ClinVar for MedGen (Select 324389) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023519	NM_032193.4(RNASEH2C):c.172+19C>T	RNASEH2C, LOC130006061	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 3022029	NM_032193.4(RNASEH2C):c.172+13G>T	LOC130006061, RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 3021390	NM_032193.4(RNASEH2C):c.222G>T (p.Ala74=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 3016363	NM_032193.4(RNASEH2C):c.348+19T>G	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 3010783	NM_032193.4(RNASEH2C):c.405G>A (p.Glu135=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 3009224	NM_032193.4(RNASEH2C):c.172+7C>T	LOC130006061, RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 3004798	NM_032193.4(RNASEH2C):c.173-15C>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2989786	NM_032193.4(RNASEH2C):c.120G>T (p.Gly40=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2989762	NM_032193.4(RNASEH2C):c.333G>A (p.Pro111=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2987669	NM_032193.4(RNASEH2C):c.369T>C (p.Thr123=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2986216	NM_032193.4(RNASEH2C):c.156C>T (p.Ile52=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2981172	NM_032193.4(RNASEH2C):c.447T>C (p.Thr149=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2979027	NM_032193.4(RNASEH2C):c.138C>T (p.Arg46=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2972303	NM_032193.4(RNASEH2C):c.309G>C (p.Gly103=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2970869	NM_032193.4(RNASEH2C):c.295T>C (p.Leu99=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2964861	NM_032193.4(RNASEH2C):c.468+11G>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2963351	NM_032193.4(RNASEH2C):c.237C>G (p.Leu79=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2958266	NM_032193.4(RNASEH2C):c.173-12C>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2910795	NM_032193.4(RNASEH2C):c.420G>T (p.Pro140=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2910743	NM_032193.4(RNASEH2C):c.468+14G>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2903436	NM_032193.4(RNASEH2C):c.168C>G (p.Pro56=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
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 2895510	NM_032193.4(RNASEH2C):c.349-13G>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2894695	NM_032193.4(RNASEH2C):c.357C>T (p.Phe119=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2886328	NM_032193.4(RNASEH2C):c.216G>A (p.Glu72=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2881295	NM_032193.4(RNASEH2C):c.12C>T (p.Gly4=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2874381	NM_032193.4(RNASEH2C):c.255G>A (p.Val85=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2871945	NM_032193.4(RNASEH2C):c.468+20C>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2868827	NM_032193.4(RNASEH2C):c.438G>A (p.Gly146=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2864719	NM_032193.4(RNASEH2C):c.381C>T (p.Ser127=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2863699	NM_032193.4(RNASEH2C):c.96G>T (p.Leu32=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2857856	NM_032193.4(RNASEH2C):c.349-12C>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2854994	NM_032193.4(RNASEH2C):c.102C>T (p.Cys34=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2845932	NM_032193.4(RNASEH2C):c.258A>G (p.Thr86=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2845350	NM_032193.4(RNASEH2C):c.469-14G>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2844700	NM_032193.4(RNASEH2C):c.315C>T (p.Asp105=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2841729	NM_032193.4(RNASEH2C):c.348+7A>G	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2840409	NM_032193.4(RNASEH2C):c.9C>T (p.Ser3=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2839750	NM_032193.4(RNASEH2C):c.348+10G>C	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2838911	NM_032193.4(RNASEH2C):c.349-8T>G	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2836504	NM_032193.4(RNASEH2C):c.324G>A (p.Glu108=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2835393	NM_032193.4(RNASEH2C):c.174A>C (p.Gly58=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2834585	NM_032193.4(RNASEH2C):c.348+7A>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2832765	NM_032193.4(RNASEH2C):c.393G>T (p.Leu131=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2828468	NM_032193.4(RNASEH2C):c.94C>T (p.Leu32=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2827790	NM_032193.4(RNASEH2C):c.71C>T (p.Ala24Val)	LOC130006061, RNASEH2C (A24V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2826939	NM_032193.4(RNASEH2C):c.173-4C>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2825508	NM_032193.4(RNASEH2C):c.349-14G>C	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2825260	NM_032193.4(RNASEH2C):c.469-9C>G	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2825011	NM_032193.4(RNASEH2C):c.400C>G (p.Leu134Val)	RNASEH2C (L134V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2809303	NM_032193.4(RNASEH2C):c.51C>A (p.Arg17=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2807082	NM_032193.4(RNASEH2C):c.150C>T (p.Pro50=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2799426	NM_032193.4(RNASEH2C):c.468+20del	RNASEH2C	Deletion (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2799305	NM_032193.4(RNASEH2C):c.349-18G>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2797471	NM_032193.4(RNASEH2C):c.469-15C>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2795564	NM_032193.4(RNASEH2C):c.348+12G>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2793206	NM_032193.4(RNASEH2C):c.6G>A (p.Glu2=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2787251	NM_032193.4(RNASEH2C):c.468+7A>G	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2785693	NM_032193.4(RNASEH2C):c.75A>G (p.Val25=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2770526	NM_032193.4(RNASEH2C):c.469-9C>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2764228	NM_032193.4(RNASEH2C):c.60A>G (p.Thr20=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2757342	NM_032193.4(RNASEH2C):c.186G>A (p.Ser62=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2755880	NM_032193.4(RNASEH2C):c.469-17G>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2755289	NM_032193.4(RNASEH2C):c.435T>C (p.Arg145=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2754565	NM_032193.4(RNASEH2C):c.172+8C>T	LOC130006061, RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2753593	NM_032193.4(RNASEH2C):c.78C>G (p.Pro26=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2750402	NM_032193.4(RNASEH2C):c.468+15_468+22del	RNASEH2C	Deletion (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2749133	NM_032193.4(RNASEH2C):c.126C>G (p.Ala42=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2748615	NM_032193.4(RNASEH2C):c.192G>C (p.Arg64=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2745827	NM_032193.4(RNASEH2C):c.267G>A (p.Lys89=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2730144	NM_032193.4(RNASEH2C):c.147G>T (p.Thr49=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2728467	NM_032193.4(RNASEH2C):c.309G>A (p.Gly103=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2720722	NM_032193.4(RNASEH2C):c.342G>A (p.Arg114=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2716827	NM_032193.4(RNASEH2C):c.473_474del (p.His158fs)	RNASEH2C (H158fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2708695	NM_032193.4(RNASEH2C):c.486C>T (p.Pro162=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2702052	NM_032193.4(RNASEH2C):c.57C>A (p.Ala19=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2426697	NC_000011.9:g.(?_65325080)_(65639825_?)del	AP5B1, CFL1 +15 more	Deletion	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2198917	NM_032193.4(RNASEH2C):c.85C>G (p.Leu29Val)	LOC130006061, RNASEH2C (L29V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2190433	NM_032193.4(RNASEH2C):c.40G>C (p.Val14Leu)	LOC130006061, RNASEH2C (V14L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2181043	NM_032193.4(RNASEH2C):c.223G>C (p.Val75Leu)	RNASEH2C (V75L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2173857	NM_032193.4(RNASEH2C):c.129G>A (p.Pro43=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2171931	NM_032193.4(RNASEH2C):c.194G>A (p.Gly65Asp)	RNASEH2C (G65D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2162733	NM_032193.4(RNASEH2C):c.469-11T>G	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2161715	NM_032193.4(RNASEH2C):c.246C>T (p.Tyr82=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2148389	NM_032193.4(RNASEH2C):c.348+11G>C	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2148005	NM_032193.4(RNASEH2C):c.118G>C (p.Gly40Arg)	LOC130006061, RNASEH2C (G40R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2141051	NM_032193.4(RNASEH2C):c.251T>C (p.Met84Thr)	RNASEH2C (M84T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2140205	NM_032193.4(RNASEH2C):c.468+10C>G	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2139978	NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg)	LOC130006061, RNASEH2C (G45R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2139150	NM_032193.4(RNASEH2C):c.233G>C (p.Gly78Ala)	RNASEH2C (G78A)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2133406	NM_032193.4(RNASEH2C):c.116_119dup (p.Pro41fs)	LOC130006061, RNASEH2C (P41fs)	Duplication (frameshift variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2133389	NM_032193.4(RNASEH2C):c.322G>A (p.Glu108Lys)	RNASEH2C (E108K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2129832	NM_032193.4(RNASEH2C):c.21G>A (p.Ala7=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2127413	NM_032193.4(RNASEH2C):c.5A>C (p.Glu2Ala)	RNASEH2C (E2A)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2123389	NM_032193.4(RNASEH2C):c.437G>C (p.Gly146Ala)	RNASEH2C (G146A)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2116184	NM_032193.4(RNASEH2C):c.483G>A (p.Val161=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2114514	NM_032193.4(RNASEH2C):c.348+17G>C	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2106541	NM_032193.4(RNASEH2C):c.36C>T (p.His12=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2103025	NM_032193.4(RNASEH2C):c.24C>T (p.Ala8=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign

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