umodl1[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
nsv3923176	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 7,817,158-46,670,440 , NCBI36 chr21: 14,406,909-46,914,780 , GRCh37 chr21: 15,485,038-48,090,352	UMODL1, COL18A1-AS2, 682 more genes
nsv3905423	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,538,655-48,080,926 , GRCh38.p12 chr21: 14,166,334-46,661,014	UMODL1, MTND5P1, 581 more genes
nsv3913105	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 36,162,250-48,056,450 , GRCh38 chr21: 34,789,953-46,636,538 , NCBI36 chr21: 35,084,120-46,880,878	UMODL1, KRTAP10-12, 287 more genes
nsv3908171	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 37,914,123-48,097,372 , GRCh38.p12 chr21: 36,541,825-46,677,460	UMODL1, AIRE, 256 more genes
nsv3908653	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 38,699,545-48,097,372 , GRCh38.p12 chr21: 37,327,243-46,677,460	UMODL1, MIR6070, 239 more genes
nsv3918954	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 37,963,800-46,915,400 , GRCh38 chr21: 37,669,628-46,671,060 , GRCh37 chr21: 39,041,930-48,090,972	UMODL1, LCA5L, 236 more genes
nsv3891817	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 34,449,822-43,171,589 , GRCh37 chr21: 35,527,952-44,298,520 , GRCh38.p12 chr21: 34,155,652-42,878,410	UMODL1, LOC107985513, 168 more genes
nsv3923914	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 40,188,323-48,097,372 , NCBI36 chr21: 39,110,193-46,921,800 , GRCh38 chr21: 38,816,399-46,677,460	UMODL1, RNU6-1149P, 219 more genes
nsv3904283	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 41,254,101-48,097,372 , GRCh38.p12 chr21: 39,882,175-46,677,460	UMODL1, C2CD2, 188 more genes
nsv3914376	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 40,550,036-46,944,323 , GRCh37.p13 chr21: 41,628,166-48,119,895 , GRCh38.p12 chr21: 40,256,239-46,699,983	UMODL1, PRMT2, 187 more genes
nsv3911560	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 41,667,952-48,090,352 , NCBI36 chr21: 40,589,822-46,914,780 , GRCh38 chr21: 40,296,025-46,670,440	UMODL1, LOC102723380, 186 more genes
nsv3896855	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 42,335,622-48,097,372 , GRCh38.p12 chr21: 40,963,696-46,677,460	UMODL1, ZBTB21, 181 more genes
nsv4676372	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 39,410,438-45,171,756 , GRCh38.p12 chr21: 38,038,136-43,751,875	UMODL1, KCNJ15, 126 more genes
nsv3908049	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 42,410,406-48,097,372 , GRCh38.p12 chr21: 41,038,480-46,677,460	UMODL1, TRPM2, 181 more genes
nsv3910187	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 42,657,128-48,090,317 , GRCh38 chr21: 41,285,201-46,670,405 , NCBI36 chr21: 41,578,998-46,914,745	UMODL1, COL18A1, 177 more genes
nsv6315496	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 42,679,089-48,097,372 , GRCh38.p12 chr21: 41,307,162-46,677,460	UMODL1, TMEM97P1, 177 more genes
nsv4360463	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 41,537,095-46,914,745 , GRCh38.p12 chr21: 40,165,168-45,494,831	UMODL1, RRP1, 159 more genes
nsv3912629	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 37,429,908-42,727,694 , GRCh37 chr21: 38,508,038-43,854,625 , GRCh38 chr21: 37,135,738-42,434,515	UMODL1, LCA5L, 98 more genes
nsv3912745	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 42,026,869-46,915,400 , GRCh38 chr21: 41,733,640-46,671,060 , GRCh37 chr21: 43,153,800-48,090,972	UMODL1, KRTAP10-13P, 165 more genes
nsv3918955	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 39,375,937-44,246,148 , NCBI36 chr21: 39,669,733-44,490,459 , GRCh37 chr21: 40,747,863-45,666,031	UMODL1, LINC01678, 114 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 68

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 68

Page of 4

Number of Variants: 20

Page of 4

Supplemental Content

Find related data

Search details

Recent activity