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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688169	NM_017491.5(WDR1):c.1395+53T>G	WDR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688077	NM_017491.5(WDR1):c.1196+76A>C	WDR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688025	NM_017491.5(WDR1):c.1039+52A>G	WDR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688088	NM_017491.5(WDR1):c.952-34A>C	WDR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688183	NM_017491.5(WDR1):c.717+52C>T	WDR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688007	NM_017491.5(WDR1):c.636+110A>G	WDR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688288	NM_017491.5(WDR1):c.558+58C>T	WDR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1168074	NM_017491.5(WDR1):c.553A>G (p.Ile185Val)	WDR1 (I185V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2688339	NM_017491.5(WDR1):c.138+99C>G	WDR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1164466	NM_017491.5(WDR1):c.138+9C>T	WDR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2688205	NM_017491.5(WDR1):c.-60G>T	LOC129992246, WDR1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 2687995	NM_017491.5(WDR1):c.-87G>C	LOC129992246, WDR1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign