smarcd1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 7

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	SMARCD1, 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	SMARCD1, 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	SMARCD1, 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	SMARCD1, 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	SMARCD1, OR5BT1P, 2441 more genes
nsv3922260	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr12: 48,520,125-48,995,258 , GRCh38 chr12: 49,840,075-50,315,208 , GRCh37 chr12: 50,233,858-50,708,991	SMARCD1, CERS5, 21 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	SMARCD1, ASIC1, 491 more genes

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smarcd1[All Fields] AND 1[has_clinical] (8)
dbVar
N-acetylmuramoyl-L-alanine amidase [Schaalia odontolytica]
N-acetylmuramoyl-L-alanine amidase [Schaalia odontolytica]
gi|1663042345|gnl|PRJNA282954|FBF35 5|gb|QCT35925.1|

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