Related gene-specific medical variations for Gene (Select 57502) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382643	NM_181332.3(NLGN4X):c.980T>A (p.Ile327Asn)	NLGN4X (I327N)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 2	GUncertain significance
Select item 3362421	NM_181332.3(NLGN4X):c.811+15C>T	NLGN4X	Single nucleotide variant (intron variant)	Autism, susceptibility to, X-linked 2	GUncertain significance
Select item 3361767	NM_181332.3(NLGN4X):c.1180G>A (p.Asp394Asn)	NLGN4X (D394N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360334	NM_181332.3(NLGN4X):c.1864C>G (p.Pro622Ala)	NLGN4X (P622A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360258	NM_181332.3(NLGN4X):c.1475A>T (p.Glu492Val)	NLGN4X (E492V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062584	GRCh37/hg19 Xp22.32-22.31(chrX:5872585-6127713)	NLGN4X	Copy number loss	not specified	GPathogenic
Select item 3062546	GRCh37/hg19 Xp22.32(chrX:5746197-5814098)	NLGN4X	Copy number loss	not specified	GLikely pathogenic
Select item 2685729	GRCh37/hg19 Xp22.32-22.31(chrX:5824482-6143494)x2	NLGN4X	Copy number gain	not provided	GUncertain significance
Select item 2685067	GRCh37/hg19 Xp22.32-22.31(chrX:5863869-6257929)x4	NLGN4X	Copy number gain	not provided	GUncertain significance
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 1676413	NM_020742.4(NLGN4X):c.2192C>T (p.Ser731Phe)	NLGN4X (S731F)	Single nucleotide variant	not provided	GUncertain significance
Select item 1340665	GRCh37/hg19 Xp22.32-22.31(chrX:5896807-6448502)x3	NLGN4X	Copy number gain	not provided	GUncertain significance
Select item 1340653	GRCh37/hg19 Xp22.32-22.31(chrX:5388160-6062224)x3	NLGN4X	Copy number gain	not provided	GUncertain significance
Select item 1339845	GRCh37/hg19 Xp22.32-22.31(chrX:5966333-6121580)x3	NLGN4X	Copy number gain	not provided	Gnot provided
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 1319249	NM_181332.3(NLGN4X):c.1316C>T (p.Thr439Ile)	NLGN4X (T439I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 980844	GRCh37/hg19 Xp22.32-22.31(chrX:5546876-6000282)x3	NLGN4X	Copy number gain	not provided	GUncertain significance
Select item 816290	GRCh37/hg19 Xp22.32(chrX:5912902-5994585)x1	NLGN4X	Copy number loss	not provided	GLikely pathogenic
Select item 816289	GRCh37/hg19 Xp22.32-22.31(chrX:5871585-6074724)x0	NLGN4X	Copy number loss	not provided	GLikely pathogenic
Select item 689242	GRCh37/hg19 Xp22.31(chrX:6075186-6122573)x3	NLGN4X	Copy number gain	not provided	GUncertain significance
Select item 685345	GRCh37/hg19 Xp22.32-22.31(chrX:5463480-6035312)x2	NLGN4X	Copy number gain	not provided	GUncertain significance
Select item 564749	GRCh37/hg19 Xp22.32-22.31(chrX:5677732-6225609)x3	NLGN4X	Copy number gain	not provided	GUncertain significance
Select item 500025	NM_181332.3(NLGN4X):c.-306+359G>A	LOC105373156, NLGN4X	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 442283	GRCh37/hg19 Xp22.31(chrX:6092708-6140177)x1	NLGN4X	Copy number loss	See cases	GUncertain significance
Select item 219041	GRCh37/hg19 Xp22.31(chrX:6118522-6405679)x3	NLGN4X	Copy number gain	See cases	GUncertain significance
Select item 152258	GRCh38/hg38 Xp22.32-22.31(chrX:5982467-6100650)x0	NLGN4X	Copy number loss	See cases	GPathogenic
Select item 151809	GRCh38/hg38 Xp22.31(chrX:6100591-6104650)x1	NLGN4X	Copy number loss	See cases	GBenign
Select item 148410	GRCh38/hg38 Xp22.32(chrX:5885166-5914976)x0	NLGN4X	Copy number loss	See cases	GPathogenic
Select item 11052	NC_000023.11:g.5250357_6007153del	NLGN4X	Deletion	Autism, susceptibility to, X-linked 2 +1 more	GPathogenic; risk factor

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Links from Gene

Items: 30