thyrotropin receptor - 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
nsv5674216	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 66,863,078-66,943,703 , GRCh38.p12 chrX: 67,643,236-67,723,861	AR
nsv4454005	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr10: 102,504,143-102,550,116 , GRCh37 chr10: 104,263,900-104,309,873	SUFU
nsv4682720	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 113,874,470-113,892,593 , GRCh38.p12 chr2: 113,116,893-113,135,016	IL1RN
nsv3889017	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,226,889-11,244,506 , GRCh38.p12 chr19: 11,116,213-11,133,830	LDLR
nsv3882659	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,227,675-11,244,506 , GRCh38.p12 chr19: 11,116,999-11,133,830	LDLR
nsv3888180	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 11,116,074-11,131,359 , GRCh37 chr19: 11,226,750-11,242,035	LDLR
nsv3886124	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,231,199-11,244,506 , GRCh38.p12 chr19: 11,120,523-11,133,830	LDLR
nsv3877069	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,226,889-11,240,188 , GRCh38.p12 chr19: 11,116,213-11,129,512	LDLR
nsv5380730	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 43,775,405-43,788,500 , GRCh37.p13 chr12: 44,169,208-44,182,303	IRAK4
nsv3875985	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,205,052-11,217,736 , GRCh38 chr19: 11,094,376-11,107,060	LDLR
nsv3875884	copy number variation	2	nstd102	human	Pathogenic, Conflicting interpretations of pathogenicity	GRCh37 chr19: 11,227,675-11,238,683 , GRCh38.p12 chr19: 11,116,999-11,128,007	LDLR
nsv3874330	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,233,849-11,244,506 , GRCh38.p12 chr19: 11,123,173-11,133,830	LDLR
nsv3887950	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr19: 11,234,021-11,244,506 , GRCh38.p12 chr19: 11,123,345-11,133,830	LDLR
nsv6309114	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 47,469,557-47,478,800 , GRCh38.p12 chr11: 47,448,005-47,457,248	RAPSN
nsv3877545	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr9: 91,727,779-91,736,629 , GRCh37 chr9: 94,490,061-94,498,911	ROR2
nsv3879612	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,234,021-11,242,799 , GRCh38.p12 chr19: 11,123,345-11,132,123	LDLR
nsv5673146	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 11,123,590-11,132,124 , GRCh37 chr19: 11,234,266-11,242,800	LDLR
nsv6312676	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 113,449,377-113,457,830 , GRCh38.p12 chr9: 110,687,097-110,695,550	MUSK
nsv3883586	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,234,021-11,242,212 , GRCh38.p12 chr19: 11,123,345-11,131,536	LDLR
nsv3870882	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr19: 11,234,021-11,241,956 , GRCh38.p12 chr19: 11,123,345-11,131,280	LDLR

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

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Study Type

Subject Phenotype Status

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Items: 1 to 20 of 328

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Number of Variants: 20

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