"GeneDx"[submitter] AND "DNASE1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 58621	GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3	ADCY9, C16orf90 +29 more	Copy number gain	See cases	GPathogenic
Select item 488976	NM_016292.3(TRAP1):c.2107C>T (p.Arg703Ter)	DNASE1, TRAP1 (R703* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 418524	NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn)	DNASE1, TRAP1 (D685N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1259645	NM_016292.3(TRAP1):c.2014-52del	DNASE1, TRAP1	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1295671	NM_016292.3(TRAP1):c.2013+227C>T	DNASE1, TRAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225170	NM_016292.3(TRAP1):c.2013+103GTTT[5]	DNASE1, TRAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1308266	NM_016292.3(TRAP1):c.1484G>A (p.Arg495His)	TRAP1, DNASE1 (R442H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 253729	GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3	C16orf90, CLUAP1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 253470	GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3	BICDL2, C16orf90 +36 more	Copy number gain	See cases	GPathogenic