4166[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 155122	GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3	ADAT1, BCAR1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 320503	NM_021615.5(CHST6):c.*5465C>T	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GBenign
Select item 320504	NM_021615.5(CHST6):c.*5452G>C	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GUncertain significance
Select item 320505	NM_021615.5(CHST6):c.*5445G>A	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GBenign
Select item 320506	NM_021615.5(CHST6):c.*5441C>T	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GBenign
Select item 886675	NM_021615.5(CHST6):c.*5311T>C	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GUncertain significance
Select item 320507	NM_021615.5(CHST6):c.*5286A>T	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GBenign
Select item 886676	NM_021615.5(CHST6):c.*5208C>T	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GUncertain significance
Select item 887929	NM_021615.5(CHST6):c.*5197C>T	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GLikely benign
Select item 887930	NM_021615.5(CHST6):c.*5190T>A	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GUncertain significance
Select item 320508	NM_021615.5(CHST6):c.*5187T>G	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GBenign
Select item 320509	NM_021615.5(CHST6):c.*5183G>A	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GUncertain significance
Select item 887931	NM_021615.5(CHST6):c.*5182C>G	CHST6	Single nucleotide variant (3 prime UTR variant +1 more)	Macular corneal dystrophy	GUncertain significance
Select item 320510	NM_021615.5(CHST6):c.*5150G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 887932	NM_021615.5(CHST6):c.*5149C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 887933	NM_021615.5(CHST6):c.*5011G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 884781	NM_021615.5(CHST6):c.*4981C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320511	NM_021615.5(CHST6):c.*4970T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 884782	NM_021615.5(CHST6):c.*4942C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320512	NM_021615.5(CHST6):c.*4880G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GLikely benign
Select item 884783	NM_021615.5(CHST6):c.*4749G>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320513	NM_021615.5(CHST6):c.*4605C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 884784	NM_021615.5(CHST6):c.*4589C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320514	NM_021615.5(CHST6):c.*4586T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885721	NM_021615.5(CHST6):c.*4574G>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885722	NM_021615.5(CHST6):c.*4573C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885723	NM_021615.5(CHST6):c.*4566A>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320515	NM_021615.5(CHST6):c.*4497G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885724	NM_021615.5(CHST6):c.*4494G>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320516	NM_021615.5(CHST6):c.*4487C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GLikely benign
Select item 320517	NM_021615.5(CHST6):c.*4470C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885725	NM_021615.5(CHST6):c.*4460T>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886726	NM_021615.5(CHST6):c.*4444A>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320518	NM_021615.5(CHST6):c.*4373dup	CHST6	Duplication (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320519	NM_021615.5(CHST6):c.*4366T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 886727	NM_021615.5(CHST6):c.*4325A>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320520	NM_021615.5(CHST6):c.*4305T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 886728	NM_021615.5(CHST6):c.*4291T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320521	NM_021615.5(CHST6):c.*4290A>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886729	NM_021615.5(CHST6):c.*4238A>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320522	NM_021615.5(CHST6):c.*4155C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 320523	NM_021615.5(CHST6):c.*4086G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 320524	NM_021615.5(CHST6):c.*4085C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 887980	NM_021615.5(CHST6):c.*4003T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320525	NM_021615.5(CHST6):c.*3992T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 887981	NM_021615.5(CHST6):c.*3983G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 887982	NM_021615.5(CHST6):c.*3947C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 887983	NM_021615.5(CHST6):c.*3917G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GLikely benign
Select item 884850	NM_021615.5(CHST6):c.*3883T>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GLikely benign
Select item 320526	NM_021615.5(CHST6):c.*3828A>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 320527	NM_021615.5(CHST6):c.*3819G>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 320528	NM_021615.5(CHST6):c.*3815G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 884851	NM_021615.5(CHST6):c.*3814C>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320529	NM_021615.5(CHST6):c.*3811A>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320530	NM_021615.5(CHST6):c.*3750C>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 320531	NM_021615.5(CHST6):c.*3742C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 320532	NM_021615.5(CHST6):c.*3679T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885776	NM_021615.5(CHST6):c.*3656C>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320533	NM_021615.5(CHST6):c.3643_3644del	CHST6	Deletion (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320534	NM_021615.5(CHST6):c.*3621A>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 885777	NM_021615.5(CHST6):c.*3608A>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885778	NM_021615.5(CHST6):c.*3602C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 885779	NM_021615.5(CHST6):c.*3547C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320535	NM_021615.5(CHST6):c.*3516T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320536	NM_021615.5(CHST6):c.*3490T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886788	NM_021615.5(CHST6):c.*3465T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 320537	NM_021615.5(CHST6):c.*3441A>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320538	NM_021615.5(CHST6):c.*3364C>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GLikely benign
Select item 886789	NM_021615.5(CHST6):c.*3297C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886790	NM_021615.5(CHST6):c.*3240A>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320539	NM_021615.5(CHST6):c.*3223CT[1]	CHST6	Microsatellite (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 320540	NM_021615.5(CHST6):c.*3082G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320541	NM_021615.5(CHST6):c.*3078G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 886791	NM_021615.5(CHST6):c.*2962G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320542	NM_021615.5(CHST6):c.*2956G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 320543	NM_021615.5(CHST6):c.*2955C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GLikely benign
Select item 320544	NM_021615.5(CHST6):c.*2947G>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GLikely benign
Select item 320545	NM_021615.5(CHST6):c.*2902dup	CHST6	Duplication (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320546	NM_021615.5(CHST6):c.*2836T>C	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 888067	NM_021615.5(CHST6):c.*2833T>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GBenign
Select item 888068	NM_021615.5(CHST6):c.*2770T>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320547	NM_021615.5(CHST6):c.*2652C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 888069	NM_021615.5(CHST6):c.*2635G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320548	NM_021615.5(CHST6):c.*2503G>A	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 884931	NM_021615.5(CHST6):c.*2450C>G	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance
Select item 320549	NM_021615.5(CHST6):c.*2437C>T	CHST6	Single nucleotide variant (3 prime UTR variant)	Macular corneal dystrophy	GUncertain significance

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