"PreventionGenetics, part of Exact Sciences"[submitter] AND "RNASEH2A" - ClinVar - NCBI

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Items: 16

	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 745302	NM_006397.3(RNASEH2A):c.46C>T (p.Leu16=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4 +1 more	GLikely benign
Select item 1360059	NM_006397.3(RNASEH2A):c.198A>T (p.Ala66=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 743040	NM_006397.3(RNASEH2A):c.200-8C>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4 +1 more	GLikely benign
Select item 3033435	NM_006397.3(RNASEH2A):c.323+8G>A	RNASEH2A	Single nucleotide variant (intron variant)	RNASEH2A-related disorder	GLikely benign
Select item 259972	NM_006397.3(RNASEH2A):c.462G>A (p.Gln154=)	RNASEH2A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 259973	NM_006397.3(RNASEH2A):c.550-11T>C	RNASEH2A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 66068	NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)	RNASEH2A (R186W)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4 +2 more	GPathogenic/Likely pathogenic
Select item 259974	NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser)	RNASEH2A (L202S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 733066	NM_006397.3(RNASEH2A):c.638-9C>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4 +1 more	GLikely benign
Select item 328294	NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg)	RNASEH2A (K221R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4 +2 more	GBenign/Likely benign
Select item 781458	NM_006397.3(RNASEH2A):c.684C>T (p.Phe228=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4 +1 more	GLikely benign
Select item 3034099	NM_006397.3(RNASEH2A):c.718_719delinsGCAT (p.Thr240fs)	RNASEH2A (T240fs)	Indel (frameshift variant)	RNASEH2A-related disorder	GLikely pathogenic
Select item 736614	NM_006397.3(RNASEH2A):c.741A>G (p.Lys247=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4 +2 more	GLikely benign
Select item 803523	NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)	RNASEH2A (A249V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 793391	NM_006397.3(RNASEH2A):c.747G>A (p.Ala249=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4 +1 more	GLikely benign