ClinVar for MedGen (Select 324389) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24266971.	NC_000011.9:g.(?_65325080)_(65639825_?)del GRCh37: Chr11:65325080-65639825	AP5B1, CFL1, EFEMP2, EHBP1L1, FAM89B, KAT5, KCNK7, LTBP3, MAP3K11, MUS81, OVOL1, PCNX3, RELA, RNASEH2C, SIPA1, SNX32, ZNRD2		Aicardi-Goutieres syndrome 3	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 24247702.	NC_000011.9:g.(?_64973914)_(70052579_?)dup GRCh37: Chr11:64973914-70052579	ACTN3, ACY3, AIP, ALDH3B1, ALDH3B2, ANKRD13D, ANO1, AP5B1, B4GAT1, BANF1, BBS1, BRMS1, C11orf24, C11orf68, C11orf86, CABP2, CABP4, CAPN1, CARNS1, CATSPER1, CCDC85B, CCDC87, CCND1, CCS, CD248, CDC42EP2, CDK2AP2, CFL1, CHKA, CLCF1, CNIH2, CORO1B, CPT1A, CST6, CTSF, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EIF1AD, FADD, FAM89B, FGF19, FGF3, FGF4, FIBP, FOSL1, FRMD8, GAL, GAL3ST3, GPR152, GRK2, GSTP1, IGHMBP2, KAT5, KCNK7, KDM2A, KLC2, KMT5B, LRFN4, LRP5, LTBP3, LTO1, MALAT1, MAP3K11, MRGPRD, MRGPRF, MRPL11, MRPL21, MUS81, MYEOV, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NPAS4, NUDT8, OVOL1, PACS1, PC, PCNX3, PELI3, PITPNM1, POLA2, POLD4, PPP1CA, PPP6R3, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RELA, RHOD, RIN1, RNASEH2C, RPS6KB2, SART1, SCYL1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX32, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TCIRG1, TESMIN, TIGD3, TMEM134, TMEM151A, TOP6BL, TPCN2, TSGA10IP, UNC93B1, YIF1A, ZDHHC24, ZNRD2		Aicardi-Goutieres syndrome 3, FADD-related immunodeficiency	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 21989173.	NM_032193.4(RNASEH2C):c.85C>G (p.Leu29Val) GRCh37: Chr11:65488145 GRCh38: Chr11:65720674	LOC130006061, RNASEH2C	L29V	Aicardi-Goutieres syndrome 3	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 21904334.	NM_032193.4(RNASEH2C):c.40G>C (p.Val14Leu) GRCh37: Chr11:65488190 GRCh38: Chr11:65720719	LOC130006061, RNASEH2C	V14L	Aicardi-Goutieres syndrome 3	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 21810435.	NM_032193.4(RNASEH2C):c.223G>C (p.Val75Leu) GRCh37: Chr11:65487838 GRCh38: Chr11:65720367	RNASEH2C	V75L	Aicardi-Goutieres syndrome 3	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 21738576.	NM_032193.4(RNASEH2C):c.129G>A (p.Pro43=) GRCh37: Chr11:65488101 GRCh38: Chr11:65720630	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 21719317.	NM_032193.4(RNASEH2C):c.194G>A (p.Gly65Asp) GRCh37: Chr11:65487867 GRCh38: Chr11:65720396	RNASEH2C	G65D	Aicardi-Goutieres syndrome 3	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 21627338.	NM_032193.4(RNASEH2C):c.469-11T>G GRCh37: Chr11:65487291 GRCh38: Chr11:65719820	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 21617159.	NM_032193.4(RNASEH2C):c.246C>T (p.Tyr82=) GRCh37: Chr11:65487815 GRCh38: Chr11:65720344	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 214838910.	NM_032193.4(RNASEH2C):c.348+11G>C GRCh37: Chr11:65487702 GRCh38: Chr11:65720231	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 214800511.	NM_032193.4(RNASEH2C):c.118G>C (p.Gly40Arg) GRCh37: Chr11:65488112 GRCh38: Chr11:65720641	LOC130006061, RNASEH2C	G40R	Aicardi-Goutieres syndrome 3	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 214105112.	NM_032193.4(RNASEH2C):c.251T>C (p.Met84Thr) GRCh37: Chr11:65487810 GRCh38: Chr11:65720339	RNASEH2C	M84T	Aicardi-Goutieres syndrome 3	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 214020513.	NM_032193.4(RNASEH2C):c.468+10C>G GRCh37: Chr11:65487506 GRCh38: Chr11:65720035	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 213997814.	NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg) GRCh37: Chr11:65488097 GRCh38: Chr11:65720626	LOC130006061, RNASEH2C	G45R	Aicardi-Goutieres syndrome 3	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213915015.	NM_032193.4(RNASEH2C):c.233G>C (p.Gly78Ala) GRCh37: Chr11:65487828 GRCh38: Chr11:65720357	RNASEH2C	G78A	Aicardi-Goutieres syndrome 3	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 213340616.	NM_032193.4(RNASEH2C):c.116_119dup (p.Pro41fs) GRCh37: Chr11:65488110-65488111 GRCh38: Chr11:65720639-65720640	LOC130006061, RNASEH2C	P41fs	Aicardi-Goutieres syndrome 3	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213338917.	NM_032193.4(RNASEH2C):c.322G>A (p.Glu108Lys) GRCh37: Chr11:65487739 GRCh38: Chr11:65720268	RNASEH2C	E108K	Aicardi-Goutieres syndrome 3	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 212983218.	NM_032193.4(RNASEH2C):c.21G>A (p.Ala7=) GRCh37: Chr11:65488209 GRCh38: Chr11:65720738	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 212741319.	NM_032193.4(RNASEH2C):c.5A>C (p.Glu2Ala) GRCh37: Chr11:65488225 GRCh38: Chr11:65720754	RNASEH2C	E2A	Aicardi-Goutieres syndrome 3	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 212338920.	NM_032193.4(RNASEH2C):c.437G>C (p.Gly146Ala) GRCh37: Chr11:65487547 GRCh38: Chr11:65720076	RNASEH2C	G146A	Aicardi-Goutieres syndrome 3	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 211618421.	NM_032193.4(RNASEH2C):c.483G>A (p.Val161=) GRCh37: Chr11:65487266 GRCh38: Chr11:65719795	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 211451422.	NM_032193.4(RNASEH2C):c.348+17G>C GRCh37: Chr11:65487696 GRCh38: Chr11:65720225	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 210654123.	NM_032193.4(RNASEH2C):c.36C>T (p.His12=) GRCh37: Chr11:65488194 GRCh38: Chr11:65720723	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 210302524.	NM_032193.4(RNASEH2C):c.24C>T (p.Ala8=) GRCh37: Chr11:65488206 GRCh38: Chr11:65720735	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 210205525.	NM_032193.4(RNASEH2C):c.37del (p.Arg13fs) GRCh37: Chr11:65488193 GRCh38: Chr11:65720722	LOC130006061, RNASEH2C	R13fs	Aicardi-Goutieres syndrome 3	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209025226.	NM_032193.4(RNASEH2C):c.364G>A (p.Ala122Thr) GRCh37: Chr11:65487620 GRCh38: Chr11:65720149	RNASEH2C	A122T	Aicardi-Goutieres syndrome 3	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 208892027.	NM_032193.4(RNASEH2C):c.349-10C>T GRCh37: Chr11:65487645 GRCh38: Chr11:65720174	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 208583628.	NM_032193.4(RNASEH2C):c.192G>T (p.Arg64=) GRCh37: Chr11:65487869 GRCh38: Chr11:65720398	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 208502929.	NC_000011.10:g.65720153_65720165del GRCh37: Chr11:65487621-65487633 GRCh38: Chr11:65720150-65720162	RNASEH2C		Aicardi-Goutieres syndrome 3	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 208267630.	NM_032193.4(RNASEH2C):c.271G>T (p.Val91Leu) GRCh37: Chr11:65487790 GRCh38: Chr11:65720319	RNASEH2C	V91L	Aicardi-Goutieres syndrome 3	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 208134231.	NM_032193.4(RNASEH2C):c.15C>T (p.Asp5=) GRCh37: Chr11:65488215 GRCh38: Chr11:65720744	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 207035232.	NM_032193.4(RNASEH2C):c.213G>A (p.Glu71=) GRCh37: Chr11:65487848 GRCh38: Chr11:65720377	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 206106533.	NM_032193.4(RNASEH2C):c.165C>T (p.Gly55=) GRCh37: Chr11:65488065 GRCh38: Chr11:65720594	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 206103134.	NM_032193.4(RNASEH2C):c.419C>A (p.Pro140Gln) GRCh37: Chr11:65487565 GRCh38: Chr11:65720094	RNASEH2C	P140Q	Aicardi-Goutieres syndrome 3	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 205895335.	NM_032193.4(RNASEH2C):c.469-14_469-9del GRCh37: Chr11:65487289-65487294 GRCh38: Chr11:65719818-65719823	RNASEH2C		Aicardi-Goutieres syndrome 3	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 203085736.	NM_032193.4(RNASEH2C):c.27C>T (p.Ile9=) GRCh37: Chr11:65488203 GRCh38: Chr11:65720732	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 202499337.	NM_032193.4(RNASEH2C):c.402G>A (p.Leu134=) GRCh37: Chr11:65487582 GRCh38: Chr11:65720111	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202305338.	NM_032193.4(RNASEH2C):c.254T>G (p.Val85Gly) GRCh37: Chr11:65487807 GRCh38: Chr11:65720336	RNASEH2C	V85G	Aicardi-Goutieres syndrome 3	Uncertain significance (Dec 1, 2021)	criteria provided, single submitter
Select item 200827839.	NM_032193.4(RNASEH2C):c.32G>A (p.Arg11Lys) GRCh37: Chr11:65488198 GRCh38: Chr11:65720727	RNASEH2C	R11K	Aicardi-Goutieres syndrome 3	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 200401940.	NM_032193.4(RNASEH2C):c.307G>C (p.Gly103Arg) GRCh37: Chr11:65487754 GRCh38: Chr11:65720283	RNASEH2C	G103R	Aicardi-Goutieres syndrome 3	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 199843441.	NM_032193.4(RNASEH2C):c.348+12G>C GRCh37: Chr11:65487701 GRCh38: Chr11:65720230	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 199432542.	NM_032193.4(RNASEH2C):c.244T>C (p.Tyr82His) GRCh37: Chr11:65487817 GRCh38: Chr11:65720346	RNASEH2C	Y82H	Aicardi-Goutieres syndrome 3	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 199261643.	NM_032193.4(RNASEH2C):c.343G>A (p.Asp115Asn) GRCh37: Chr11:65487718 GRCh38: Chr11:65720247	RNASEH2C	D115N	Aicardi-Goutieres syndrome 3	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 199149344.	NM_032193.4(RNASEH2C):c.322GAG[2] (p.Glu110del) GRCh37: Chr11:65487731-65487733 GRCh38: Chr11:65720260-65720262	RNASEH2C	E110del	Aicardi-Goutieres syndrome 3	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 198557845.	NM_032193.4(RNASEH2C):c.110C>G (p.Ala37Gly) GRCh37: Chr11:65488120 GRCh38: Chr11:65720649	LOC130006061, RNASEH2C	A37G	Aicardi-Goutieres syndrome 3	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 198125646.	NM_032193.4(RNASEH2C):c.264_268del (p.Lys89fs) GRCh37: Chr11:65487793-65487797 GRCh38: Chr11:65720322-65720326	RNASEH2C	K89fs	Aicardi-Goutieres syndrome 3	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 198002147.	NM_032193.4(RNASEH2C):c.175C>G (p.Leu59Val) GRCh37: Chr11:65487886 GRCh38: Chr11:65720415	RNASEH2C	L59V	Aicardi-Goutieres syndrome 3	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 197955948.	NM_032193.4(RNASEH2C):c.72C>A (p.Ala24=) GRCh37: Chr11:65488158 GRCh38: Chr11:65720687	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 197800449.	NM_032193.4(RNASEH2C):c.328_329delinsCC (p.Glu110Pro) GRCh37: Chr11:65487732-65487733 GRCh38: Chr11:65720261-65720262	RNASEH2C	E110P	Aicardi-Goutieres syndrome 3	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 197640350.	NM_032193.4(RNASEH2C):c.349G>C (p.Asp117His) GRCh37: Chr11:65487635 GRCh38: Chr11:65720164	RNASEH2C	D117H	Aicardi-Goutieres syndrome 3	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 197143151.	NM_032193.4(RNASEH2C):c.130G>C (p.Val44Leu) GRCh37: Chr11:65488100 GRCh38: Chr11:65720629	LOC130006061, RNASEH2C	V44L	Aicardi-Goutieres syndrome 3	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 197035552.	NM_032193.4(RNASEH2C):c.174A>T (p.Gly58=) GRCh37: Chr11:65487887 GRCh38: Chr11:65720416	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 196752453.	NM_032193.4(RNASEH2C):c.178G>A (p.Glu60Lys) GRCh37: Chr11:65487883 GRCh38: Chr11:65720412	RNASEH2C	E60K	Aicardi-Goutieres syndrome 3	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 196571554.	NM_032193.4(RNASEH2C):c.478C>A (p.Gln160Lys) GRCh37: Chr11:65487271 GRCh38: Chr11:65719800	RNASEH2C	Q160K	Aicardi-Goutieres syndrome 3	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 196543155.	NM_032193.4(RNASEH2C):c.39C>G (p.Arg13=) GRCh37: Chr11:65488191 GRCh38: Chr11:65720720	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 196128556.	NM_032193.4(RNASEH2C):c.306C>T (p.Ser102=) GRCh37: Chr11:65487755 GRCh38: Chr11:65720284	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 195047657.	NM_032193.4(RNASEH2C):c.446C>G (p.Thr149Ser) GRCh37: Chr11:65487538 GRCh38: Chr11:65720067	RNASEH2C	T149S	Aicardi-Goutieres syndrome 3, Inborn genetic diseases	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194717158.	NM_032193.4(RNASEH2C):c.192G>A (p.Arg64=) GRCh37: Chr11:65487869 GRCh38: Chr11:65720398	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 194579859.	NM_032193.4(RNASEH2C):c.163G>C (p.Gly55Arg) GRCh37: Chr11:65488067 GRCh38: Chr11:65720596	LOC130006061, RNASEH2C	G55R	Aicardi-Goutieres syndrome 3	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 194510260.	NM_032193.4(RNASEH2C):c.474C>T (p.His158=) GRCh37: Chr11:65487275 GRCh38: Chr11:65719804	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 194478361.	NM_032193.4(RNASEH2C):c.157C>T (p.Arg53Cys) GRCh37: Chr11:65488073 GRCh38: Chr11:65720602	LOC130006061, RNASEH2C	R53C	Aicardi-Goutieres syndrome 3	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 193539862.	NM_032193.4(RNASEH2C):c.334C>T (p.Leu112=) GRCh37: Chr11:65487727 GRCh38: Chr11:65720256	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 189922363.	NM_032193.4(RNASEH2C):c.294C>T (p.Pro98=) GRCh37: Chr11:65487767 GRCh38: Chr11:65720296	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 180621064.	NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly) GRCh37: Chr11:65487580 GRCh38: Chr11:65720109	RNASEH2C	E135G	Aicardi-Goutieres syndrome 3	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 171746865.	NM_032193.4(RNASEH2C):c.194G>T (p.Gly65Val) GRCh37: Chr11:65487867 GRCh38: Chr11:65720396	RNASEH2C	G65V	Aicardi-Goutieres syndrome 3	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 171692366.	NM_032193.4(RNASEH2C):c.193G>A (p.Gly65Ser) GRCh37: Chr11:65487868 GRCh38: Chr11:65720397	RNASEH2C	G65S	Aicardi-Goutieres syndrome 3	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 171532367.	NM_032193.4(RNASEH2C):c.259G>A (p.Glu87Lys) GRCh37: Chr11:65487802 GRCh38: Chr11:65720331	RNASEH2C	E87K	Aicardi-Goutieres syndrome 3	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171376368.	NM_032193.4(RNASEH2C):c.470T>A (p.Ile157Asn) GRCh37: Chr11:65487279 GRCh38: Chr11:65719808	RNASEH2C	I157N	Aicardi-Goutieres syndrome 3	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 169728869.	NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp) GRCh37: Chr11:65487586 GRCh38: Chr11:65720115	RNASEH2C	G133D	Aicardi-Goutieres syndrome 3	Uncertain significance	no assertion criteria provided
Select item 166950670.	NM_032193.4(RNASEH2C):c.258A>T (p.Thr86=) GRCh37: Chr11:65487803 GRCh38: Chr11:65720332	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jul 1, 2021)	criteria provided, single submitter
Select item 166852771.	NM_032193.4(RNASEH2C):c.12C>G (p.Gly4=) GRCh37: Chr11:65488218 GRCh38: Chr11:65720747	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 166583272.	NM_032193.4(RNASEH2C):c.426C>T (p.Ala142=) GRCh37: Chr11:65487558 GRCh38: Chr11:65720087	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 165624573.	NM_032193.4(RNASEH2C):c.348+10G>A GRCh37: Chr11:65487703 GRCh38: Chr11:65720232	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jul 6, 2021)	criteria provided, single submitter
Select item 165548474.	NM_032193.4(RNASEH2C):c.222G>A (p.Ala74=) GRCh37: Chr11:65487839 GRCh38: Chr11:65720368	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 164728175.	NM_032193.4(RNASEH2C):c.469-19G>A GRCh37: Chr11:65487299 GRCh38: Chr11:65719828	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 164638276.	NM_032193.4(RNASEH2C):c.172+12G>A GRCh37: Chr11:65488046 GRCh38: Chr11:65720575	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Nov 21, 2021)	criteria provided, single submitter
Select item 164270077.	NM_032193.4(RNASEH2C):c.172+17G>C GRCh37: Chr11:65488041 GRCh38: Chr11:65720570	RNASEH2C, LOC130006061		Aicardi-Goutieres syndrome 3	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 164042978.	NM_032193.4(RNASEH2C):c.159C>T (p.Arg53=) GRCh37: Chr11:65488071 GRCh38: Chr11:65720600	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Nov 26, 2020)	criteria provided, single submitter
Select item 163963179.	NM_032193.4(RNASEH2C):c.78C>T (p.Pro26=) GRCh37: Chr11:65488152 GRCh38: Chr11:65720681	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 163959980.	NM_032193.4(RNASEH2C):c.336G>A (p.Leu112=) GRCh37: Chr11:65487725 GRCh38: Chr11:65720254	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 163729981.	NM_032193.4(RNASEH2C):c.468+13G>C GRCh37: Chr11:65487503 GRCh38: Chr11:65720032	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 162931082.	NM_032193.4(RNASEH2C):c.468+16G>A GRCh37: Chr11:65487500 GRCh38: Chr11:65720029	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 162723183.	NM_032193.4(RNASEH2C):c.349-16C>T GRCh37: Chr11:65487651 GRCh38: Chr11:65720180	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 162502084.	NM_032193.4(RNASEH2C):c.489G>A (p.Glu163=) GRCh37: Chr11:65487260 GRCh38: Chr11:65719789	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 161962485.	NM_032193.4(RNASEH2C):c.172+15C>T GRCh37: Chr11:65488043 GRCh38: Chr11:65720572	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Nov 29, 2021)	criteria provided, single submitter
Select item 161934586.	NM_032193.4(RNASEH2C):c.348+19T>C GRCh37: Chr11:65487694 GRCh38: Chr11:65720223	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 161886087.	NM_032193.4(RNASEH2C):c.469-12C>G GRCh37: Chr11:65487292 GRCh38: Chr11:65719821	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Feb 13, 2022)	criteria provided, single submitter
Select item 161411988.	NM_032193.4(RNASEH2C):c.173-13C>T GRCh37: Chr11:65487901 GRCh38: Chr11:65720430	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Dec 11, 2021)	criteria provided, single submitter
Select item 160589089.	NM_032193.4(RNASEH2C):c.348+11G>A GRCh37: Chr11:65487702 GRCh38: Chr11:65720231	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 160206590.	NM_032193.4(RNASEH2C):c.141C>T (p.Phe47=) GRCh37: Chr11:65488089 GRCh38: Chr11:65720618	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 159336091.	NM_032193.4(RNASEH2C):c.349-12C>G GRCh37: Chr11:65487647 GRCh38: Chr11:65720176	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 159118392.	NM_032193.4(RNASEH2C):c.468+14G>A GRCh37: Chr11:65487502 GRCh38: Chr11:65720031	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 158358193.	NM_032193.4(RNASEH2C):c.468+12_468+13del GRCh37: Chr11:65487503-65487504 GRCh38: Chr11:65720032-65720033	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 158162894.	NM_032193.4(RNASEH2C):c.468+17T>C GRCh37: Chr11:65487499 GRCh38: Chr11:65720028	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 157990095.	NM_032193.4(RNASEH2C):c.66C>T (p.Arg22=) GRCh37: Chr11:65488164 GRCh38: Chr11:65720693	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Aug 23, 2021)	criteria provided, single submitter
Select item 157920496.	NM_032193.4(RNASEH2C):c.349-9C>G GRCh37: Chr11:65487644 GRCh38: Chr11:65720173	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 157297397.	NM_032193.4(RNASEH2C):c.85C>T (p.Leu29=) GRCh37: Chr11:65488145 GRCh38: Chr11:65720674	LOC130006061, RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Nov 23, 2021)	criteria provided, single submitter
Select item 156677198.	NM_032193.4(RNASEH2C):c.469-12C>A GRCh37: Chr11:65487292 GRCh38: Chr11:65719821	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 155628799.	NM_032193.4(RNASEH2C):c.261A>G (p.Glu87=) GRCh37: Chr11:65487800 GRCh38: Chr11:65720329	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 1556149100.	NM_032193.4(RNASEH2C):c.33G>A (p.Arg11=) GRCh37: Chr11:65488197 GRCh38: Chr11:65720726	RNASEH2C		Aicardi-Goutieres syndrome 3	Likely benign (Nov 11, 2021)	criteria provided, single submitter

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