"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701052	NM_007327.4(GRIN1):c.398T>G (p.Ile133Ser)	GRIN1 (I133S)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 235846	NM_007327.4(GRIN1):c.1670C>G (p.Pro557Arg)	GRIN1 (P557R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic
Select item 981278	NM_007327.4(GRIN1):c.1744C>A (p.Arg582Ser)	GRIN1 (R582S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 981271	NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)	GRIN1 (G618R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 981272	NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr)	GRIN1 (S688Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 981280	NM_007327.4(GRIN1):c.2329del (p.Leu777fs)	GRIN1 (L777fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance
Select item 981279	NM_007327.4(GRIN1):c.2444-2A>G	GRIN1	Single nucleotide variant (splice acceptor variant)	Intellectual disability	GUncertain significance
Select item 521354	NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)	GRIN1 (R844C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8 +4 more	GPathogenic/Likely pathogenic