ClinVar for MedGen (Select 140910) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048544	NM_000314.8(PTEN):c.1110_1111dup (p.Asp371fs)	PTEN (D174fs +2 more)	Duplication (frameshift variant)	Hemimegalencephaly	GPathogenic
Select item 1048543	NM_000314.8(PTEN):c.255_262delinsC (p.Ala86fs)	PTEN (A259fs +1 more)	Indel (frameshift variant +1 more)	Hemimegalencephaly	GPathogenic
Select item 631553	NM_001010.3(RPS6):c.695G>A (p.Arg232His)	RPS6 (R232H)	Single nucleotide variant (missense variant)	Hemimegalencephaly	GUncertain significance
Select item 599005	NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs)	LOC102724058, SCN1A (S1110fs +5 more)	Duplication (non-coding transcript variant +1 more)	Polymicrogyria +11 more	GPathogenic
Select item 545666	NM_005614.4(RHEB):c.119A>T (p.Glu40Val)	RHEB (E40V)	Single nucleotide variant (missense variant)	Hemimegalencephaly	GLikely pathogenic
Select item 523497	NM_007327.4(GRIN1):c.1198-19G>C	GRIN1	Single nucleotide variant (intron variant)	Hemimegalencephaly	GUncertain significance
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
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 374062	NM_006218.4(PIK3CA):c.1059+12T>A	PIK3CA	Single nucleotide variant (intron variant)	Facial asymmetry +3 more	GConflicting classifications of pathogenicity