ClinVar for MedGen (Select 336964) - ClinVar - NCBI

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

Links from MedGen

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500874	NM_181332.3(NLGN4X):c.626-1G>A	NLGN4X	Single nucleotide variant (splice acceptor variant)	Autism, susceptibility to, X-linked 2	GLikely pathogenic
Select item 2434376	NM_181332.3(NLGN4X):c.1614A>C (p.Gln538His)	NLGN4X (Q538H)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 2	GUncertain significance
Select item 2434374	NM_181332.3(NLGN4X):c.1309C>T (p.Arg437Trp)	NLGN4X (R437W)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 2	GUncertain significance
Select item 1330232	NM_181332.3(NLGN4X):c.2084C>T (p.Ala695Val)	NLGN4X (A695V)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 2	GUncertain significance
Select item 1299169	NM_181332.3(NLGN4X):c.187C>A (p.Pro63Thr)	NLGN4X (P63T)	Single nucleotide variant (missense variant)	Asperger syndrome, X-linked, susceptibility to, 2 +2 more	GUncertain significance
Select item 1184260	NM_181332.3(NLGN4X):c.2294G>A (p.Arg765His)	NLGN4X (R765H)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 2	GUncertain significance
Select item 1030724	NM_181332.3(NLGN4X):c.872A>G (p.Tyr291Cys)	NLGN4X (Y291C)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 2	GUncertain significance
Select item 976154	NM_181332.3(NLGN4X):c.2080G>A (p.Ala694Thr)	NLGN4X (A694T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 2	GUncertain significance
Select item 829851	NM_181332.3(NLGN4X):c.1661T>C (p.Phe554Ser)	NLGN4X (F554S)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 2	GUncertain significance
Select item 561066	NM_181332.3(NLGN4X):c.2428G>A (p.Gly810Arg)	NLGN4X (G810R)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 2	GUncertain significance
Select item 374392	NM_181332.3(NLGN4X):c.301C>T (p.Arg101Ter)	NLGN4X (R101*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 284715	NM_181332.3(NLGN4X):c.2259G>C (p.Arg753Ser)	NLGN4X (R753S)	Single nucleotide variant (missense variant)	Asperger syndrome, X-linked, susceptibility to, 2 +2 more	GUncertain significance
Select item 211681	NM_181332.3(NLGN4X):c.2360C>T (p.Thr787Met)	NLGN4X (T787M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 196500	NM_181332.3(NLGN4X):c.591C>T (p.Ile197=)	NLGN4X	Single nucleotide variant (synonymous variant)	NLGN4X-related condition +5 more	GBenign/Likely benign
Select item 95980	NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe)	NLGN4X (L593F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 11052	NC_000023.11:g.5250357_6007153del	NLGN4X	Deletion	Autism, susceptibility to, X-linked 2	Grisk factor
Select item 11051	NM_181332.3(NLGN4X):c.1254_1255del (p.Glu418fs)	NLGN4X (E418fs)	Microsatellite (frameshift variant)	Autism, susceptibility to, X-linked 2 +1 more	GPathogenic; risk factor
Select item 11050	NM_181332.3(NLGN4X):c.1185dup (p.Asp396Ter)	NLGN4X (D396*)	Duplication (nonsense)	Autism, susceptibility to, X-linked 2	Grisk factor