3942[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 57720	GRCh38/hg38 1p36.22(chr1:10637036-11293430)x3	ANGPTL7, C1orf127 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 1237596	NM_004958.4(MTOR):c.*829A>G	MTOR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1189891	NM_004958.4(MTOR):c.*63C>T	MTOR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1274284	NM_004958.4(MTOR):c.*1C>G	MTOR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2095355	NM_004958.4(MTOR):c.7637G>T (p.Cys2546Phe)	MTOR (C2546F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 640092	NM_004958.4(MTOR):c.7635-3T>C	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1907789	NM_004958.4(MTOR):c.7635-12C>G	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603095	NM_004958.4(MTOR):c.7635-18T>G	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277670	NM_004958.4(MTOR):c.7635-41C>G	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267226	NM_004958.4(MTOR):c.7635-203G>A	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225480	NM_004958.4(MTOR):c.7635-272G>A	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283465	NM_004958.4(MTOR):c.7634+328G>A	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276271	NM_004958.4(MTOR):c.7634+190A>T	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218120	NM_004958.4(MTOR):c.7634+140T>C	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610693	NM_004958.4(MTOR):c.7634+15C>T	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098491	NM_004958.4(MTOR):c.7634+11C>T	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 862815	NM_004958.4(MTOR):c.7634+6T>C	MTOR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2179712	NM_004958.4(MTOR):c.7634+4A>G	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1976892	NM_004958.4(MTOR):c.7629T>C (p.Ile2543=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1307206	NM_004958.4(MTOR):c.7628T>C (p.Ile2543Thr)	MTOR (I2127T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371764	NM_004958.4(MTOR):c.7619A>T (p.Gln2540Leu)	MTOR (Q2124L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554544	NM_004958.4(MTOR):c.7614C>T (p.Leu2538=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742768	NM_004958.4(MTOR):c.7613T>C (p.Leu2538Pro)	MTOR (L2122P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868649	NM_004958.4(MTOR):c.7599A>C (p.Thr2533=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1140243	NM_004958.4(MTOR):c.7596G>A (p.Ala2532=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374970	NM_004958.4(MTOR):c.7595C>G (p.Ala2532Gly)	MTOR (A2116G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696762	NM_004958.4(MTOR):c.7593A>G (p.Gln2531=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 918031	NM_004958.4(MTOR):c.7576G>A (p.Glu2526Lys)	MTOR (E2526K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790039	NM_004958.4(MTOR):c.7573G>A (p.Val2525Ile)	MTOR (V2525I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446047	NM_004958.4(MTOR):c.7570C>T (p.Gln2524Ter)	MTOR (Q2108* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1904232	NM_004958.4(MTOR):c.7569G>A (p.Thr2523=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239588	NM_004958.4(MTOR):c.7562T>A (p.Val2521Asp)	MTOR (V2105D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 948871	NM_004958.4(MTOR):c.7561G>A (p.Val2521Ile)	MTOR (V2521I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996989	NM_004958.4(MTOR):c.7560T>C (p.Asp2520=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772560	NM_004958.4(MTOR):c.7557G>A (p.Leu2519=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830533	NM_004958.4(MTOR):c.7545T>C (p.His2515=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 856026	NM_004958.4(MTOR):c.7540T>G (p.Ser2514Ala)	MTOR (S2514A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1806095	NM_004958.4(MTOR):c.7534G>C (p.Asp2512His)	MTOR (D2096H +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2918169	NM_004958.4(MTOR):c.7533G>A (p.Arg2511=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325857	NM_004958.4(MTOR):c.7529G>T (p.Gly2510Val)	MTOR (G2094V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2702455	NM_004958.4(MTOR):c.7529-7G>T	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602366	NM_004958.4(MTOR):c.7529-9C>T	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029308	NM_004958.4(MTOR):c.7529-10C>T	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180995	NM_004958.4(MTOR):c.7529-42T>G	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264170	NM_004958.4(MTOR):c.7529-186T>C	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206873	NM_004958.4(MTOR):c.7529-283G>A	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198014	NM_004958.4(MTOR):c.7528+108A>G	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198326	NM_004958.4(MTOR):c.7528+75C>T	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212722	NM_004958.4(MTOR):c.7528+74C>G	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578119	NM_004958.4(MTOR):c.7528+19T>C	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874116	NM_004958.4(MTOR):c.7528+16G>A	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718522	NM_004958.4(MTOR):c.7528+12_7528+13del	MTOR	Deletion (intron variant)	not provided	GLikely benign
Select item 939504	NM_004958.4(MTOR):c.7514G>A (p.Arg2505Gln)	MTOR (R2505Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376127	NM_004958.4(MTOR):c.7514G>C (p.Arg2505Pro)	MTOR (R2505P)	Single nucleotide variant (missense variant)	Renal carcinoma	GLikely pathogenic
Select item 699861	NM_004958.4(MTOR):c.7509G>A (p.Arg2503=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981176	NM_004958.4(MTOR):c.7501A>T (p.Ile2501Phe)	MTOR (I2501F)	Single nucleotide variant (missense variant)	CEBALID syndrome	GPathogenic
Select item 656999	NM_004958.4(MTOR):c.7501A>G (p.Ile2501Val)	MTOR (I2501V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376455	NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met)	MTOR (I2500M)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GLikely pathogenic
Select item 376456	NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe)	MTOR (I2500F)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 2693951	NM_004958.4(MTOR):c.7497G>C (p.Gln2499His)	MTOR (Q2083H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2957279	NM_004958.4(MTOR):c.7473G>A (p.Glu2491=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200784	NM_004958.4(MTOR):c.7456G>A (p.Gly2486Ser)	MTOR (G2070S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 695429	NM_004958.4(MTOR):c.7455C>T (p.Asp2485=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 948317	NM_004958.4(MTOR):c.7448-10T>G	MTOR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1585533	NM_004958.4(MTOR):c.7448-13T>C	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2177480	NM_004958.4(MTOR):c.7448-16C>A	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268312	NM_004958.4(MTOR):c.7447+30G>A	MTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296984	NM_004958.4(MTOR):c.7447+27C>A	MTOR	Single nucleotide variant (intron variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 2156820	NM_004958.4(MTOR):c.7447+20A>G	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856541	NM_004958.4(MTOR):c.7447+9A>G	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 757301	NM_004958.4(MTOR):c.7447+7T>G	MTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826242	NM_004958.4(MTOR):c.7437T>G (p.Ile2479Met)	MTOR (I2063M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178950	NM_004958.4(MTOR):c.7437T>C (p.Ile2479=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400083	NM_004958.4(MTOR):c.7435A>G (p.Ile2479Val)	MTOR (I2063V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2819536	NM_004958.4(MTOR):c.7430A>T (p.Glu2477Val)	MTOR (E2477V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101181	NM_004958.4(MTOR):c.7424T>C (p.Val2475Ala)	MTOR (V2059A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1394054	NM_004958.4(MTOR):c.7421C>T (p.Thr2474Ile)	MTOR (T2474I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 957678	NM_004958.4(MTOR):c.7416G>T (p.Gly2472=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719792	NM_004958.4(MTOR):c.7413G>A (p.Thr2471=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733335	NM_004958.4(MTOR):c.7412C>T (p.Thr2471Met)	MTOR (T2471M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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