	TMPO (T318I)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2882838	NM_001032283.3(TMPO):c.565+2104A>G	TMPO (N562S)	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2871712	NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys)	TMPO, TMPO-AS1 (N58K)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2868039	NM_001032283.3(TMPO):c.565+1062_565+1063delinsTT	TMPO (G215F)	Indel (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2868038	NM_001032283.3(TMPO):c.565+1018C>G	TMPO (T200S)	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2866845	NM_001032283.3(TMPO):c.565+2397A>T	TMPO (I660F)	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2864179	NM_001032283.3(TMPO):c.308G>C (p.Arg103Thr)	TMPO (R103T)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2856608	NM_001032283.3(TMPO):c.565+1220G>A	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 2853228	NM_001032283.3(TMPO):c.565+1128G>T	TMPO (E237*)	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2846474	NM_001032283.3(TMPO):c.565+2229C>G	TMPO (L604V)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2839348	NM_001032283.3(TMPO):c.565+1964A>C	TMPO	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2837281	NM_001032283.3(TMPO):c.565+1120G>C	TMPO (G234A)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2832026	NM_001032283.3(TMPO):c.251C>T (p.Ala84Val)	LOC130008520, TMPO +1 more (A84V)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2825430	NM_001032283.3(TMPO):c.503CAG[1] (p.Ala169del)	TMPO (A169del)	Microsatellite (inframe_deletion)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2822398	NM_001032283.3(TMPO):c.565+1312C>G	TMPO (P298R)	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2820208	NM_001032283.3(TMPO):c.150G>A (p.Arg50=)	TMPO, TMPO-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2819843	NM_001032283.3(TMPO):c.565+1807C>G	TMPO (T463S)	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2799653	NM_001032283.3(TMPO):c.519G>A (p.Arg173=)	TMPO	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2793887	NM_001032283.3(TMPO):c.565+1532G>T	TMPO	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2788895	NM_001032283.3(TMPO):c.565+2044G>T	TMPO (G542V)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 2784559	NM_001032283.3(TMPO):c.383G>A (p.Gly128Glu)	TMPO (G128E)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2767578	NM_001032283.3(TMPO):c.170C>G (p.Thr57Ser)	TMPO, TMPO-AS1 (T57S)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2762954	NM_001032283.3(TMPO):c.565+2173A>T	TMPO (H585L)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2748838	NM_001032283.3(TMPO):c.284C>T (p.Ala95Val)	TMPO (A95V)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2744084	NM_001032283.3(TMPO):c.565+1378G>A	TMPO (G320D)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2740241	NM_001032283.3(TMPO):c.565+1995G>A	TMPO (E526K)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2736796	NM_001032283.3(TMPO):c.565+2219T>G	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2735924	NM_001032283.3(TMPO):c.565+2022A>G	TMPO (K535E)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2731396	NM_001032283.3(TMPO):c.565+1279G>A	TMPO (C287Y)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2730922	NM_001032283.3(TMPO):c.231C>T (p.Leu77=)	LOC130008520, TMPO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 2728288	NM_001032283.3(TMPO):c.565+2481A>G	TMPO (K688E)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2725372	NM_001032283.3(TMPO):c.565+1069G>A	TMPO (G217E)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance

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