"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RNASEH2C"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305339	NM_032193.4(RNASEH2C):c.*948dup	KAT5, RNASEH2C	Duplication (3 prime UTR variant +1 more)	Aicardi Goutieres syndrome +2 more	GBenign/Likely benign
Select item 287241	NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val)	RNASEH2C (D164V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 640757	NM_032193.4(RNASEH2C):c.434G>T (p.Arg145Leu)	RNASEH2C (R145L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 836029	NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser)	RNASEH2C (P98S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 305363	NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del)	RNASEH2C (K90del)	Microsatellite (inframe_deletion)	Aicardi Goutieres syndrome +2 more	GBenign/Likely benign
Select item 1260	NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	RNASEH2C (R69W)	Single nucleotide variant (missense variant)	Aicardi Goutieres syndrome +3 more	GConflicting classifications of pathogenicity
Select item 305370	NM_032193.3(RNASEH2C):c.-157C>A	LOC130006062, RNASEH2C	Single nucleotide variant	Aicardi-Goutieres syndrome 3	GLikely benign

ClinVar