"PreventionGenetics, part of Exact Sciences"[submitter] AND "RPIA"[gen - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 786863	NM_144563.3(RPIA):c.106C>A (p.Leu36Ile)	LOC129934277, RPIA (L36I)	Single nucleotide variant (missense variant)	RPIA-related disorder +1 more	GBenign/Likely benign
Select item 3049376	NM_144563.3(RPIA):c.463-10C>T	RPIA	Single nucleotide variant (intron variant)	RPIA-related disorder	GLikely benign
Select item 337436	NM_144563.3(RPIA):c.858A>G (p.Leu286=)	RPIA	Single nucleotide variant (synonymous variant)	Deficiency of ribose-5-phosphate isomerase +2 more	GBenign
Select item 2725026	NM_144563.3(RPIA):c.935G>A (p.Ter312=)	RPIA	Single nucleotide variant (synonymous variant)	RPIA-related disorder +1 more	GLikely benign

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