Related gene-specific medical variations for Gene (Select 414196) - ClinVar - NCBI

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

Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3392659	NM_001326342.2(CELF2):c.1275del (p.Ala426fs)	CELF2, CELF2-AS1 (A185fs +20 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3383589	NM_001326342.2(CELF2):c.1475C>G (p.Ala492Gly)	CELF2, CELF2-AS1 (A251G +21 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367600	NM_001326342.2(CELF2):c.1532_1537dup (p.Lys512_Arg513insLeuLys)	CELF2, CELF2-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3363634	NM_001326342.2(CELF2):c.1157C>G (p.Thr386Arg)	CELF2, CELF2-AS1 (T145R +20 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252695	NM_001326342.2(CELF2):c.1523A>C (p.Lys508Thr)	CELF2, CELF2-AS1 (K267T +21 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029913	NM_001326342.2(CELF2):c.1097-6G>T	CELF2, CELF2-AS1	Single nucleotide variant (intron variant)	CELF2-related disorder	GLikely benign
Select item 2579922	NM_001326342.2(CELF2):c.1517G>T (p.Arg506Leu)	CELF2, CELF2-AS1 (R265L +21 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2576986	NM_001326342.2(CELF2):c.1507G>A (p.Gly503Ser)	CELF2, CELF2-AS1 (G262S +21 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 97	GUncertain significance
Select item 2576878	NM_001326342.2(CELF2):c.1316_1317del (p.Phe439fs)	CELF2, CELF2-AS1 (F198fs +21 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2498378	NM_001326342.2(CELF2):c.1559C>T (p.Pro520Leu)	CELF2, CELF2-AS1 (P279L +21 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 97	GUncertain significance
Select item 2365037	NM_001326342.2(CELF2):c.1225G>A (p.Ala409Thr)	CELF2, CELF2-AS1 (A414T +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703269	NM_001326342.2(CELF2):c.1118T>C (p.Met373Thr)	CELF2-AS1, CELF2 (M132T +20 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1693106	NM_001326342.2(CELF2):c.1516C>T (p.Arg506Cys)	CELF2, CELF2-AS1 (R265C +21 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1685612	NM_001326342.2(CELF2):c.1353del (p.Asp451fs)	CELF2, CELF2-AS1 (D210fs +21 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 97	GPathogenic
Select item 1398077	NM_001326342.2(CELF2):c.1563C>G (p.Tyr521Ter)	CELF2, CELF2-AS1 (Y490* +21 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1334733	NM_001326342.2(CELF2):c.1517G>A (p.Arg506His)	CELF2, CELF2-AS1 (R265H +21 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 97	GPathogenic
Select item 1299465	NM_001326342.2(CELF2):c.1562dup (p.Tyr521Ter)	CELF2, CELF2-AS1 (Y280* +21 more)	Duplication (nonsense)	Developmental and epileptic encephalopathy 97	GPathogenic
Select item 1299464	NM_001326342.2(CELF2):c.1516C>G (p.Arg506Gly)	CELF2, CELF2-AS1 (R506G +21 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 97	GPathogenic
Select item 1299463	NM_001326342.2(CELF2):c.1558C>T (p.Pro520Ser)	CELF2, CELF2-AS1 (P520S +21 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 97	GPathogenic