ehd2[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
nsv7137147	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr19: 48,197,371-48,246,391 , GRCh38.p12 chr19: 47,694,114-47,743,134	EHD2, BICRA
nsv3904885	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923	EHD2, ZNF321P, 2443 more genes
nsv3903203	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793	EHD2, BABAM1, 2426 more genes
nsv3903092	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521	EHD2, LENG8, 2408 more genes
nsv4457372	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 28,271,106-49,213,832 , GRCh38.p12 chr19: 27,780,198-48,710,575	EHD2, ZNF461, 735 more genes
nsv4676357	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 44,738,088-53,621,561 , GRCh38.p12 chr19: 44,233,935-53,118,308	EHD2, MIR4324, 485 more genes
nsv3924836	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 50,166,517-53,452,471 , GRCh37 chr19: 45,474,677-48,760,659 , GRCh38 chr19: 44,971,420-48,257,402	EHD2, IGFL1P1, 145 more genes
nsv3918983	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 46,658,791-49,050,450 , GRCh37 chr19: 47,162,048-49,553,707 , NCBI36 chr19: 51,853,888-54,245,519	EHD2, LOC105372432, 121 more genes
nsv4350827	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 47,036,361-48,525,536 , GRCh38.p12 chr19: 46,533,104-48,022,279	EHD2, LINC01595, 59 more genes
nsv3900160	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr19: 46,404,248-48,488,721 , GRCh38.p12 chr19: 45,900,990-47,985,464	EHD2, C5AR1, 84 more genes
nsv3911937	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr19: 47,756,887-48,247,971 , NCBI36 chr19: 52,448,727-52,939,783 , GRCh38 chr19: 47,253,630-47,744,714	EHD2, RN7SL322P, 13 more genes
nsv3921709	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 48,063,134-48,282,069 , GRCh38 chr19: 47,559,877-47,778,812	EHD2, SELENOW, 6 more genes
nsv7148237	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr19: 47,257,435-47,886,413 , GRCh37.p13 chr19: 47,760,692-48,389,670	EHD2, KPTN, 22 more genes
nsv4685764	copy number variation	1	nstd102	human	not provided	GRCh37 chr19: 47,939,842-54,626,871 , GRCh38.p12 chr19: 47,436,585-54,071,460	EHD2, SNAR-G1, 453 more genes
nsv4457853	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 48,119,589-49,595,956 , GRCh38.p12 chr19: 47,616,332-49,092,699	EHD2, DHDH, 94 more genes
nsv4676254	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 47,331,662-48,234,260 , GRCh38.p12 chr19: 46,828,405-47,731,003	EHD2, AP2S1, 22 more genes
nsv4676184	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 48,043,102-48,402,210 , GRCh38.p12 chr19: 47,539,845-47,898,953	EHD2, RPL23AP80, 12 more genes
nsv3907068	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 48,206,212-48,431,087 , GRCh38.p12 chr19: 47,702,955-47,927,830	EHD2, TPRX1, 15 more genes
nsv3890952	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 48,242,225-48,399,399 , GRCh38.p12 chr19: 47,738,968-47,896,142	EHD2, CRX, 9 more genes

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