PAPOLG[gene] - ClinVar

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Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 60178	GRCh38/hg38 2p16.1-15(chr2:59224998-61621710)x1	BCL11A, C2orf74 +85 more	Copy number loss	See cases	GPathogenic
Select item 57148	GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1	B3GNT2, BCL11A +118 more	Copy number loss	See cases	GPathogenic
Select item 152014	GRCh38/hg38 2p16.1(chr2:59799150-60779341)x3	BCL11A, LOC110120669 +41 more	Copy number gain	See cases	GUncertain significance
Select item 58870	GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3	BCL11A, C2orf74 +96 more	Copy number gain	See cases	GUncertain significance
Select item 150334	GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3	BCL11A, C2orf74 +72 more	Copy number gain	See cases	GLikely pathogenic
Select item 148468	GRCh38/hg38 2p16.1-15(chr2:60359313-61775405)x3	BCL11A, C2orf74 +73 more	Copy number gain	See cases	GUncertain significance
Select item 3208448	NM_022894.4(PAPOLG):c.194G>A (p.Gly65Asp)	PAPOLG (G65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304243	NM_022894.4(PAPOLG):c.377C>G (p.Ser126Cys)	PAPOLG (S126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208451	NM_022894.4(PAPOLG):c.431A>G (p.Asn144Ser)	PAPOLG (N144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208452	NM_022894.4(PAPOLG):c.518C>G (p.Ala173Gly)	PAPOLG (A173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2920963	NM_022894.4(PAPOLG):c.604G>A (p.Gly202Ser)	PAPOLG (G202S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2329639	NM_022894.4(PAPOLG):c.905G>A (p.Arg302Gln)	PAPOLG (R302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208453	NM_022894.4(PAPOLG):c.940A>G (p.Ile314Val)	PAPOLG (I314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781680	NM_022894.4(PAPOLG):c.1028-7_1028-6del	PAPOLG	Deletion (intron variant)	not provided	GBenign
Select item 791522	NM_022894.4(PAPOLG):c.1028-3_1028-2insTTTTTTTTTTTTTT	PAPOLG	Insertion (intron variant)	not provided	GBenign
Select item 710413	NM_022894.4(PAPOLG):c.1028-3_1028-2insTTTTTTTTTTTTTTTTTTTTTTT	PAPOLG	Insertion (intron variant)	not provided	GLikely benign
Select item 3208442	NM_022894.4(PAPOLG):c.1076A>G (p.Lys359Arg)	PAPOLG (K359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254524	NM_022894.4(PAPOLG):c.1277A>G (p.His426Arg)	PAPOLG (H426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343337	NM_022894.4(PAPOLG):c.1303A>G (p.Met435Val)	PAPOLG (M435V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619469	NM_022894.4(PAPOLG):c.1459G>A (p.Val487Ile)	PAPOLG (V487I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304244	NM_022894.4(PAPOLG):c.1466A>C (p.Lys489Thr)	PAPOLG (K489T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304241	NM_022894.4(PAPOLG):c.1515A>T (p.Lys505Asn)	PAPOLG (K505N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275220	NM_022894.4(PAPOLG):c.1552G>A (p.Gly518Arg)	PAPOLG (G518R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208443	NM_022894.4(PAPOLG):c.1637C>T (p.Pro546Leu)	PAPOLG (P546L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208444	NM_022894.4(PAPOLG):c.1667G>T (p.Gly556Val)	PAPOLG (G556V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208445	NM_022894.4(PAPOLG):c.1681A>G (p.Asn561Asp)	PAPOLG (N561D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304242	NM_022894.4(PAPOLG):c.1771G>A (p.Val591Ile)	PAPOLG (V591I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463739	NM_022894.4(PAPOLG):c.1790C>T (p.Thr597Ile)	PAPOLG (T597I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208447	NM_022894.4(PAPOLG):c.1798C>T (p.Pro600Ser)	PAPOLG (P600S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267237	NM_022894.4(PAPOLG):c.1828G>C (p.Val610Leu)	PAPOLG (V610L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604248	NM_022894.4(PAPOLG):c.1852A>G (p.Ile618Val)	PAPOLG (I618V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304240	NM_022894.4(PAPOLG):c.1921G>A (p.Val641Ile)	PAPOLG (V641I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388964	NM_022894.4(PAPOLG):c.1979A>G (p.Asp660Gly)	PAPOLG (D660G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324175	NM_022894.4(PAPOLG):c.1986A>C (p.Glu662Asp)	PAPOLG (E662D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351827	NM_022894.4(PAPOLG):c.2023C>T (p.Arg675Cys)	PAPOLG (R675C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208449	NM_022894.4(PAPOLG):c.2104C>T (p.Arg702Cys)	PAPOLG (R702C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304238	NM_022894.4(PAPOLG):c.2143T>A (p.Ser715Thr)	PAPOLG (S715T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304239	NM_022894.4(PAPOLG):c.2155C>G (p.Pro719Ala)	PAPOLG (P719A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381050	NM_022894.4(PAPOLG):c.2207G>A (p.Arg736Gln)	PAPOLG (R736Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809090	GRCh37/hg19 2p16.1(chr2:60984521-61104424)x3	PAPOLG	Copy number gain	not provided	GUncertain significance
Select item 1808715	GRCh37/hg19 2p16.1-15(chr2:60680467-61527143)x3	BCL11A, C2orf74 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 625544	GRCh37/hg19 2p16.1-15(chr2:57445335-62733206)	B3GNT2, BCL11A +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 562631	GRCh37/hg19 2p16.1-15(chr2:60573620-61767847)x3	BCL11A, C2orf74 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562624	GRCh37/hg19 2p16.1-15(chr2:60339550-61374752)x3	SANBR, BCL11A +5 more	Copy number gain	not provided	GUncertain significance
Select item 562595	GRCh37/hg19 2p16.1(chr2:60719185-61268266)x1	BCL11A, PAPOLG +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523277	GRCh37/hg19 2p16.1-15(chr2:60308869-62368583)	PEX13, BCL11A +10 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253686	GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3	B3GNT2, BCL11A +11 more	Copy number gain	See cases	GUncertain significance

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Items: 58