"Ambry Genetics"[submitter] AND "MTOR"[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 946411	NM_004958.4(MTOR):c.7496A>G (p.Gln2499Arg)	MTOR (Q2499R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1011091	NM_004958.4(MTOR):c.7378G>A (p.Gly2460Ser)	MTOR (G2460S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 520633	NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile)	MTOR (S2413I)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GPathogenic
Select item 2256342	NM_004958.4(MTOR):c.7039G>A (p.Asp2347Asn)	MTOR (D1931N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 863366	NM_004958.4(MTOR):c.6875A>G (p.Asn2292Ser)	MTOR (N2292S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2591035	NM_004958.4(MTOR):c.6650G>A (p.Arg2217Gln)	MTOR (R2217Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217274	NM_004958.4(MTOR):c.6536G>C (p.Gly2179Ala)	MTOR (G1763A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1499480	NM_004958.4(MTOR):c.6535G>A (p.Gly2179Arg)	MTOR (G1763R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2230932	NM_004958.4(MTOR):c.6401G>C (p.Arg2134Pro)	MTOR (R2134P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 623675	NM_004958.4(MTOR):c.6329G>A (p.Arg2110Gln)	MTOR (R2110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3296750	NM_004958.4(MTOR):c.6288C>G (p.Asp2096Glu)	MTOR (D1680E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3217260	NM_004958.4(MTOR):c.5975A>G (p.Asn1992Ser)	MTOR (N1576S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217257	NM_004958.4(MTOR):c.5959C>T (p.Arg1987Trp)	MTOR (R1987W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 644674	NM_004958.4(MTOR):c.5759A>G (p.Asn1920Ser)	MTOR (N1920S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2525829	NM_004958.4(MTOR):c.5614G>T (p.Asp1872Tyr)	MTOR (D1456Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1002410	NM_004958.4(MTOR):c.5591C>T (p.Pro1864Leu)	MTOR (P1864L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3217244	NM_004958.4(MTOR):c.5585C>A (p.Pro1862Gln)	MTOR (P1446Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1003859	NM_004958.4(MTOR):c.5569G>A (p.Glu1857Lys)	MTOR (E1857K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 217823	NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)	MTOR (E1799K)	Single nucleotide variant (missense variant)	CEBALID syndrome +5 more	GPathogenic
Select item 1043344	NM_004958.4(MTOR):c.5365-5A>G	MTOR	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1004066	NM_004958.4(MTOR):c.5197G>A (p.Ala1733Thr)	MTOR (A1733T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2264983	NM_004958.4(MTOR):c.5125C>T (p.Arg1709Cys)	MTOR (R1293C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305109	NM_004958.4(MTOR):c.5047C>T (p.Arg1683Trp)	MTOR (R1683W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2225302	NM_004958.4(MTOR):c.4885A>G (p.Ile1629Val)	MTOR (I1629V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	not provided +1 more	GBenign/Likely benign
Select item 951162	NM_004958.4(MTOR):c.4649T>G (p.Leu1550Arg)	MTOR, MTOR-AS1 (L1550R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1484219	NM_004958.4(MTOR):c.4570+5A>G	MTOR	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 958534	NM_004958.4(MTOR):c.4540C>T (p.Arg1514Trp)	MTOR (R1514W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2290901	NM_004958.4(MTOR):c.4381G>C (p.Val1461Leu)	MTOR (V1045L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217212	NM_004958.4(MTOR):c.4331A>G (p.Glu1444Gly)	MTOR (E1444G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1646881	NM_004958.4(MTOR):c.4254-5C>A	MTOR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2302553	NM_021146.4(ANGPTL7):c.40A>G (p.Ile14Val)	ANGPTL7, MTOR (I14V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118836	NM_021146.4(ANGPTL7):c.122A>G (p.Lys41Arg)	ANGPTL7, MTOR (K41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340902	NM_021146.4(ANGPTL7):c.261C>G (p.Asn87Lys)	ANGPTL7, MTOR (N87K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292064	NM_021146.4(ANGPTL7):c.268C>T (p.Arg90Cys)	ANGPTL7, MTOR (R90C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533891	NM_021146.4(ANGPTL7):c.269G>A (p.Arg90His)	ANGPTL7, MTOR (R90H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118856	NM_021146.4(ANGPTL7):c.281G>A (p.Arg94Gln)	ANGPTL7, MTOR (R94Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621277	NM_021146.4(ANGPTL7):c.452A>C (p.Asp151Ala)	ANGPTL7, MTOR (D151A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557229	NM_021146.4(ANGPTL7):c.562T>C (p.Trp188Arg)	ANGPTL7, MTOR (W188R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118869	NM_021146.4(ANGPTL7):c.574A>C (p.Lys192Gln)	ANGPTL7, MTOR (K192Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531682	NM_021146.4(ANGPTL7):c.641G>T (p.Arg214Ile)	ANGPTL7, MTOR (R214I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294280	NM_021146.4(ANGPTL7):c.659G>A (p.Arg220His)	ANGPTL7, MTOR (R220H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600173	NM_021146.4(ANGPTL7):c.683G>C (p.Gly228Ala)	ANGPTL7, MTOR (G228A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118877	NM_021146.4(ANGPTL7):c.691C>T (p.Arg231Cys)	ANGPTL7, LOC129388452 +1 more (R231C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118880	NM_021146.4(ANGPTL7):c.811T>A (p.Phe271Ile)	ANGPTL7, LOC129388452 +1 more (F271I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294286	NM_021146.4(ANGPTL7):c.818C>T (p.Thr273Ile)	ANGPTL7, LOC129388452 +1 more (T273I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118885	NM_021146.4(ANGPTL7):c.863T>A (p.Leu288His)	ANGPTL7, LOC129388452 +1 more (L288H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591576	NM_021146.4(ANGPTL7):c.865C>T (p.Arg289Cys)	ANGPTL7, LOC129388452 +1 more (R289C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337180	NM_021146.4(ANGPTL7):c.869A>G (p.Lys290Arg)	ANGPTL7, LOC129388452 +1 more (K290R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118891	NM_021146.4(ANGPTL7):c.911A>G (p.Asn304Ser)	ANGPTL7, MTOR (N304S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118896	NM_021146.4(ANGPTL7):c.925C>T (p.Arg309Cys)	ANGPTL7, MTOR (R309C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329899	NM_021146.4(ANGPTL7):c.1019G>A (p.Arg340His)	ANGPTL7, MTOR (R340H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593124	NM_021146.4(ANGPTL7):c.1034A>G (p.Lys345Arg)	ANGPTL7, MTOR (K345R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298294	NM_004958.4(MTOR):c.4193A>G (p.His1398Arg)	MTOR (H1398R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299551	NM_004958.4(MTOR):c.4150G>A (p.Gly1384Ser)	MTOR (G1384S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1014971	NM_004958.4(MTOR):c.3849G>T (p.Trp1283Cys)	MTOR (W1283C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1648119	NM_004958.4(MTOR):c.3802-5C>T	MTOR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2308675	NM_004958.4(MTOR):c.3313G>A (p.Ala1105Thr)	MTOR (A689T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 955102	NM_004958.4(MTOR):c.3271A>G (p.Ile1091Val)	MTOR (I1091V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 700252	NM_004958.4(MTOR):c.3247A>G (p.Met1083Val)	MTOR (M1083V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 521791	NM_004958.4(MTOR):c.3088T>C (p.Tyr1030His)	MTOR (Y1030H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1023857	NM_004958.4(MTOR):c.2987C>T (p.Thr996Met)	MTOR (T996M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2857055	NM_004958.4(MTOR):c.2894C>G (p.Ser965Cys)	MTOR (S549C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 3217180	NM_004958.4(MTOR):c.2816G>T (p.Gly939Val)	MTOR (G939V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618517	NM_004958.4(MTOR):c.2611T>A (p.Phe871Ile)	MTOR (F455I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321330	NM_004958.4(MTOR):c.2537A>T (p.Gln846Leu)	MTOR (Q846L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1063413	NM_004958.4(MTOR):c.2441G>A (p.Arg814Lys)	MTOR (R398K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3217164	NM_004958.4(MTOR):c.2422-4G>T	MTOR	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3217161	NM_004958.4(MTOR):c.2362C>A (p.Pro788Thr)	MTOR (P372T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286540	NM_004958.4(MTOR):c.2296dup (p.Arg766fs)	MTOR (R350fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 841239	NM_004958.4(MTOR):c.2285C>T (p.Ser762Phe)	MTOR (S762F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1974679	NM_004958.4(MTOR):c.2141C>A (p.Thr714Asn)	MTOR (T298N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1089853	NM_004958.4(MTOR):c.2056C>T (p.His686Tyr)	MTOR (H270Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 648203	NM_004958.4(MTOR):c.1942G>A (p.Ala648Thr)	MTOR (A648T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1022430	NM_004958.4(MTOR):c.1600G>A (p.Asp534Asn)	MTOR (D534N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1347038	NM_004958.4(MTOR):c.1426A>G (p.Met476Val)	MTOR (M476V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 654252	NM_004958.4(MTOR):c.1348G>A (p.Val450Ile)	MTOR (V450I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 521046	NM_004958.4(MTOR):c.1276_1341dup (p.Lys426_Glu447dup)	MTOR	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2486985	NM_004958.4(MTOR):c.1054G>T (p.Ala352Ser)	MTOR (A352S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549244	NM_004958.4(MTOR):c.910A>G (p.Met304Val)	MTOR (M304V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 663168	NM_004958.4(MTOR):c.905A>T (p.Asp302Val)	MTOR (D302V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 985195	NM_004958.4(MTOR):c.433G>A (p.Val145Met)	MTOR (V145M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 699135	NM_004958.4(MTOR):c.395G>A (p.Arg132His)	MTOR (R132H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1923996	NM_004958.4(MTOR):c.138C>G (p.His46Gln)	MTOR (H46Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 969369	NM_004958.4(MTOR):c.61G>A (p.Val21Ile)	MTOR (V21I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

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Items: 87