mmadhc[All Fields] AND 1[has_clinical] - dbVar

loading data ...

Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6311220	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 150,438,631-150,438,795 , GRCh38.p12 chr2: 149,582,117-149,582,281	MMADHC
nsv4578393	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 150,438,641-150,438,785 , GRCh38.p12 chr2: 149,582,127-149,582,271	MMADHC
nsv4681498	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 150,426,468-150,443,631 , GRCh38.p12 chr2: 149,569,954-149,587,117	MMADHC, MMADHC-DT
nsv4683046	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 150,426,478-150,443,621 , GRCh38.p12 chr2: 149,569,964-149,587,107	MMADHC, MMADHC-DT
nsv3873404	copy number variation	1	nstd102	human	Benign	GRCh37 chr2: 150,619,995-150,673,889 , GRCh38.p12 chr2: 149,763,481-149,817,375	LINC01931, MMADHC-DT
nsv4674678	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr2: 150,366,040-150,696,735 , GRCh38.p12 chr2: 149,509,526-149,840,221	MMADHC, MMADHC-DT, 3 more genes
nsv4673981	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 150,322,682-150,616,331 , GRCh38.p12 chr2: 149,466,168-149,759,817	MMADHC, RNU6-601P, 3 more genes
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	MMADHC, DAZAP2P1, 2991 more genes
nsv3898306	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 148,917,286-163,204,623 , GRCh37 chr2: 149,674,855-164,061,133 , NCBI36 chr2: 149,391,325-163,769,379	MMADHC, RPS3AP13, 170 more genes
nsv4674226	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 147,173,792-158,346,266 , GRCh38.p12 chr2: 146,416,224-157,489,754	MMADHC, RBM43, 120 more genes
nsv3902718	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 147,251,948-157,856,378 , NCBI36 chr2: 147,725,986-158,421,136 , GRCh37 chr2: 148,009,516-158,712,890	MMADHC, RNU6-1275P, 117 more genes
nsv6313481	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 143,258,712-152,867,819 , GRCh38.p12 chr2: 142,501,143-152,011,305	MMADHC, STIP1P1, 98 more genes
nsv3903939	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 148,347,892-154,353,187 , NCBI36 chr2: 148,064,362-154,061,433 , GRCh38 chr2: 147,590,324-153,496,674	MMADHC, MIR4773-2, 68 more genes
nsv3878148	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 146,913,477-151,531,586 , GRCh38.p12 chr2: 146,155,909-150,675,072	MMADHC, LINC01911, 48 more genes
nsv3901591	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 145,471,053-149,582,570 , NCBI36 chr2: 145,945,091-150,147,330 , GRCh37 chr2: 146,228,621-150,439,084	MMADHC, TXNP5, 41 more genes
nsv3885378	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 148,842,506-152,370,040 , GRCh38.p12 chr2: 148,084,937-151,513,526	MMADHC, LINC01931, 45 more genes
nsv1398486	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 146,798,229-150,310,317 , GRCh37.p13 chr2: 147,081,759-150,602,071 , GRCh38.p12 chr2: 146,324,191-149,745,557	MMADHC, LINC01911, 38 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	MMADHC, 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	MMADHC, 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	MMADHC, RNU6-674P, 3735 more genes

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

Send to:

Search results

Items: 1 to 20 of 33

Number of Variants: 20

Send to:

Supplemental Content

Find related data

Search details

Recent activity

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 33

Page of 2

Number of Variants: 20

Page of 2

Supplemental Content

Find related data

Search details

Recent activity