ClinVar for Gene (Select 440416) - ClinVar - NCBI

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

Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2647572	NR_164128.1(CCDC144NL):n.185G>T	CCDC144NL-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2647571	NR_164128.1(CCDC144NL):n.390G>A	CCDC144NL-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 785562	NR_164128.1(CCDC144NL):n.351G>A	CCDC144NL-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 784671	NR_164128.1(CCDC144NL):n.266G>A	CCDC144NL-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 784670	NR_164128.1(CCDC144NL):n.374C>T	CCDC144NL-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 773068	NR_164128.1(CCDC144NL):n.259A>G	CCDC144NL-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 769432	NR_164128.1(CCDC144NL):n.358T>C	CCDC144NL-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 709931	NR_164128.1(CCDC144NL):n.169G>A	CCDC144NL-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 709930	NR_164128.1(CCDC144NL):n.170G>A	CCDC144NL-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 709929	NR_164128.1(CCDC144NL):n.241A>G	CCDC144NL-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 154666	GRCh38/hg38 17p11.2(chr17:19744033-21598663)x3	AKAP10, ALDH3A1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 150191	GRCh38/hg38 17p11.2(chr17:20268155-20935953)x1	LOC106020712, LOC106020710 +10 more	Copy number loss	See cases	GLikely benign
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 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic