C5568766[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 489345	NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter)	SCN2A (Q1531*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 545912	NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs)	SCN2A (G1576fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 548699	NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu)	SCN2A (V1601L)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic
Select item 282579	NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)	SCN2A (R1918C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1810329	NM_001148.6(ANK2):c.10756+1G>T	ANK2	Single nucleotide variant (splice donor variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 537000	NM_006772.3(SYNGAP1):c.3583-9G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5 +1 more	GPathogenic
Select item 489393	NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His)	GRIN2B (R696H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +4 more	GPathogenic/Likely pathogenic
Select item 218395	NM_001271.4(CHD2):c.4173dup (p.Gln1392fs)	CHD2 (Q1392fs)	Duplication (frameshift variant)	Autistic behavior +3 more	GPathogenic
Select item 972975	NM_172107.4(KCNQ2):c.683A>G (p.His228Arg)	KCNQ2 (H228R)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder +1 more	Gnot provided
Select item 441126	NM_001347721.2(DYRK1A):c.1373dup (p.Ile459fs)	DYRK1A (I430fs +2 more)	Duplication (frameshift variant)	Complex neurodevelopmental disorder	GPathogenic