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

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 696762	NM_004958.4(MTOR):c.7593A>G (p.Gln2531=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 957678	NM_004958.4(MTOR):c.7416G>T (p.Gly2472=)	MTOR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 696706	NM_004958.4(MTOR):c.7401C>G (p.Ala2467=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 1011091	NM_004958.4(MTOR):c.7378G>A (p.Gly2460Ser)	MTOR (G2460S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2902700	NM_004958.4(MTOR):c.7332G>A (p.Thr2444=)	MTOR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1165324	NM_004958.4(MTOR):c.7314C>T (p.Gly2438=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 698256	NM_004958.4(MTOR):c.7272C>T (p.Asp2424=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 414907	NM_004958.4(MTOR):c.7158T>C (p.Ala2386=)	MTOR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 696753	NM_004958.4(MTOR):c.7089+9A>G	MTOR	Single nucleotide variant (intron variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 3048499	NM_004958.4(MTOR):c.7077G>A (p.Gly2359=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder	GLikely benign
Select item 696427	NM_004958.4(MTOR):c.6819G>A (p.Pro2273=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 697334	NM_004958.4(MTOR):c.6675C>T (p.Tyr2225=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 698674	NM_004958.4(MTOR):c.6585T>C (p.Asp2195=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 2632137	NM_004958.4(MTOR):c.6520C>A (p.Leu2174Ile)	MTOR (L1758I +1 more)	Single nucleotide variant (missense variant)	MTOR-related disorder	GUncertain significance
Select item 850255	NM_004958.4(MTOR):c.6508C>T (p.Arg2170Trp)	MTOR (R2170W)	Single nucleotide variant (missense variant)	MTOR-related disorder +1 more	GUncertain significance
Select item 727177	NM_004958.4(MTOR):c.6352-10T>C	MTOR	Single nucleotide variant (intron variant)	MTOR-related disorder +1 more	GLikely benign
Select item 2635154	NM_004958.4(MTOR):c.6045G>T (p.Glu2015Asp)	MTOR (E1599D +1 more)	Single nucleotide variant (missense variant)	MTOR-related disorder	GUncertain significance
Select item 3030951	NM_004958.4(MTOR):c.5849G>A (p.Arg1950Lys)	MTOR (R1534K +1 more)	Single nucleotide variant (missense variant)	MTOR-related disorder	GUncertain significance
Select item 2041313	NM_004958.4(MTOR):c.5806C>T (p.Leu1936=)	MTOR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 408296	NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile)	MTOR (V1885I)	Single nucleotide variant (missense variant)	MTOR-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1094343	NM_004958.4(MTOR):c.5532C>T (p.Thr1844=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GLikely benign
Select item 695823	NM_004958.4(MTOR):c.5501C>T (p.Thr1834Met)	MTOR (T1834M)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 1591307	NM_004958.4(MTOR):c.5247-8G>A	MTOR	Single nucleotide variant (intron variant)	MTOR-related disorder +1 more	GLikely benign
Select item 770484	NM_004958.4(MTOR):c.5246+9C>T	MTOR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 770485	NM_004958.4(MTOR):c.5246+8C>G	MTOR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1004066	NM_004958.4(MTOR):c.5197G>A (p.Ala1733Thr)	MTOR (A1733T)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 701380	NM_004958.4(MTOR):c.5154G>A (p.Gln1718=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GLikely benign
Select item 698720	NM_004958.4(MTOR):c.5133C>T (p.Ile1711=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 408298	NM_004958.4(MTOR):c.4941T>G (p.His1647Gln)	MTOR (H1647Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 642819	NM_004958.4(MTOR):c.4841T>C (p.Ile1614Thr)	MTOR, MTOR-AS1 (I1614T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1378072	NM_004958.4(MTOR):c.4835G>A (p.Arg1612Gln)	MTOR, MTOR-AS1 (R1196Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3046635	NM_004958.4(MTOR):c.4794G>A (p.Glu1598=)	MTOR, MTOR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	MTOR-related disorder	GLikely benign
Select item 1118649	NM_004958.4(MTOR):c.4737A>G (p.Ala1579=)	MTOR, MTOR-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 698173	NM_004958.4(MTOR):c.4687-12dup	MTOR, MTOR-AS1	Duplication (intron variant)	MTOR-related disorder +1 more	GLikely benign
Select item 3061270	NM_004958.4(MTOR):c.4605G>A (p.Met1535Ile)	MTOR, MTOR-AS1 (M1119I +1 more)	Single nucleotide variant (missense variant)	MTOR-related disorder	GUncertain significance
Select item 1021836	NM_004958.4(MTOR):c.4475A>G (p.Gln1492Arg)	MTOR (Q1492R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3029593	NM_004958.4(MTOR):c.4453G>A (p.Glu1485Lys)	MTOR (E1069K +1 more)	Single nucleotide variant (missense variant)	MTOR-related disorder	GUncertain significance
Select item 1223460	NM_004958.4(MTOR):c.4444C>T (p.Arg1482Cys)	MTOR (R1066C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3053575	NM_004958.4(MTOR):c.4320T>C (p.Phe1440=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder	GLikely benign
Select item 700061	NM_004958.4(MTOR):c.3802-4A>G	MTOR	Single nucleotide variant (intron variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 783153	NM_004958.4(MTOR):c.3791A>G (p.Asn1264Ser)	MTOR (N1264S)	Single nucleotide variant (missense variant)	MTOR-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2157171	NM_004958.4(MTOR):c.3599T>C (p.Val1200Ala)	MTOR (V1200A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2633833	NM_004958.4(MTOR):c.3481C>T (p.Arg1161Ter)	MTOR (R1161* +1 more)	Single nucleotide variant (nonsense)	MTOR-related disorder	GUncertain significance
Select item 1051102	NM_004958.4(MTOR):c.3418G>A (p.Asp1140Asn)	MTOR (D1140N +1 more)	Single nucleotide variant (missense variant)	MTOR-related disorder +1 more	GUncertain significance
Select item 2631192	NM_004958.4(MTOR):c.3416_3417del (p.Val1139fs)	MTOR (V1139fs +1 more)	Microsatellite (frameshift variant)	MTOR-related disorder +1 more	GUncertain significance
Select item 703170	NM_004958.4(MTOR):c.3401C>T (p.Ala1134Val)	MTOR (A1134V)	Single nucleotide variant (missense variant)	MTOR-related disorder +1 more	GBenign
Select item 2630455	NM_004958.4(MTOR):c.3395G>T (p.Arg1132Leu)	MTOR (R1132L +1 more)	Single nucleotide variant (missense variant)	MTOR-related disorder	GUncertain significance
Select item 784876	NM_004958.4(MTOR):c.3340C>T (p.Leu1114=)	MTOR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1666527	NM_004958.4(MTOR):c.3324T>C (p.Asp1108=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GLikely benign
Select item 1659181	NM_004958.4(MTOR):c.3261C>T (p.Ser1087=)	MTOR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1130763	NM_004958.4(MTOR):c.2988G>A (p.Thr996=)	MTOR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1112740	NM_004958.4(MTOR):c.2857G>A (p.Val953Met)	MTOR (V537M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 695319	NM_004958.4(MTOR):c.2805G>A (p.Leu935=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 2629271	NM_004958.4(MTOR):c.2786A>G (p.Tyr929Cys)	MTOR (Y513C +1 more)	Single nucleotide variant (missense variant)	MTOR-related disorder	GUncertain significance
Select item 696290	NM_004958.4(MTOR):c.2472C>T (p.Ile824=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 696484	NM_004958.4(MTOR):c.2301C>T (p.Leu767=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 652259	NM_004958.4(MTOR):c.2208+6C>T	MTOR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1086052	NM_004958.4(MTOR):c.2103T>C (p.Asn701=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GLikely benign
Select item 3055091	NM_004958.4(MTOR):c.2002+10G>T	MTOR	Single nucleotide variant (intron variant)	MTOR-related disorder	GLikely benign
Select item 1205811	NM_004958.4(MTOR):c.1855C>T (p.Arg619Cys)	MTOR (R203C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 696736	NM_004958.4(MTOR):c.1854C>A (p.Ile618=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GLikely benign
Select item 1090019	NM_004958.4(MTOR):c.1653C>G (p.Pro551=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GLikely benign
Select item 696117	NM_004958.4(MTOR):c.1566C>T (p.Tyr522=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 2636374	NM_004958.4(MTOR):c.1474G>T (p.Ala492Ser)	MTOR (A492S +1 more)	Single nucleotide variant (missense variant)	MTOR-related disorder	GUncertain significance
Select item 1970858	NM_004958.4(MTOR):c.1456A>G (p.Ile486Val)	MTOR (I486V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2636647	NM_004958.4(MTOR):c.1372A>G (p.Ile458Val)	MTOR (I42V +1 more)	Single nucleotide variant (missense variant)	MTOR-related disorder	GUncertain significance
Select item 408307	NM_004958.4(MTOR):c.1145A>G (p.Asn382Ser)	MTOR (N382S)	Single nucleotide variant (missense variant)	MTOR-related disorder +3 more	GBenign/Likely benign
Select item 2996516	NM_004958.4(MTOR):c.1117-5C>T	MTOR	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1078830	NM_004958.4(MTOR):c.1047C>G (p.Pro349=)	MTOR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 414904	NM_004958.4(MTOR):c.985G>A (p.Ala329Thr)	MTOR (A329T)	Single nucleotide variant (missense variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 3029210	NM_004958.4(MTOR):c.840+8G>A	MTOR	Single nucleotide variant (intron variant)	MTOR-related disorder	GLikely benign
Select item 240082	NM_004958.4(MTOR):c.831G>T (p.Met277Ile)	MTOR (M277I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1520909	NM_004958.4(MTOR):c.707A>G (p.His236Arg)	MTOR (H236R)	Single nucleotide variant (missense variant +1 more)	MTOR-related disorder +1 more	GUncertain significance
Select item 414899	NM_004958.4(MTOR):c.663C>G (p.Thr221=)	MTOR	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3048922	NM_004958.4(MTOR):c.579C>T (p.Asn193=)	MTOR	Single nucleotide variant (synonymous variant +1 more)	MTOR-related disorder	GLikely benign
Select item 766754	NM_004958.4(MTOR):c.564A>G (p.Gln188=)	MTOR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2076913	NM_004958.4(MTOR):c.505-9_505-7dup	MTOR	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 740255	NM_004958.4(MTOR):c.490C>A (p.Arg164=)	MTOR	Single nucleotide variant (synonymous variant)	MTOR-related disorder +1 more	GLikely benign
Select item 701588	NM_004958.4(MTOR):c.482A>G (p.Asn161Ser)	MTOR (N161S)	Single nucleotide variant (missense variant)	MTOR-related disorder +1 more	GBenign/Likely benign
Select item 2080014	NM_004958.4(MTOR):c.272C>T (p.Ala91Val)	MTOR (A91V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3055270	NM_004958.4(MTOR):c.239C>T (p.Ala80Val)	MTOR (A80V)	Single nucleotide variant (missense variant +1 more)	MTOR-related disorder	GUncertain significance
Select item 3051865	NM_004958.4(MTOR):c.234A>G (p.Ser78=)	MTOR	Single nucleotide variant (synonymous variant +1 more)	MTOR-related disorder	GLikely benign
Select item 2632054	NM_004958.4(MTOR):c.13G>C (p.Gly5Arg)	MTOR (G5R)	Single nucleotide variant (missense variant +1 more)	MTOR-related disorder	GUncertain significance

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Items: 83