CELF2-AS1[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 145555	GRCh38/hg38 10p14(chr10:10750899-11713049)x1	CELF2, CELF2-AS1 +53 more	Copy number loss	See cases	GUncertain significance
Select item 149003	GRCh38/hg38 10p14(chr10:10940950-11775908)x1	CELF2, CELF2-AS1 +54 more	Copy number loss	See cases	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 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 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 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 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 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 1693106	NM_001326342.2(CELF2):c.1516C>T (p.Arg506Cys)	CELF2, CELF2-AS1 (R265C +21 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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
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 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 1398077	NM_001326342.2(CELF2):c.1563C>G (p.Tyr521Ter)	CELF2, CELF2-AS1 (Y490* +21 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 26