polr1h[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
nsv1398023	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr6: 30,029,374-30,036,983 , GRCh38.p12 chr6: 30,061,597-30,069,206	POLR1H, PPP1R11, 2 more genes
nsv3877040	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 60,107-171,054,786 , GRCh38.p12 chr6: 60,107-170,745,698	POLR1H, LOC105378061, 2914 more genes
nsv3879811	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 108,666-170,980,171 , GRCh38.p12 chr6: 108,666-170,671,083	POLR1H, RNU6-411P, 2910 more genes
nsv3887898	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr6: 156,975-170,919,482 , GRCh38.p12 chr6: 156,975-170,610,394	POLR1H, SOD1P1, 2905 more genes
nsv3889814	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 165,632-170,919,470 , GRCh38.p12 chr6: 165,632-170,610,382	POLR1H, ITPR3, 2905 more genes
nsv4350067	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 29,455,465-81,447,367 , GRCh38.p12 chr6: 29,487,688-80,737,650	POLR1H, HLA-DPB2, 1001 more genes
nsv3913920	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr6: 156,974-46,789,291 , NCBI36 chr6: 101,974-46,864,987 , GRCh37 chr6: 156,974-46,757,028	POLR1H, TRR-ACG1-2, 1385 more genes
nsv3920564	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr6: 3,224,310-30,657,190 , GRCh37 chr6: 3,224,544-30,624,967 , NCBI36 chr6: 3,169,543-30,732,946	POLR1H, PRELID1P2, 785 more genes
nsv6289880	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr6: 28,005,012-31,683,185 , GRCh38.p12 chr6: 28,037,234-31,715,408	POLR1H, ABCF1, 313 more genes
nsv3870570	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr6: 28,130,359-32,108,367 , GRCh38.p12 chr6: 28,162,581-32,140,590	POLR1H, LOC105375002, 345 more genes
nsv6636314	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr6: 29,162,783-30,236,331 , GRCh38.p12 chr6: 29,195,006-30,268,554	POLR1H, LOC353009, 92 more genes
nsv6636358	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr6: 29,730,504-30,202,199 , GRCh38.p12 chr6: 29,762,727-30,234,422	POLR1H, HCG4P8, 45 more genes
nsv4436385	complex substitution	1	nstd102	human	Uncertain significance	GRCh38.p12 chr6: 29,942,601-30,108,066 , GRCh37 chr6: 29,910,378-30,075,843	POLR1H, HLA-A, 15 more genes

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polr1h[All Fields] AND 1[has_clinical] (14)
dbVar
glycosyltransferase 8 domain-containing protein 1 isoform X1 [Homo sapiens]
glycosyltransferase 8 domain-containing protein 1 isoform X1 [Homo sapiens]
gi|2462591316|ref|XP_054203226.1|

Protein
PREDICTED: Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), tran...
PREDICTED: Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant X9, mRNA
gi|2462591311|ref|XM_054347249.1|

Nucleotide

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