ClinVar (all) for Orgtrack (Select 508252) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1296997	NM_004958.4(MTOR):c.5005G>T (p.Ala1669Ser)	MTOR (A1253S +1 more)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely pathogenic FDA Recognized database
Select item 1296996	NM_004958.4(MTOR):c.1249A>G (p.Met417Val)	MTOR (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 1296995	NM_004958.4(MTOR):c.3004C>T (p.Arg1002Ter)	MTOR (R1002* +1 more)	Single nucleotide variant (nonsense)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 1296994	NM_004958.4(MTOR):c.4375G>T (p.Ala1459Ser)	MTOR (A1043S +1 more)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 1296993	NM_004958.4(MTOR):c.4468T>C (p.Trp1490Arg)	MTOR (W1074R +1 more)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely pathogenic FDA Recognized database
Select item 1296992	NM_006218.4(PIK3CA):c.93A>G (p.Ile31Met)	PIK3CA (I31M)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 1296991	NM_004958.4(MTOR):c.997C>T (p.Leu333=)	MTOR	Single nucleotide variant (synonymous variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 1296990	NM_006218.4(PIK3CA):c.1631C>A (p.Thr544Asn)	PIK3CA (T544N)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 1296989	NM_004958.4(MTOR):c.5930C>G (p.Thr1977Arg)	MTOR (T1561R +1 more)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 1296988	NM_005465.7(AKT3):c.1082A>G (p.Glu361Gly)	AKT3 (E361G)	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 1296987	NM_005027.4(PIK3R2):c.320C>T (p.Pro107Leu)	PIK3R2 (P107L)	Single nucleotide variant (missense variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 1296986	NM_004958.4(MTOR):c.706-18C>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 1296985	NM_004958.4(MTOR):c.6440A>C (p.Asn2147Thr)	MTOR (N1731T +1 more)	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 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 1276811	NM_004958.4(MTOR):c.3117+34G>A	MTOR	Single nucleotide variant (intron variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GBenign FDA Recognized database
Select item 995382	NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)	PIK3CA (E110del)	Microsatellite (inframe_deletion)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely pathogenic FDA Recognized database
Select item 858694	NM_004958.4(MTOR):c.6752G>A (p.Arg2251Gln)	MTOR (R2251Q)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 833713	NM_004958.4(MTOR):c.5978A>G (p.Lys1993Arg)	MTOR (K1993R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 779809	NM_005027.4(PIK3R2):c.1629G>A (p.Glu543=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 772362	NM_005465.7(AKT3):c.504G>A (p.Lys168=)	AKT3	Single nucleotide variant (synonymous variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 767212	NM_005027.4(PIK3R2):c.322+7A>G	PIK3R2	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 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 664963	NM_004958.4(MTOR):c.5432G>T (p.Arg1811Leu)	MTOR (R1811L)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 659938	NM_004958.4(MTOR):c.4382T>C (p.Val1461Ala)	MTOR (V1461A)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 645465	NM_004958.4(MTOR):c.3646A>G (p.Ile1216Val)	MTOR (I1216V)	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 468317	NM_005027.4(PIK3R2):c.160G>A (p.Val54Met)	PIK3R2 (V54M)	Single nucleotide variant (missense variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GBenign FDA Recognized database
Select item 456537	NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg)	PIK3CA (K733R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GBenign FDA Recognized database
Select item 456534	NM_006218.4(PIK3CA):c.2040T>C (p.Val680=)	PIK3CA	Single nucleotide variant (synonymous variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 417723	NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)	MTOR (L2427P)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 412646	NM_006218.4(PIK3CA):c.2015+9A>G	PIK3CA	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 376476	NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)	PIK3CA (E726K)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
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 376130	NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)	MTOR (L1460P)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 376129	NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)	MTOR (S2215Y)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 374796	NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)	MTOR (C1483R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 156703	NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)	MTOR (S2215F)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
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
Select item 135038	NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met)	PIK3CA (I391M)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GBenign FDA Recognized database
Select item 39816	NM_005465.7(AKT3):c.49G>A (p.Glu17Lys)	AKT3 (E17K)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 39808	NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	PIK3R2 (G373R)	Single nucleotide variant (missense variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 39703	NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	PIK3CA (G914R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 31944	NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	PIK3CA (E542K)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 13652	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	PIK3CA (H1047R)	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: 43