ClinVar for Gene (Select 339263) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3118961	NR_160801.1(LINC02693):n.354C>T	LINC02693	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3118960	NR_160801.1(LINC02693):n.861C>T	LINC02693	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3118959	NR_160801.1(LINC02693):n.575C>G	LINC02693	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3118958	NR_160801.1(LINC02693):n.275C>T	LINC02693	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3118957	NR_160801.1(LINC02693):n.449C>G	LINC02693	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685057	GRCh37/hg19 17p11.2-11.1(chr17:20675399-22227823)x4	DHRS7B, KCNJ12 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684839	GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	AKAP10, ALDH3A1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 815918	GRCh37/hg19 17p11.2(chr17:21311579-21707933)x3	KCNJ12, LINC02693	Copy number gain	not provided	GUncertain significance
Select item 564421	GRCh37/hg19 17p11.2-11.1(chr17:20465210-22261792)x3	USP22, MTRNR2L1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 547148	GRCh37/hg19 17p11.2(chr17:21195549-21501929)x3	KCNJ12, LINC02693 +1 more	Copy number gain	not provided	GLikely benign
Select item 442933	GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	B9D1, AKAP10 +51 more	Copy number loss	See cases	GPathogenic
Select item 442185	GRCh37/hg19 17p11.2(chr17:20741728-22060092)x3	DHRS7B, KCNJ12 +6 more	Copy number gain	See cases	GUncertain significance
Select item 441980	GRCh37/hg19 17p11.2(chr17:20775032-21545209)x1	DHRS7B, KCNJ12 +5 more	Copy number loss	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 425522	GRCh37/hg19 17p11.2(chr17:21298119-21501929)x3	KCNJ12, LINC02693	Copy number gain	not provided	GUncertain significance
Select item 253865	GRCh37/hg19 17p11.2-q11.2(chr17:21308559-26655801)x3	MTRNR2L1, TMEM97 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154666	GRCh38/hg38 17p11.2(chr17:19744033-21598663)x3	AKAP10, ALDH3A1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 153306	GRCh38/hg38 17p11.2(chr17:21311183-21542019)x1	KCNJ12, LINC02693 +2 more	Copy number loss	See cases	GLikely benign
Select item 153073	GRCh38/hg38 17p11.2(chr17:21530124-22176920)x3	KCNJ18, LINC02693 +2 more	Copy number gain	See cases	GBenign
Select item 147858	GRCh38/hg38 17p11.2(chr17:21416753-22176920)x3	KCNJ12, KCNJ18 +4 more	Copy number gain	See cases	GUncertain significance
Select item 147592	GRCh38/hg38 17p11.2(chr17:21416753-21598663)x3	KCNJ12, LINC02693 +2 more	Copy number gain	See cases	GBenign
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 59297	GRCh38/hg38 17p11.2(chr17:20879426-22533437)x3	CCDC144NL-AS1, DHRS7B +41 more	Copy number gain	See cases	GUncertain significance
Select item 57506	GRCh38/hg38 17p11.2(chr17:20935766-21621469)x1	DHRS7B, KCNJ12 +31 more	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 27