C5394044[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981176	NM_004958.4(MTOR):c.7501A>T (p.Ile2501Phe)	MTOR (I2501F)	Single nucleotide variant (missense variant)	CEBALID syndrome	GPathogenic
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 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 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 981175	NM_004958.4(MTOR):c.6050T>C (p.Ile2017Thr)	MTOR (I2017T)	Single nucleotide variant (missense variant)	CEBALID syndrome	GLikely pathogenic
Select item 584432	NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)	MTOR (T1977I)	Single nucleotide variant (missense variant)	CEBALID syndrome +3 more	GPathogenic
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 981174	NM_004958.4(MTOR):c.4556C>T (p.Ala1519Val)	MTOR (A1519V)	Single nucleotide variant (missense variant)	CEBALID syndrome	GLikely pathogenic
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 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 981173	NM_004958.4(MTOR):c.4356A>T (p.Lys1452Asn)	MTOR (K1452N)	Single nucleotide variant (missense variant)	CEBALID syndrome	GLikely pathogenic
Select item 2443358	NM_002430.3(MN1):c.3794del (p.Pro1265fs)	MN1 (P1265fs)	Deletion (frameshift variant)	CEBALID syndrome	GPathogenic