tbc1d23[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 11

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7148201	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 93,979,547-124,774,010 , GRCh37.p13 chr3: 93,698,391-124,492,857	TBC1D23, NECTIN3, 418 more genes
nsv3918661	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 95,088,205-124,418,220 , GRCh37 chr3: 93,605,515-122,935,530 , GRCh38 chr3: 93,886,671-123,216,683	TBC1D23, MTCO2P29, 401 more genes
nsv3917160	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 95,021,157-118,088,593 , GRCh38 chr3: 93,819,623-116,887,056 , GRCh37 chr3: 93,538,467-116,605,903	TBC1D23, ATP6V1A, 297 more genes
nsv3910775	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 97,514,213-115,382,196 , GRCh38 chr3: 97,795,369-115,663,349 , NCBI36 chr3: 98,996,903-116,864,886	TBC1D23, ZBTB11-AS1, 258 more genes
nsv3885606	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156	TBC1D23, RNU4-62P, 2880 more genes
nsv3889228	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115	TBC1D23, NDUFB4, 2876 more genes
nsv3880617	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391	TBC1D23, RPL23AP49, 2875 more genes
nsv3922717	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 95,002,154-146,895,858 , GRCh38 chr3: 93,800,620-145,695,381 , GRCh37 chr3: 93,519,464-145,413,168	TBC1D23, OR7E53P, 794 more genes
nsv4728581	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr3: 95,563,096-102,371,126 , GRCh38.p12 chr3: 95,844,252-102,652,282	TBC1D23, COL8A1, 107 more genes
nsv3911724	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr3: 95,021,157-105,090,283 , GRCh37 chr3: 93,538,467-103,607,593 , GRCh38 chr3: 93,819,623-103,888,749	TBC1D23, COL8A1, 132 more genes
nsv3916416	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 99,478,229-100,124,625 , GRCh38 chr3: 99,759,385-100,405,781 , NCBI36 chr3: 100,960,919-101,607,315	TBC1D23, TMEM30CP, 13 more genes

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tbc1d23[All Fields] AND 1[has_clinical] (12)
dbVar
Kp144
Kp144

biosample
Myocardial infarction
Myocardial infarction

MedGen
C0027051[conceptid] (1)
MedGen

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