spmap1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 13

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Number of Variants: 13

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
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	SPMAP1, 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	SPMAP1, 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	SPMAP1, 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	SPMAP1, 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	SPMAP1, 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	SPMAP1, LOC105371922, 1855 more genes
nsv3913552	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225	SPMAP1, RNU6-131P, 1075 more genes
nsv3911563	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214	SPMAP1, PLEKHH3, 958 more genes
nsv4457831	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 21,690,653-38,772,647 , GRCh38.p12 chr17: 22,164,047-40,616,395	SPMAP1, LOC105371753, 474 more genes
nsv3908326	copy number variation	1	nstd102	human	Benign	GRCh37 chr17: 36,906,480-36,996,181 , GRCh38.p12 chr17: 38,750,227-38,839,928 , GRCh38.p12 chr17\|NT_187614.1: 2,785,546-2,875,247	SPMAP1, PCGF2, 7 more genes
nsv3903293	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 36,972,794-38,033,708 , GRCh38.p12 chr17: 38,816,541-39,877,455	SPMAP1, LASP1NB, 46 more genes
nsv4675332	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 36,710,984-37,295,662 , GRCh38.p12 chr17: 38,600,767-39,139,409	SPMAP1, PIP4K2B, 32 more genes
nsv7095149	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 36,891,476-37,009,963 , GRCh38.p12 chr17\|NT_187614.1: 2,770,542-2,877,074 , GRCh38.p12 chr17: 38,735,223-38,853,710	SPMAP1, PSMB3, 12 more genes

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spmap1[All Fields] AND 1[has_clinical] (14)
dbVar
34492[HGNC] (10)
ClinVar
14065[HGNC] (116)
ClinVar
histone H2AX [Cucumis sativus]
histone H2AX [Cucumis sativus]
gi|449435726|ref|XP_004135645.1|

Protein
Photosystem II CP43 reaction center protein [Capsicum annuum]
Photosystem II CP43 reaction center protein [Capsicum annuum]
gi|1271078992|gb|PHT78945.1||gnl|WG Z|T459_16997

Protein

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