"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1292424	NM_002691.4(POLD1):c.202+21T>C	POLD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 380219	NM_002691.4(POLD1):c.324G>A (p.Ala108=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 380220	NM_002691.4(POLD1):c.356G>A (p.Arg119His)	POLD1 (R119H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GBenign
Select item 371890	NM_002691.4(POLD1):c.463+8G>T	POLD1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1248142	NM_002691.4(POLD1):c.1137+53G>A	POLD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 676483	NM_002691.4(POLD1):c.1243-50T>G	POLD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 380221	NM_002691.4(POLD1):c.2718-12A>G	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 258788	NM_002691.4(POLD1):c.2953+12C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign
Select item 1245273	NM_002691.4(POLD1):c.2954-39A>G	POLD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1266936	NM_001256849.1(POLD1):c.*68T>C	POLD1	Single nucleotide variant (3 prime UTR variant)	Mandibular hypoplasia-deafness-progeroid syndrome +2 more	GBenign