"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576545	NM_001083619.3(GRIA2):c.830G>A (p.Trp277Ter)	GRIA2 (W230* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 2500999	NM_001083619.3(GRIA2):c.1523A>T (p.Glu508Val)	GRIA2 (E461V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 2501000	NM_001083619.3(GRIA2):c.1760A>C (p.Glu587Ala)	GRIA2 (E540A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 2501001	NM_001083619.3(GRIA2):c.1859G>A (p.Arg620His)	GRIA2 (R573H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 2501002	NM_001083619.3(GRIA2):c.1940T>C (p.Val647Ala)	GRIA2 (V600A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GPathogenic
Select item 3359146	NM_001083619.3(GRIA2):c.518G>T (p.Trp173Leu)	GRIA2 (W126L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance