ClinVar for Gene (Select 11189) - ClinVar

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

Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141945	NM_007185.7(CELF3):c.967G>A (p.Ala323Thr)	CELF3 (A273T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141944	NM_007185.7(CELF3):c.1244G>T (p.Arg415Leu)	CELF3 (R365L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2639180	NM_007185.7(CELF3):c.1026G>A (p.Ala342=)	CELF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2559354	NM_007185.7(CELF3):c.1339G>A (p.Gly447Ser)	CELF3 (G397S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551639	NM_007185.7(CELF3):c.703G>A (p.Val235Met)	CELF3 (V188M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521539	NM_007185.7(CELF3):c.218C>T (p.Thr73Met)	CELF3, RIIAD1 (T73M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495975	NM_007185.7(CELF3):c.1183G>A (p.Glu395Lys)	CELF3 (E348K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400994	NM_007185.7(CELF3):c.935C>T (p.Ala312Val)	CELF3 (A311V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392140	NM_007185.7(CELF3):c.1003G>A (p.Ala335Thr)	CELF3 (A288T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378494	NM_007185.7(CELF3):c.335G>A (p.Arg112Gln)	CELF3 (R112Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289487	NM_007185.7(CELF3):c.134G>T (p.Gly45Val)	CELF3, RIIAD1 (G45V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2214259	NM_007185.7(CELF3):c.436G>A (p.Ala146Thr)	CELF3 (A99T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DAP3, MINDY1 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 992346	NM_007185.7(CELF3):c.626A>T (p.Gln209Leu)	CELF3 (Q162L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic

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: 23