cchcr1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 12

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3877040	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 60,107-171,054,786 , GRCh38.p12 chr6: 60,107-170,745,698	CCHCR1, 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	CCHCR1, 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	CCHCR1, 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	CCHCR1, 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	CCHCR1, 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	CCHCR1, TRR-ACG1-2, 1385 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	CCHCR1, ABCF1, 313 more genes
nsv4675941	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr6: 31,036,397-34,088,832 , GRCh38.p12 chr6: 31,068,620-34,121,055	CCHCR1, AGER, 217 more genes
nsv7097426	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr6: 30,695,893-36,953,949 , GRCh38.p12 chr6: 30,728,116-36,986,173	CCHCR1, LEMD2, 321 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	CCHCR1, LOC105375002, 345 more genes
nsv7097325	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr6: 30,695,893-31,937,492 , GRCh38.p12 chr6: 30,728,116-31,969,715	CCHCR1, HCG21, 117 more genes
nsv4436473	complex substitution	1	nstd102	human	Uncertain significance	GRCh38.p12 chr6: 31,117,423-31,356,870 , GRCh37 chr6: 31,085,200-31,324,647	CCHCR1, CDSN, 15 more genes

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cchcr1[All Fields] AND 1[has_clinical] (13)
dbVar
txid1739407[Organism] (2899)
Protein
Rattus norvegicus fibroblast growth factor binding protein 3 (Fgfbp3), mRNA
Rattus norvegicus fibroblast growth factor binding protein 3 (Fgfbp3), mRNA
gi|157821224|ref|NM_001109165.1|

Nucleotide
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss...
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

MedGen
C4014942[conceptid] (1)
MedGen

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