ecm1[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
nsv6315003	insertion	1	nstd102	human	Pathogenic	GRCh37 chr1: 150,484,951-150,484,951 , GRCh38 chr1: 150,512,475-150,512,475	ECM1
nsv6315303	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 150,485,082-150,486,244 , GRCh38 chr1: 150,512,606-150,513,768	ECM1, FALEC
nsv3910859	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr1: 148,613,931-148,772,464 , GRCh37.p13 chr1\|NW_003871055.3: 7,190,244-7,283,150 , GRCh37.p13 chr1: 150,347,307-150,505,840 , GRCh38.p12 chr1: 150,374,831-150,533,364	ECM1, MIR6878, 3 more genes
nsv3912840	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	ECM1, CRB1, 1608 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	ECM1, MARK1, 4930 more genes
nsv3885206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793	ECM1, SNAP47, 4927 more genes
nsv3884414	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485	ECM1, RNU1-153P, 4887 more genes
nsv3918947	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	ECM1, LOC101060227, 1608 more genes
nsv3900459	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332	ECM1, HORMAD1, 923 more genes
nsv3887001	copy number variation	1	nstd102	human	Benign	GRCh37 chr1: 150,455,813-150,526,044 , GRCh38.p12 chr1: 150,483,337-150,553,568	ECM1, ADAMTSL4, 5 more genes
nsv3895295	copy number variation	1	nstd102	human	Likely benign	NCBI36 chr1: 148,453,763-148,804,107 , GRCh38 chr1: 150,214,843-150,565,007 , GRCh37 chr1: 150,187,139-150,537,483	ECM1, MRPS21, 18 more genes
nsv5381285	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699	ECM1, DCST1, 2428 more genes
nsv6310678	copy number variation	4	nstd102	human	Uncertain significance	GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642	ECM1, PRPF3, 352 more genes
nsv4453239	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 150,270,870-150,527,943 , GRCh38.p12 chr1: 150,298,445-150,555,467	ECM1, MIR6878, 8 more genes

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ecm1[All Fields] AND 1[has_clinical] (15)
dbVar
Rattus norvegicus transmembrane 4 L six family member 20 (Tm4sf20), mRNA
Rattus norvegicus transmembrane 4 L six family member 20 (Tm4sf20), mRNA
gi|157819848|ref|NM_001109618.1|

Nucleotide

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