ClinVar for MedGen (Select 899689) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068336	NM_004958.4(MTOR):c.5704G>A (p.Asp1902Asn)	MTOR (D1486N +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2689468	NM_004958.4(MTOR):c.2110G>A (p.Val704Met)	MTOR (V288M +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2672214	NM_004958.4(MTOR):c.7154A>G (p.Asn2385Ser)	MTOR (N1969S +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2576991	NM_004958.4(MTOR):c.5113T>G (p.Trp1705Gly)	MTOR (W1289G +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2444379	NM_004958.4(MTOR):c.3945-26_4016dup	MTOR	Duplication (splice acceptor variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GLikely pathogenic
Select item 2444216	NM_004958.4(MTOR):c.7105G>C (p.Glu2369Gln)	MTOR (E1953Q +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2433828	NM_004958.4(MTOR):c.3074G>C (p.Ser1025Thr)	MTOR (S1025T +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2433827	NM_004958.4(MTOR):c.1559T>C (p.Val520Ala)	MTOR (V104A +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2433826	NM_004958.4(MTOR):c.2083G>T (p.Ala695Ser)	MTOR (A279S +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2433825	NM_004958.4(MTOR):c.2295C>A (p.Pro765=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 2433824	NM_004958.4(MTOR):c.729G>T (p.Lys243Asn)	MTOR (K243N)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 1809681	NM_004958.4(MTOR):c.2751_2752del (p.Ser918fs)	MTOR (S502fs +1 more)	Deletion (frameshift variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 1806203	NM_004958.4(MTOR):c.1256A>G (p.His419Arg)	MTOR (H3R +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GLikely benign
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 1805931	NM_004958.4(MTOR):c.1951G>C (p.Val651Leu)	MTOR (V235L +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 1805437	NM_004958.4(MTOR):c.7253T>C (p.Leu2418Pro)	MTOR (L2002P +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 1805389	NM_004958.4(MTOR):c.1060T>A (p.Ser354Thr)	MTOR (S354T)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 1803194	NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp)	MTOR (R360W)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1802550	NM_004958.4(MTOR):c.7096A>G (p.Met2366Val)	MTOR (M1950V +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 1711183	NM_004958.4(MTOR):c.3961G>A (p.Ala1321Thr)	MTOR (A1321T +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 1687169	NM_004958.4(MTOR):c.4883G>A (p.Arg1628His)	MTOR (R1212H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1599387	NM_004958.4(MTOR):c.6810+12G>A	MTOR	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II +2 more	GBenign/Likely benign
Select item 1484219	NM_004958.4(MTOR):c.4570+5A>G	MTOR	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 1448067	NM_004958.4(MTOR):c.6962C>G (p.Thr2321Ser)	MTOR (T1905S +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1391138	NM_004958.4(MTOR):c.920G>C (p.Gly307Ala)	MTOR (G307A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1341918	NM_004958.4(MTOR):c.4360C>T (p.His1454Tyr)	MTOR (H1038Y +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 1339561	NM_004958.4(MTOR):c.257del (p.Gly86fs)	MTOR (G86fs)	Deletion (frameshift variant +1 more)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GPathogenic
Select item 1339560	NM_004958.4(MTOR):c.6457A>G (p.Ile2153Val)	MTOR (I1737V +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GLikely pathogenic
Select item 1333927	NM_004958.4(MTOR):c.422C>T (p.Thr141Ile)	MTOR (T141I)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 1325857	NM_004958.4(MTOR):c.7529G>T (p.Gly2510Val)	MTOR (G2094V +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1320130	NM_004958.4(MTOR):c.5912C>T (p.Ala1971Val)	MTOR (A1555V +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GLikely pathogenic
Select item 1315329	NM_004958.4(MTOR):c.2581T>C (p.Tyr861His)	MTOR (Y445H +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1299622	NM_004958.4(MTOR):c.2959G>A (p.Val987Met)	MTOR (V571M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1299590	NM_004958.4(MTOR):c.394C>T (p.Arg132Cys)	MTOR (R132C)	Single nucleotide variant (5 prime UTR variant +1 more)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GUncertain significance
Select item 1270259	NM_004958.4(MTOR):c.6034-30A>G	MTOR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1213781	NM_004958.4(MTOR):c.6210dup (p.Asn2071Ter)	MTOR (N1655* +1 more)	Duplication (nonsense)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 1213694	NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg)	MTOR (C190R +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GLikely pathogenic
Select item 1170840	NM_004958.4(MTOR):c.2997C>T (p.Asn999=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GBenign
Select item 1065618	NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln)	MTOR (R1660Q +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GLikely pathogenic
Select item 1063287	NM_004958.4(MTOR):c.2331+6A>G	MTOR	Single nucleotide variant (intron variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GBenign/Likely benign
Select item 1054057	NM_004958.4(MTOR):c.6169A>G (p.Met2057Val)	MTOR (M1641V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1047242	NM_004958.4(MTOR):c.2045G>A (p.Arg682His)	MTOR (R266H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1031480	NM_004958.4(MTOR):c.1438G>T (p.Ala480Ser)	MTOR (A64S +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 1028831	NM_004958.4(MTOR):c.2579A>T (p.Lys860Met)	MTOR (K444M +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GUncertain significance
Select item 1028830	NM_004958.4(MTOR):c.1244A>G (p.Asp415Gly)	MTOR (D415G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 972961	NM_004958.4(MTOR):c.7391G>T (p.Gly2464Val)	MTOR (G2464V)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	Gnot provided
Select item 948857	NM_004958.4(MTOR):c.4555G>A (p.Ala1519Thr)	MTOR (A1519T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 946584	NM_004958.4(MTOR):c.1081T>A (p.Cys361Ser)	MTOR (C361S)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GBenign/Likely benign
Select item 931361	NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del)	MTOR	Deletion (inframe_deletion)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GConflicting classifications of pathogenicity
Select item 918028	NM_004958.4(MTOR):c.6674dup (p.Tyr2225Ter)	MTOR (Y2225*)	Duplication (nonsense)	Isolated focal cortical dysplasia type II +1 more	Gnot provided
Select item 862510	NM_004958.4(MTOR):c.6871G>A (p.Val2291Ile)	MTOR (V2291I)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GConflicting classifications of pathogenicity
Select item 853299	NM_004958.4(MTOR):c.5060A>G (p.His1687Arg)	MTOR (H1687R)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GConflicting classifications of pathogenicity
Select item 851388	NM_004958.4(MTOR):c.4597A>G (p.Thr1533Ala)	MTOR, MTOR-AS1 (T1533A)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GUncertain significance
Select item 699072	NM_004958.4(MTOR):c.348C>T (p.Pro116=)	MTOR	Single nucleotide variant (synonymous variant)	Isolated focal cortical dysplasia type II +2 more	GBenign/Likely benign
Select item 660037	NM_004958.4(MTOR):c.5890A>G (p.Ile1964Val)	MTOR (I1964V)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GConflicting classifications of pathogenicity
Select item 656447	NM_004958.4(MTOR):c.5431C>T (p.Arg1811Cys)	MTOR (R1811C)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GConflicting classifications of pathogenicity
Select item 652978	NM_004958.4(MTOR):c.112G>A (p.Ala38Thr)	MTOR (A38T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 626213	NM_004958.4(MTOR):c.7216G>A (p.Val2406Met)	MTOR (V2406M)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GPathogenic
Select item 587518	NM_004958.4(MTOR):c.743C>T (p.Thr248Ile)	MTOR (T248I)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GConflicting classifications of pathogenicity
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 516654	NM_004958.4(MTOR):c.4731G>A (p.Ala1577=)	MTOR, MTOR-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 516653	NM_004958.4(MTOR):c.1437T>C (p.Asp479=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GBenign
Select item 516652	NM_004958.4(MTOR):c.6909G>A (p.Leu2303=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GBenign
Select item 414895	NM_004958.4(MTOR):c.6624T>C (p.Leu2208=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GBenign
Select item 414894	NM_004958.4(MTOR):c.2649+9C>T	MTOR	Single nucleotide variant (intron variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GBenign/Likely benign
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 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 391355	NM_004958.4(MTOR):c.5911G>A (p.Ala1971Thr)	MTOR (A1971T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 391346	NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro)	MTOR (L2431P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 380311	NM_004958.4(MTOR):c.5553C>T (p.Ser1851=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GBenign
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 376453	NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)	MTOR (C1483Y)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 268210	NM_004958.4(MTOR):c.4606A>G (p.Ile1536Val)	MTOR, MTOR-AS1 (I1536V)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GUncertain significance
Select item 242349	NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile)	MTOR (M2327I)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GPathogenic
Select item 224150	NM_004958.4(MTOR):c.505-2A>G	MTOR	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 224088	NM_004958.4(MTOR):c.4785G>A (p.Met1595Ile)	MTOR, MTOR-AS1 (M1595I)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GPathogenic
Select item 224083	NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)	MTOR (F1888C)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more	GPathogenic/Likely pathogenic
Select item 217823	NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)	MTOR (E1799K)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 190121	NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)	MTOR (C1483F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 156709	NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)	MTOR (E2419K)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more	GPathogenic
Select item 156702	NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys)	MTOR (T1977K)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database

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Items: 81