klhdc8b[All Fields] AND 1[has_clinical] - dbVar - NCBI

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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
nsv4728146	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 48,807,193-51,363,558 , GRCh38.p12 chr3: 48,769,760-51,326,127	KLHDC8B, APEH, 90 more genes
nsv5673729	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 48,507,870-50,340,407 , GRCh38.p12 chr3: 48,466,471-50,302,976	KLHDC8B, SEMA3B-AS1, 87 more genes
nsv4674083	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 48,346,677-49,630,228 , GRCh38.p12 chr3: 48,305,187-49,592,795	KLHDC8B, MIR6823, 59 more genes
nsv4683411	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 49,158,649-49,570,642 , GRCh38.p12 chr3: 49,121,216-49,533,209	KLHDC8B, C3orf84, 15 more genes
nsv3885606	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156	KLHDC8B, RNU4-62P, 2880 more genes
nsv3889228	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115	KLHDC8B, NDUFB4, 2876 more genes
nsv3880617	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391	KLHDC8B, RPL23AP49, 2875 more genes
nsv4347762	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 45,153,770-53,878,616 , GRCh38.p12 chr3: 45,112,278-53,844,589	KLHDC8B, UQCRC1, 291 more genes
nsv3921797	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 45,896,379-50,762,357 , GRCh38 chr3: 45,879,883-50,749,922 , GRCh37 chr3: 45,921,375-50,787,353	KLHDC8B, RBM5-AS1, 185 more genes
nsv3883164	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr3: 37,028,313-49,929,220 , GRCh38.p12 chr3: 36,986,822-49,891,787	KLHDC8B, ACAA1, 344 more genes
nsv6313476	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 49,060,512-49,678,685 , GRCh38.p12 chr3: 49,023,079-49,641,252	KLHDC8B, DAG1, 23 more genes
nsv3914130	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr3: 49,183,818-49,487,072 , GRCh38 chr3: 49,171,381-49,474,635 , GRCh37 chr3: 49,208,814-49,512,068	KLHDC8B, AMT, 11 more genes
nsv3918356	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 48,988,118-49,208,814 , GRCh38 chr3: 48,950,685-49,171,381 , NCBI36 chr3: 48,963,122-49,183,818	KLHDC8B, USP19, 15 more genes

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klhdc8b[All Fields] AND 1[has_clinical] (14)
dbVar
Annotated Genomic for Nucleotide (Select 1889451378) (2)
Nucleotide
Related DataSets for GEO Profiles (Select 120246503) (1)
GEO DataSets
Oral ruxolinitib effect on alopecia areata patients: scalp skin
Oral ruxolinitib effect on alopecia areata patients: scalp skin
Accession: GDS5275

GEO DataSets
AU159395 THYRO1 Homo sapiens cDNA clone THYRO1001570 3', mRNA sequence
AU159395 THYRO1 Homo sapiens cDNA clone THYRO1001570 3', mRNA sequence
gi|11020916|gnl|dbEST|6588410|dbj|A 95.1|

Nucleotide

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