smpd1[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
nsv7093696	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 6,404,342-6,413,015 , GRCh38.p12 chr11: 6,383,112-6,391,785	SMPD1
nsv3917933	insertion	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 6,413,072-6,413,072 , GRCh38 chr11: 6,391,842-6,391,842	SMPD1
nsv3893233	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 70,864-134,938,470 , GRCh38.p12 chr11: 70,864-135,068,576	SMPD1, LOC105376598, 2842 more genes
nsv3900144	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 198,510-134,934,063 , GRCh38.p12 chr11: 198,510-135,064,169	SMPD1, RTN3, 2833 more genes
nsv3908873	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576	SMPD1, IGHMBP2, 2829 more genes
nsv3898926	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 230,615-37,698,540 , GRCh38.p12 chr11: 230,615-37,676,990	SMPD1, OR51L1, 771 more genes
nsv4674879	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 235,934-33,826,995 , GRCh38.p12 chr11: 235,934-33,805,449	SMPD1, BGLT3, 723 more genes
nsv3906221	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 230,615-31,995,219 , GRCh38.p12 chr11: 230,615-31,973,673	SMPD1, PCNAP4, 688 more genes
nsv6315535	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 230,615-26,881,146 , GRCh38.p12 chr11: 230,615-26,859,599	SMPD1, OR52Q1P, 630 more genes
nsv3894525	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 230,615-25,584,362 , GRCh38.p12 chr11: 230,615-25,562,816	SMPD1, SDHCP4, 620 more genes
nsv3912558	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 446,754-18,926,289 , GRCh38 chr11: 446,754-18,904,742 , NCBI36 chr11: 436,754-18,882,865	SMPD1, TRIM22, 546 more genes
nsv3898948	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 230,615-17,099,213 , GRCh38.p12 chr11: 230,615-17,077,666	SMPD1, MTND5P21, 506 more genes
nsv4350476	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 193,146-12,643,136 , GRCh38.p12 chr11: 193,146-12,621,589	SMPD1, KRTAP5-3, 457 more genes
nsv3919565	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 61,793-10,727,969 , GRCh37 chr11: 61,793-10,749,516 , NCBI36 chr11: 51,793-10,706,092	SMPD1, OR51A7, 437 more genes
nsv3892294	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 230,615-9,704,511 , GRCh38.p12 chr11: 230,615-9,682,964	SMPD1, MRPS24P1, 405 more genes
nsv4768373	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 210,300-8,664,358 , GRCh38.p12 chr11: 210,300-8,642,811	SMPD1, LOC107984302, 375 more genes
nsv6637864	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 230,616-8,250,724 , GRCh38.p12 chr11: 230,616-8,229,177	SMPD1, PNPLA2, 372 more genes
nsv3915725	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr11: 6,239,388-6,615,806 , GRCh38 chr11: 6,261,582-6,637,999 , GRCh37 chr11: 6,282,812-6,659,230	SMPD1, TRIM3, 14 more genes
nsv4681173	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr11: 5,709,028-6,640,651 , GRCh38.p12 chr11: 5,687,798-6,619,420	SMPD1, OR56B2P, 50 more genes
nsv3912381	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr11: 5,571,015-6,424,808 , GRCh37 chr11: 5,614,439-6,468,232 , GRCh38 chr11: 5,593,209-6,447,002	SMPD1, OR52E6, 46 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 22

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Number of Variants: 20

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