b4galnt2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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

Search results

Items: 18

loading data ...

Number of Variants: 18

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4457612	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 47,207,656-47,228,423 , GRCh38.p12 chr17: 49,130,294-49,151,061	B4GALNT2, RPS10P25
nsv3899857	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 47,210,308-47,283,986 , GRCh38.p12 chr17: 49,132,946-49,206,624	B4GALNT2, RPS10P25, 2 more genes
nsv3911811	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577	B4GALNT2, PRPSAP1, 1350 more genes
nsv3912763	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 44,570,225-47,580,169 , GRCh37 chr17: 47,215,226-50,225,170 , GRCh38 chr17: 49,137,864-52,147,810	B4GALNT2, CACNA1G, 77 more genes
nsv3911757	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 43,419,251-44,761,758 , GRCh37 chr17: 46,064,252-47,406,759 , GRCh38 chr17: 47,986,886-49,329,397	B4GALNT2, LINC02086, 59 more genes
nsv3913486	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 48,520,885-49,511,208 , NCBI36 chr17: 43,953,246-44,943,569 , GRCh37 chr17: 46,598,247-47,588,570	B4GALNT2, MIR6165, 54 more genes
nsv3903684	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004	B4GALNT2, MIR3185, 2366 more genes
nsv3899740	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564	B4GALNT2, P4HB, 2366 more genes
nsv3906245	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251	B4GALNT2, MIR21, 2366 more genes
nsv3907261	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062	B4GALNT2, SMURF2, 2366 more genes
nsv3914783	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577	B4GALNT2, LOC105371922, 1855 more genes
nsv3909511	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846	B4GALNT2, FOXK2, 958 more genes
nsv3913552	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225	B4GALNT2, RNU6-131P, 1075 more genes
nsv3911563	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214	B4GALNT2, PLEKHH3, 958 more genes
nsv3890215	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 46,481,089-51,396,368 , GRCh38.p12 chr17: 48,403,727-53,319,007	B4GALNT2, ATP5MC1, 124 more genes
nsv3920056	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr17: 43,882,989-44,985,282 , GRCh38 chr17: 48,450,628-49,552,921 , GRCh37 chr17: 46,527,990-47,630,283	B4GALNT2, ZNF652-AS1, 55 more genes
nsv6637543	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 46,753,824-47,577,721 , GRCh38.p12 chr17: 48,676,462-49,500,359	B4GALNT2, CALCOCO2, 37 more genes
nsv4457643	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 46,899,690-47,540,874 , GRCh38.p12 chr17: 48,822,328-49,463,512	B4GALNT2, FLJ40194, 24 more genes

Supplemental Content

Filters: Manage Filters

Find related data

Search details

Recent activity

Clear Turn Off Turn On

b4galnt2[All Fields] AND 1[has_clinical] (19)
dbVar
Pulverulent cataract
Pulverulent cataract

MedGen
C1833118[conceptid] (1)
MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

You are here: NCBI > Variation > Database of Genomic Structural Variation (dbVar)