DSTN[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 3273933	NM_006870.4(DSTN):c.152A>G (p.Glu51Gly)	DSTN (E51G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273934	NM_006870.4(DSTN):c.153A>C (p.Glu51Asp)	DSTN (E51D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518302	NM_006870.4(DSTN):c.259G>A (p.Ala87Thr)	DSTN (A70T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235769	NM_006870.4(DSTN):c.300G>A (p.Met100Ile)	DSTN (M83I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273932	NM_006870.4(DSTN):c.365A>G (p.Asp122Gly)	DSTN (D105G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086034	NM_006870.4(DSTN):c.443T>C (p.Ile148Thr)	DSTN (I131T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 2427149	NC_000020.10:g.(?_17587682)_(18168103_?)del	BANF2, DSTN +6 more	Deletion	not provided	GPathogenic
Select item 1808835	GRCh37/hg19 20p12.1(chr20:17458552-17587385)x1	BFSP1, DSTN +1 more	Copy number loss	not provided	GUncertain significance
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	SEC23B, SPTLC3 +28 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27