"GeneDx"[submitter] AND "TNFRSF4"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58038	GRCh38/hg38 1p36.33(chr1:832679-1254039)x3	AGRN, B3GALT6 +75 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 151328	GRCh38/hg38 1p36.33(chr1:1143156-1223303)x1	LOC129929100, MIR200A +15 more	Copy number loss	See cases	GBenign
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 1243792	NM_003327.4(TNFRSF4):c.635-31T>G	TNFRSF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168340	NM_003327.4(TNFRSF4):c.634+25C>T	TNFRSF4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 403556	NM_003327.4(TNFRSF4):c.534G>A (p.Glu178=)	TNFRSF4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to OX40 deficiency +2 more	GBenign
Select item 1286469	NM_003327.4(TNFRSF4):c.437+248C>T	TNFRSF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253626	GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	ACAP3, ACTRT2 +64 more	Copy number loss	See cases	GPathogenic
Select item 253595	GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic