kcnj6[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6638081	insertion	1	nstd102	human	Uncertain significance	GRCh38 chr21: 37,632,245-37,632,245 , GRCh37 chr21: 39,004,547-39,004,547	KCNJ6
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	KCNJ6, 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	KCNJ6, MTND5P1, 581 more genes
nsv3917693	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 7,749,532-37,653,653 , GRCh37 chr21: 15,451,032-39,025,955 , NCBI36 chr21: 14,372,903-37,947,825	KCNJ6, DPRXP5, 448 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	KCNJ6, 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	KCNJ6, 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	KCNJ6, 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	KCNJ6, 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	KCNJ6, LOC107985513, 168 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	KCNJ6, LCA5L, 98 more genes
nsv3903243	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 38,790,552-43,619,940 , GRCh38.p12 chr21: 37,418,250-42,199,830	KCNJ6, RIPK4, 84 more genes
nsv3924469	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 36,916,169-41,365,265 , NCBI36 chr21: 35,838,039-40,287,135 , GRCh38 chr21: 35,543,872-39,993,338	KCNJ6, LOC105372802, 96 more genes
nsv3893160	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 38,176,362-41,901,945 , GRCh38.p12 chr21: 36,804,061-40,530,018	KCNJ6, ETS2-AS1, 67 more genes
nsv1398000	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 37,839,410-41,427,526 , GRCh38.p12 chr21: 36,467,112-40,055,599	KCNJ6, MYL6P2, 70 more genes
nsv3911039	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 36,066,345-38,852,303 , GRCh38 chr21: 35,772,177-38,558,509 , GRCh37 chr21: 37,144,475-39,930,433	KCNJ6, CLDN14-AS1, 58 more genes
nsv1398033	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 38,007,970-39,747,620 , GRCh38.p12 chr21: 36,635,672-38,375,698	KCNJ6, LOC100288590, 30 more genes
nsv4768385	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 37,662,974-39,236,719 , GRCh37.p13 chr21: 38,741,104-40,314,849 , GRCh38.p12 chr21: 37,368,802-38,942,925	KCNJ6, DYRK1A, 22 more genes
nsv4768387	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 37,662,974-39,195,976 , GRCh37.p13 chr21: 38,741,104-40,274,106 , GRCh38.p12 chr21: 37,368,802-38,902,182	KCNJ6, SNRPGP13, 22 more genes
nsv1398119	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 38,741,104-40,274,106 , GRCh38.p12 chr21: 37,368,802-38,902,182	KCNJ6, LOC105372797, 22 more genes
nsv3910364	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 37,408,770-38,645,794 , NCBI36 chr21: 37,702,942-38,939,588 , GRCh37 chr21: 38,781,072-40,017,718	KCNJ6, LOC105372798, 16 more genes

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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 61

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Number of Variants: 20

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