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

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2296598	NM_152683.4(PRIMPOL):c.1442C>G (p.Thr481Arg)	CENPU, PRIMPOL (T248R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385103	NM_152683.4(PRIMPOL):c.1451C>G (p.Ala484Gly)	CENPU, PRIMPOL (A265G +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218679	NM_152683.4(PRIMPOL):c.1477C>G (p.Gln493Glu)	CENPU, PRIMPOL (Q261E +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408184	NM_152683.4(PRIMPOL):c.1530T>G (p.Asp510Glu)	CENPU, PRIMPOL (D381E +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218680	NM_152683.4(PRIMPOL):c.1538G>C (p.Trp513Ser)	CENPU, PRIMPOL (W280S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218681	NM_152683.4(PRIMPOL):c.1607A>G (p.Glu536Gly)	CENPU, PRIMPOL (E407G +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2534977	NM_152683.4(PRIMPOL):c.1654G>C (p.Glu552Gln)	CENPU, PRIMPOL (E333Q +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303484	NM_024629.4(CENPU):c.1229A>T (p.Gln410Leu)	CENPU (Q410L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207159	NM_024629.4(CENPU):c.1226A>G (p.His409Arg)	CENPU (H409R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219917	NM_024629.4(CENPU):c.1220T>C (p.Ile407Thr)	CENPU (I407T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403032	NM_024629.4(CENPU):c.1214G>A (p.Arg405Gln)	CENPU (R405Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2489045	NM_024629.4(CENPU):c.1207C>T (p.His403Tyr)	CENPU (H403Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222518	NM_024629.4(CENPU):c.1198G>A (p.Ala400Thr)	CENPU (A400T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304465	NM_024629.4(CENPU):c.1148A>G (p.Asp383Gly)	CENPU (D383G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314136	NM_024629.4(CENPU):c.1090C>T (p.Leu364Phe)	CENPU (L364F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456477	NM_024629.4(CENPU):c.1040G>C (p.Arg347Thr)	CENPU (R347T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142442	NM_024629.4(CENPU):c.994C>G (p.Pro332Ala)	CENPU (P332A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304952	NM_024629.4(CENPU):c.958A>G (p.Met320Val)	CENPU (M320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347187	NM_024629.4(CENPU):c.877C>T (p.Leu293Phe)	CENPU (L293F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284989	NM_024629.4(CENPU):c.629A>G (p.Lys210Arg)	CENPU (K210R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142440	NM_024629.4(CENPU):c.601G>T (p.Ala201Ser)	CENPU (A201S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205763	NM_024629.4(CENPU):c.505G>A (p.Ala169Thr)	CENPU (A169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330502	NM_024629.4(CENPU):c.493A>G (p.Ile165Val)	CENPU (I165V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2406287	NM_024629.4(CENPU):c.482G>A (p.Arg161His)	CENPU (R161H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285139	NM_024629.4(CENPU):c.356A>C (p.Glu119Ala)	CENPU (E119A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312595	NM_024629.4(CENPU):c.355G>A (p.Glu119Lys)	CENPU (E119K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404057	NM_024629.4(CENPU):c.263C>T (p.Ser88Phe)	CENPU (S88F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402518	NM_024629.4(CENPU):c.240A>G (p.Ile80Met)	CENPU (I80M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306021	NM_024629.4(CENPU):c.235G>C (p.Ala79Pro)	CENPU (A79P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514467	NM_024629.4(CENPU):c.196G>A (p.Glu66Lys)	CENPU (E66K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142437	NM_024629.4(CENPU):c.134A>T (p.Asp45Val)	CENPU (D45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264293	NM_024629.4(CENPU):c.118C>T (p.Pro40Ser)	CENPU (P40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458264	NM_024629.4(CENPU):c.55C>T (p.Arg19Cys)	CENPU (R19C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142439	NM_024629.4(CENPU):c.34C>T (p.His12Tyr)	CENPU (H12Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363267	NM_024629.4(CENPU):c.10C>T (p.Arg4Trp)	CENPU (R4W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 35