List of variants in gene MTOR reported as uncertain significance for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_004958.4(MTOR):c.743C>T (p.Thr248Ile)	rs377679898	0.00005
NM_004958.4(MTOR):c.5060A>G (p.His1687Arg)	rs376436419	0.00002
NM_004958.4(MTOR):c.5890A>G (p.Ile1964Val)	rs759436987	0.00002
NM_004958.4(MTOR):c.1244A>G (p.Asp415Gly)	rs1288219609	0.00001
NM_004958.4(MTOR):c.2083G>T (p.Ala695Ser)	rs1647432818	0.00001
NM_004958.4(MTOR):c.4597A>G (p.Thr1533Ala)	rs1250124959	0.00001
NM_004958.4(MTOR):c.5431C>T (p.Arg1811Cys)	rs1258909652	0.00001
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val)	rs1010993658	0.00001
NM_004958.4(MTOR):c.6871G>A (p.Val2291Ile)	rs774791298	0.00001
NM_004958.4(MTOR):c.7096A>G (p.Met2366Val)	rs1314272593	0.00001
NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del)	rs1641966003	0.00001
NM_004958.4(MTOR):c.1060T>A (p.Ser354Thr)	rs2523387808
NM_004958.4(MTOR):c.1438G>T (p.Ala480Ser)	rs201601333
NM_004958.4(MTOR):c.1559T>C (p.Val520Ala)	rs2523333227
NM_004958.4(MTOR):c.1951G>C (p.Val651Leu)	rs1346689037
NM_004958.4(MTOR):c.2110G>A (p.Val704Met)	rs775657387
NM_004958.4(MTOR):c.221T>C (p.Leu74Ser)	rs2523469392
NM_004958.4(MTOR):c.2295C>A (p.Pro765=)	rs2523286401
NM_004958.4(MTOR):c.2579A>T (p.Lys860Met)	rs1441440583
NM_004958.4(MTOR):c.2959G>A (p.Val987Met)	rs2100855037
NM_004958.4(MTOR):c.3074G>C (p.Ser1025Thr)	rs2100806593
NM_004958.4(MTOR):c.3462G>T (p.Arg1154=)	rs17036536
NM_004958.4(MTOR):c.394C>T (p.Arg132Cys)	rs747458067
NM_004958.4(MTOR):c.3961G>A (p.Ala1321Thr)	rs1316310809
NM_004958.4(MTOR):c.422C>T (p.Thr141Ile)	rs1266943208
NM_004958.4(MTOR):c.4360C>T (p.His1454Tyr)	rs2100568346
NM_004958.4(MTOR):c.4606A>G (p.Ile1536Val)	rs886041096
NM_004958.4(MTOR):c.505-2A>G	rs869312706
NM_004958.4(MTOR):c.5113T>G (p.Trp1705Gly)	rs2100476791
NM_004958.4(MTOR):c.5365-5A>G	rs17235626
NM_004958.4(MTOR):c.5519C>T (p.Thr1840Ile)	rs1643095704
NM_004958.4(MTOR):c.5704G>A (p.Asp1902Asn)	rs2100423408
NM_004958.4(MTOR):c.5947A>T (p.Thr1983Ser)
NM_004958.4(MTOR):c.6210dup (p.Asn2071Ter)	rs2100406692
NM_004958.4(MTOR):c.6962C>G (p.Thr2321Ser)	rs1642202172
NM_004958.4(MTOR):c.6997A>G (p.Ile2333Val)
NM_004958.4(MTOR):c.7105G>C (p.Glu2369Gln)	rs2522078580
NM_004958.4(MTOR):c.7154A>G (p.Asn2385Ser)	rs754231875
NM_004958.4(MTOR):c.7253T>C (p.Leu2418Pro)	rs2100315431
NM_004958.4(MTOR):c.729G>T (p.Lys243Asn)	rs1650031550
NM_004958.4(MTOR):c.7534G>C (p.Asp2512His)	rs2100280291
NM_004958.4(MTOR):c.920G>C (p.Gly307Ala)	rs1649073784

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