"Baylor Genetics"[submitter] AND "SLC19A2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034343	NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val)	LOC129931894, SLC19A2 (F42V)	Single nucleotide variant (missense variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic

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