ClinVar for Gene (Select 11034) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
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 2427149	NC_000020.10:g.(?_17587682)_(18168103_?)del	BANF2, DSTN +6 more	Deletion	not provided	GPathogenic
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 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
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 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 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 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 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

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Links from Gene

Items: 27