"Ambry Genetics"[submitter] AND "CPEB1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076619	NM_001365242.1(CPEB1):c.1614T>G (p.His538Gln)	CPEB1 (H543Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076618	NM_001365242.1(CPEB1):c.1502A>G (p.Asn501Ser)	CPEB1 (N399S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076617	NM_001365242.1(CPEB1):c.1355G>A (p.Arg452Lys)	CPEB1 (R457K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483952	NM_001365242.1(CPEB1):c.1336C>G (p.Gln446Glu)	CPEB1 (Q193E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602806	NM_001365242.1(CPEB1):c.1214C>T (p.Pro405Leu)	CPEB1 (P291L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569164	NM_001365242.1(CPEB1):c.1195C>G (p.Gln399Glu)	CPEB1 (Q302E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310618	NM_001365242.1(CPEB1):c.1094G>A (p.Ser365Asn)	CPEB1 (S263N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302297	NM_001365242.1(CPEB1):c.1069A>G (p.Thr357Ala)	CPEB1 (T357A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269154	NM_001365242.1(CPEB1):c.1045A>G (p.Ile349Val)	CPEB1 (I322V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317099	NM_001365242.1(CPEB1):c.1018G>A (p.Val340Met)	CPEB1 (V340M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605204	NM_001365242.1(CPEB1):c.969T>G (p.Ser323Arg)	CPEB1 (S323R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349074	NM_001365242.1(CPEB1):c.781G>A (p.Asp261Asn)	CPEB1 (D159N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488728	NM_001365242.1(CPEB1):c.698G>A (p.Arg233His)	CPEB1 (R206H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076622	NM_001365242.1(CPEB1):c.607C>G (p.Leu203Val)	CPEB1 (L101V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347385	NM_001365242.1(CPEB1):c.599G>A (p.Arg200Gln)	CPEB1 (R173Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470678	NM_001365242.1(CPEB1):c.598C>T (p.Arg200Trp)	CPEB1 (R98W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076621	NM_001365242.1(CPEB1):c.586C>T (p.Arg196Cys)	CPEB1 (R94C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401283	NM_001365242.1(CPEB1):c.487G>A (p.Gly163Arg)	CPEB1 (G136R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617258	NM_001365242.1(CPEB1):c.472C>T (p.Leu158Phe)	CPEB1 (L131F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593904	NM_001365242.1(CPEB1):c.458C>T (p.Ser153Leu)	CPEB1 (S126L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474106	NM_001365242.1(CPEB1):c.419C>T (p.Thr140Ile)	CPEB1 (T38I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269153	NM_001365242.1(CPEB1):c.406C>G (p.Arg136Gly)	CPEB1 (R34G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076620	NM_001365242.1(CPEB1):c.326C>T (p.Ala109Val)	CPEB1 (A109V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321482	NM_001365242.1(CPEB1):c.320C>T (p.Thr107Ile)	CPEB1 (T107I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226737	NM_001365242.1(CPEB1):c.311T>C (p.Leu104Pro)	CPEB1 (L104P +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2205604	NM_001365242.1(CPEB1):c.230G>A (p.Cys77Tyr)	CPEB1 (C50Y +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2411913	NM_001365242.1(CPEB1):c.185G>A (p.Arg62Lys)	CPEB1 (R35K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2348704	NM_030594.5(CPEB1):c.10C>T (p.Pro4Ser)	CPEB1, CPEB1-AS1 +1 more (P4S)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2354792	NM_030594.5(CPEB1):c.8T>C (p.Phe3Ser)	CPEB1, CPEB1-AS1 +1 more (F3S)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance

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Items: 29