afmid[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 18

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Number of Variants: 18

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3907343	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr17: 76,193,188-76,220,266 , GRCh38.p12 chr17: 78,197,107-78,224,185	AFMID, BIRC5
nsv3911811	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577	AFMID, PRPSAP1, 1350 more genes
nsv3903684	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004	AFMID, MIR3185, 2366 more genes
nsv3899740	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564	AFMID, P4HB, 2366 more genes
nsv3906245	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251	AFMID, MIR21, 2366 more genes
nsv3907261	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062	AFMID, SMURF2, 2366 more genes
nsv3914783	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577	AFMID, LOC105371922, 1855 more genes
nsv3909511	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846	AFMID, FOXK2, 958 more genes
nsv4457646	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 62,778,720-81,041,938 , GRCh38.p12 chr17: 64,782,602-83,084,062	AFMID, LOC107985089, 448 more genes
nsv3909523	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 63,689,671-81,041,938 , GRCh38.p12 chr17: 65,693,553-83,084,062	AFMID, RPL38, 428 more genes
nsv3906075	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 67,002,415-81,041,938 , GRCh38.p12 chr17: 69,006,274-83,084,062	AFMID, CEP131, 374 more genes
nsv3917654	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 64,716,815-78,637,842 , GRCh37 chr17: 67,205,220-81,044,553 , GRCh38 chr17: 69,209,079-83,086,677	AFMID, LOC101928447, 368 more genes
nsv3919156	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 69,916,435-83,102,552 , GRCh37 chr17: 67,912,576-81,048,189 , NCBI36 chr17: 65,424,171-78,653,717	AFMID, CD300A, 359 more genes
nsv6315182	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 73,481,509-81,043,199 , GRCh38.p12 chr17: 75,485,428-83,085,323	AFMID, DUS1L, 252 more genes
nsv3897835	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 73,951,701-81,041,938 , GRCh38.p12 chr17: 75,955,620-83,084,062	AFMID, ARHGDIA, 230 more genes
nsv4676104	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 73,261,871-78,608,763 , GRCh38.p12 chr17: 75,265,790-80,634,963	AFMID, LLGL2, 165 more genes
nsv3919635	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 76,088,317-81,044,553 , NCBI36 chr17: 73,599,912-78,637,842 , GRCh38 chr17: 78,092,236-83,086,677	AFMID, LINC03048, 154 more genes
nsv3911899	copy number variation	1	nstd102	human	Likely benign	GRCh38 chr17: 78,092,356-78,444,214 , NCBI36 chr17: 73,600,032-73,951,891 , GRCh37 chr17: 76,088,437-76,440,296	AFMID, SOCS3, 17 more genes

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afmid[All Fields] AND 1[has_clinical] (19)
dbVar
20852[HGNC] (118)
ClinVar
Mus musculus poly(A) binding protein, cytoplasmic 4 (Pabpc4), transcript variant...
Mus musculus poly(A) binding protein, cytoplasmic 4 (Pabpc4), transcript variant 1, mRNA
gi|1249618432|ref|NM_130881.3|

Nucleotide

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