POLE4[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
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 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 2279443	NM_019896.4(POLE4):c.13G>C (p.Ala5Pro)	LOC105374809, POLE4 (A5P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279709	NM_019896.4(POLE4):c.26G>A (p.Ser9Asn)	LOC105374809, POLE4 (S9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345011	NM_019896.4(POLE4):c.91A>G (p.Thr31Ala)	LOC105374809, POLE4 (T31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212521	NM_019896.4(POLE4):c.92C>A (p.Thr31Lys)	LOC105374809, POLE4 (T31K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247483	NM_019896.4(POLE4):c.109C>T (p.Arg37Cys)	LOC105374809, POLE4 (R37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774287	NM_019896.4(POLE4):c.168G>A (p.Val56=)	POLE4, LOC105374809	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3216326	NM_019896.4(POLE4):c.195C>G (p.Phe65Leu)	LOC105374809, POLE4 (F65L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2206838	NM_019896.4(POLE4):c.251G>T (p.Cys84Phe)	POLE4 (C84F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 1809337	GRCh37/hg19 2p12(chr2:75042935-75308974)x1	HK2, POLE4 +1 more	Copy number loss	not provided	GUncertain significance
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 980975	GRCh37/hg19 2p13.1-12(chr2:74780969-75444113)x3	DOK1, HK2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980974	GRCh37/hg19 2p13.1-12(chr2:74825161-75308974)x3	HK2, M1AP +3 more	Copy number gain	not provided	GLikely benign
Select item 814275	GRCh37/hg19 2p13.1-12(chr2:74892913-75231341)x3	SEMA4F, HK2 +1 more	Copy number gain	not provided	GLikely benign
Select item 689210	GRCh37/hg19 2p13.1-12(chr2:74895347-75829809)x3	EVA1A, HK2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 689089	GRCh37/hg19 2p13.1-12(chr2:74928349-77095981)x3	EVA1A, GCFC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685860	GRCh37/hg19 2p13.1-12(chr2:74972080-83043893)x1	CTNNA2, EVA1A +11 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562623	GRCh37/hg19 2p12(chr2:75185910-76183197)x3	TACR1, MRPL19 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562545	GRCh37/hg19 2p12(chr2:75132410-75348185)x3	POLE4, TACR1	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	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 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 395485	GRCh37/hg19 2p13.1-12(chr2:74901369-75196822)x3	HK2, POLE4 +1 more	Copy number gain	See cases	GLikely benign
Select item 395328	GRCh37/hg19 2p12(chr2:75160356-75196822)x3	POLE4	Copy number gain	See cases	GBenign

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Items: 33