Related gene-specific medical variations for Gene (Select 79682) - ClinVar - NCBI

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Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309918	NM_152683.4(PRIMPOL):c.1483C>T (p.Pro495Ser)	CENPU, PRIMPOL (P366S +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 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 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 3056030	NM_152683.4(PRIMPOL):c.1450_1458del (p.Ala484_Glu486del)	CENPU, PRIMPOL	Deletion (inframe_deletion +2 more)	PRIMPOL-related disorder	GBenign
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 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 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 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