CELF3[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	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 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 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 2639180	NM_007185.7(CELF3):c.1026G>A (p.Ala342=)	CELF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 3265721	NM_007185.7(CELF3):c.826G>A (p.Ala276Thr)	CELF3 (A229T +2 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 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 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 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 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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

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Items: 24