ClinVar for MedGen (Select 854829) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25028351.	NM_022168.4(IFIH1):c.2304+1G>T GRCh37: Chr2:163133196 GRCh38: Chr2:162276686	IFIH1		Aicardi-Goutieres syndrome 7	Likely pathogenic	criteria provided, single submitter
Select item 24218912.	NM_022168.4(IFIH1):c.1342_1343del (p.Thr448fs) GRCh37: Chr2:163138019-163138020 GRCh38: Chr2:162281509-162281510	IFIH1	T448fs	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 24211153.	NM_022168.4(IFIH1):c.768A>G (p.Ser256=) GRCh37: Chr2:163163220 GRCh38: Chr2:162306710	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 22024054.	NM_022168.4(IFIH1):c.875-20T>C GRCh37: Chr2:163144885 GRCh38: Chr2:162288375	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 22002595.	NM_022168.4(IFIH1):c.699G>A (p.Leu233=) GRCh37: Chr2:163163289 GRCh38: Chr2:162306779	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 21992386.	NM_022168.4(IFIH1):c.1774G>A (p.Glu592Lys) GRCh37: Chr2:163134195 GRCh38: Chr2:162277685	IFIH1	E592K	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 21986967.	NM_022168.4(IFIH1):c.147A>T (p.Thr49=) GRCh37: Chr2:163174671 GRCh38: Chr2:162318161	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 21978298.	NM_022168.4(IFIH1):c.926G>C (p.Arg309Thr) GRCh37: Chr2:163144814 GRCh38: Chr2:162288304	IFIH1	R309T	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 21971579.	NM_022168.4(IFIH1):c.413G>T (p.Cys138Phe) GRCh37: Chr2:163174405 GRCh38: Chr2:162317895	IFIH1	C138F	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 219624210.	NM_022168.4(IFIH1):c.2045-7C>A GRCh37: Chr2:163133463 GRCh38: Chr2:162276953	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 219623911.	NM_022168.4(IFIH1):c.2485A>C (p.Thr829Pro) GRCh37: Chr2:163128867 GRCh38: Chr2:162272357	IFIH1	T829P	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 219508612.	NM_022168.4(IFIH1):c.149T>G (p.Val50Gly) GRCh37: Chr2:163174669 GRCh38: Chr2:162318159	IFIH1	V50G	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 219445013.	NM_022168.4(IFIH1):c.1783C>A (p.Arg595Ser) GRCh37: Chr2:163134186 GRCh38: Chr2:162277676	IFIH1	R595S	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 219107714.	NM_022168.4(IFIH1):c.289C>A (p.Pro97Thr) GRCh37: Chr2:163174529 GRCh38: Chr2:162318019	IFIH1	P97T	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219080115.	NM_022168.4(IFIH1):c.2898+20C>G GRCh37: Chr2:163123969 GRCh38: Chr2:162267459	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 218896016.	NM_022168.4(IFIH1):c.1150T>C (p.Trp384Arg) GRCh37: Chr2:163139032 GRCh38: Chr2:162282522	IFIH1	W384R	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 218699117.	NM_022168.4(IFIH1):c.2070G>C (p.Leu690=) GRCh37: Chr2:163133431 GRCh38: Chr2:162276921	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 218341018.	NM_022168.4(IFIH1):c.743C>G (p.Ser248Cys) GRCh37: Chr2:163163245 GRCh38: Chr2:162306735	IFIH1	S248C	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 218298719.	NM_022168.4(IFIH1):c.1525-9C>G GRCh37: Chr2:163136631 GRCh38: Chr2:162280121	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 218003420.	NM_022168.4(IFIH1):c.1769C>T (p.Ala590Val) GRCh37: Chr2:163134200 GRCh38: Chr2:162277690	IFIH1	A590V	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 218000821.	NM_022168.4(IFIH1):c.2847G>C (p.Lys949Asn) GRCh37: Chr2:163124040 GRCh38: Chr2:162267530	IFIH1	K949N	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 217851422.	NM_022168.4(IFIH1):c.2280del (p.Ser760fs) GRCh37: Chr2:163133221 GRCh38: Chr2:162276711	IFIH1	S760fs	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 217807823.	NM_022168.4(IFIH1):c.1555A>C (p.Lys519Gln) GRCh37: Chr2:163136592 GRCh38: Chr2:162280082	IFIH1	K519Q	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 217390524.	NM_022168.4(IFIH1):c.1487C>A (p.Ala496Asp) GRCh37: Chr2:163137875 GRCh38: Chr2:162281365	IFIH1	A496D	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 217348525.	NM_022168.4(IFIH1):c.2898+15G>A GRCh37: Chr2:163123974 GRCh38: Chr2:162267464	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 216758026.	NM_022168.4(IFIH1):c.2942G>T (p.Cys981Phe) GRCh37: Chr2:163123846 GRCh38: Chr2:162267336	IFIH1	C981F	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 216626827.	NM_022168.4(IFIH1):c.1936G>C (p.Asp646His) GRCh37: Chr2:163134033 GRCh38: Chr2:162277523	IFIH1	D646H	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 216346928.	NM_022168.4(IFIH1):c.195C>G (p.Thr65=) GRCh37: Chr2:163174623 GRCh38: Chr2:162318113	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 216128529.	NM_022168.4(IFIH1):c.1395G>A (p.Lys465=) GRCh37: Chr2:163137967 GRCh38: Chr2:162281457	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 216072730.	NM_022168.4(IFIH1):c.523G>A (p.Glu175Lys) GRCh37: Chr2:163167374 GRCh38: Chr2:162310864	IFIH1	E175K	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 215892831.	NM_022168.4(IFIH1):c.2616+7T>C GRCh37: Chr2:163128729 GRCh38: Chr2:162272219	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 215809932.	NM_022168.4(IFIH1):c.1679G>A (p.Arg560Lys) GRCh37: Chr2:163134801 GRCh38: Chr2:162278291	IFIH1	R560K	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 215780133.	NM_022168.4(IFIH1):c.2898+19G>C GRCh37: Chr2:163123970 GRCh38: Chr2:162267460	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 215719934.	NM_022168.4(IFIH1):c.1765+17C>T GRCh37: Chr2:163134698 GRCh38: Chr2:162278188	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 215683435.	NM_022168.4(IFIH1):c.3000C>T (p.Tyr1000=) GRCh37: Chr2:163123788 GRCh38: Chr2:162267278	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 215578836.	NM_022168.4(IFIH1):c.937del (p.Met313fs) GRCh37: Chr2:163144803 GRCh38: Chr2:162288293	IFIH1	M313fs	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 215320837.	NM_022168.4(IFIH1):c.1728A>G (p.Gln576=) GRCh37: Chr2:163134752 GRCh38: Chr2:162278242	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 214880138.	NM_022168.4(IFIH1):c.1449G>C (p.Gln483His) GRCh37: Chr2:163137913 GRCh38: Chr2:162281403	IFIH1	Q483H	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 214596139.	NM_022168.4(IFIH1):c.1173T>C (p.Ser391=) GRCh37: Chr2:163139009 GRCh38: Chr2:162282499	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 213962340.	NM_022168.4(IFIH1):c.194C>G (p.Thr65Ser) GRCh37: Chr2:163174624 GRCh38: Chr2:162318114	IFIH1	T65S	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases	Uncertain significance (Mar 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213946841.	NM_022168.4(IFIH1):c.2102T>A (p.Leu701Gln) GRCh37: Chr2:163133399 GRCh38: Chr2:162276889	IFIH1	L701Q	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 213481042.	NM_022168.4(IFIH1):c.2704C>T (p.Leu902=) GRCh37: Chr2:163124700 GRCh38: Chr2:162268190	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 213454043.	NM_022168.4(IFIH1):c.2044+7T>G GRCh37: Chr2:163133918 GRCh38: Chr2:162277408	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 213353144.	NM_022168.4(IFIH1):c.489T>A (p.Gly163=) GRCh37: Chr2:163167408 GRCh38: Chr2:162310898	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213330745.	NM_022168.4(IFIH1):c.2574A>G (p.Ile858Met) GRCh37: Chr2:163128778 GRCh38: Chr2:162272268	IFIH1	I858M	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213263446.	NM_022168.4(IFIH1):c.337G>T (p.Glu113Ter) GRCh37: Chr2:163174481 GRCh38: Chr2:162317971	IFIH1	E113*	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 213172847.	NM_022168.4(IFIH1):c.2979T>C (p.Asn993=) GRCh37: Chr2:163123809 GRCh38: Chr2:162267299	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 213129348.	NM_022168.4(IFIH1):c.1095+4T>C GRCh37: Chr2:163144641 GRCh38: Chr2:162288131	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 213095349.	NM_022168.4(IFIH1):c.1599G>A (p.Gln533=) GRCh37: Chr2:163136548 GRCh38: Chr2:162280038	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 213067050.	NM_022168.4(IFIH1):c.2454+4C>A GRCh37: Chr2:163130301 GRCh38: Chr2:162273791	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 212902751.	NM_022168.4(IFIH1):c.250C>G (p.Arg84Gly) GRCh37: Chr2:163174568 GRCh38: Chr2:162318058	IFIH1	R84G	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 212817652.	NM_022168.4(IFIH1):c.240G>A (p.Val80=) GRCh37: Chr2:163174578 GRCh38: Chr2:162318068	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 212770653.	NM_022168.4(IFIH1):c.3050A>G (p.Glu1017Gly) GRCh37: Chr2:163123738 GRCh38: Chr2:162267228	IFIH1	E1017G	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212547154.	NM_022168.4(IFIH1):c.2339C>G (p.Thr780Ser) GRCh37: Chr2:163130420 GRCh38: Chr2:162273910	IFIH1	T780S	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 212526555.	NM_022168.4(IFIH1):c.313_314delinsGA (p.Pro105Glu) GRCh37: Chr2:163174504-163174505 GRCh38: Chr2:162317994-162317995	IFIH1	P105E	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212495356.	NM_022168.4(IFIH1):c.416T>C (p.Met139Thr) GRCh37: Chr2:163174402 GRCh38: Chr2:162317892	IFIH1	M139T	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 212414657.	NM_022168.4(IFIH1):c.2037_2042dup (p.Phe680_Phe681insLeuPhe) GRCh37: Chr2:163133926-163133927 GRCh38: Chr2:162277416-162277417	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 212217558.	NM_022168.4(IFIH1):c.3042C>T (p.Asp1014=) GRCh37: Chr2:163123746 GRCh38: Chr2:162267236	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 212153159.	NM_022168.4(IFIH1):c.1181C>A (p.Thr394Asn) GRCh37: Chr2:163139001 GRCh38: Chr2:162282491	IFIH1	T394N	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 212071460.	NM_022168.4(IFIH1):c.1652A>C (p.Lys551Thr) GRCh37: Chr2:163134828 GRCh38: Chr2:162278318	IFIH1	K551T	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211739561.	NM_022168.4(IFIH1):c.2798del (p.Pro933fs) GRCh37: Chr2:163124606 GRCh38: Chr2:162268096	IFIH1	P933fs	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 211708862.	NM_022168.4(IFIH1):c.2691G>A (p.Lys897=) GRCh37: Chr2:163124713 GRCh38: Chr2:162268203	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211481463.	NM_022168.4(IFIH1):c.64G>A (p.Val22Met) GRCh37: Chr2:163174754 GRCh38: Chr2:162318244	IFIH1	V22M	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211451664.	NM_022168.4(IFIH1):c.1545A>G (p.Ala515=) GRCh37: Chr2:163136602 GRCh38: Chr2:162280092	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 211433165.	NM_022168.4(IFIH1):c.2181A>G (p.Thr727=) GRCh37: Chr2:163133320 GRCh38: Chr2:162276810	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 211120266.	NM_022168.4(IFIH1):c.2569G>C (p.Ala857Pro) GRCh37: Chr2:163128783 GRCh38: Chr2:162272273	IFIH1	A857P	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 211002667.	NM_022168.4(IFIH1):c.1844A>G (p.Asp615Gly) GRCh37: Chr2:163134125 GRCh38: Chr2:162277615	IFIH1	D615G	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 210977968.	NM_022168.4(IFIH1):c.2816del (p.Tyr939fs) GRCh37: Chr2:163124071 GRCh38: Chr2:162267561	IFIH1	Y939fs	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 210975669.	NM_022168.4(IFIH1):c.1499C>G (p.Ala500Gly) GRCh37: Chr2:163137863 GRCh38: Chr2:162281353	IFIH1	A500G	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210860670.	NM_022168.4(IFIH1):c.1524+20A>G GRCh37: Chr2:163137818 GRCh38: Chr2:162281308	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 210744871.	NM_022168.4(IFIH1):c.1069G>A (p.Gly357Arg) GRCh37: Chr2:163144671 GRCh38: Chr2:162288161	IFIH1	G357R	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 210696272.	NM_022168.4(IFIH1):c.524A>C (p.Glu175Ala) GRCh37: Chr2:163167373 GRCh38: Chr2:162310863	IFIH1	E175A	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 210675973.	NM_022168.4(IFIH1):c.2932G>C (p.Asp978His) GRCh37: Chr2:163123856 GRCh38: Chr2:162267346	IFIH1	D978H	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 210666474.	NM_022168.4(IFIH1):c.927G>A (p.Arg309=) GRCh37: Chr2:163144813 GRCh38: Chr2:162288303	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 210652375.	NM_022168.4(IFIH1):c.1515C>T (p.His505=) GRCh37: Chr2:163137847 GRCh38: Chr2:162281337	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 210607276.	NM_022168.4(IFIH1):c.1457G>A (p.Gly486Glu) GRCh37: Chr2:163137905 GRCh38: Chr2:162281395	IFIH1	G486E	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210519077.	NM_022168.4(IFIH1):c.2542G>A (p.Asp848Asn) GRCh37: Chr2:163128810 GRCh38: Chr2:162272300	IFIH1	D848N	not provided, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210501778.	NM_022168.4(IFIH1):c.1156C>T (p.Arg386Cys) GRCh37: Chr2:163139026 GRCh38: Chr2:162282516	IFIH1	R386C	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 210381279.	NM_022168.4(IFIH1):c.19A>G (p.Thr7Ala) GRCh37: Chr2:163174799 GRCh38: Chr2:162318289	IFIH1	T7A	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 210294380.	NM_022168.4(IFIH1):c.1642-3del GRCh37: Chr2:163134841 GRCh38: Chr2:162278331	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Benign (Jun 8, 2022)	criteria provided, single submitter
Select item 210294281.	NM_022168.4(IFIH1):c.1650T>A (p.Phe550Leu) GRCh37: Chr2:163134830 GRCh38: Chr2:162278320	IFIH1	F550L	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 210294182.	NM_022168.4(IFIH1):c.1653_1665del (p.Glu552fs) GRCh37: Chr2:163134815-163134827 GRCh38: Chr2:162278305-162278317	IFIH1	E552fs	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 210290983.	NM_022168.4(IFIH1):c.1583T>C (p.Leu528Pro) GRCh37: Chr2:163136564 GRCh38: Chr2:162280054	IFIH1	L528P	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 210278984.	NM_022168.4(IFIH1):c.865A>G (p.Ser289Gly) GRCh37: Chr2:163150083 GRCh38: Chr2:162293573	IFIH1	S289G	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 210182285.	NM_022168.4(IFIH1):c.1250T>A (p.Leu417His) GRCh37: Chr2:163138932 GRCh38: Chr2:162282422	IFIH1	L417H	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209913986.	NM_022168.4(IFIH1):c.601G>A (p.Asp201Asn) GRCh37: Chr2:163167296 GRCh38: Chr2:162310786	IFIH1	D201N	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 209866587.	NM_022168.4(IFIH1):c.364C>T (p.Gln122Ter) GRCh37: Chr2:163174454 GRCh38: Chr2:162317944	IFIH1	Q122*	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209745688.	NM_022168.4(IFIH1):c.2535A>C (p.Thr845=) GRCh37: Chr2:163128817 GRCh38: Chr2:162272307	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Feb 13, 2022)	criteria provided, single submitter
Select item 209534789.	NM_022168.4(IFIH1):c.921G>A (p.Gln307=) GRCh37: Chr2:163144819 GRCh38: Chr2:162288309	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 209472390.	NM_022168.4(IFIH1):c.1306+11G>A GRCh37: Chr2:163138865 GRCh38: Chr2:162282355	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209436891.	NM_022168.4(IFIH1):c.2898G>C (p.Gln966His) GRCh37: Chr2:163123989 GRCh38: Chr2:162267479	IFIH1	Q966H	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 209397592.	NM_022168.4(IFIH1):c.2783_2784delinsG (p.His928fs) GRCh37: Chr2:163124620-163124621 GRCh38: Chr2:162268110-162268111	IFIH1	H928fs	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 209360993.	NM_022168.4(IFIH1):c.3069T>C (p.Asp1023=) GRCh37: Chr2:163123719 GRCh38: Chr2:162267209	IFIH1		Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 209236894.	NM_022168.4(IFIH1):c.1261C>T (p.Leu421Phe) GRCh37: Chr2:163138921 GRCh38: Chr2:162282411	IFIH1	L421F	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 209094695.	NM_022168.4(IFIH1):c.322G>A (p.Glu108Lys) GRCh37: Chr2:163174496 GRCh38: Chr2:162317986	IFIH1	E108K	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 208817996.	NM_022168.4(IFIH1):c.1952A>G (p.Asp651Gly) GRCh37: Chr2:163134017 GRCh38: Chr2:162277507	IFIH1	D651G	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 208701097.	NM_022168.4(IFIH1):c.1642-16T>C GRCh37: Chr2:163134854 GRCh38: Chr2:162278344	IFIH1		Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 208589998.	NM_022168.4(IFIH1):c.2777T>C (p.Met926Thr) GRCh37: Chr2:163124627 GRCh38: Chr2:162268117	IFIH1	M926T	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 208412099.	NM_022168.4(IFIH1):c.2859C>G (p.Asp953Glu) GRCh37: Chr2:163124028 GRCh38: Chr2:162267518	IFIH1	D953E	Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 2083414100.	NM_022168.4(IFIH1):c.1847C>T (p.Thr616Ile) GRCh37: Chr2:163134122 GRCh38: Chr2:162277612	IFIH1	T616I	Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter

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