"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 312330	NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)	RNASEH2B (N152S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1262	NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	RNASEH2B (A177T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2 +6 more	GPathogenic/Likely pathogenic
Select item 1174789	NM_024570.4(RNASEH2B):c.562C>T (p.Arg188Trp)	RNASEH2B (R188W)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 312332	NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=)	RNASEH2B	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 286394	NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala)	RNASEH2B (T263A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 281198	NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)	RNASEH2B (I309fs)	Duplication (frameshift variant +1 more)	Aicardi Goutieres syndrome +3 more	GBenign/Likely benign

ClinVar