ptma[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
nsv3910630	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331	PTMA, DAZAP2P1, 2991 more genes
nsv6313668	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062	PTMA, LOC105373947, 357 more genes
nsv3893827	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 227,551,089-237,459,981 , GRCh38 chr2: 226,978,129-236,886,599 , GRCh37 chr2: 227,842,845-237,795,242	PTMA, B3GNT7, 193 more genes
nsv3906029	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 227,916,238-235,912,551 , GRCh38 chr2: 227,343,278-235,339,168 , GRCh37 chr2: 228,207,994-236,247,812	PTMA, SP110, 167 more genes
nsv6313683	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 228,807,574-235,475,892 , GRCh38.p12 chr2: 227,942,858-234,567,248	PTMA, RNU7-9P, 143 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	PTMA, LOC112268439, 3737 more genes
nsv3874648	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305	PTMA, IGKV2OR2-10, 3737 more genes
nsv3885544	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609	PTMA, RNU6-674P, 3735 more genes
nsv3882615	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232	PTMA, MTND2P22, 3724 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	RNA5SP369, ST13P22, 2454 more genes
nsv3905447	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316	LOH12CR2, OR8S21P, 2452 more genes
nsv3897722	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059	RNU4ATAC16P, PIGAP1, 2452 more genes
nsv3914194	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807	BTG1P1, LOC105370073, 2451 more genes
nsv3904719	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532	OR5BT1P, RECQL, 2441 more genes
nsv4728725	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306	PTMA, LOC105376755, 1013 more genes
nsv3890898	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 188,818,195-242,065,208 , NCBI36 chr2: 189,391,166-242,656,032 , GRCh37 chr2: 189,682,921-243,007,359	PTMA, LOC105373909, 901 more genes
nsv3896499	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 190,300,875-242,783,384 , NCBI36 chr2: 190,009,120-242,432,057 , GRCh38 chr2: 189,436,149-241,841,232	PTMA, RNU6-1206P, 883 more genes
nsv3908112	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 190,310,736-241,892,770 , NCBI36 chr2: 190,883,707-242,483,594 , GRCh37 chr2: 191,175,462-242,834,921	PTMA, LOC101928084, 871 more genes
nsv3892046	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 195,763,507-237,382,556 , NCBI36 chr2: 195,471,752-237,047,295 , GRCh38 chr2: 194,898,783-236,473,913	PTMA, NPM1P46, 706 more genes
nsv3914427	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 18,636-36,150,744 , GRCh37.p13 chr12: 148,375-37,864,477 , GRCh38.p12 chr12: 43,334-37,470,675	LOC105369667, ELOCP31, 684 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 69

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Number of Variants: 20

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