ClinVar for MedGen (Select 382398) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (intron variant +1 more)	Loeys-Dietz syndrome 2	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	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	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
Select item 2725353	NM_001032283.3(TMPO):c.565+1302T>C	TMPO (S295P)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2722843	NM_001032283.3(TMPO):c.565+1108G>A	TMPO (R230H)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2709666	NM_001032283.3(TMPO):c.485T>A (p.Leu162Gln)	TMPO (L162Q)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2709232	NM_001032283.3(TMPO):c.565+1708C>T	TMPO (P430L)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2704851	NM_001032283.3(TMPO):c.565+995A>C	TMPO (K192N)	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2697046	NM_001032283.3(TMPO):c.565+1725T>A	TMPO (S436T)	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2683925	NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)	TGFBR2 (L230Q +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GLikely pathogenic
Select item 2574078	NM_003242.6(TGFBR2):c.1330C>T (p.Gln444Ter)	TGFBR2 (Q324* +8 more)	Single nucleotide variant (nonsense +1 more)	Loeys-Dietz syndrome 2	GPathogenic
Select item 2562957	NM_001032283.3(TMPO):c.471A>G (p.Arg157=)	TMPO	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 2560397	NM_001032283.3(TMPO):c.565+2192G>A	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 2444333	NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)	TGFBR2 (W231* +10 more)	Single nucleotide variant (nonsense)	Loeys-Dietz syndrome 2	GLikely pathogenic
Select item 2431494	NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp)	TGFBR2 (R3W)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2424665	NC_000012.11:g.(?_98909646)_(98909944_?)dup	TMPO	Duplication	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2417068	NM_001032283.3(TMPO):c.565+1595T>G	TMPO (S392R)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2198476	NM_001032283.3(TMPO):c.105C>T (p.Asp35=)	TMPO, TMPO-AS1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2190475	NM_001032283.3(TMPO):c.280-4A>G	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2188835	NM_001032283.3(TMPO):c.565+2362T>C	TMPO (V648A)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2179412	NM_001032283.3(TMPO):c.565+1643A>G	TMPO (I408M)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2178082	NM_001032283.3(TMPO):c.565+1007A>G	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2169684	NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del)	TMPO (S159del)	Microsatellite (inframe_deletion)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2164837	NM_001032283.3(TMPO):c.423A>G (p.Leu141=)	TMPO	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2163058	NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu)	TMPO, TMPO-AS1 (P2L)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2157371	NM_001032283.3(TMPO):c.565+1272del	TMPO (D285fs)	Deletion (intron variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2156902	NM_001032283.3(TMPO):c.407-4C>T	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2154903	NM_001032283.3(TMPO):c.565+1536_565+1543del	TMPO (L373fs)	Deletion (intron variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2152399	NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe)	LOC130008520, TMPO +1 more (L77F)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2151088	NM_001032283.3(TMPO):c.565+2220G>A	TMPO (A601T)	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2141827	NM_001032283.3(TMPO):c.280-18A>G	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2140113	NM_001032283.3(TMPO):c.565+2180C>T	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2126596	NM_001032283.3(TMPO):c.482C>A (p.Pro161His)	TMPO (P161H)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2119740	NM_001032283.3(TMPO):c.565+1590G>A	TMPO (G391S)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2118966	NM_001032283.3(TMPO):c.429G>A (p.Glu143=)	TMPO	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2100775	NM_001032283.3(TMPO):c.272T>C (p.Val91Ala)	LOC130008520, TMPO +1 more (V91A)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2095757	NM_001032283.3(TMPO):c.565+2222A>C	TMPO	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2088156	NM_001032283.3(TMPO):c.565+1637A>G	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2084948	NM_003242.6(TGFBR2):c.454+11T>C	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2 +1 more	GBenign/Likely benign
Select item 2082946	NM_001032283.3(TMPO):c.565+1932G>A	TMPO (E505K)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2068988	NM_001032283.3(TMPO):c.565+2085G>A	TMPO (A556T)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2065185	NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp)	TMPO, TMPO-AS1 (E70D)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2061980	NM_001032283.3(TMPO):c.565+2357C>T	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2052494	NM_001032283.3(TMPO):c.391C>T (p.Pro131Ser)	TMPO (P131S)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2046350	NM_001032283.3(TMPO):c.287C>T (p.Thr96Ile)	TMPO (T96I)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2043805	NM_001032283.3(TMPO):c.565+1808T>C	TMPO	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2043258	NM_001032283.3(TMPO):c.565+2169A>G	TMPO (T584A)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2041234	NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile)	TMPO, TMPO-AS1 (T57I)	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2040388	NM_001032283.3(TMPO):c.565+1935T>C	TMPO (W506R)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2031834	NM_001032283.3(TMPO):c.478_480del (p.Thr160del)	TMPO (T160del)	Deletion (inframe_deletion)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2030829	NM_001032283.3(TMPO):c.528A>G (p.Gly176=)	TMPO	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 2016454	NM_001032283.3(TMPO):c.565+1154T>C	TMPO	Single nucleotide variant (intron variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign

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