C1835912[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66067	NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi Goutieres syndrome +2 more	GPathogenic/Likely pathogenic
Select item 66065	NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=)	RNASEH2A, LOC117038795	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 4641	NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser)	LOC117038795, RNASEH2A	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 126396	NM_006397.3(RNASEH2A):c.207dup (p.Thr70fs)	RNASEH2A (T70fs)	Duplication (frameshift variant)	Aicardi-Goutieres syndrome 4	Gnot provided
Select item 126397	NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp)	RNASEH2A	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GConflicting classifications of pathogenicity
Select item 66068	NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)	RNASEH2A (R186W)	Single nucleotide variant (missense variant)	RNASEH2A-related condition +2 more	GPathogenic/Likely pathogenic
Select item 126398	NM_006397.3(RNASEH2A):c.690C>A (p.Phe230Leu)	RNASEH2A (F230L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	Gnot provided
Select item 66066	NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)	RNASEH2A (R235Q)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4 +1 more	GLikely pathogenic
Select item 126399	NM_006397.3(RNASEH2A):c.716_717dup (p.Thr240fs)	RNASEH2A (T240fs)	Microsatellite (frameshift variant)	Aicardi-Goutieres syndrome 4	Gnot provided
Select item 126400	NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met)	RNASEH2A (T240M)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 126401	NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His)	RNASEH2A (R291H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance