Related gene-specific medical variations for Gene (Select 55698) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304236	NM_020144.5(PAPOLB):c.851A>G (p.Asn284Ser)	PAPOLB, RADIL (N284S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304235	NM_020144.5(PAPOLB):c.6G>A (p.Met2Ile)	PAPOLB, RADIL (M2I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208441	NM_020144.5(PAPOLB):c.946A>G (p.Ile316Val)	PAPOLB, RADIL (I316V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208439	NM_020144.5(PAPOLB):c.625G>A (p.Asp209Asn)	PAPOLB, RADIL (D209N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208438	NM_020144.5(PAPOLB):c.616C>T (p.Arg206Trp)	PAPOLB, RADIL (R206W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208436	NM_020144.5(PAPOLB):c.307T>A (p.Ser103Thr)	PAPOLB, RADIL (S103T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208434	NM_020144.5(PAPOLB):c.1774G>A (p.Glu592Lys)	PAPOLB, RADIL (E592K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208433	NM_020144.5(PAPOLB):c.1663A>G (p.Arg555Gly)	PAPOLB, RADIL (R555G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208431	NM_020144.5(PAPOLB):c.146C>A (p.Pro49His)	PAPOLB, RADIL (P49H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208430	NM_020144.5(PAPOLB):c.123G>T (p.Gln41His)	PAPOLB, RADIL (Q41H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208429	NM_020144.5(PAPOLB):c.1085T>G (p.Leu362Arg)	PAPOLB, RADIL (L362R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657264	NM_020144.5(PAPOLB):c.300G>C (p.Thr100=)	PAPOLB, RADIL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617017	NM_020144.5(PAPOLB):c.603C>G (p.Ser201Arg)	PAPOLB, RADIL (S201R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601613	NM_020144.5(PAPOLB):c.272T>C (p.Ile91Thr)	PAPOLB, RADIL (I91T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595752	NM_020144.5(PAPOLB):c.595A>G (p.Ile199Val)	PAPOLB, RADIL (I199V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595081	NM_020144.5(PAPOLB):c.8C>T (p.Pro3Leu)	PAPOLB, RADIL (P3L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594283	NM_020144.5(PAPOLB):c.337G>A (p.Ala113Thr)	PAPOLB, RADIL (A113T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589670	NM_020144.5(PAPOLB):c.686A>G (p.Lys229Arg)	PAPOLB, RADIL (K229R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589558	NM_020144.5(PAPOLB):c.886C>A (p.Leu296Ile)	PAPOLB, RADIL (L296I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559696	NM_020144.5(PAPOLB):c.434A>G (p.Lys145Arg)	PAPOLB, RADIL (K145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556398	NM_020144.5(PAPOLB):c.929G>A (p.Arg310Lys)	PAPOLB, RADIL (R310K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548641	NM_020144.5(PAPOLB):c.1000A>G (p.Thr334Ala)	PAPOLB, RADIL (T334A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530373	NM_020144.5(PAPOLB):c.868G>C (p.Glu290Gln)	PAPOLB, RADIL (E290Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529395	NM_020144.5(PAPOLB):c.1309A>T (p.Met437Leu)	PAPOLB, RADIL (M437L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526379	NM_020144.5(PAPOLB):c.1562A>G (p.Asp521Gly)	PAPOLB, RADIL (D521G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524767	NM_020144.5(PAPOLB):c.1292T>C (p.Met431Thr)	PAPOLB, RADIL (M431T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514447	NM_020144.5(PAPOLB):c.79A>G (p.Ile27Val)	PAPOLB, RADIL (I27V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510650	NM_020144.5(PAPOLB):c.7C>T (p.Pro3Ser)	PAPOLB, RADIL (P3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489391	NM_020144.5(PAPOLB):c.1597A>C (p.Ser533Arg)	PAPOLB, RADIL (S533R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459828	NM_020144.5(PAPOLB):c.1852A>G (p.Thr618Ala)	PAPOLB, RADIL (T618A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402733	NM_020144.5(PAPOLB):c.1843G>A (p.Val615Ile)	PAPOLB, RADIL (V615I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387110	NM_020144.5(PAPOLB):c.1680G>T (p.Leu560Phe)	PAPOLB, RADIL (L560F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382758	NM_020144.5(PAPOLB):c.1770A>C (p.Leu590Phe)	PAPOLB, RADIL (L590F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377290	NM_020144.5(PAPOLB):c.1259A>G (p.Gln420Arg)	PAPOLB, RADIL (Q420R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368028	NM_020144.5(PAPOLB):c.159C>G (p.Phe53Leu)	PAPOLB, RADIL (F53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339206	NM_020144.5(PAPOLB):c.1459A>G (p.Met487Val)	PAPOLB, RADIL (M487V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333367	NM_020144.5(PAPOLB):c.1847C>A (p.Ser616Tyr)	PAPOLB, RADIL (S616Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325180	NM_020144.5(PAPOLB):c.1495C>T (p.Pro499Ser)	PAPOLB, RADIL (P499S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301525	NM_020144.5(PAPOLB):c.1282A>G (p.Asn428Asp)	PAPOLB, RADIL (N428D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288919	NM_020144.5(PAPOLB):c.558A>T (p.Arg186Ser)	PAPOLB, RADIL (R186S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258414	NM_020144.5(PAPOLB):c.311A>C (p.Tyr104Ser)	PAPOLB, RADIL (Y104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253415	NM_020144.5(PAPOLB):c.524C>T (p.Ala175Val)	PAPOLB, RADIL (A175V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250320	NM_020144.5(PAPOLB):c.1715C>T (p.Ala572Val)	PAPOLB, RADIL (A572V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2249945	NM_020144.5(PAPOLB):c.1384C>A (p.Gln462Lys)	PAPOLB, RADIL (Q462K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211330	NM_020144.5(PAPOLB):c.407C>G (p.Ala136Gly)	PAPOLB, RADIL (A136G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207338	NM_020144.5(PAPOLB):c.938T>G (p.Leu313Arg)	PAPOLB, RADIL (L313R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 46