"GeneDx"[submitter] AND "CELF5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 145812	GRCh38/hg38 19p13.3(chr19:3223852-3306533)x3	CELF5, LOC105372244 +4 more	Copy number gain	See cases	GLikely benign
Select item 373409	NM_021938.4(CELF5):c.661_664dup (p.Arg222fs)	CELF5 (R222fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 373408	NM_021938.4(CELF5):c.1091A>C (p.Gln364Pro)	CELF5 (Q339P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar