cln8[All Fields] AND 1[has_clinical] - dbVar

loading data ...

Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3907898	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 1,718,834-1,729,007 , GRCh38.p12 chr8\|NT_187680.1: 183,326-193,499 , GRCh38.p12 chr8: 1,770,668-1,780,841	CLN8
nsv3884161	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	GRCh38 chr8: 1,771,035-1,780,587 , GRCh37 chr8: 1,719,201-1,728,753	CLN8
nsv4451024	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 1,719,211-1,728,743 , GRCh38 chr8: 1,771,045-1,780,577	CLN8
nsv7098169	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr8: 1,719,221-1,728,733 , GRCh38.p12 chr8\|NT_187680.1: 183,713-193,225 , GRCh38.p12 chr8: 1,771,055-1,780,567	CLN8
nsv6312712	copy number variation	2	nstd102	human	Uncertain significance, Pathogenic	GRCh37 chr8: 1,719,221-1,905,429 , GRCh38.p12 chr8: 1,771,055-1,957,263 , GRCh38.p12 chr8\|NT_187576.1: 1-140,639	CLN8, ARHGEF10, 4 more genes
nsv3923000	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 1,674,840-1,826,985 , GRCh37 chr8: 1,687,433-1,839,578 , GRCh38 chr8: 1,739,267-1,891,412	CLN8, ARHGEF10, 5 more genes
nsv6315449	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-30,187,456 , GRCh38.p12 chr8: 208,048-30,329,940	CLN8, LOC101928016, 568 more genes
nsv7148253	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 449,893-23,854,904 , GRCh37.p13 chr8: 399,893-23,712,417	CLN8, ENTPD4, 447 more genes
nsv6636968	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,049-18,936,715 , GRCh38.p12 chr8: 208,049-19,079,205	CLN8, ZNF705B, 357 more genes
nsv4455719	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-14,214,722 , GRCh38.p12 chr8: 208,048-14,357,213	CLN8, MIR598, 312 more genes
nsv4685988	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 161,516-11,516,619 , GRCh38.p12 chr8: 211,516-11,659,110	CLN8, ZNF705B, 232 more genes
nsv7148131	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 10,501-11,142,629 , GRCh38.p12 chr8: 60,501-11,285,120	CLN8, XKR6, 224 more genes
nsv6634376	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-11,281,408 , GRCh38.p12 chr8: 208,048-11,423,899	CLN8, DLGAP2-AS1, 228 more genes
nsv6636940	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,049-10,965,627 , GRCh38.p12 chr8\|NW_018654717.1: 1-5,513,617 , GRCh38.p12 chr8: 208,049-11,108,117	CLN8, HSPD1P3, 270 more genes
nsv3902717	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-10,939,681 , GRCh38.p12 chr8: 208,048-11,082,171 , GRCh38.p12 chr8\|NW_018654717.1: 1-5,513,617	CLN8, LOC101929128, 270 more genes
nsv3921576	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 191,530-10,724,642 , GRCh38 chr8: 241,530-10,867,132 , NCBI36 chr8: 181,530-10,762,052	CLN8, SPAG11B, 213 more genes
nsv3900231	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 10,213-10,197,718 , GRCh38.p12 chr8\|NW_018654717.1: 1-5,513,617 , GRCh38.p12 chr8: 60,213-10,340,208	CLN8, LOC105377793, 273 more genes
nsv3911012	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 191,530-10,315,994 , GRCh38 chr8: 241,530-10,458,484 , NCBI36 chr8: 181,530-10,353,404	CLN8, DEFB4A, 197 more genes
nsv3912676	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 241,530-10,191,595 , NCBI36 chr8: 181,530-10,086,515 , GRCh37 chr8: 191,530-10,049,105	CLN8, FAM90A23, 196 more genes
nsv3900485	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 164,984-10,007,227 , GRCh38.p12 chr8: 214,984-10,149,717	CLN8, RNA5SP251, 197 more genes

dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Send to:

Search results

Items: 1 to 20 of 149

Number of Variants: 20

Send to:

Supplemental Content

Find related data

Search details

Recent activity

dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 149

Page of 8

Number of Variants: 20

Page of 8

Supplemental Content

Find related data

Search details

Recent activity