rpn2[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	DAZAP2P1, RPL36AP16, 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	LOC105373947, RN7SL764P, 357 more genes
nsv3912723	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr20: 30,288,202-45,731,170 , GRCh37.p13 chr20: 30,824,541-46,297,763 , GRCh38.p12 chr20: 32,236,738-47,669,019	RPN2, LOC107985448, 370 more genes
nsv3910049	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr20: 33,289,165-45,693,969 , GRCh37 chr20: 33,825,749-46,260,562 , GRCh38 chr20: 35,237,946-47,631,818	RPN2, NDUFB4P10, 291 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	B3GNT7, SPATA3, 193 more genes
nsv3881953	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 223,378,640-232,061,074 , GRCh38.p12 chr2: 222,513,921-231,196,360	LOC105373925, LOC105373902, 112 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	SP110, LOC107985994, 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	RNU7-9P, SCARNA5, 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	LOC112268439, RNA5SP116, 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	IGKV2OR2-10, LOC105374848, 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	RNU6-674P, KANSL3, 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	MTND2P22, LOC112268410, 3724 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	LOC105376755, FZD7, 1013 more genes
nsv3892750	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,961,294 , GRCh38.p12 chr20: 82,603-64,329,941	RPN2, TGIF2-RAB5IF, 1314 more genes
nsv3905072	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,948,788 , GRCh38.p12 chr20: 82,603-64,317,435	RPN2, LRRN4, 1313 more genes
nsv3895314	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr20: 61,569-62,915,555 , GRCh38.p12 chr20: 80,928-64,284,202	RPN2, PKIG, 1311 more genes
nsv3896520	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,912,463 , GRCh38.p12 chr20: 82,603-64,281,110	RPN2, COMMD7, 1311 more genes
nsv3920218	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118	RPN2, MIR3646, 1310 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	LOC105373909, CLK1, 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	RNU6-1206P, MIR3131, 883 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 42

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Number of Variants: 20

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