Related gene-specific medical variations for Gene (Select 56853) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141948	NM_020180.4(CELF4):c.547A>G (p.Ile183Val)	CELF4, LOC105372068 (I59V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141947	NM_020180.4(CELF4):c.541T>C (p.Cys181Arg)	CELF4, LOC105372068 (C171R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2920695	NM_020180.4(CELF4):c.792C>A (p.Tyr264Ter)	CELF4 (Y140* +6 more)	Single nucleotide variant (nonsense +1 more)	Developmental disorder	GLikely pathogenic
Select item 2688761	NM_020180.4(CELF4):c.808C>T (p.Gln270Ter)	CELF4 (Q136* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2601545	NM_020180.4(CELF4):c.656C>G (p.Pro219Arg)	CELF4, LOC105372068 (P218R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2552408	NM_020180.4(CELF4):c.509G>T (p.Arg170Leu)	CELF4, LOC105372068 (R170L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801784	NM_020180.4(CELF4):c.658-152G>A	CELF4, LOC105372068	Single nucleotide variant (intron variant)	Myoepithelial tumor	GUncertain significance
Select item 985392	NM_020180.4(CELF4):c.655C>A (p.Pro219Thr)	CELF4, LOC105372068 (P208T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 816002	GRCh37/hg19 18q12.2(chr18:34829775-35915856)x3	CELF4	Copy number gain	not provided	GUncertain significance