cdk5rap1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 18

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3912723	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr20: 30,288,202-45,731,170 , GRCh37.p13 chr20: 30,824,541-46,297,763 , GRCh38.p12 chr20: 32,236,738-47,669,019	CDK5RAP1, LOC107985448, 370 more genes
nsv6311078	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 31,189,994-34,287,210 , GRCh38.p12 chr20: 32,602,192-35,699,288	CDK5RAP1, EDEM2, 93 more genes
nsv3892750	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,961,294 , GRCh38.p12 chr20: 82,603-64,329,941	CDK5RAP1, TGIF2-RAB5IF, 1314 more genes
nsv3905072	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,948,788 , GRCh38.p12 chr20: 82,603-64,317,435	CDK5RAP1, LRRN4, 1313 more genes
nsv3895314	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr20: 61,569-62,915,555 , GRCh38.p12 chr20: 80,928-64,284,202	CDK5RAP1, PKIG, 1311 more genes
nsv3896520	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,912,463 , GRCh38.p12 chr20: 82,603-64,281,110	CDK5RAP1, COMMD7, 1311 more genes
nsv3920218	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118	CDK5RAP1, MIR3646, 1310 more genes
nsv3910142	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 9,792,081-37,945,599 , GRCh38 chr20: 9,811,433-39,316,956 , NCBI36 chr20: 9,740,081-37,379,013	CDK5RAP1, DYNLRB1, 555 more genes
nsv3918053	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr20: 25,703,100-38,491,480 , GRCh37.p13 chr20: 25,755,100-39,058,066 , GRCh38.p12 chr20: 25,774,464-40,429,426	CDK5RAP1, MYH7B, 300 more genes
nsv6313956	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 25,442,597-33,761,550 , GRCh38.p12 chr20: 25,461,961-35,173,747	CDK5RAP1, LOC105372586, 193 more genes
nsv4457806	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 29,833,608-35,087,952 , GRCh38.p12 chr20: 31,245,805-36,459,549	CDK5RAP1, EFCAB8, 162 more genes
nsv3920503	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr20: 32,062,768-35,906,606 , NCBI36 chr20: 30,114,232-33,957,942 , GRCh37 chr20: 30,650,571-34,494,528	CDK5RAP1, UQCC1, 111 more genes
nsv3917138	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr20: 31,254,983-33,473,080 , NCBI36 chr20: 29,306,447-31,524,547 , GRCh37 chr20: 29,842,786-32,060,886	CDK5RAP1, HAUS6P2, 78 more genes
nsv6291578	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr20: 18,665,879-33,903,216 , GRCh38.p12 chr20: 18,685,235-35,315,413	CDK5RAP1, AHCY, 330 more genes
nsv6637546	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr20: 29,652,122-35,603,726 , GRCh38.p12 chr20: 30,417,446-36,975,323	CDK5RAP1, AHCY, 195 more genes
nsv6637725	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr20: 29,833,535-34,815,537 , GRCh38.p12 chr20: 31,245,732-36,227,615	CDK5RAP1, AHCY, 160 more genes
nsv3910818	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr20: 25,616,026-62,435,964 , GRCh37.p13 chr20: 25,668,026-62,965,520 , GRCh38.p12 chr20: 25,687,390-64,334,167	CDK5RAP1, RNA5SP481, 855 more genes
nsv4676132	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr20: 31,966,407-33,169,058 , GRCh38.p12 chr20: 33,378,601-34,581,254	CDK5RAP1, MAP1LC3A, 28 more genes

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