C5394502[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064416	NM_001083619.3(GRIA2):c.140G>A (p.Gly47Glu)	GRIA2 (G47E)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 929839	NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly)	GRIA2 (D302G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 1012507	NM_001083619.3(GRIA2):c.967C>T (p.Arg323Ter)	GRIA2 (R276* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with language impairment and behavioral abnormalities +1 more	GLikely pathogenic
Select item 929840	NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr)	GRIA2 (P528T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 1064413	NM_001083619.3(GRIA2):c.1819C>G (p.Gln607Glu)	GRIA2 (Q560E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 929838	NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg)	GRIA2 (G609R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 440956	NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn)	GRIA2 (D611N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GConflicting classifications of pathogenicity
Select item 801356	NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser)	GRIA2 (A592S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1064415	NM_001083619.3(GRIA2):c.1932C>A (p.Phe644Leu)	GRIA2 (F597L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 1064414	NM_001083619.3(GRIA2):c.1937C>A (p.Thr646Asn)	GRIA2 (T599N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 929842	NM_001083619.3(GRIA2):c.1939G>C (p.Val647Leu)	GRIA2 (V647L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GPathogenic
Select item 1064411	NM_001083619.3(GRIA2):c.2363G>T (p.Trp788Leu)	GRIA2 (W741L +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 1064412	NM_001083619.3(GRIA2):c.2375G>T (p.Gly792Val)	GRIA2 (G745V +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 1064418	NM_001083619.3(GRIA2):c.2420C>T (p.Ala807Val)	GRIA2 (A760V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 1064417	NM_001083619.3(GRIA2):c.2435A>G (p.Asn812Ser)	GRIA2 (N765S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic