"NeuroMeGen, Hospital Clinico Santiago de Compostela"[submitter] AND " - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 444362	NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)	GRIN2A (T690M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 243097	NM_001134407.3(GRIN2A):c.1928C>A (p.Ala643Asp)	GRIN2A (A643D)	Single nucleotide variant (missense variant)	Dystonia, intellectual disability and language impairment	GLikely pathogenic