ClinVar for MedGen (Select 483677) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 331

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25853461.	NM_024570.4(RNASEH2B):c.162T>A (p.Asn54Lys) GRCh37: Chr13:51503636 GRCh38: Chr13:50929500	RNASEH2B	N54K	Aicardi-Goutieres syndrome 2	Uncertain significance	criteria provided, single submitter
Select item 25730062.	NM_024570.4(RNASEH2B):c.64+2_64+6del GRCh37: Chr13:51484278-51484282 GRCh38: Chr13:50910142-50910146	LOC130009810, RNASEH2B, RNASEH2B-AS1		Aicardi-Goutieres syndrome 2	Likely pathogenic (Jan 9, 2023)	criteria provided, single submitter
Select item 24268323.	NC_000013.10:g.(?_51501523)_(51530610_?)del GRCh37: Chr13:51501523-51530610	RNASEH2B		Aicardi-Goutieres syndrome 2	Pathogenic (Nov 1, 2021)	criteria provided, single submitter
Select item 24268314.	NC_000013.10:g.(?_51484213)_(51484296_?)del GRCh37: Chr13:51484213-51484296	RNASEH2B		Aicardi-Goutieres syndrome 2	Pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 24202825.	NM_024570.4(RNASEH2B):c.137-13T>G GRCh37: Chr13:51503598 GRCh38: Chr13:50929462	RNASEH2B		Aicardi-Goutieres syndrome 2	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 22724396.	NM_024570.4(RNASEH2B):c.271G>A (p.Val91Met) GRCh37: Chr13:51504845 GRCh38: Chr13:50930709	RNASEH2B	V91M	Inborn genetic diseases, Aicardi-Goutieres syndrome 2	Conflicting interpretations of pathogenicity (Jul 29, 2022)	criteria provided, conflicting interpretations
Select item 21873187.	NM_024570.4(RNASEH2B):c.511-22_511-20delinsGAA GRCh37: Chr13:51519541-51519543 GRCh38: Chr13:50945405-50945407	RNASEH2B		Aicardi-Goutieres syndrome 2	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 21614388.	NM_024570.4(RNASEH2B):c.767T>C (p.Val256Ala) GRCh37: Chr13:51528066 GRCh38: Chr13:50953930	RNASEH2B	V256A	Aicardi-Goutieres syndrome 2	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 21375049.	NM_024570.4(RNASEH2B):c.128C>A (p.Pro43His) GRCh37: Chr13:51501606 GRCh38: Chr13:50927470	RNASEH2B	P43H	Aicardi-Goutieres syndrome 2	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 213273910.	NM_024570.4(RNASEH2B):c.137-4A>C GRCh37: Chr13:51503607 GRCh38: Chr13:50929471	RNASEH2B		Aicardi-Goutieres syndrome 2	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213236211.	NC_000013.11:g.50929475_50929477del GRCh37: Chr13:51503609-51503611 GRCh38: Chr13:50929473-50929475	RNASEH2B		Aicardi-Goutieres syndrome 2	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 213198212.	NM_024570.4(RNASEH2B):c.321G>A (p.Glu107=) GRCh37: Chr13:51504895 GRCh38: Chr13:50930759	RNASEH2B		Aicardi-Goutieres syndrome 2	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 213120813.	NM_024570.4(RNASEH2B):c.511-9G>A GRCh37: Chr13:51519554 GRCh38: Chr13:50945418	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 213000714.	NM_024570.4(RNASEH2B):c.456C>T (p.Asn152=) GRCh37: Chr13:51517476 GRCh38: Chr13:50943340	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 212839915.	NM_024570.4(RNASEH2B):c.580T>C (p.Phe194Leu) GRCh37: Chr13:51519632 GRCh38: Chr13:50945496	RNASEH2B	F194L	Aicardi-Goutieres syndrome 2	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 212675616.	NM_024570.4(RNASEH2B):c.510+12C>T GRCh37: Chr13:51517542 GRCh38: Chr13:50943406	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 212134617.	NM_024570.4(RNASEH2B):c.822+9G>A GRCh37: Chr13:51528130 GRCh38: Chr13:50953994	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 212061518.	NM_024570.4(RNASEH2B):c.616+10G>T GRCh37: Chr13:51519678 GRCh38: Chr13:50945542	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 211792319.	NM_024570.4(RNASEH2B):c.156G>T (p.Leu52Phe) GRCh37: Chr13:51503630 GRCh38: Chr13:50929494	RNASEH2B	L52F	Aicardi-Goutieres syndrome 2, Inborn genetic diseases	Uncertain significance (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211714620.	NM_024570.4(RNASEH2B):c.911A>T (p.Lys304Ile) GRCh37: Chr13:51530582 GRCh38: Chr13:50956446	RNASEH2B	K304I	Aicardi-Goutieres syndrome 2	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211666221.	NM_024570.4(RNASEH2B):c.29G>C (p.Gly10Ala) GRCh37: Chr13:51484241 GRCh38: Chr13:50910105	LOC130009810, RNASEH2B, RNASEH2B-AS1	G10A	Aicardi-Goutieres syndrome 2	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 211447822.	NM_024570.4(RNASEH2B):c.742-1_742delinsAC GRCh37: Chr13:51528040-51528041 GRCh38: Chr13:50953904-50953905	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely pathogenic (Nov 19, 2021)	criteria provided, single submitter
Select item 211442623.	NM_024570.4(RNASEH2B):c.365T>G (p.Phe122Cys) GRCh37: Chr13:51509064 GRCh38: Chr13:50934928	RNASEH2B	F122C	Aicardi-Goutieres syndrome 2	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 211383624.	NM_024570.4(RNASEH2B):c.723G>C (p.Leu241Phe) GRCh37: Chr13:51523623 GRCh38: Chr13:50949487	RNASEH2B	L241F	Aicardi-Goutieres syndrome 2	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 210670725.	NM_024570.4(RNASEH2B):c.607G>C (p.Asp203His) GRCh37: Chr13:51519659 GRCh38: Chr13:50945523	RNASEH2B	D203H	Aicardi-Goutieres syndrome 2	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 210601826.	NM_024570.4(RNASEH2B):c.26A>T (p.Asp9Val) GRCh37: Chr13:51484238 GRCh38: Chr13:50910102	LOC130009810, RNASEH2B, RNASEH2B-AS1	D9V	Aicardi-Goutieres syndrome 2	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 210393927.	NM_024570.4(RNASEH2B):c.16G>T (p.Asp6Tyr) GRCh37: Chr13:51484228 GRCh38: Chr13:50910092	LOC130009810, RNASEH2B, RNASEH2B-AS1	D6Y	Aicardi-Goutieres syndrome 2	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 210329128.	NM_024570.4(RNASEH2B):c.64+3A>G GRCh37: Chr13:51484279 GRCh38: Chr13:50910143	LOC130009810, RNASEH2B, RNASEH2B-AS1		Aicardi-Goutieres syndrome 2	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 209551129.	NM_024570.4(RNASEH2B):c.223A>G (p.Ile75Val) GRCh37: Chr13:51503697 GRCh38: Chr13:50929561	RNASEH2B	I75V	Aicardi-Goutieres syndrome 2	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 209481230.	NM_024570.4(RNASEH2B):c.352G>T (p.Val118Leu) GRCh37: Chr13:51509051 GRCh38: Chr13:50934915	RNASEH2B	V118L	Aicardi-Goutieres syndrome 2	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 209179031.	NM_024570.4(RNASEH2B):c.244+6T>C GRCh37: Chr13:51503724 GRCh38: Chr13:50929588	RNASEH2B		Aicardi-Goutieres syndrome 2	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 208695132.	NM_024570.4(RNASEH2B):c.823-18T>G GRCh37: Chr13:51530476 GRCh38: Chr13:50956340	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 208691533.	NM_024570.4(RNASEH2B):c.520A>G (p.Thr174Ala) GRCh37: Chr13:51519572 GRCh38: Chr13:50945436	RNASEH2B	T174A	Aicardi-Goutieres syndrome 2	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 208145934.	NM_024570.4(RNASEH2B):c.322-14_322-11del GRCh37: Chr13:51509003-51509006 GRCh38: Chr13:50934867-50934870	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 207738635.	NM_024570.4(RNASEH2B):c.823-18_823-15del GRCh37: Chr13:51530476-51530479 GRCh38: Chr13:50956340-50956343	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 207151536.	NM_024570.4(RNASEH2B):c.617-19C>T GRCh37: Chr13:51522104 GRCh38: Chr13:50947968	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 207081837.	NM_024570.4(RNASEH2B):c.437-18T>A GRCh37: Chr13:51517439 GRCh38: Chr13:50943303	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 206814238.	NM_024570.4(RNASEH2B):c.322-15dup GRCh37: Chr13:51509005-51509006 GRCh38: Chr13:50934869-50934870	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 206668239.	NM_024570.4(RNASEH2B):c.299A>G (p.Tyr100Cys) GRCh37: Chr13:51504873 GRCh38: Chr13:50930737	RNASEH2B	Y100C	Aicardi-Goutieres syndrome 2	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 206244140.	NM_024570.4(RNASEH2B):c.616+2dup GRCh37: Chr13:51519669-51519670 GRCh38: Chr13:50945533-50945534	RNASEH2B		Aicardi-Goutieres syndrome 2	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 206238641.	NM_024570.4(RNASEH2B):c.616+12A>G GRCh37: Chr13:51519680 GRCh38: Chr13:50945544	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 206074342.	NM_024570.4(RNASEH2B):c.444A>G (p.Pro148=) GRCh37: Chr13:51517464 GRCh38: Chr13:50943328	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 205471843.	NM_024570.4(RNASEH2B):c.345A>C (p.Gln115His) GRCh37: Chr13:51509044 GRCh38: Chr13:50934908	RNASEH2B	Q115H	Aicardi-Goutieres syndrome 2	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 205105044.	NM_024570.4(RNASEH2B):c.245-5T>C GRCh37: Chr13:51504814 GRCh38: Chr13:50930678	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 204389845.	NM_024570.4(RNASEH2B):c.598G>A (p.Ala200Thr) GRCh37: Chr13:51519650 GRCh38: Chr13:50945514	RNASEH2B	A200T	Aicardi-Goutieres syndrome 2	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 203510846.	NM_024570.4(RNASEH2B):c.234A>G (p.Ser78=) GRCh37: Chr13:51503708 GRCh38: Chr13:50929572	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 203504447.	NM_024570.4(RNASEH2B):c.741+8G>T GRCh37: Chr13:51523649 GRCh38: Chr13:50949513	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 203421848.	NM_024570.4(RNASEH2B):c.510+19G>A GRCh37: Chr13:51517549 GRCh38: Chr13:50943413	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 203363549.	NM_024570.4(RNASEH2B):c.699-10A>T GRCh37: Chr13:51523589 GRCh38: Chr13:50949453	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 203347650.	NM_024570.4(RNASEH2B):c.468C>T (p.Tyr156=) GRCh37: Chr13:51517488 GRCh38: Chr13:50943352	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 202685551.	NM_024570.4(RNASEH2B):c.132T>C (p.Cys44=) GRCh37: Chr13:51501610 GRCh38: Chr13:50927474	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 202482652.	NM_024570.4(RNASEH2B):c.741+6A>G GRCh37: Chr13:51523647 GRCh38: Chr13:50949511	RNASEH2B		Aicardi-Goutieres syndrome 2	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 201696853.	NM_024570.4(RNASEH2B):c.64+11G>A GRCh37: Chr13:51484287 GRCh38: Chr13:50910151	LOC130009810, RNASEH2B, RNASEH2B-AS1		Aicardi-Goutieres syndrome 2	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 201367354.	NM_024570.4(RNASEH2B):c.137-17_137-14del GRCh37: Chr13:51503591-51503594 GRCh38: Chr13:50929455-50929458	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 201348055.	NM_024570.4(RNASEH2B):c.327G>A (p.Lys109=) GRCh37: Chr13:51509026 GRCh38: Chr13:50934890	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 200734156.	NM_024570.4(RNASEH2B):c.322-15T>C GRCh37: Chr13:51509006 GRCh38: Chr13:50934870	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 200390757.	NM_024570.4(RNASEH2B):c.467A>G (p.Tyr156Cys) GRCh37: Chr13:51517487 GRCh38: Chr13:50943351	RNASEH2B	Y156C	Aicardi-Goutieres syndrome 2	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 200210358.	NM_024570.4(RNASEH2B):c.64+7_64+8del GRCh37: Chr13:51484281-51484282 GRCh38: Chr13:50910145-50910146	LOC130009810, RNASEH2B, RNASEH2B-AS1		Aicardi-Goutieres syndrome 2	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 200056659.	NM_024570.4(RNASEH2B):c.617-6T>A GRCh37: Chr13:51522117 GRCh38: Chr13:50947981	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 199989060.	NM_024570.4(RNASEH2B):c.698+1G>C GRCh37: Chr13:51522205 GRCh38: Chr13:50948069	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely pathogenic (May 28, 2022)	criteria provided, single submitter
Select item 199169261.	NM_024570.4(RNASEH2B):c.870C>T (p.Asp290=) GRCh37: Chr13:51530541 GRCh38: Chr13:50956405	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 198494862.	NM_024570.4(RNASEH2B):c.436+6G>C GRCh37: Chr13:51509141 GRCh38: Chr13:50935005	RNASEH2B		Aicardi-Goutieres syndrome 2	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 198448863.	NM_024570.4(RNASEH2B):c.741+20A>G GRCh37: Chr13:51523661 GRCh38: Chr13:50949525	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 198431164.	NM_024570.4(RNASEH2B):c.914dup (p.Asn305fs) GRCh37: Chr13:51530579-51530580 GRCh38: Chr13:50956443-50956444	RNASEH2B	N305fs	Aicardi-Goutieres syndrome 2	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 197982365.	NM_024570.4(RNASEH2B):c.269C>G (p.Pro90Arg) GRCh37: Chr13:51504843 GRCh38: Chr13:50930707	RNASEH2B	P90R	Aicardi-Goutieres syndrome 2	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 197025966.	NM_024570.4(RNASEH2B):c.96A>G (p.Lys32=) GRCh37: Chr13:51501574 GRCh38: Chr13:50927438	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 196926367.	NM_024570.4(RNASEH2B):c.890T>C (p.Ile297Thr) GRCh37: Chr13:51530561 GRCh38: Chr13:50956425	RNASEH2B	I297T	Aicardi-Goutieres syndrome 2	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 196879468.	NM_024570.4(RNASEH2B):c.822+14G>A GRCh37: Chr13:51528135 GRCh38: Chr13:50953999	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 196627569.	NM_024570.4(RNASEH2B):c.597A>G (p.Gln199=) GRCh37: Chr13:51519649 GRCh38: Chr13:50945513	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 196362570.	NM_024570.4(RNASEH2B):c.698+13T>A GRCh37: Chr13:51522217 GRCh38: Chr13:50948081	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 196353471.	NM_024570.4(RNASEH2B):c.843A>C (p.Ala281=) GRCh37: Chr13:51530514 GRCh38: Chr13:50956378	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 195520172.	NM_024570.4(RNASEH2B):c.126C>T (p.Asn42=) GRCh37: Chr13:51501604 GRCh38: Chr13:50927468	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 195413273.	NM_024570.4(RNASEH2B):c.321+16_321+17dup GRCh37: Chr13:51504910-51504911 GRCh38: Chr13:50930774-50930775	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 194807474.	NM_024570.4(RNASEH2B):c.121G>A (p.Val41Ile) GRCh37: Chr13:51501599 GRCh38: Chr13:50927463	RNASEH2B	V41I	Aicardi-Goutieres syndrome 2	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 194360075.	NM_024570.4(RNASEH2B):c.483G>A (p.Glu161=) GRCh37: Chr13:51517503 GRCh38: Chr13:50943367	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 193885576.	NM_024570.4(RNASEH2B):c.575C>T (p.Thr192Ile) GRCh37: Chr13:51519627 GRCh38: Chr13:50945491	RNASEH2B	T192I	Aicardi-Goutieres syndrome 2	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 193333277.	NM_024570.4(RNASEH2B):c.322-2A>T GRCh37: Chr13:51509019 GRCh38: Chr13:50934883	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 193212378.	NM_024570.4(RNASEH2B):c.742-13T>C GRCh37: Chr13:51528028 GRCh38: Chr13:50953892	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 193138679.	NM_024570.4(RNASEH2B):c.31G>T (p.Val11Phe) GRCh37: Chr13:51484243 GRCh38: Chr13:50910107	LOC130009810, RNASEH2B, RNASEH2B-AS1	V11F	Aicardi-Goutieres syndrome 2	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 193018980.	NM_024570.4(RNASEH2B):c.150T>C (p.Ile50=) GRCh37: Chr13:51503624 GRCh38: Chr13:50929488	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 191406381.	NM_024570.4(RNASEH2B):c.322-9T>G GRCh37: Chr13:51509012 GRCh38: Chr13:50934876	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 190439282.	NM_024570.4(RNASEH2B):c.79G>A (p.Ala27Thr) GRCh37: Chr13:51501557 GRCh38: Chr13:50927421	RNASEH2B	A27T	Aicardi-Goutieres syndrome 2	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 190319383.	NM_024570.4(RNASEH2B):c.677A>T (p.Asp226Val) GRCh37: Chr13:51522183 GRCh38: Chr13:50948047	RNASEH2B	D226V	Aicardi-Goutieres syndrome 2	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 190300184.	NM_024570.4(RNASEH2B):c.437-9T>C GRCh37: Chr13:51517448 GRCh38: Chr13:50943312	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 181019885.	NM_024570.4(RNASEH2B):c.322-17A>G GRCh37: Chr13:51509004 GRCh38: Chr13:50934868	RNASEH2B		Aicardi-Goutieres syndrome 2	Uncertain significance (May 20, 2021)	criteria provided, single submitter
Select item 171645686.	NM_024570.4(RNASEH2B):c.556A>G (p.Ser186Gly) GRCh37: Chr13:51519608 GRCh38: Chr13:50945472	RNASEH2B	S186G	Aicardi-Goutieres syndrome 2	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 171413587.	NM_024570.4(RNASEH2B):c.715G>T (p.Ala239Ser) GRCh37: Chr13:51523615 GRCh38: Chr13:50949479	RNASEH2B	A239S	Aicardi-Goutieres syndrome 2	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 171399888.	NM_024570.4(RNASEH2B):c.849G>C (p.Gln283His) GRCh37: Chr13:51530520 GRCh38: Chr13:50956384	RNASEH2B	Q283H	Aicardi-Goutieres syndrome 2	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 167365289.	NM_024570.4(RNASEH2B):c.64+16C>T GRCh37: Chr13:51484292 GRCh38: Chr13:50910156	LOC130009810, RNASEH2B, RNASEH2B-AS1		Aicardi-Goutieres syndrome 2	Likely benign (Jul 9, 2021)	criteria provided, single submitter
Select item 167168190.	NM_024570.4(RNASEH2B):c.564G>C (p.Arg188=) GRCh37: Chr13:51519616 GRCh38: Chr13:50945480	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 167101091.	NM_024570.4(RNASEH2B):c.55C>T (p.Leu19=) GRCh37: Chr13:51484267 GRCh38: Chr13:50910131	LOC130009810, RNASEH2B, RNASEH2B-AS1		Aicardi-Goutieres syndrome 2	Likely benign (Jul 5, 2021)	criteria provided, single submitter
Select item 166266392.	NM_024570.4(RNASEH2B):c.321+13C>T GRCh37: Chr13:51504908 GRCh38: Chr13:50930772	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 166069393.	NM_024570.4(RNASEH2B):c.321+15C>T GRCh37: Chr13:51504910 GRCh38: Chr13:50930774	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 165984694.	NM_024570.4(RNASEH2B):c.245-12T>G GRCh37: Chr13:51504807 GRCh38: Chr13:50930671	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 165797895.	NM_024570.4(RNASEH2B):c.742-12C>T GRCh37: Chr13:51528029 GRCh38: Chr13:50953893	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (May 12, 2021)	criteria provided, single submitter
Select item 165508596.	NM_024570.4(RNASEH2B):c.137-19G>C GRCh37: Chr13:51503592 GRCh38: Chr13:50929456	RNASEH2B		Aicardi-Goutieres syndrome 2	Benign (Oct 19, 2022)	criteria provided, single submitter
Select item 164439297.	NM_024570.4(RNASEH2B):c.321+16G>A GRCh37: Chr13:51504911 GRCh38: Chr13:50930775	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 164203898.	NM_024570.4(RNASEH2B):c.30G>A (p.Gly10=) GRCh37: Chr13:51484242 GRCh38: Chr13:50910106	LOC130009810, RNASEH2B, RNASEH2B-AS1		Aicardi-Goutieres syndrome 2	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 164182399.	NM_024570.4(RNASEH2B):c.177G>A (p.Gln59=) GRCh37: Chr13:51503651 GRCh38: Chr13:50929515	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 1635858100.	NM_024570.4(RNASEH2B):c.616+16T>C GRCh37: Chr13:51519684 GRCh38: Chr13:50945548	RNASEH2B		Aicardi-Goutieres syndrome 2	Likely benign (Nov 27, 2021)	criteria provided, single submitter

<< First< Prev

Page of 4