"Ambry Genetics"[submitter] AND "LOC129391295"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3153006	NM_004726.3(REPS2):c.470A>G (p.His157Arg)	LOC129391295, REPS2 (H157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540794	NM_004726.3(REPS2):c.524G>C (p.Arg175Thr)	LOC129391295, REPS2 (R175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592433	NM_004726.3(REPS2):c.529G>A (p.Asp177Asn)	LOC129391295, REPS2 (D177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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