macroh2a1[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
nsv3889848	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 17,628,741-176,575,720 , GRCh38.p12 chr5: 17,628,632-177,148,719	MACROH2A1, MEGF10, 2080 more genes
nsv3884357	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr5: 86,400,000-154,000,000 , GRCh38.p12 chr5: 87,104,183-154,620,440	MACROH2A1, TXNDC15, 962 more genes
nsv3912937	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 105,955,289-155,551,397 , NCBI36 chr5: 105,983,188-155,483,975 , GRCh38 chr5: 106,619,588-156,124,387	MACROH2A1, LINC01023, 783 more genes
nsv3920627	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr5: 126,864,591-135,314,282 , GRCh37.p13 chr5: 126,836,692-135,286,383 , GRCh38.p12 chr5: 127,501,000-135,950,694	MACROH2A1, MIR1289-2, 138 more genes
nsv6313595	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 132,031,902-137,623,639 , GRCh38.p12 chr5: 132,696,210-138,287,950	MACROH2A1, TGFBI, 110 more genes
nsv3919979	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 132,737,257-137,772,727 , GRCh38 chr5: 133,401,565-138,437,038 , NCBI36 chr5: 132,765,156-137,800,626	MACROH2A1, FBXL21P, 92 more genes
nsv3916850	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 130,962,196-135,150,743 , NCBI36 chr5: 130,990,095-135,178,642 , GRCh38 chr5: 131,626,503-135,815,054	MACROH2A1, SLC25A48-AS1, 96 more genes
nsv3923830	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 132,151,895-134,718,848 , GRCh38 chr5: 132,816,203-135,383,158 , NCBI36 chr5: 132,179,794-134,746,747	MACROH2A1, MTND5P11, 60 more genes
nsv3886374	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 13,648-180,905,029 , GRCh38.p12 chr5: 13,648-181,478,028	MACROH2A1, LOC105374618, 2499 more genes
nsv3871533	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 25,328-180,693,344 , GRCh38.p12 chr5: 25,329-181,266,343	MACROH2A1, PCDHGC5, 2492 more genes
nsv3875235	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr5: 113,577-180,719,789 , GRCh38.p12 chr5: 113,462-181,292,788	MACROH2A1, SPEF2, 2490 more genes
nsv3874238	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 106,716,357-180,687,338 , GRCh38.p12 chr5: 107,380,656-181,260,337	MACROH2A1, PJA2, 1228 more genes
nsv3878636	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 130,125,085-157,574,910 , GRCh38.p12 chr5: 130,789,392-158,147,902	MACROH2A1, LOC100288484, 551 more genes
nsv3923414	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 130,196,621-154,701,371 , NCBI36 chr5: 130,224,520-154,681,564 , GRCh38 chr5: 130,860,928-155,321,811	MACROH2A1, HNRNPA3P7, 514 more genes
nsv3914009	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr5: 129,211,386-152,713,299 , GRCh38 chr5: 129,847,794-153,353,546 , GRCh37 chr5: 129,183,487-152,733,106	MACROH2A1, UQCRQ, 489 more genes
nsv3910250	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr5: 135,297,294-140,106,003 , GRCh37 chr5: 134,632,984-139,485,588 , NCBI36 chr5: 134,660,883-139,465,772	MACROH2A1, SNORD63, 94 more genes
nsv3971975	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr5: 126,377,719-136,270,989 , GRCh38.p12 chr5: 127,042,027-136,935,300	MACROH2A1, ACTBP4, 157 more genes
nsv3884275	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr5: 94,844,077-178,830,410 , GRCh38.p12 chr5: 95,508,373-179,403,409	MACROH2A1, LOC107986368, 1258 more genes
nsv4436202	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr5: 14,685,137-149,511,942 , GRCh38.p12 chr5: 14,685,028-150,132,379	MACROH2A1, RNU1-150P, 1757 more genes
nsv6313506	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr5: 132,829,317-134,983,855 , GRCh38.p12 chr5: 133,493,625-135,648,166	MACROH2A1, RPS10P11, 47 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 22

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 22

Page of 2

Number of Variants: 20

Page of 2

Supplemental Content

Find related data

Search details

Recent activity