"Genetic Services Laboratory, University of Chicago"[submitter] AND "S - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130334	NM_018344.5(SLC29A3):c.-63C>T	LOC130004025, SLC29A3	Single nucleotide variant	not provided +1 more	GBenign
Select item 130342	NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly)	SLC29A3 (R18G)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 212200	NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter)	SLC29A3 (R25*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130339	NM_018344.6(SLC29A3):c.300+1G>A	SLC29A3	Single nucleotide variant (splice donor variant)	H syndrome	GPathogenic
Select item 130335	NM_018344.6(SLC29A3):c.304T>C (p.Tyr102His)	SLC29A3 (Y102H +1 more)	Single nucleotide variant (missense variant)	H syndrome	GBenign
Select item 130340	NM_018344.6(SLC29A3):c.383+8A>G	SLC29A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 130341	NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe)	SLC29A3 (S158F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign; drug response
Select item 130336	NM_018344.6(SLC29A3):c.597G>A (p.Gln199=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 130343	NM_018344.6(SLC29A3):c.714T>C (p.Thr238=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 130344	NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile)	SLC29A3 (V239I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 130345	NM_018344.6(SLC29A3):c.831C>T (p.Pro277=)	SLC29A3	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GBenign
Select item 130346	NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro)	SLC29A3 (L281P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome	GBenign
Select item 130347	NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val)	SLC29A3 (I326V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 130337	NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 30949	NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp)	SLC29A3 (R363W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	SLC29A3-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 130338	NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter)	SLC29A3 (Q410* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome +1 more	GPathogenic/Likely pathogenic