gpa2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 10

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5380796	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397	FAUP4, MMP7, 2031 more genes
nsv6309121	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 64,522,783-66,283,694 , GRCh38.p12 chr11: 64,755,311-66,516,223	SF3B2, ZNRD2-DT, 124 more genes
nsv3893233	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 70,864-134,938,470 , GRCh38.p12 chr11: 70,864-135,068,576	LOC105376598, OSBPL9P2, 2842 more genes
nsv3900144	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 198,510-134,934,063 , GRCh38.p12 chr11: 198,510-135,064,169	RTN3, KRTAP5-13P, 2833 more genes
nsv3908873	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576	IGHMBP2, SYTL2, 2829 more genes
nsv6315537	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 32,799,481-134,938,470 , GRCh38.p12 chr11: 32,777,935-135,068,576	PYGM, ATL3, 2125 more genes
nsv3902272	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 64,501,919-67,129,258 , GRCh38.p12 chr11: 64,734,447-67,361,787	ACTN3, GRK2, 157 more genes
nsv4436237	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 63,533,279-65,429,676 , GRCh38.p12 chr11: 63,765,807-65,662,205	ARL2, BAD, 117 more genes
nsv7093694	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr11: 58,916,346-64,972,349 , GRCh38.p12 chr11: 59,148,873-65,204,878	VPS37C, POLR2G, 298 more genes
nsv4456749	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 64,396,501-64,883,447 , GRCh38.p12 chr11: 64,629,029-65,115,975	EHD1, TM7SF2, 32 more genes

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gpa2[All Fields] AND 1[has_clinical] (11)
dbVar
Genes with a similar H3K4me3 profile for Gene (Select 26580) (123)
Gene
RecName: Full=Seipin; AltName: Full=Bernardinelli-Seip congenital lipodystrophy ...
RecName: Full=Seipin; AltName: Full=Bernardinelli-Seip congenital lipodystrophy type 2 protein
gi|269849705|sp|Q96G97.3|BSCL2_HUMA

Protein
Poikilocytosis
Poikilocytosis

MedGen
C0221281[conceptid] (1)
MedGen

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