srpk1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 10

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5200371	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 34,401,304-38,435,497 , GRCh38.p12 chr6: 34,433,527-38,467,721	SRPK1, RPS15AP19, 95 more genes
nsv3877040	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 60,107-171,054,786 , GRCh38.p12 chr6: 60,107-170,745,698	SRPK1, LOC105378061, 2914 more genes
nsv3879811	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 108,666-170,980,171 , GRCh38.p12 chr6: 108,666-170,671,083	SRPK1, RNU6-411P, 2910 more genes
nsv3887898	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr6: 156,975-170,919,482 , GRCh38.p12 chr6: 156,975-170,610,394	SRPK1, SOD1P1, 2905 more genes
nsv3889814	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 165,632-170,919,470 , GRCh38.p12 chr6: 165,632-170,610,382	SRPK1, ITPR3, 2905 more genes
nsv4350067	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 29,455,465-81,447,367 , GRCh38.p12 chr6: 29,487,688-80,737,650	SRPK1, HLA-DPB2, 1001 more genes
nsv3913920	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr6: 156,974-46,789,291 , NCBI36 chr6: 101,974-46,864,987 , GRCh37 chr6: 156,974-46,757,028	SRPK1, TRR-ACG1-2, 1385 more genes
nsv3886117	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr6: 34,683,518-36,905,281 , GRCh38.p12 chr6: 34,715,741-36,937,505	SRPK1, CDKN1A, 64 more genes
nsv7097426	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr6: 30,695,893-36,953,949 , GRCh38.p12 chr6: 30,728,116-36,986,173	SRPK1, LEMD2, 321 more genes
nsv7098787	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr6: 32,148,920-36,953,949 , GRCh38.p12 chr6: 32,181,143-36,986,173	SRPK1, CUTA, 184 more genes

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srpk1[All Fields] AND 1[has_clinical] (11)
dbVar
Mus musculus drosha, ribonuclease type III (Drosha), transcript variant 2, mRNA
Mus musculus drosha, ribonuclease type III (Drosha), transcript variant 2, mRNA
gi|194306544|ref|NM_026799.3|

Nucleotide

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