prpsap2[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
nsv3900903	copy number variation	1	nstd102	human	Benign	GRCh37 chr17: 18,748,820-18,923,818 , GRCh38.p12 chr17: 18,845,507-19,020,505	PRPSAP2, FAM83G, 3 more genes
nsv3894208	copy number variation	1	nstd102	human	Benign	GRCh37 chr17: 18,752,653-18,925,454 , GRCh38.p12 chr17: 18,849,340-19,022,141	PRPSAP2, FAM83G, 3 more genes
nsv3911929	copy number variation	1	nstd102	human	Likely benign	GRCh38 chr17: 18,872,617-19,009,860 , NCBI36 chr17: 18,716,655-18,853,898 , GRCh37 chr17: 18,775,930-18,913,173	PRPSAP2, SLC5A10, 2 more genes
nsv3905373	copy number variation	1	nstd102	human	Benign	GRCh37 chr17: 18,811,846-18,924,345 , GRCh38.p12 chr17: 18,908,533-19,021,032	PRPSAP2, FAM83G, 3 more genes
nsv6637165	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 18,755,607-18,891,315 , GRCh38.p12 chr17: 18,852,294-18,988,002	PRPSAP2, SLC5A10, 2 more genes
nsv6291687	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 18,752,620-18,876,835 , GRCh38.p12 chr17: 18,849,307-18,973,522	PRPSAP2, LOC100419620, 2 more genes
nsv4729990	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 18,755,606-18,876,902 , GRCh38.p12 chr17: 18,852,293-18,973,589	PRPSAP2, FAM83G, 2 more genes
nsv3890462	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 17,200,426-21,900,910 , GRCh38.p12 chr17: 17,297,112-22,374,304	PRPSAP2, LOC100132977, 179 more genes
nsv3919368	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 15,704,477-20,556,000 , GRCh37.p13 chr17: 15,763,752-20,615,408 , GRCh38.p12 chr17: 15,860,438-20,712,095	PRPSAP2, CCDC144A, 196 more genes
nsv3910522	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 15,754,173-20,552,548 , GRCh38 chr17: 15,850,859-20,649,235 , NCBI36 chr17: 15,694,898-20,493,140	PRPSAP2, EEF1A1P43, 196 more genes
nsv3917007	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 15,573,932-20,354,156 , GRCh37 chr17: 15,633,207-20,413,564 , GRCh38 chr17: 15,729,893-20,510,251	PRPSAP2, LRRC75A, 193 more genes
nsv3922067	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 15,727,076-20,501,923 , GRCh38 chr17: 15,883,037-20,658,018 , GRCh37 chr17: 15,786,351-20,561,331	PRPSAP2, KRT16P4, 196 more genes
nsv3922810	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 15,883,037-20,620,700 , GRCh37 chr17: 15,786,351-20,524,013 , NCBI36 chr17: 15,727,076-20,464,605	PRPSAP2, SNORD49B, 194 more genes
nsv3923405	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 15,742,071-20,464,605 , GRCh38 chr17: 15,898,032-20,620,700 , GRCh37 chr17: 15,801,346-20,524,013	PRPSAP2, RPL21P121, 194 more genes
nsv3908020	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 15,745,315-20,261,191 , GRCh38.p12 chr17: 15,842,001-20,357,878	PRPSAP2, PEMT, 173 more genes
nsv3924307	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 16,522,249-20,404,912 , GRCh37.p13 chr17: 16,581,524-20,464,320 , GRCh38.p12 chr17: 16,678,210-20,561,007	PRPSAP2, TOM1L2, 161 more genes
nsv3915856	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 16,522,249-20,375,243 , GRCh37.p13 chr17: 16,581,524-20,434,651 , GRCh38.p12 chr17: 16,678,210-20,531,338	PRPSAP2, LOC105371567, 159 more genes
nsv3876858	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 16,770,855-20,585,863 , GRCh37.p13 chr17: 16,674,169-20,489,176	PRPSAP2, SLC47A1, 161 more genes
nsv3905330	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 16,660,721-20,417,975 , GRCh38.p12 chr17: 16,757,407-20,514,662	PRPSAP2, SHMT1, 153 more genes
nsv3897589	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 16,741,411-20,489,023 , GRCh38.p12 chr17: 16,838,097-20,585,710	PRPSAP2, GRAPL-AS1, 152 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 131

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Number of Variants: 20

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