szrd1[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
nsv6290672	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570	SZRD1, RPL9P11, 466 more genes
nsv7098827	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749	SZRD1, LOC107985467, 386 more genes
nsv3900501	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 3,006,193-17,688,934 , GRCh37 chr1: 2,922,757-18,015,429 , NCBI36 chr1: 2,912,617-17,888,016	SZRD1, MFFP1, 364 more genes
nsv3900236	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 5,363,826-18,360,302 , GRCh37 chr1: 5,423,886-18,686,796 , NCBI36 chr1: 5,323,746-18,559,383	SZRD1, PDPN, 333 more genes
nsv6636785	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276	SZRD1, GPR157, 313 more genes
nsv3897535	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 9,017,317-16,640,547 , GRCh38 chr1: 9,034,671-16,441,465 , GRCh37 chr1: 9,094,730-16,767,960	SZRD1, RNU6-771P, 206 more genes
nsv3892730	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 10,681,833-16,847,204 , GRCh38 chr1: 10,621,776-16,520,709 , NCBI36 chr1: 10,604,420-16,719,791	SZRD1, DHRS3, 170 more genes
nsv3895493	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 10,791,683-16,621,582 , GRCh37 chr1: 10,869,096-16,748,995 , GRCh38 chr1: 10,809,039-16,422,500	SZRD1, PRAMEF36P, 163 more genes
nsv3899287	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 15,711,763-21,306,842 , NCBI36 chr1: 15,584,350-21,179,429 , GRCh38 chr1: 15,385,267-20,980,349	SZRD1, EMC1-AS1, 166 more genes
nsv4728309	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 16,041,431-21,295,864 , GRCh38.p12 chr1: 15,714,936-20,969,371	SZRD1, RNU1-6P, 150 more genes
nsv3898082	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 16,008,307-19,988,832 , NCBI36 chr1: 15,880,894-19,861,419 , GRCh38 chr1: 15,681,812-19,662,339	SZRD1, ESPNP, 114 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	SZRD1, MARK1, 4930 more genes
nsv3885206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793	SZRD1, SNAP47, 4927 more genes
nsv3884414	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485	SZRD1, RNU1-153P, 4887 more genes
nsv3909483	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 13,819,061-18,665,253 , GRCh38 chr1: 13,619,979-18,466,172 , GRCh37 chr1: 13,946,474-18,792,666	SZRD1, TMEM51, 117 more genes
nsv3899259	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr1: 15,251,130-16,698,955 , GRCh37 chr1: 15,378,543-16,826,368 , GRCh38 chr1: 15,052,047-16,499,873	SZRD1, CASP9, 51 more genes
nsv3923938	copy number variation	1	nstd102	human	Benign	NCBI36 chr1: 16,586,881-17,157,376 , GRCh37.p13 chr1: 16,714,294-17,284,789 , GRCh38.p12 chr1: 16,387,799-16,958,294	SZRD1, TRV-CAC11-1, 38 more genes
nsv4453267	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 16,096,742-16,725,355 , GRCh38.p12 chr1: 15,770,247-16,398,860	SZRD1, RPL12P14, 21 more genes
nsv4436181	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532	SZRD1, LINC01776, 1853 more genes
nsv4436680	complex substitution	1	nstd102	human	Uncertain significance	GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269	SZRD1, ALPL, 636 more genes

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Number of Variants: 20

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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 21

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Number of Variants: 20

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Supplemental Content

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