"GeneDx"[submitter] AND "CELF2"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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

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Items: 23