CELF2[gene] - ClinVar

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Items: 89

	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	ABI1, ACBD5 +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 148059	GRCh38/hg38 10p14(chr10:9971094-10610835)x3	CELF2, CELF2-DT +4 more	Copy number gain	See cases	GUncertain significance
Select item 145555	GRCh38/hg38 10p14(chr10:10750899-11713049)x1	CELF2, CELF2-AS1 +53 more	Copy number loss	See cases	GUncertain significance
Select item 770961	NM_001326325.2(CELF2):c.1A>T (p.Met1Leu)	CELF2 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 3051355	NM_001326325.2(CELF2):c.16+5G>A	CELF2	Single nucleotide variant (intron variant)	CELF2-related disorder	GLikely benign
Select item 3029879	NM_001326327.2(CELF2):c.10T>G (p.Leu4Val)	CELF2 (L4V)	Single nucleotide variant (missense variant +2 more)	CELF2-related disorder	GLikely benign
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 769767	NM_001326325.2(CELF2):c.146+9G>A	CELF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 149003	GRCh38/hg38 10p14(chr10:10940950-11775908)x1	CELF2, CELF2-AS1 +54 more	Copy number loss	See cases	GUncertain significance
Select item 3257253	NM_001326317.2(CELF2):c.-20+85417T>G	CELF2 (M10R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3048917	NM_001326331.2(CELF2):c.50T>C (p.Leu17Ser)	CELF2 (L17S)	Single nucleotide variant (missense variant +2 more)	CELF2-related disorder	GLikely benign
Select item 1723805	NM_001025077.3(CELF2):c.53+1G>A	CELF2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2629920	NM_001326342.2(CELF2):c.2T>A (p.Met1Lys)	CELF2 (M1K)	Single nucleotide variant (missense variant +2 more)	CELF2-related disorder	GUncertain significance
Select item 3368506	NM_001326342.2(CELF2):c.61G>A (p.Val21Ile)	CELF2 (V21I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501315	NM_001326342.2(CELF2):c.127G>A (p.Asp43Asn)	CELF2 (D12N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252052	NM_001326342.2(CELF2):c.221A>G (p.Tyr74Cys)	CELF2 (Y43C +5 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3375484	NM_001326342.2(CELF2):c.241_262dup (p.Gln88fs)	CELF2 (Q112fs +5 more)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy 97	GLikely pathogenic
Select item 1697015	NM_001326342.2(CELF2):c.245G>A (p.Arg82Gln)	CELF2 (R87Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367914	NM_001326342.2(CELF2):c.254A>G (p.Asn85Ser)	CELF2 (N109S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3233915	NM_001326342.2(CELF2):c.283G>T (p.Val95Leu)	CELF2 (V100L +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2570693	NM_001326342.2(CELF2):c.289T>G (p.Phe97Val)	CELF2 (F121V +5 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy 97	GUncertain significance
Select item 3364387	NM_001326342.2(CELF2):c.403G>A (p.Ala135Thr)	CELF2 (A104T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1802047	NM_001326342.2(CELF2):c.502T>A (p.Cys168Ser)	CELF2 (C137S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2577710	NM_001326342.2(CELF2):c.506G>A (p.Arg169Gln)	CELF2 (R138Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3141942	NM_001326342.2(CELF2):c.571A>G (p.Met191Val)	CELF2 (M160V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1699683	NM_001326342.2(CELF2):c.597G>A (p.Met199Ile)	CELF2 (M168I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1175765	NM_001326342.2(CELF2):c.709C>T (p.Gln237Ter)	CELF2 (Q119* +7 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
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 2505351	NM_001326342.2(CELF2):c.746G>T (p.Gly249Val)	CELF2 (G131V +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 97	GUncertain significance
Select item 2442550	NM_001326342.2(CELF2):c.842G>T (p.Gly281Val)	CELF2 (G163V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373162	NM_001326342.2(CELF2):c.844A>G (p.Met282Val)	CELF2 (M164V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3141943	NM_001326342.2(CELF2):c.877C>G (p.Leu293Val)	CELF2 (L286V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288620	NM_001326342.2(CELF2):c.904A>G (p.Thr302Ala)	CELF2 (T279A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640299	NM_001326342.2(CELF2):c.923A>G (p.Asn308Ser)	CELF2 (N190S +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3338598	NM_001326342.2(CELF2):c.938_939del (p.Ser313fs)	CELF2 (S195fs +7 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy 97	GLikely pathogenic
Select item 3367416	NM_001326342.2(CELF2):c.967A>T (p.Thr323Ser)	CELF2 (T205S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047509	NM_001326342.2(CELF2):c.976+4A>T	CELF2	Single nucleotide variant (intron variant)	CELF2-related disorder	GUncertain significance
Select item 3054657	NM_001326342.2(CELF2):c.977-2A>T	CELF2	Single nucleotide variant (splice acceptor variant)	CELF2-related disorder	GLikely pathogenic
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
Select item 3377600	NM_001326342.2(CELF2):c.1015A>T (p.Met339Leu)	CELF2 (M104L +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	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 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 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/Likely pathogenic
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 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 3367600	NM_001326342.2(CELF2):c.1532_1537dup (p.Lys512_Arg513insLeuLys)	CELF2, CELF2-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
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
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3063156	GRCh37/hg19 10p14(chr10:10732066-11771367)x3	CELF2, USP6NL	Copy number gain	not specified	GUncertain significance
Select item 3063134	GRCh37/hg19 10p14(chr10:10296118-11974769)x1	CELF2, ECHDC3 +3 more	Copy number loss	not specified	GUncertain significance
Select item 2684595	GRCh37/hg19 10p14-13(chr10:10175327-13529362)x3	BEND7, CAMK1D +15 more	Copy number gain	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 1809339	GRCh37/hg19 10p14(chr10:7636590-11590970)x3	ATP5F1C, CELF2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1340770	GRCh37/hg19 10p14(chr10:11102557-11192963)x1	CELF2	Copy number loss	not provided	GLikely benign
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563760	GRCh37/hg19 10p14(chr10:10680064-11529624)x3	USP6NL, CELF2	Copy number gain	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 443077	GRCh37/hg19 10p14(chr10:10738799-11771542)x3	CELF2, USP6NL	Copy number gain	See cases	GUncertain significance
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 3359034	NM_001326342.2(CELF2):c.883del (p.Ala295fs)	CELF2 (A177fs +7 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 97	GPathogenic

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Items: 89