"GeneDx"[submitter] AND "RNASEH2B-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1331250	NC_000013.11:g.50909488C>G	RNASEH2B, RNASEH2B-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 1221632	NC_000013.11:g.50909575A>G	RNASEH2B, RNASEH2B-AS1	Single nucleotide variant	not provided	GBenign
Select item 312324	NM_024570.4(RNASEH2B):c.-210G>C	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2 +1 more	GBenign/Likely benign
Select item 312327	NM_024570.4(RNASEH2B):c.-112C>T	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 280090	NM_024570.4(RNASEH2B):c.3G>A (p.Met1Ile)	LOC130009810, RNASEH2B +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 432925	NM_024570.4(RNASEH2B):c.58G>C (p.Val20Leu)	RNASEH2B, RNASEH2B-AS1 +1 more (V20L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1246133	NM_024570.4(RNASEH2B):c.64+80C>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1230657	NM_024570.4(RNASEH2B):c.64+169C>T	RNASEH2B, RNASEH2B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar