"GeneDx"[submitter] AND "NXN"[gene] - ClinVar

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Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 60096	GRCh38/hg38 17p13.3(chr17:279611-848014)x3	GEMIN4, GLOD4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 1274216	NM_022463.5(NXN):c.*172T>C	NXN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1259938	NM_022463.5(NXN):c.*147A>C	NXN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1266203	NM_022463.5(NXN):c.1126-109G>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236498	NM_022463.5(NXN):c.1126-129C>A	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179586	NM_022463.5(NXN):c.1125+60C>G	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768809	NM_022463.5(NXN):c.1114G>A (p.Val372Ile)	NXN (V264I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1266735	NM_022463.5(NXN):c.1001-16C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280021	NM_022463.5(NXN):c.1001-106C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267982	NM_022463.5(NXN):c.1001-128G>C	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266173	NM_022463.5(NXN):c.1000+85C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229232	NM_022463.5(NXN):c.1000+44C>G	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233495	NM_022463.5(NXN):c.963G>A (p.Ala321=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1228565	NM_022463.5(NXN):c.821-44A>G	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181590	NM_022463.5(NXN):c.821-81C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280571	NM_022463.5(NXN):c.820+201C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276029	NM_022463.5(NXN):c.820+60C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182523	NM_022463.5(NXN):c.820+42C>G	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693052	NM_022463.5(NXN):c.784C>T (p.Arg262Trp)	NXN (R154W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287611	NM_022463.5(NXN):c.714-249T>C	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249948	NM_022463.5(NXN):c.713+241A>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227773	NM_022463.5(NXN):c.713+164G>A	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238119	NM_022463.5(NXN):c.713+119G>A	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 488056	NM_022463.5(NXN):c.625C>T (p.Arg209Ter)	NXN (R209* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 1233466	NM_022463.5(NXN):c.613-30C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252964	NM_022463.5(NXN):c.613-172T>C	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232663	NM_022463.5(NXN):c.479-127G>A	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275087	NM_022463.5(NXN):c.479-165G>A	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226901	NM_022463.5(NXN):c.479-167A>G	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246163	NM_022463.5(NXN):c.479-189C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180197	NM_022463.5(NXN):c.478+4A>G	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151512	GRCh38/hg38 17p13.3(chr17:847955-984405)x3	LOC101927727, LOC121587569 +3 more	Copy number gain	See cases	GBenign
Select item 59559	GRCh38/hg38 17p13.3(chr17:855404-1345517)x1	ABR, ABR-AS1 +19 more	Copy number loss	See cases	GPathogenic
Select item 1264968	NM_022463.5(NXN):c.361-38077C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229220	NM_022463.5(NXN):c.361-38078C>G	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151499	GRCh38/hg38 17p13.3(chr17:954820-1009440)x3	ABR, LOC121587569 +2 more	Copy number gain	See cases	GLikely benign
Select item 1282341	NM_022463.5(NXN):c.240C>T (p.Pro80=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1241621	NM_022463.5(NXN):c.-75A>G	NXN	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1259507	NC_000017.11:g.979973C>G	NXN	Single nucleotide variant	not provided	GBenign
Select item 253888	GRCh37/hg19 17p13.3(chr17:290384-1172699)x1	ABR, GEMIN4 +7 more	Copy number loss	See cases	GUncertain significance
Select item 253806	GRCh37/hg19 17p13.3(chr17:48858-902021)x1	GEMIN4, GLOD4 +8 more	Copy number loss	See cases	GUncertain significance

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Items: 43