TMPO[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 590

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 684070	NM_001032283.3(TMPO):c.280-321C>T	TMPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258289	NM_001032283.3(TMPO):c.280-286A>T	TMPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201881	NM_001032283.3(TMPO):c.280-188A>G	TMPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672959	NM_001032283.3(TMPO):c.280-131G>T	TMPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673084	NM_001032283.3(TMPO):c.280-102A>G	TMPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672960	NM_001032283.3(TMPO):c.280-90G>T	TMPO	Single nucleotide variant (intron variant)	not provided	GBenign
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 2958264	NM_001032283.3(TMPO):c.280-13A>G	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
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 1996257	NM_001032283.3(TMPO):c.280-11T>G	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1168444	NM_001032283.3(TMPO):c.280-9T>C	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GBenign
Select item 522273	NM_001032283.3(TMPO):c.280-8G>A	TMPO	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1T +1 more	GBenign/Likely 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 1309297	NM_001032283.3(TMPO):c.280-3C>T	TMPO	Single nucleotide variant (intron variant)	not provided	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 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 618432	NM_001032283.3(TMPO):c.284C>A (p.Ala95Asp)	TMPO (A95D)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 518670	NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu)	TMPO (K97E)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 1389456	NM_001032283.3(TMPO):c.296C>G (p.Thr99Ser)	TMPO (T99S)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1799462	NM_001032283.3(TMPO):c.306C>T (p.Pro102=)	TMPO	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 2447967	NM_001032283.3(TMPO):c.308G>A (p.Arg103Lys)	TMPO (R103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727547	NM_001032283.3(TMPO):c.309A>G (p.Arg103=)	TMPO	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 939154	NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu)	TMPO (D106E)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GConflicting classifications of pathogenicity
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 2014483	NM_001032283.3(TMPO):c.324T>A (p.Asp108Glu)	TMPO (D108E)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	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 518576	NM_001032283.3(TMPO):c.328C>T (p.Leu110=)	TMPO	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 511301	NM_001032283.3(TMPO):c.330A>G (p.Leu110=)	TMPO	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1395478	NM_001032283.3(TMPO):c.331G>C (p.Asp111His)	TMPO (D111H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 191786	NM_001032283.3(TMPO):c.331G>A (p.Asp111Asn)	TMPO (D111N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1730404	NM_001032283.3(TMPO):c.333T>A (p.Asp111Glu)	TMPO (D111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1730794	NM_001032283.3(TMPO):c.337A>G (p.Thr113Ala)	TMPO (T113A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 202139	NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser)	TMPO (N117S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 387399	NM_001032283.3(TMPO):c.357T>G (p.Asp119Glu)	TMPO (D119E)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 191787	NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile)	TMPO (L120I)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2562960	NM_001032283.3(TMPO):c.363G>A (p.Leu121=)	TMPO	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1377828	NM_001032283.3(TMPO):c.365A>T (p.Asp122Val)	TMPO (D122V)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
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 427956	NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe)	TMPO (L124F)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 849340	NM_001032283.3(TMPO):c.373G>A (p.Val125Met)	TMPO (V125M)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1035147	NM_001032283.3(TMPO):c.380A>G (p.Tyr127Cys)	TMPO (Y127C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1735239	NM_001032283.3(TMPO):c.381C>T (p.Tyr127=)	TMPO	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 191788	NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg)	TMPO (G128R)	Single nucleotide variant (missense variant)	not provided +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 1735693	NM_001032283.3(TMPO):c.386T>G (p.Val129Gly)	TMPO (V129G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1064011	NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg)	TMPO (P131R)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 1736423	NM_001032283.3(TMPO):c.394G>C (p.Gly132Arg)	TMPO (G132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44671	NM_001032283.3(TMPO):c.396T>A (p.Gly132=)	TMPO	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 202140	NM_001032283.3(TMPO):c.398C>T (p.Pro133Leu)	TMPO (P133L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1736832	NM_001032283.3(TMPO):c.399T>C (p.Pro133=)	TMPO	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1736989	NM_001032283.3(TMPO):c.400A>C (p.Ile134Leu)	TMPO (I134L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1436113	NM_001032283.3(TMPO):c.400A>T (p.Ile134Phe)	TMPO (I134F)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1206551	NM_001032283.3(TMPO):c.406+296G>C	TMPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188621	NM_001032283.3(TMPO):c.406+304G>A	TMPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207384	NM_001032283.3(TMPO):c.407-219C>T	TMPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672961	NM_001032283.3(TMPO):c.407-203T>C	TMPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674686	NM_001032283.3(TMPO):c.407-96G>C	TMPO	Single nucleotide variant (intron variant)	not provided	GBenign
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 1738814	NM_001032283.3(TMPO):c.421C>T (p.Leu141=)	TMPO	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2118966	NM_001032283.3(TMPO):c.429G>A (p.Glu143=)	TMPO	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	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 1639439	NM_001032283.3(TMPO):c.441G>A (p.Leu147=)	TMPO	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 1470659	NM_001032283.3(TMPO):c.443A>G (p.Lys148Arg)	TMPO (K148R)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1741411	NM_001032283.3(TMPO):c.454C>G (p.Gln152Glu)	TMPO (Q152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1993947	NM_001032283.3(TMPO):c.460A>C (p.Thr154Pro)	TMPO (T154P)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1145645	NM_001032283.3(TMPO):c.462A>G (p.Thr154=)	TMPO	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 1742165	NM_001032283.3(TMPO):c.464A>G (p.Glu155Gly)	TMPO (E155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2169684	NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del)	TMPO (S159del)	Microsatellite (inframe_deletion)	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 1348219	NM_001032283.3(TMPO):c.476C>T (p.Ser159Phe)	TMPO (S159F)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1518854	NM_001032283.3(TMPO):c.478A>C (p.Thr160Pro)	TMPO (T160P)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1743157	NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile)	TMPO (T160I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1062151	NM_001032283.3(TMPO):c.482C>T (p.Pro161Leu)	TMPO (P161L)	Single nucleotide variant (missense variant)	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 1416212	NM_001032283.3(TMPO):c.485T>G (p.Leu162Arg)	TMPO (L162R)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1716688	NM_001032283.3(TMPO):c.493A>G (p.Ile165Val)	TMPO (I165V)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 519141	NM_001032283.3(TMPO):c.497C>G (p.Ser166Cys)	TMPO (S166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 202141	NM_001032283.3(TMPO):c.497C>A (p.Ser166Tyr)	TMPO (S166Y)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 1019321	NM_001032283.3(TMPO):c.517A>G (p.Arg173Gly)	TMPO (R173G)	Single nucleotide variant (missense variant)	not provided +2 more	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 2030829	NM_001032283.3(TMPO):c.528A>G (p.Gly176=)	TMPO	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 449608	NM_001032283.3(TMPO):c.529A>G (p.Ser177Gly)	TMPO (S177G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44672	NM_001032283.3(TMPO):c.534T>C (p.Asn178=)	TMPO	Single nucleotide variant (synonymous variant)	not provided +3 more	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 2605503	NM_001032283.3(TMPO):c.539C>T (p.Ser180Phe)	TMPO (S180F)	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 191789	NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser)	TMPO (N186S)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1142909	NM_001032283.3(TMPO):c.565+8T>C	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
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 3014458	NM_001032283.3(TMPO):c.565+19T>C	TMPO	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 671210	NM_001032283.3(TMPO):c.565+34G>T	TMPO	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 6