"Genome-Nilou Lab"[submitter] AND "RIGI"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1169347	NM_014314.4(RIGI):c.2400A>C (p.Val800=)	RIGI	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1166851	NM_014314.4(RIGI):c.2337+11G>A	RIGI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1168118	NM_014314.4(RIGI):c.1740T>A (p.Asp580Glu)	RIGI (D377E +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1255473	NM_014314.4(RIGI):c.1481-21dup	RIGI	Duplication (intron variant)	Singleton-Merten syndrome 2	GBenign
Select item 1166894	NM_014314.4(RIGI):c.1376-21dup	RIGI	Duplication (intron variant)	not specified +2 more	GBenign
Select item 713116	NM_014314.4(RIGI):c.1059C>T (p.Asn353=)	RIGI	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 2 +1 more	GBenign

ClinVar