ClinVar for Gene (Select 10658) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265720	NM_001376376.1(CELF1):c.1066C>T (p.Leu356Phe)	CELF1 (L327F +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141941	NM_001376376.1(CELF1):c.1468A>G (p.Met490Val)	CELF1 (M419V +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141939	NM_001376376.1(CELF1):c.1070A>G (p.Asn357Ser)	CELF1 (N314S +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141938	NM_001376376.1(CELF1):c.101A>C (p.His34Pro)	CELF1 (H34P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595751	NM_001376376.1(CELF1):c.190G>A (p.Glu64Lys)	CELF1 (E37K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559985	NM_001376376.1(CELF1):c.1172A>G (p.Tyr391Cys)	CELF1 (Y321C +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529125	NM_001376376.1(CELF1):c.287G>A (p.Arg96His)	CELF1 (R69H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521047	NM_001376376.1(CELF1):c.511G>A (p.Asp171Asn)	CELF1 (D143N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489784	NM_001376376.1(CELF1):c.357A>G (p.Ile119Met)	CELF1 (I92M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483495	NM_001376376.1(CELF1):c.287G>T (p.Arg96Leu)	CELF1 (R96L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468207	NM_001376376.1(CELF1):c.455G>A (p.Arg152Gln)	CELF1 (R125Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 2409251	NM_001376376.1(CELF1):c.355A>G (p.Ile119Val)	CELF1 (I92V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306736	NM_001376376.1(CELF1):c.1106G>A (p.Gly369Asp)	CELF1 (G256D +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301331	NM_001376376.1(CELF1):c.1166A>G (p.Gln389Arg)	CELF1 (Q360R +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277999	NM_001376376.1(CELF1):c.547A>G (p.Thr183Ala)	CELF1 (T156A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ACP2, AGBL2 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	AQP11, CABP4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 791545	NM_001376376.1(CELF1):c.1521G>A (p.Ser507=)	CELF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	GAL3ST3, GALNT18 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	MRGPRX3, MRGPRX4 +1289 more	Copy number gain	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 27