npc1l1[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
nsv3919826	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 54,185-159,075,079 , GRCh38 chr7: 54,185-159,282,390 , NCBI36 chr7: 149,268-158,767,840	NPC1L1, RNU6-438P, 2682 more genes
nsv3888815	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 12,258,147-140,494,267 , GRCh38.p12 chr7: 12,218,521-140,794,467	NPC1L1, LOC107986817, 2014 more genes
nsv3924054	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 40,573,756-56,174,815 , NCBI36 chr7: 40,540,281-56,142,309 , GRCh38 chr7: 40,534,157-56,107,122	NPC1L1, VOPP1-DT, 229 more genes
nsv3897424	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 32,911,003-44,576,005 , GRCh38.p12 chr7: 32,871,391-44,536,406	NPC1L1, LOC107986734, 192 more genes
nsv3916442	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr7: 37,309,607-48,670,880 , GRCh37 chr7: 37,343,082-48,700,334 , GRCh38 chr7: 37,303,478-48,660,738	NPC1L1, LOC102724903, 204 more genes
nsv3911166	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 40,060,197-50,611,198 , NCBI36 chr7: 40,026,722-50,578,692 , GRCh38 chr7: 40,020,598-50,543,500	NPC1L1, SUGCT, 155 more genes
nsv6313509	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 40,778,439-50,228,656 , GRCh38.p12 chr7: 40,738,840-50,189,060	NPC1L1, LINC01447, 142 more genes
nsv3924742	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 38,217,601-45,343,699 , GRCh38 chr7: 38,177,999-45,304,100 , NCBI36 chr7: 38,184,126-45,310,224	NPC1L1, NUDCD3, 152 more genes
nsv5381787	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 43,341,583-50,171,623 , GRCh38.p12 chr7: 43,301,984-50,132,027	NPC1L1, OGDH, 110 more genes
nsv5381783	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 41,124,364-47,945,566 , GRCh38.p12 chr7: 41,084,766-47,905,969	NPC1L1, ELK1P1, 121 more genes
nsv3896166	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 40,350,383-47,034,422 , GRCh38.p12 chr7: 40,310,784-46,994,824	NPC1L1, LOC112267984, 118 more genes
nsv3918948	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 39,103,000-45,402,695 , GRCh38 chr7: 39,063,400-45,363,096 , NCBI36 chr7: 39,069,525-45,369,220	NPC1L1, MRPS23P1, 120 more genes
nsv3915283	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 39,853,758-45,789,334 , GRCh38 chr7: 39,814,159-45,749,735 , NCBI36 chr7: 39,820,283-45,755,859	NPC1L1, TUBG1P, 108 more genes
nsv3920348	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 44,232,968-46,597,979 , GRCh38 chr7: 44,193,369-46,558,381 , NCBI36 chr7: 44,199,493-46,564,504	NPC1L1, CCM2, 50 more genes
nsv3894780	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 10,704-159,122,532 , GRCh38.p12 chr7: 10,704-159,329,842	NPC1L1, RNU6-565P, 2684 more genes
nsv4455091	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 10,365-159,119,707 , GRCh38.p12 chr7: 10,365-159,327,017	NPC1L1, RPL23AP51, 2684 more genes
nsv3909087	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 44,935-159,126,310 , GRCh38.p12 chr7: 44,935-159,333,620	NPC1L1, MNX1-AS2, 2682 more genes
nsv3908592	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr7: 43,361-159,119,707 , GRCh38.p12 chr7: 43,361-159,327,017	NPC1L1, TRGV3, 2682 more genes
nsv3899194	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 11,048,840-52,863,626 , GRCh38.p12 chr7: 11,009,213-52,795,933	NPC1L1, BRWD1P3, 590 more genes
nsv3917263	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr7: 33,328,312-62,377,476 , GRCh37 chr7: 33,367,924-61,831,899 , NCBI36 chr7: 33,334,449-61,469,334	NPC1L1, MIR4649, 444 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 27

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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