amdhd2[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7098879	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 2,564,105-2,647,768 , GRCh38.p12 chr16: 2,514,104-2,597,767	AMDHD2, CEMP1, 3 more genes
nsv4455439	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 2,527,176-2,581,549 , GRCh38.p12 chr16: 2,477,175-2,531,548	AMDHD2, ATP6V0C, 3 more genes
nsv3911457	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 2,544,805-3,296,579 , GRCh38 chr16: 2,494,804-3,246,579 , NCBI36 chr16: 2,484,806-3,236,580	AMDHD2, SNORA3C, 70 more genes
nsv3906108	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 61,451-90,294,632 , GRCh38.p12 chr16: 11,451-90,228,224	AMDHD2, CKLF, 1882 more genes
nsv3904593	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 69,193-90,274,381 , GRCh38.p12 chr16: 19,193-90,207,973	AMDHD2, LOC100128079, 1879 more genes
nsv3901410	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 88,165-90,274,695 , GRCh38.p12 chr16: 38,165-90,208,287	AMDHD2, LINC02175, 1877 more genes
nsv3909417	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 88,165-90,163,275 , GRCh38.p12 chr16: 38,165-90,096,867	AMDHD2, PRSS53, 1868 more genes
nsv3892266	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr16: 85,881-90,155,062 , GRCh38.p12 chr16: 35,881-90,088,654	AMDHD2, FTLP14, 1868 more genes
nsv1398297	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 102,839-28,327,676 , GRCh38.p12 chr16: 52,839-28,316,355	AMDHD2, BMERB1, 701 more genes
nsv3903116	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 85,880-22,442,007 , GRCh38.p12 chr16: 35,880-22,430,686	AMDHD2, NPIPA8, 616 more genes
nsv3900978	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 85,880-19,806,921 , GRCh38.p12 chr16: 35,880-19,795,599	AMDHD2, LOC105371091, 543 more genes
nsv3915829	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr16: 656,663-15,744,462 , GRCh38 chr16: 666,662-15,743,104 , GRCh37 chr16: 716,662-15,836,961	AMDHD2, RPL35AP34, 429 more genes
nsv3923267	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 93,732-13,420,663 , GRCh38 chr16: 43,732-13,326,806 , NCBI36 chr16: 33,732-13,328,164	AMDHD2, METRN, 413 more genes
nsv3917929	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 96,766-11,619,372 , GRCh38 chr16: 46,766-11,525,516 , NCBI36 chr16: 36,766-11,526,873	AMDHD2, LOC100130283, 386 more genes
nsv3913858	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 73,141-11,390,552 , GRCh38 chr16: 23,141-11,296,695 , NCBI36 chr16: 13,141-11,298,053	AMDHD2, TPSP1, 382 more genes
nsv3904496	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 85,880-11,209,288 , GRCh38.p12 chr16: 35,880-11,115,431	AMDHD2, HBA2, 372 more genes
nsv3896813	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 85,880-9,883,129 , GRCh38.p12 chr16: 35,880-9,789,272	AMDHD2, HMOX2, 348 more genes
nsv3904669	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 78,801-9,169,448 , GRCh38.p12 chr16: 28,801-9,075,591	AMDHD2, CARHSP1, 337 more genes
nsv6634427	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 111,043-6,627,459 , GRCh38.p12 chr16: 61,045-6,577,458	AMDHD2, HBA1, 312 more genes
nsv6112797	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 84,485-5,251,013 , GRCh38.p12 chr16: 34,485-5,201,012	AMDHD2, ANTKMT, 307 more genes

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Number of Variants: 20

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 44

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Number of Variants: 20

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Supplemental Content

Find related data

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