plekhb1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 19

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Number of Variants: 19

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	PLEKHB1, FAUP4, 2031 more genes
nsv3915804	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 71,680,927-77,943,941 , NCBI36 chr11: 71,358,575-77,621,589 , GRCh38 chr11: 71,969,881-78,232,895	PLEKHB1, TPBGL, 173 more genes
nsv3916301	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 71,928,796-77,064,521 , GRCh37 chr11: 71,639,842-76,751,808 , NCBI36 chr11: 71,317,490-76,453,216	PLEKHB1, RN7SL786P, 146 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	PLEKHB1, LOC105376598, 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	PLEKHB1, RTN3, 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	PLEKHB1, IGHMBP2, 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	PLEKHB1, PYGM, 2125 more genes
nsv3898361	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 71,588,805-116,680,918 , GRCh38.p12 chr11: 71,877,759-116,810,202	PLEKHB1, SESN3, 694 more genes
nsv6290827	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr11: 73,149,024-73,572,314 , GRCh38.p12 chr11: 73,437,979-73,861,269	PLEKHB1, RAB6A, 7 more genes
nsv3890912	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr11: 73,276,899-73,615,810 , GRCh38.p12 chr11: 73,565,854-73,904,765	PLEKHB1, LOC268276, 9 more genes
nsv3916336	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 73,358,393-73,638,725 , GRCh38 chr11: 73,647,348-73,927,680 , NCBI36 chr11: 73,036,041-73,316,373	PLEKHB1, RAB6A, 7 more genes
nsv3909181	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 73,323,208-73,593,392 , GRCh38.p12 chr11: 73,612,163-73,882,347	PLEKHB1, COA4, 7 more genes
nsv7094183	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 71,146,421-75,283,128 , GRCh38.p12 chr11: 71,435,375-75,572,083	PLEKHB1, LOC112268078, 142 more genes
nsv4455639	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 73,128,157-73,788,461 , GRCh38.p12 chr11: 73,417,112-74,077,416	PLEKHB1, RAB6A, 16 more genes
nsv3920330	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr11: 72,963,618-73,522,072 , GRCh38 chr11: 73,574,925-74,133,379 , GRCh37 chr11: 73,285,970-73,844,424	PLEKHB1, UCP3, 16 more genes
nsv3913559	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 73,114,283-73,646,329 , NCBI36 chr11: 72,791,931-73,323,977 , GRCh38 chr11: 73,403,238-73,935,284	PLEKHB1, MRPL48, 10 more genes
nsv3891953	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 73,254,213-73,770,541 , GRCh38.p12 chr11: 73,543,168-74,059,496	PLEKHB1, DPPA4P3, 16 more genes
nsv3890585	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 73,197,127-73,712,308 , GRCh38.p12 chr11: 73,486,082-74,001,263	PLEKHB1, LOC100419713, 15 more genes
nsv4675639	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 73,314,584-73,658,201 , GRCh38.p12 chr11: 73,603,539-73,947,156	PLEKHB1, PAAF1, 8 more genes

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