efcab3[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 19

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Number of Variants: 19

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	EFCAB3, 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	EFCAB3, 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	EFCAB3, 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	EFCAB3, 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	EFCAB3, 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	EFCAB3, 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	EFCAB3, FOXK2, 958 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	EFCAB3, 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	EFCAB3, PLEKHH3, 958 more genes
nsv4457799	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 57,869,604-67,078,443 , GRCh38.p12 chr17: 59,792,243-69,082,302	EFCAB3, PECAM1, 215 more genes
nsv4349383	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 57,357,088-66,306,668 , GRCh38.p12 chr17: 59,279,727-68,310,527	EFCAB3, FAM136DP, 214 more genes
nsv3895703	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 56,321,134-62,080,001 , GRCh38.p12 chr17: 58,243,773-64,002,641	EFCAB3, GH2, 161 more genes
nsv3904909	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 59,597,348-64,886,364 , GRCh38.p12 chr17: 61,519,987-66,890,247	EFCAB3, PRELID3BP3, 122 more genes
nsv3896546	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 56,564,411-61,652,777 , GRCh37 chr17: 59,209,629-64,222,315 , GRCh38.p12 chr17: 61,132,268-66,226,197	EFCAB3, LIMD2, 121 more genes
nsv3901434	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 58,388,728-60,486,746 , GRCh38.p12 chr17: 60,311,367-62,409,385	EFCAB3, TBX2, 40 more genes
nsv3920933	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr17: 57,063,244-58,650,548 , GRCh37 chr17: 59,708,462-61,296,816 , GRCh38 chr17: 61,631,101-63,219,455	EFCAB3, MRC2, 30 more genes
nsv3910949	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr17: 57,471,179-58,358,282 , GRCh37 chr17: 60,116,397-61,004,550 , GRCh38 chr17: 62,039,036-62,927,189	EFCAB3, MRC2, 22 more genes
nsv6637728	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 60,070,415-60,450,079 , GRCh38.p12 chr17: 61,993,054-62,372,718	EFCAB3, MED13, 8 more genes
nsv3907574	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 60,073,670-60,450,079 , GRCh38.p12 chr17: 61,996,309-62,372,718	EFCAB3, LOC100996361, 8 more genes

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efcab3[All Fields] AND 1[has_clinical] (20)
dbVar
S41 family peptidase [Leisingera caerulea]
S41 family peptidase [Leisingera caerulea]
gi|2299634582|gnl|PRJNA753157|K3721 0|gb|UWQ53572.1|

Protein
txid1364984[Organism:noexp] (1)
BioProject
Eremopterix leucopareia
Eremopterix leucopareia
Eremopterix leucopareia

BioProject

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