"GeneDx"[submitter] AND "RNASEH2C"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305336	NM_032193.4(RNASEH2C):c.*1295T>C	RNASEH2C, KAT5	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3 +1 more	GBenign/Likely benign
Select item 1878887	NM_032193.4(RNASEH2C):c.*1115C>T	KAT5, RNASEH2C (R363Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 880428	NM_032193.4(RNASEH2C):c.*1007C>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
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 374648	NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=)	RNASEH2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 419543	NM_032193.4(RNASEH2C):c.451C>T (p.Pro151Ser)	RNASEH2C (P151S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 419542	NM_032193.4(RNASEH2C):c.450G>A (p.Trp150Ter)	RNASEH2C (W150*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1038638	NM_032193.4(RNASEH2C):c.358A>G (p.Ile120Val)	RNASEH2C (I120V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2896167	NM_032193.4(RNASEH2C):c.340C>A (p.Arg114=)	RNASEH2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1028928	NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val)	RNASEH2C (L68V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2504346	NM_032193.4(RNASEH2C):c.176T>C (p.Leu59Pro)	RNASEH2C (L59P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1014463	NM_032193.4(RNASEH2C):c.140T>G (p.Phe47Cys)	LOC130006061, RNASEH2C (F47C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 262018	NM_032193.4(RNASEH2C):c.-10A>G	RNASEH2C	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 1192865	NC_000011.10:g.65721016C>T	RNASEH2C	Single nucleotide variant	not provided	GLikely benign
Select item 1304013	NC_000011.10:g.65721049C>T	RNASEH2C	Single nucleotide variant	not provided	GLikely benign
Select item 1259181	NC_000011.10:g.65721085C>T	RNASEH2C	Single nucleotide variant	not provided	GBenign
Select item 1284058	NC_000011.10:g.65721202C>T	RNASEH2C	Single nucleotide variant	not provided	GBenign
Select item 1281893	NC_000011.10:g.65721220G>T	RNASEH2C	Single nucleotide variant	not provided	GBenign
Select item 1278725	NC_000011.10:g.65721247G>C	RNASEH2C	Single nucleotide variant	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22