ClinVar for MedGen (Select 332084) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067855	NM_006397.3(RNASEH2A):c.704G>C (p.Arg235Pro)	RNASEH2A (R235P)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GLikely pathogenic
Select item 3018874	NM_006397.3(RNASEH2A):c.169C>T (p.Leu57=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 3018140	NM_006397.3(RNASEH2A):c.672G>A (p.Val224=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 3011818	NM_006397.3(RNASEH2A):c.186G>T (p.Ala62=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 3007414	NM_006397.3(RNASEH2A):c.324-17T>G	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 3005550	NM_006397.3(RNASEH2A):c.747G>C (p.Ala249=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2997553	NM_006397.3(RNASEH2A):c.242C>G (p.Ala81Gly)	RNASEH2A (A81G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2990662	NM_006397.3(RNASEH2A):c.348G>A (p.Leu116=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2990398	NM_006397.3(RNASEH2A):c.247A>G (p.Met83Val)	RNASEH2A (M83V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2982412	NM_006397.3(RNASEH2A):c.229del (p.Glu77fs)	RNASEH2A (E77fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 2981020	NM_006397.3(RNASEH2A):c.200-16C>G	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2977654	NM_006397.3(RNASEH2A):c.346del (p.Leu116fs)	RNASEH2A (L116fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 2970100	NM_006397.3(RNASEH2A):c.848C>G (p.Ser283Cys)	RNASEH2A (S283C)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2967887	NM_006397.3(RNASEH2A):c.186G>A (p.Ala62=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2963503	NM_006397.3(RNASEH2A):c.642C>T (p.Pro214=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2912910	NM_006397.3(RNASEH2A):c.200-15C>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2912272	NM_006397.3(RNASEH2A):c.214T>C (p.Leu72=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2911528	NM_006397.3(RNASEH2A):c.127+12G>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2906924	NM_006397.3(RNASEH2A):c.723C>T (p.Ala241=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2905764	NM_006397.3(RNASEH2A):c.160del (p.Leu54fs)	RNASEH2A (L54fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 2903055	NM_006397.3(RNASEH2A):c.549+19A>G	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2899659	NM_006397.3(RNASEH2A):c.199+9G>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2890130	NM_006397.3(RNASEH2A):c.637+19A>G	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2881003	NM_006397.3(RNASEH2A):c.177T>C (p.Asp59=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2880089	NM_006397.3(RNASEH2A):c.612T>C (p.Thr204=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2879361	NM_006397.3(RNASEH2A):c.543_544del (p.Ala182fs)	RNASEH2A (A182fs)	Microsatellite (frameshift variant)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 2878648	NM_006397.3(RNASEH2A):c.87C>A (p.Cys29Ter)	LOC117038795, RNASEH2A (C29*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 2876113	NM_006397.3(RNASEH2A):c.412-18T>C	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2871449	NM_006397.3(RNASEH2A):c.138C>T (p.Val46=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2868337	NM_006397.3(RNASEH2A):c.351A>G (p.Ser117=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2863911	NM_006397.3(RNASEH2A):c.550-9T>G	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2862481	NM_006397.3(RNASEH2A):c.339_343dup (p.Ser115Ter)	RNASEH2A (S115*)	Duplication (nonsense)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 2862443	NM_006397.3(RNASEH2A):c.127+7C>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2859511	NM_006397.3(RNASEH2A):c.549+13C>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2855360	NM_006397.3(RNASEH2A):c.127+10T>A	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2854258	NM_006397.3(RNASEH2A):c.426C>G (p.Thr142=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2853903	NM_006397.3(RNASEH2A):c.132C>A (p.Pro44=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2852739	NM_006397.3(RNASEH2A):c.717C>A (p.Arg239=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2850225	NM_006397.3(RNASEH2A):c.237G>A (p.Leu79=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2847567	NM_006397.3(RNASEH2A):c.18G>A (p.Leu6=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2844996	NM_006397.3(RNASEH2A):c.702C>A (p.Val234=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2841730	NM_006397.3(RNASEH2A):c.324-10C>G	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2840647	NM_006397.3(RNASEH2A):c.223G>T (p.Glu75Ter)	RNASEH2A (E75*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 2837059	NM_006397.3(RNASEH2A):c.471dup (p.Pro158fs)	RNASEH2A (P158fs)	Duplication (frameshift variant)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 2832201	NM_006397.3(RNASEH2A):c.870A>G (p.Glu290=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2831410	NM_006397.3(RNASEH2A):c.128-13C>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2830912	NM_006397.3(RNASEH2A):c.447C>T (p.Tyr149=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2830483	NM_006397.3(RNASEH2A):c.843C>T (p.Pro281=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2830446	NM_006397.3(RNASEH2A):c.660G>A (p.Leu220=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2829738	NM_006397.3(RNASEH2A):c.127+15C>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2825305	NM_006397.3(RNASEH2A):c.123G>C (p.Val41=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2822475	NM_006397.3(RNASEH2A):c.127+9C>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2817969	NM_006397.3(RNASEH2A):c.550-8G>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2816053	NM_006397.3(RNASEH2A):c.324-7A>G	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2810227	NM_006397.3(RNASEH2A):c.456G>A (p.Arg152=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2807175	NM_006397.3(RNASEH2A):c.411+15A>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2806853	NM_006397.3(RNASEH2A):c.822T>C (p.Asn274=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2803547	NM_006397.3(RNASEH2A):c.882G>A (p.Glu294=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2803406	NM_006397.3(RNASEH2A):c.96C>A (p.Gly32=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2802617	NM_006397.3(RNASEH2A):c.615T>C (p.Asp205=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2801998	NM_006397.3(RNASEH2A):c.234G>A (p.Arg78=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2801467	NM_006397.3(RNASEH2A):c.637+13G>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2801362	NM_006397.3(RNASEH2A):c.550-4A>C	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2801089	NM_006397.3(RNASEH2A):c.825A>G (p.Glu275=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2799568	NM_006397.3(RNASEH2A):c.637+9A>G	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2793608	NM_006397.3(RNASEH2A):c.519G>A (p.Pro173=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2792378	NM_006397.3(RNASEH2A):c.127+8C>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2792352	NM_006397.3(RNASEH2A):c.207G>A (p.Lys69=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2789721	NM_006397.3(RNASEH2A):c.323+11C>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2789537	NM_006397.3(RNASEH2A):c.414A>G (p.Val138=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2786566	NM_006397.3(RNASEH2A):c.13G>T (p.Glu5Ter)	LOC117038795, RNASEH2A (E5*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 2783909	NM_006397.3(RNASEH2A):c.595C>T (p.Leu199=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2783603	NM_006397.3(RNASEH2A):c.705G>C (p.Arg235=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2783602	NM_006397.3(RNASEH2A):c.128-4C>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2783140	NM_006397.3(RNASEH2A):c.199+18G>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2782025	NM_006397.3(RNASEH2A):c.550-16C>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2781127	NM_006397.3(RNASEH2A):c.345C>T (p.Ser115=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2780915	NM_006397.3(RNASEH2A):c.87C>T (p.Cys29=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2779148	NM_006397.3(RNASEH2A):c.605_606inv (p.Leu202Ser)	RNASEH2A (L202S)	Inversion (missense variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2778508	NM_006397.3(RNASEH2A):c.637+18C>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2769892	NM_006397.3(RNASEH2A):c.549+1G>A	RNASEH2A	Single nucleotide variant (splice donor variant)	Aicardi-Goutieres syndrome 4	GLikely pathogenic
Select item 2765708	NM_006397.3(RNASEH2A):c.276G>T (p.Ala92=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2762043	NM_006397.3(RNASEH2A):c.276G>C (p.Ala92=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2759816	NM_006397.3(RNASEH2A):c.385T>C (p.Leu129=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2759543	NM_006397.3(RNASEH2A):c.591G>A (p.Glu197=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2758127	NM_006397.3(RNASEH2A):c.604T>C (p.Leu202=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2753419	NM_006397.3(RNASEH2A):c.761+12G>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2752509	NM_006397.3(RNASEH2A):c.762-9C>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2751856	NM_006397.3(RNASEH2A):c.200-20T>G	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2749568	NM_006397.3(RNASEH2A):c.549+10dup	RNASEH2A	Duplication (intron variant)	Aicardi-Goutieres syndrome 4	GBenign
Select item 2747137	NM_006397.3(RNASEH2A):c.761+14A>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2740014	NM_006397.3(RNASEH2A):c.459G>C (p.Leu153=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2736218	NM_006397.3(RNASEH2A):c.412-7G>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2731687	NM_006397.3(RNASEH2A):c.638-4C>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2728394	NM_006397.3(RNASEH2A):c.128-12C>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2722972	NM_006397.3(RNASEH2A):c.187C>T (p.Leu63=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2722788	NM_006397.3(RNASEH2A):c.200-1G>T	RNASEH2A	Single nucleotide variant (splice acceptor variant)	Aicardi-Goutieres syndrome 4	GLikely pathogenic
Select item 2711741	NM_006397.3(RNASEH2A):c.648A>G (p.Thr216=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2711210	NM_006397.3(RNASEH2A):c.762-14C>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2710751	NM_006397.3(RNASEH2A):c.762-5C>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign

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