"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 281210	NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr)	SLC19A2 (I441T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 130319	NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=)	SLC19A2	Single nucleotide variant (synonymous variant)	SLC19A2-related condition +4 more	GBenign/Likely benign
Select item 678373	NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser)	SLC19A2 (T365S +1 more)	Single nucleotide variant (missense variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GBenign/Likely benign
Select item 130318	NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=)	SLC19A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 393365	NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu)	SLC19A2 (R275L +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GConflicting classifications of pathogenicity
Select item 293528	NM_006996.3(SLC19A2):c.561G>T (p.Leu187=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1928429	NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)	LOC129931894, SLC19A2 (A16del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance

ClinVar