PAPOLB[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 57293	GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3	AP5Z1, FOXK1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 148915	GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3	ACTB, FBXL18 +75 more	Copy number gain	See cases	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2207338	NM_020144.5(PAPOLB):c.938T>G (p.Leu313Arg)	PAPOLB, RADIL (L313R)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1809374	GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1	ACTB, AP5Z1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1809324	GRCh37/hg19 7p22.1(chr7:4868426-5184301)x3	MMD2, PAPOLB +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 980814	GRCh37/hg19 7p22.2-22.1(chr7:4457599-5138409)x3	AP5Z1, FOXK1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980262	GRCh37/hg19 7p22.1(chr7:4733073-5157165)x3	RBAK, RBAK-RBAKDN +5 more	Copy number gain	not provided	GUncertain significance
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 684949	GRCh37/hg19 7p22.1(chr7:4807055-4930807)x1	AP5Z1, FOXK1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 548976	GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3	AP5Z1, FOXK1 +8 more	Copy number gain	See cases	GLikely pathogenic
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443404	GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	ACTB, AIMP2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443317	GRCh37/hg19 7p22.2-22.1(chr7:4412278-4933853)x3	AP5Z1, FOXK1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 443024	GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1	AMZ1, AP5Z1 +26 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 254008	GRCh37/hg19 7p22.1(chr7:4560890-5028707)x1	AP5Z1, RADIL +3 more	Copy number loss	See cases	GUncertain significance

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Items: 86