"Ambry Genetics"[submitter] AND "RLIG1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2416454	NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys)	CEP290, RLIG1 (E2471K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 444301	NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr)	RLIG1, CEP290 (F2466Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 866908	NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)	CEP290, RLIG1 (K2447T)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +5 more	GUncertain significance
Select item 663263	NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)	CEP290, RLIG1 (V2445fs)	Microsatellite (frameshift variant +1 more)	Meckel-Gruber syndrome +8 more	GPathogenic/Likely pathogenic
Select item 3266144	NM_025114.4(CEP290):c.7290T>A (p.Asn2430Lys)	CEP290, RLIG1 (N2430K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3266149	NM_025114.4(CEP290):c.7285T>C (p.Tyr2429His)	CEP290, RLIG1 (Y2429H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 310586	NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)	CEP290, RLIG1 (D2426N)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 4 +9 more	GUncertain significance

ClinVar