ClinVar for MedGen (Select 335205) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376319	NM_181303.2(NLGN3):c.2342A>G (p.His781Arg)	NLGN3 (H644R +3 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 1	GUncertain significance
Select item 3359009	NM_181303.2(NLGN3):c.1685C>T (p.Thr562Ile)	NLGN3 (T425I +3 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 1	GUncertain significance
Select item 2442803	NM_181303.2(NLGN3):c.163C>T (p.Arg55Ter)	NLGN3 (R55*)	Single nucleotide variant (nonsense +1 more)	Autism, susceptibility to, X-linked 1	GUncertain significance
Select item 1806399	NM_181303.2(NLGN3):c.2222T>G (p.Leu741Arg)	NLGN3 (L604R +3 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 1	GLikely pathogenic
Select item 1710287	NM_181303.2(NLGN3):c.611T>C (p.Val204Ala)	NLGN3 (V164A +3 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 1	GPathogenic
Select item 1706452	NM_181303.2(NLGN3):c.1384G>A (p.Ala462Thr)	NLGN3 (A325T +3 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 1	GUncertain significance
Select item 1327915	NM_181303.2(NLGN3):c.1672A>G (p.Met558Val)	NLGN3 (M421V +3 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 1	GLikely pathogenic
Select item 1326919	NM_181303.2(NLGN3):c.913+1G>A	NLGN3	Single nucleotide variant (splice donor variant)	Autism, susceptibility to, X-linked 1	GLikely pathogenic
Select item 1098690	NM_181303.2(NLGN3):c.806G>A (p.Ser269Asn)	NLGN3 (S132N +3 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 1	GUncertain significance
Select item 1028130	NM_181303.2(NLGN3):c.707A>G (p.Asn236Ser)	NLGN3 (N216S +3 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 1	GUncertain significance
Select item 931307	NM_181303.2(NLGN3):c.913+11C>G	NLGN3	Single nucleotide variant (intron variant)	Autism, susceptibility to, X-linked 1	GBenign
Select item 11327	NM_181303.2(NLGN3):c.1411C>T (p.Arg471Cys)	NLGN3 (R451C +3 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 1	Grisk factor