"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 238330	NM_001113378.2(FANCI):c.753C>T (p.Asp251=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1209926	NM_001113378.2(FANCI):c.975+10dup	FANCI	Duplication (intron variant)	Fanconi anemia	GBenign
Select item 210985	NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)	FANCI (L605F +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 210986	NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	FANCI-related condition +4 more	GConflicting classifications of pathogenicity
Select item 238320	NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 238326	NM_001113378.2(FANCI):c.3592-8T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG +1 more (Q1236H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +12 more	GBenign/Likely benign
Select item 21312	NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	FANCI, POLG +1 more (E1143G)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 138754	NM_002693.3(POLG):c.3105-11T>C	FANCI, POLG +1 more	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +7 more	GBenign/Likely benign