Related gene-specific medical variations for Gene (Select 2475) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3538561	NM_021146.4(ANGPTL7):c.278C>T (p.Ser93Leu)	ANGPTL7, MTOR (S93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3538550	NM_021146.4(ANGPTL7):c.935A>G (p.Glu312Gly)	ANGPTL7, MTOR (E312G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3538540	NM_021146.4(ANGPTL7):c.208C>G (p.Gln70Glu)	ANGPTL7, MTOR (Q70E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3538530	NM_021146.4(ANGPTL7):c.528A>T (p.Arg176Ser)	ANGPTL7, MTOR (R176S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3538520	NM_021146.4(ANGPTL7):c.1018C>T (p.Arg340Cys)	ANGPTL7, MTOR (R340C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3538510	NM_021146.4(ANGPTL7):c.831C>A (p.Asp277Glu)	ANGPTL7, LOC129388452 +1 more (D277E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3538501	NM_021146.4(ANGPTL7):c.454T>C (p.Phe152Leu)	ANGPTL7, MTOR (F152L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3538492	NM_021146.4(ANGPTL7):c.4C>G (p.Leu2Val)	ANGPTL7, MTOR (L2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3538482	NM_021146.4(ANGPTL7):c.222G>C (p.Trp74Cys)	ANGPTL7, MTOR (W74C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3387867	NM_021146.4(ANGPTL7):c.377-3T>C	MTOR, ANGPTL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3362489	NM_004958.4(MTOR):c.4872G>C (p.Gln1624His)	MTOR, MTOR-AS1 (Q1208H +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3362154	NM_004958.4(MTOR):c.4289C>T (p.Ala1430Val)	MTOR (A1014V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362097	NM_004958.4(MTOR):c.1483C>T (p.Pro495Ser)	MTOR (P495S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361672	NM_004958.4(MTOR):c.6910T>C (p.Trp2304Arg)	MTOR (W1888R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361502	NM_004958.4(MTOR):c.4424A>T (p.Glu1475Val)	MTOR (E1059V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361409	NM_004958.4(MTOR):c.5110_5111del (p.Met1704fs)	MTOR (M1288fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3361080	NM_004958.4(MTOR):c.7017-1G>A	MTOR	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3360608	NM_004958.4(MTOR):c.4402G>T (p.Asp1468Tyr)	MTOR (D1052Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360431	NM_004958.4(MTOR):c.6017_6025del (p.Val2006_Gln2008del)	MTOR	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3360297	NM_004958.4(MTOR):c.1455C>G (p.Cys485Trp)	MTOR (C485W +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 3251558	NM_004958.4(MTOR):c.4732A>G (p.Met1578Val)	MTOR, MTOR-AS1 (M1162V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247968	NC_000001.10:g.(?_11288882)_(11289875_?)del	MTOR	Deletion	not provided	GLikely benign
Select item 3247966	NC_000001.10:g.(?_11307662)_(11319466_?)del	MTOR	Deletion	not provided	GUncertain significance
Select item 3238636	NM_004958.4(MTOR):c.784C>T (p.His262Tyr)	MTOR (H262Y)	Single nucleotide variant (missense variant +1 more)	Overgrowth syndrome	GUncertain significance
Select item 3237443	NM_004958.4(MTOR):c.3462G>T (p.Arg1154=)	MTOR	Single nucleotide variant (synonymous variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	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 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 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 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 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 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 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 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 3067954	NM_004958.4(MTOR):c.1519C>G (p.Pro507Ala)	MTOR (P507A +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3065102	NM_004958.4(MTOR):c.7165G>T (p.Val2389Phe)	MTOR (V1973F +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3065018	NM_004958.4(MTOR):c.5989A>G (p.Asn1997Asp)	MTOR (N1581D +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GUncertain significance
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 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 3024678	NM_021146.4(ANGPTL7):c.658C>T (p.Arg220Cys)	ANGPTL7, MTOR (R220C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3020825	NM_004958.4(MTOR):c.4596C>T (p.Tyr1532=)	MTOR, MTOR-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019657	NM_004958.4(MTOR):c.4571-3T>C	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3015137	NM_004958.4(MTOR):c.4668C>A (p.Leu1556=)	MTOR, MTOR-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917787	NM_004958.4(MTOR):c.4687-17G>T	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903441	NM_004958.4(MTOR):c.4824C>T (p.Val1608=)	MTOR, MTOR-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892332	NM_004958.4(MTOR):c.4599C>T (p.Thr1533=)	MTOR, MTOR-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854455	NM_004958.4(MTOR):c.4571-14GT[4]	MTOR, MTOR-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2849516	NM_004958.4(MTOR):c.4571-20_4571-17del	MTOR, MTOR-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2844150	NM_004958.4(MTOR):c.4764+17C>G	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842317	NM_004958.4(MTOR):c.4601G>A (p.Cys1534Tyr)	MTOR-AS1, MTOR (C1534Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815540	NM_004958.4(MTOR):c.4771_4785del (p.Val1591_Met1595del)	MTOR, MTOR-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2782501	NM_004958.4(MTOR):c.4791C>G (p.Ser1597=)	MTOR, MTOR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2769029	NM_004958.4(MTOR):c.4730C>G (p.Ala1577Gly)	MTOR, MTOR-AS1 (A1577G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730485	NM_004958.4(MTOR):c.4765-16G>T	MTOR, MTOR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2710248	NM_004958.4(MTOR):c.4740A>T (p.Gly1580=)	MTOR, MTOR-AS1	Single nucleotide variant (synonymous variant)	not provided	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 2672094	NM_004958.4(MTOR):c.4376C>A (p.Ala1459Asp)	MTOR (A1043D +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GPathogenic
Select item 2638225	NM_021146.4(ANGPTL7):c.930G>A (p.Leu310=)	ANGPTL7, MTOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638224	NM_021146.4(ANGPTL7):c.419G>A (p.Arg140His)	ANGPTL7, MTOR (R140H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 2176871	NM_004958.4(MTOR):c.4690A>G (p.Ile1564Val)	MTOR, MTOR-AS1 (I1564V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2112287	NM_004958.4(MTOR):c.4834C>T (p.Arg1612Ter)	MTOR, MTOR-AS1 (R1612* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2096575	NM_004958.4(MTOR):c.4707C>T (p.Asp1569=)	MTOR, MTOR-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063164	NM_004958.4(MTOR):c.4765-16G>A	MTOR, MTOR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2060164	NM_004958.4(MTOR):c.4686+20C>G	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052655	NM_004958.4(MTOR):c.4730C>T (p.Ala1577Val)	MTOR, MTOR-AS1 (A1577V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036193	NM_004958.4(MTOR):c.4850A>G (p.Gln1617Arg)	MTOR, MTOR-AS1 (Q1617R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2033179	NM_004958.4(MTOR):c.4571-4A>G	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032193	NM_004958.4(MTOR):c.4686+4A>G	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2023765	NM_004958.4(MTOR):c.4686+5A>C	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2009536	NM_004958.4(MTOR):c.4765-5A>T	MTOR, MTOR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1998848	NM_004958.4(MTOR):c.4842C>T (p.Ile1614=)	MTOR, MTOR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1719417	NM_004958.4(MTOR):c.4792G>C (p.Glu1598Gln)	MTOR, MTOR-AS1 (E1182Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1701093	NM_021146.4(ANGPTL7):c.525G>T (p.Gln175His)	ANGPTL7, MTOR (Q175H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1678315	NM_004958.4(MTOR):c.4726A>T (p.Thr1576Ser)	MTOR-AS1, MTOR (T1160S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676555	NM_004958.4(MTOR):c.7121del (p.Lys2374fs)	MTOR (K1958fs +1 more)	Deletion	not provided	GUncertain significance
Select item 1674072	NM_004958.4(MTOR):c.4872+19C>T	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659381	NM_004958.4(MTOR):c.4686+12C>A	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643600	NM_004958.4(MTOR):c.4872+20C>T	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632766	NM_004958.4(MTOR):c.4791C>T (p.Ser1597=)	MTOR, MTOR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1632317	NM_004958.4(MTOR):c.4571-16A>G	MTOR, MTOR-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

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