prkag1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 14

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Number of Variants: 14

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv997197	copy number variation	1	nstd45	human	Pathogenic	GRCh38.p12 chr12: 49,018,975-49,055,324 , GRCh37 chr12: 49,412,758-49,449,107	PRKAG1, KMT2D, 1 more genes
nsv4578649	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 49,034,325-49,468,966 , GRCh38.p12 chr12: 48,640,542-49,075,183	PRKAG1, WNT1, 29 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	PRKAG1, RNA5SP369, 2454 more genes
nsv3905447	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316	PRKAG1, LOH12CR2, 2452 more genes
nsv3897722	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059	PRKAG1, RNU4ATAC16P, 2452 more genes
nsv3914194	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807	PRKAG1, BTG1P1, 2451 more genes
nsv3904719	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532	PRKAG1, OR5BT1P, 2441 more genes
nsv1398632	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 31,886,971-50,360,461 , GRCh38.p12 chr12: 31,734,037-49,966,678	PRKAG1, TUBB8P5, 252 more genes
nsv3898591	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 37,857,750-49,791,459 , GRCh38.p12 chr12: 37,463,948-49,397,676	PRKAG1, ZNF75BP, 195 more genes
nsv5564512	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836	PRKAG1, ADCY6, 187 more genes
nsv3902532	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 49,055,179-49,466,566 , GRCh38.p12 chr12: 48,661,396-49,072,783	PRKAG1, SPMIP11, 26 more genes
nsv4728793	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 49,024,019-50,299,974 , GRCh38.p12 chr12: 48,630,236-49,906,191	PRKAG1, SPATS2, 62 more genes
nsv3905831	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 49,191,810-49,630,201 , GRCh38.p12 chr12: 48,798,027-49,236,418	PRKAG1, TUBA1A, 26 more genes
nsv3920847	inversion	1	nstd102	human	Uncertain significance	GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538	PRKAG1, ASIC1, 491 more genes

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prkag1[All Fields] AND 1[has_clinical] (16)
dbVar
30S ribosomal protein S10 (chloroplast) [Durinskia baltica]
30S ribosomal protein S10 (chloroplast) [Durinskia baltica]
gi|299830627|ref|YP_003735075.1|

Protein
"Amazoninema brasiliense" (7)
Nucleotide
RTN4RL1 [Chlorocebus sabaeus]
RTN4RL1 [Chlorocebus sabaeus]
Gene ID:103242122

Gene

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