"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CELF2"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2640297	NM_001326317.2(CELF2):c.-55-73833G>A	CELF2 (D29N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2640298	NM_001326317.2(CELF2):c.-49G>A	CELF2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1175765	NM_001326342.2(CELF2):c.709C>T (p.Gln237Ter)	CELF2 (Q119* +7 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 97 +1 more	GPathogenic/Likely pathogenic
Select item 1711253	NM_001326342.2(CELF2):c.737A>T (p.Asn246Ile)	CELF2 (N11I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640299	NM_001326342.2(CELF2):c.923A>G (p.Asn308Ser)	CELF2 (N190S +7 more)	Single nucleotide variant (missense variant)	CELF2-related condition +1 more	GLikely benign
Select item 3027307	NM_001326342.2(CELF2):c.1003G>A (p.Ala335Thr)	CELF2 (A100T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar