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

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Number of Variants: 12

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3891669	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 43,013,365-47,241,534 , GRCh38.p12 chr19: 42,509,213-46,738,277	SYMPK, MIR320E, 189 more genes
nsv3916206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 46,099,131-47,103,283 , NCBI36 chr19: 50,790,971-51,795,123 , GRCh38 chr19: 45,595,873-46,600,026	SYMPK, PNMA8B, 47 more genes
nsv3904885	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923	SYMPK, ZNF321P, 2443 more genes
nsv3903203	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793	SYMPK, BABAM1, 2426 more genes
nsv3903092	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521	SYMPK, LENG8, 2408 more genes
nsv4457372	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 28,271,106-49,213,832 , GRCh38.p12 chr19: 27,780,198-48,710,575	SYMPK, ZNF461, 735 more genes
nsv4676357	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 44,738,088-53,621,561 , GRCh38.p12 chr19: 44,233,935-53,118,308	SYMPK, MIR4324, 485 more genes
nsv3924836	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 50,166,517-53,452,471 , GRCh37 chr19: 45,474,677-48,760,659 , GRCh38 chr19: 44,971,420-48,257,402	SYMPK, IGFL1P1, 145 more genes
nsv3921787	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr19: 50,582,487-52,026,097 , GRCh37 chr19: 45,890,647-47,334,257 , GRCh38 chr19: 45,387,389-46,831,000	SYMPK, CALM3, 71 more genes
nsv4676350	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 45,531,056-48,174,177 , GRCh38.p12 chr19: 45,027,798-47,670,920	SYMPK, NKPD1, 112 more genes
nsv3893926	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 46,192,402-46,603,824 , GRCh38.p12 chr19: 45,689,144-46,100,566	SYMPK, CCDC61, 19 more genes
nsv3905567	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 46,361,535-46,573,564 , GRCh38.p12 chr19: 45,858,277-46,070,306	SYMPK, NANOS2, 9 more genes

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sympk[All Fields] AND 1[has_clinical] (13)
dbVar
SORD sorbitol dehydrogenase [Homo sapiens]
SORD sorbitol dehydrogenase [Homo sapiens]
Gene ID:6652

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