"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259971	NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 532919	NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GConflicting classifications of pathogenicity
Select item 632305	NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)	RNASEH2A (T70fs)	Duplication (frameshift variant)	Aicardi-Goutieres syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 784387	NM_006397.3(RNASEH2A):c.339G>T (p.Leu113=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GBenign
Select item 889747	NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GConflicting classifications of pathogenicity
Select item 445579	NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)	RNASEH2A (R186Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 328294	NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg)	RNASEH2A (K221R)	Single nucleotide variant (missense variant)	RNASEH2A-related condition +2 more	GBenign/Likely benign

ClinVar