LOC105374809[gene] - ClinVar - NCBI

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Items: 15

	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 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 3308454	NM_019896.4(POLE4):c.13G>T (p.Ala5Ser)	LOC105374809, POLE4 (A5S)	Single nucleotide variant (missense variant)	not specified	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 3308455	NM_019896.4(POLE4):c.31A>T (p.Thr11Ser)	LOC105374809, POLE4 (T11S)	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=)	LOC105374809, POLE4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3308456	NM_019896.4(POLE4):c.191T>C (p.Ile64Thr)	LOC105374809, POLE4 (I64T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 3422252	NM_019896.4(POLE4):c.196A>G (p.Ile66Val)	LOC105374809, POLE4 (I66V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance