"RIGI-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168035	NM_014314.4(RIGI):c.2709A>G (p.Thr903=)	RIGI	Single nucleotide variant (synonymous variant)	RIGI-related condition +2 more	GBenign
Select item 997537	NM_014314.4(RIGI):c.2587_2590dup (p.Cys864fs)	RIGI (C661fs +6 more)	Duplication (frameshift variant)	not provided +1 more	GLikely benign
Select item 1634773	NM_014314.4(RIGI):c.2014+8T>C	RIGI	Single nucleotide variant (intron variant)	RIGI-related condition +1 more	GLikely benign
Select item 3029670	NM_014314.4(RIGI):c.1799T>G (p.Val600Gly)	RIGI (V397G +5 more)	Single nucleotide variant (missense variant)	RIGI-related condition	GUncertain significance
Select item 774319	NM_014314.4(RIGI):c.1637G>A (p.Arg546Gln)	RIGI (R546Q)	Single nucleotide variant (missense variant)	RIGI-related condition +1 more	GBenign
Select item 2635241	NM_014314.4(RIGI):c.988G>A (p.Glu330Lys)	RIGI (E127K +5 more)	Single nucleotide variant (missense variant)	RIGI-related condition	GLikely pathogenic
Select item 713712	NM_014314.4(RIGI):c.294A>G (p.Glu98=)	RIGI	Single nucleotide variant (synonymous variant)	RIGI-related condition +1 more	GBenign
Select item 774885	NM_014314.4(RIGI):c.212G>A (p.Arg71His)	RIGI (R71H)	Single nucleotide variant (missense variant)	RIGI-related condition +1 more	GBenign
Select item 714773	NM_014314.4(RIGI):c.9C>T (p.Thr3=)	LOC130001628, RIGI	Single nucleotide variant (synonymous variant)	RIGI-related condition +1 more	GBenign/Likely benign

ClinVar