CPSF2[gene] and "single gene"[properties] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2252095	NM_017437.3(CPSF2):c.28C>G (p.Leu10Val)	CPSF2 (L10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362422	NM_017437.3(CPSF2):c.124A>G (p.Met42Val)	CPSF2 (M42V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269276	NM_017437.3(CPSF2):c.403G>A (p.Val135Met)	CPSF2 (V135M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264252	NM_017437.3(CPSF2):c.416G>A (p.Gly139Asp)	CPSF2 (G139D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076885	NM_017437.3(CPSF2):c.436A>G (p.Ile146Val)	CPSF2 (I146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076886	NM_017437.3(CPSF2):c.668T>C (p.Val223Ala)	CPSF2 (V223A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076887	NM_017437.3(CPSF2):c.800C>T (p.Ala267Val)	CPSF2 (A114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605081	NM_017437.3(CPSF2):c.850G>A (p.Val284Ile)	CPSF2 (V284I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076889	NM_017437.3(CPSF2):c.986G>A (p.Ser329Asn)	CPSF2 (S329N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241602	NM_017437.3(CPSF2):c.997C>A (p.Leu333Met)	CPSF2 (L180M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609395	NM_017437.3(CPSF2):c.1019A>C (p.Asp340Ala)	CPSF2 (D187A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076881	NM_017437.3(CPSF2):c.1081C>T (p.Pro361Ser)	CPSF2 (P208S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308893	NM_017437.3(CPSF2):c.1091T>C (p.Leu364Ser)	CPSF2 (L211S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076882	NM_017437.3(CPSF2):c.1096C>T (p.Arg366Cys)	CPSF2 (R213C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076883	NM_017437.3(CPSF2):c.1097G>A (p.Arg366His)	CPSF2 (R213H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400479	NM_017437.3(CPSF2):c.1310C>T (p.Thr437Met)	CPSF2 (T437M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344952	NM_017437.3(CPSF2):c.1346G>A (p.Arg449His)	CPSF2 (R296H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269275	NM_017437.3(CPSF2):c.1378T>G (p.Ser460Ala)	CPSF2 (S460A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339396	NM_017437.3(CPSF2):c.1387A>T (p.Met463Leu)	CPSF2 (M310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468930	NM_017437.3(CPSF2):c.1531A>G (p.Met511Val)	CPSF2 (M511V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480058	NM_017437.3(CPSF2):c.1590A>C (p.Glu530Asp)	CPSF2 (E530D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397038	NM_017437.3(CPSF2):c.1601G>A (p.Arg534Gln)	CPSF2 (R381Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479197	NM_017437.3(CPSF2):c.1736G>A (p.Arg579His)	CPSF2 (R579H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550799	NM_017437.3(CPSF2):c.1895A>T (p.Asp632Val)	CPSF2 (D632V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531287	NM_017437.3(CPSF2):c.1922A>C (p.Lys641Thr)	CPSF2 (K488T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269274	NM_017437.3(CPSF2):c.1969G>A (p.Gly657Arg)	CPSF2 (G504R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349818	NM_017437.3(CPSF2):c.1985T>C (p.Met662Thr)	CPSF2 (M611T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260289	NM_017437.3(CPSF2):c.2080A>T (p.Ser694Cys)	CPSF2 (S541C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541618	NM_017437.3(CPSF2):c.2085G>T (p.Glu695Asp)	CPSF2 (E695D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323006	NM_017437.3(CPSF2):c.2089A>G (p.Ile697Val)	CPSF2 (I646V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539879	NM_017437.3(CPSF2):c.2090T>A (p.Ile697Asn)	CPSF2 (I544N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076884	NM_017437.3(CPSF2):c.2317G>C (p.Asp773His)	CPSF2 (D620H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 564098	GRCh37/hg19 14q32.12(chr14:92614740-92766925)x1	CPSF2	Copy number loss	not provided	GUncertain significance

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Items: 33