ClinVar for MedGen (Select 1684759) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24443631.	NM_001370466.1(NOD2):c.1411G>A (p.Glu471Lys) GRCh37: Chr16:50745314 GRCh38: Chr16:50711403	NOD2	E471K, E498K	Blau syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24343842.	NM_001370466.1(NOD2):c.695T>G (p.Val232Gly) GRCh37: Chr16:50744598 GRCh38: Chr16:50710687	NOD2	V232G, V259G	Blau syndrome	Uncertain significance (Feb 11, 2020)	criteria provided, single submitter
Select item 24343833.	NM_001370466.1(NOD2):c.878A>G (p.Gln293Arg) GRCh37: Chr16:50744781 GRCh38: Chr16:50710870	NOD2	Q293R, Q320R	Blau syndrome	Uncertain significance (Jun 18, 2019)	criteria provided, single submitter
Select item 24316634.	NM_001370466.1(NOD2):c.-8-2532G>T GRCh37: Chr16:50730867 GRCh38: Chr16:50696956	NOD2		Blau syndrome	Uncertain significance (Feb 13, 2023)	criteria provided, single submitter
Select item 24213805.	NM_001370466.1(NOD2):c.2606G>A (p.Arg869Gln) GRCh37: Chr16:50753892 GRCh38: Chr16:50719981	NOD2	R869Q, R896Q	Blau syndrome, Regional enteritis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 24207946.	NM_001370466.1(NOD2):c.2027G>T (p.Arg676Leu) GRCh37: Chr16:50745930 GRCh38: Chr16:50712019	NOD2	R676L, R703L	Blau syndrome, Regional enteritis	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 24203887.	NM_001370466.1(NOD2):c.1499C>A (p.Pro500His) GRCh37: Chr16:50745402 GRCh38: Chr16:50711491	NOD2	P500H, P527H	Blau syndrome, Regional enteritis	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 24165268.	NM_001370466.1(NOD2):c.1309G>A (p.Gly437Arg) GRCh37: Chr16:50745212 GRCh38: Chr16:50711301	NOD2	G437R, G464R	Regional enteritis, Blau syndrome	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 24163299.	NM_001370466.1(NOD2):c.2261C>T (p.Ala754Val) GRCh37: Chr16:50746164 GRCh38: Chr16:50712253	NOD2	A754V, A781V	Regional enteritis, Blau syndrome	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 241619410.	NM_001370466.1(NOD2):c.882C>T (p.Asp294=) GRCh37: Chr16:50744785 GRCh38: Chr16:50710874	NOD2		Regional enteritis, Blau syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 241570911.	NM_001370466.1(NOD2):c.243A>G (p.Gln81=) GRCh37: Chr16:50733649 GRCh38: Chr16:50699738	NOD2		Regional enteritis, Blau syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 241330012.	NM_001370466.1(NOD2):c.2509G>C (p.Ala837Pro) GRCh37: Chr16:50750845 GRCh38: Chr16:50716934	NOD2	A837P, A864P	Blau syndrome, Regional enteritis	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 219965713.	NM_001370466.1(NOD2):c.2100G>C (p.Pro700=) GRCh37: Chr16:50746003 GRCh38: Chr16:50712092	NOD2		Regional enteritis, Blau syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 219942014.	NM_001370466.1(NOD2):c.2770C>T (p.Leu924=) GRCh37: Chr16:50757264 GRCh38: Chr16:50723353	NOD2		Regional enteritis, Blau syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 219890315.	NM_001370466.1(NOD2):c.2041C>T (p.Arg681Cys) GRCh37: Chr16:50745944 GRCh38: Chr16:50712033	NOD2	R681C, R708C	Regional enteritis, Blau syndrome	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 219382016.	NM_001370466.1(NOD2):c.1339C>A (p.Gln447Lys) GRCh37: Chr16:50745242 GRCh38: Chr16:50711331	NOD2	Q447K, Q474K	Regional enteritis, Blau syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 219381917.	NM_001370466.1(NOD2):c.891A>G (p.Glu297=) GRCh37: Chr16:50744794 GRCh38: Chr16:50710883	NOD2		Regional enteritis, Blau syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 219147418.	NM_001370466.1(NOD2):c.-8-2209G>A GRCh37: Chr16:50731190 GRCh38: Chr16:50697279	NOD2		Regional enteritis, Blau syndrome	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 218949419.	NM_001370466.1(NOD2):c.1204G>A (p.Ala402Thr) GRCh37: Chr16:50745107 GRCh38: Chr16:50711196	NOD2	A402T, A429T	Regional enteritis, Blau syndrome	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 218539420.	NM_001370466.1(NOD2):c.2267C>G (p.Ala756Gly) GRCh37: Chr16:50746170 GRCh38: Chr16:50712259	NOD2	A783G, A756G	Regional enteritis, Blau syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 218251721.	NM_001370466.1(NOD2):c.1308C>A (p.Pro436=) GRCh37: Chr16:50745211 GRCh38: Chr16:50711300	NOD2		Regional enteritis, Blau syndrome	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 217157822.	NM_001370466.1(NOD2):c.2286C>G (p.Leu762=) GRCh37: Chr16:50746189 GRCh38: Chr16:50712278	NOD2		Regional enteritis, Blau syndrome	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 217048223.	NM_001370466.1(NOD2):c.2948A>G (p.Asn983Ser) GRCh37: Chr16:50763791 GRCh38: Chr16:50729880	CYLD-AS1, NOD2	N1010S, N983S	NOD2-related condition, Regional enteritis, Blau syndrome	Uncertain significance (Aug 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216047124.	NM_001370466.1(NOD2):c.1827C>T (p.Gly609=) GRCh37: Chr16:50745730 GRCh38: Chr16:50711819	NOD2		Regional enteritis, Blau syndrome	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 216047025.	NM_001370466.1(NOD2):c.1093G>A (p.Glu365Lys) GRCh37: Chr16:50744996 GRCh38: Chr16:50711085	NOD2	E365K, E392K	Regional enteritis, Blau syndrome	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 215246226.	NM_001370466.1(NOD2):c.-8-2214G>A GRCh37: Chr16:50731185 GRCh38: Chr16:50697274	NOD2	D11N	Regional enteritis, Blau syndrome, Inborn genetic diseases	Uncertain significance (Apr 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215244727.	NM_001370466.1(NOD2):c.2032G>T (p.Ala678Ser) GRCh37: Chr16:50745935 GRCh38: Chr16:50712024	NOD2	A678S, A705S	Regional enteritis, Blau syndrome	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 215226128.	NM_001370466.1(NOD2):c.1294C>T (p.Arg432Cys) GRCh37: Chr16:50745197 GRCh38: Chr16:50711286	NOD2	R432C, R459C	Regional enteritis, Blau syndrome	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 215053129.	NM_001370466.1(NOD2):c.732G>A (p.Lys244=) GRCh37: Chr16:50744635 GRCh38: Chr16:50710724	NOD2		Regional enteritis, Blau syndrome	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 214931230.	NM_001370466.1(NOD2):c.2801+9G>T GRCh37: Chr16:50757304 GRCh38: Chr16:50723393	NOD2		Regional enteritis, Blau syndrome	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 214613331.	NM_001370466.1(NOD2):c.1349C>G (p.Ser450Ter) GRCh37: Chr16:50745252 GRCh38: Chr16:50711341	NOD2	S477, S450	Regional enteritis, Blau syndrome	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 214527232.	NM_001370466.1(NOD2):c.802G>A (p.Val268Met) GRCh37: Chr16:50744705 GRCh38: Chr16:50710794	NOD2	V268M, V295M	Regional enteritis, Blau syndrome	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 214520333.	NM_001370466.1(NOD2):c.725C>T (p.Pro242Leu) GRCh37: Chr16:50744628 GRCh38: Chr16:50710717	NOD2	P242L, P269L	Regional enteritis, Blau syndrome	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 214427234.	NM_001370466.1(NOD2):c.1497C>T (p.Thr499=) GRCh37: Chr16:50745400 GRCh38: Chr16:50711489	NOD2		Regional enteritis, Blau syndrome	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 214278735.	NM_001370466.1(NOD2):c.1065C>T (p.Asp355=) GRCh37: Chr16:50744968 GRCh38: Chr16:50711057	NOD2		Regional enteritis, Blau syndrome	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 213694236.	NM_001370466.1(NOD2):c.-8-2215C>T GRCh37: Chr16:50731184 GRCh38: Chr16:50697273	NOD2		Regional enteritis, Blau syndrome	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 213513637.	NM_001370466.1(NOD2):c.1938C>G (p.Ile646Met) GRCh37: Chr16:50745841 GRCh38: Chr16:50711930	NOD2	I673M, I646M	Regional enteritis, Blau syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 212859138.	NM_001370466.1(NOD2):c.238_239delinsAG (p.Ala80Ser) GRCh37: Chr16:50733644-50733645 GRCh38: Chr16:50699733-50699734	NOD2	A107S, A80S	Regional enteritis, Blau syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 212304039.	NM_001370466.1(NOD2):c.2647A>G (p.Arg883Gly) GRCh37: Chr16:50756546 GRCh38: Chr16:50722635	NOD2	R910G, R883G	Regional enteritis, Blau syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212257340.	NM_001370466.1(NOD2):c.2840C>G (p.Ser947Cys) GRCh37: Chr16:50759438 GRCh38: Chr16:50725527	NOD2	S947C, S974C	Regional enteritis, Blau syndrome	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 212046641.	NM_001370466.1(NOD2):c.113T>C (p.Val38Ala) GRCh37: Chr16:50733519 GRCh38: Chr16:50699608	NOD2	V65A, V38A	Regional enteritis, Blau syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211862242.	NM_001370466.1(NOD2):c.2314T>C (p.Tyr772His) GRCh37: Chr16:50746217 GRCh38: Chr16:50712306	NOD2	Y799H, Y772H	Regional enteritis, Blau syndrome	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211714843.	NM_001370466.1(NOD2):c.953T>C (p.Val318Ala) GRCh37: Chr16:50744856 GRCh38: Chr16:50710945	NOD2	V318A, V345A	Regional enteritis, Blau syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211651644.	NM_001370466.1(NOD2):c.561G>A (p.Leu187=) GRCh37: Chr16:50741867 GRCh38: Chr16:50707956	NOD2		Regional enteritis, Blau syndrome	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 211364145.	NM_001370466.1(NOD2):c.2859G>A (p.Lys953=) GRCh37: Chr16:50759457 GRCh38: Chr16:50725546	NOD2		Regional enteritis, Blau syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 210629546.	NM_001370466.1(NOD2):c.476A>G (p.Asp159Gly) GRCh37: Chr16:50741782 GRCh38: Chr16:50707871	NOD2	D159G, D186G	Regional enteritis, Blau syndrome	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 210372147.	NM_001370466.1(NOD2):c.1367G>A (p.Cys456Tyr) GRCh37: Chr16:50745270 GRCh38: Chr16:50711359	NOD2	C483Y, C456Y	Regional enteritis, Blau syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 209557848.	NM_001370466.1(NOD2):c.2099C>A (p.Pro700Gln) GRCh37: Chr16:50746002 GRCh38: Chr16:50712091	NOD2	P727Q, P700Q	Regional enteritis, Blau syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209501949.	NM_001370466.1(NOD2):c.-8-2166A>G GRCh37: Chr16:50731233 GRCh38: Chr16:50697322	NOD2		Regional enteritis, Blau syndrome	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 209364950.	NM_001370466.1(NOD2):c.2253G>C (p.Glu751Asp) GRCh37: Chr16:50746156 GRCh38: Chr16:50712245	NOD2	E778D, E751D	Regional enteritis, Blau syndrome	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 209277451.	NM_001370466.1(NOD2):c.2119C>T (p.His707Tyr) GRCh37: Chr16:50746022 GRCh38: Chr16:50712111	NOD2	H734Y, H707Y	Regional enteritis, Blau syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 209208352.	NM_001370466.1(NOD2):c.2677G>T (p.Ala893Ser) GRCh37: Chr16:50756576 GRCh38: Chr16:50722665	NOD2	A893S, A920S	Regional enteritis, Blau syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 209014153.	NM_001370466.1(NOD2):c.2106G>T (p.Glu702Asp) GRCh37: Chr16:50746009 GRCh38: Chr16:50712098	NOD2	E702D, E729D	Regional enteritis, Blau syndrome	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 208339954.	NM_001370466.1(NOD2):c.973C>T (p.His325Tyr) GRCh37: Chr16:50744876 GRCh38: Chr16:50710965	NOD2	H352Y, H325Y	Regional enteritis, Blau syndrome	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 208317055.	NM_001370466.1(NOD2):c.1317G>A (p.Ala439=) GRCh37: Chr16:50745220 GRCh38: Chr16:50711309	NOD2		Regional enteritis, Blau syndrome	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 207864856.	NM_001370466.1(NOD2):c.2769G>T (p.Met923Ile) GRCh37: Chr16:50757263 GRCh38: Chr16:50723352	NOD2	M923I, M950I	Regional enteritis, Blau syndrome	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 206796957.	NM_001370466.1(NOD2):c.-8-1G>C GRCh37: Chr16:50733398 GRCh38: Chr16:50699487	NOD2		Regional enteritis, Blau syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 206749458.	NM_001370466.1(NOD2):c.357C>T (p.His119=) GRCh37: Chr16:50733763 GRCh38: Chr16:50699852	NOD2		Regional enteritis, Blau syndrome	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 206728559.	NM_001370466.1(NOD2):c.1501C>G (p.Pro501Ala) GRCh37: Chr16:50745404 GRCh38: Chr16:50711493	NOD2	P528A, P501A	Blau syndrome, Regional enteritis, not provided	Uncertain significance (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206539760.	NM_001370466.1(NOD2):c.2145C>T (p.Leu715=) GRCh37: Chr16:50746048 GRCh38: Chr16:50712137	NOD2		Regional enteritis, Blau syndrome	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 206512961.	NM_001370466.1(NOD2):c.834G>A (p.Lys278=) GRCh37: Chr16:50744737 GRCh38: Chr16:50710826	NOD2		Regional enteritis, Blau syndrome	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 206020562.	NM_001370466.1(NOD2):c.154C>T (p.Gln52Ter) GRCh37: Chr16:50733560 GRCh38: Chr16:50699649	NOD2	Q52, Q79	Regional enteritis, Blau syndrome	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 205922563.	NM_001370466.1(NOD2):c.1102T>A (p.Cys368Ser) GRCh37: Chr16:50745005 GRCh38: Chr16:50711094	NOD2	C368S, C395S	Regional enteritis, Blau syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 205823664.	NM_001370466.1(NOD2):c.383T>A (p.Leu128Gln) GRCh37: Chr16:50733789 GRCh38: Chr16:50699878	NOD2	L155Q, L128Q	Regional enteritis, Blau syndrome	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 205361565.	NM_001370466.1(NOD2):c.1038T>C (p.Arg346=) GRCh37: Chr16:50744941 GRCh38: Chr16:50711030	NOD2		Regional enteritis, Blau syndrome	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 205082666.	NM_001370466.1(NOD2):c.795G>A (p.Ala265=) GRCh37: Chr16:50744698 GRCh38: Chr16:50710787	NOD2		Regional enteritis, Blau syndrome	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 204423067.	NM_001370466.1(NOD2):c.1893C>T (p.Ser631=) GRCh37: Chr16:50745796 GRCh38: Chr16:50711885	NOD2		Regional enteritis, Blau syndrome	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 204265068.	NM_001370466.1(NOD2):c.1663C>G (p.Leu555Val) GRCh37: Chr16:50745566 GRCh38: Chr16:50711655	NOD2	L582V, L555V	Regional enteritis, Blau syndrome	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 203914069.	NM_001370466.1(NOD2):c.920G>C (p.Arg307Pro) GRCh37: Chr16:50744823 GRCh38: Chr16:50710912	NOD2	R307P, R334P	Regional enteritis, Blau syndrome	Uncertain significance (Dec 10, 2021)	criteria provided, single submitter
Select item 203683870.	NM_001370466.1(NOD2):c.2885+19G>A GRCh37: Chr16:50759502 GRCh38: Chr16:50725591	NOD2		Regional enteritis, Blau syndrome	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 203510171.	NM_001370466.1(NOD2):c.2886-12C>T GRCh37: Chr16:50763717 GRCh38: Chr16:50729806	CYLD-AS1, NOD2		Regional enteritis, Blau syndrome	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 203428472.	NM_001370466.1(NOD2):c.107G>A (p.Trp36Ter) GRCh37: Chr16:50733513 GRCh38: Chr16:50699602	NOD2	W36, W63	Regional enteritis, Blau syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 203407873.	NM_001370466.1(NOD2):c.300G>T (p.Ser100=) GRCh37: Chr16:50733706 GRCh38: Chr16:50699795	NOD2		Regional enteritis, Blau syndrome	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 202590274.	NM_001370466.1(NOD2):c.678A>G (p.Thr226=) GRCh37: Chr16:50744581 GRCh38: Chr16:50710670	NOD2		Regional enteritis, Blau syndrome	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 201751975.	NM_001370466.1(NOD2):c.2019G>T (p.Leu673=) GRCh37: Chr16:50745922 GRCh38: Chr16:50712011	NOD2		Regional enteritis, Blau syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 201606276.	NM_001370466.1(NOD2):c.175A>G (p.Arg59Gly) GRCh37: Chr16:50733581 GRCh38: Chr16:50699670	NOD2	R86G, R59G	Regional enteritis, Blau syndrome	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 201468277.	NM_001370466.1(NOD2):c.2485A>C (p.Thr829Pro) GRCh37: Chr16:50750821 GRCh38: Chr16:50716910	NOD2	T856P, T829P	NOD2-related condition, Regional enteritis, Blau syndrome	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 201468178.	NM_001370466.1(NOD2):c.2969+15C>A GRCh37: Chr16:50763827 GRCh38: Chr16:50729916	NOD2, CYLD-AS1		Regional enteritis, Blau syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 200640979.	NM_001370466.1(NOD2):c.294C>G (p.Pro98=) GRCh37: Chr16:50733700 GRCh38: Chr16:50699789	NOD2		Regional enteritis, Blau syndrome	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 200541380.	NM_001370466.1(NOD2):c.1175C>T (p.Ala392Val) GRCh37: Chr16:50745078 GRCh38: Chr16:50711167	NOD2	A419V, A392V	Regional enteritis, Blau syndrome	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 200537181.	NM_001370466.1(NOD2):c.1675G>T (p.Val559Leu) GRCh37: Chr16:50745578 GRCh38: Chr16:50711667	NOD2	V559L, V586L	Regional enteritis, Blau syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 200378382.	NM_001370466.1(NOD2):c.2163G>C (p.Glu721Asp) GRCh37: Chr16:50746066 GRCh38: Chr16:50712155	NOD2	E721D, E748D	Regional enteritis, Blau syndrome	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 200310483.	NM_001370466.1(NOD2):c.2066G>T (p.Arg689Leu) GRCh37: Chr16:50745969 GRCh38: Chr16:50712058	NOD2	R716L, R689L	Regional enteritis, Blau syndrome	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 200051384.	NM_001370466.1(NOD2):c.2079C>A (p.His693Gln) GRCh37: Chr16:50745982 GRCh38: Chr16:50712071	NOD2	H693Q, H720Q	Regional enteritis, Blau syndrome	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 198832985.	NM_001370466.1(NOD2):c.2465+18G>A GRCh37: Chr16:50750599 GRCh38: Chr16:50716688	NOD2		Regional enteritis, Blau syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 198320186.	NM_001370466.1(NOD2):c.2466-11G>A GRCh37: Chr16:50750791 GRCh38: Chr16:50716880	NOD2		Regional enteritis, Blau syndrome	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 198253487.	NM_001370466.1(NOD2):c.39G>A (p.Gln13=) GRCh37: Chr16:50733445 GRCh38: Chr16:50699534	NOD2		Regional enteritis, Blau syndrome	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 198147188.	NM_001370466.1(NOD2):c.1497C>A (p.Thr499=) GRCh37: Chr16:50745400 GRCh38: Chr16:50711489	NOD2		Regional enteritis, Blau syndrome	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 198125489.	NM_001370466.1(NOD2):c.1331G>A (p.Arg444His) GRCh37: Chr16:50745234 GRCh38: Chr16:50711323	NOD2	R444H, R471H	Regional enteritis, Blau syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 197983190.	NM_001370466.1(NOD2):c.2418C>T (p.Cys806=) GRCh37: Chr16:50750534 GRCh38: Chr16:50716623	NOD2		Regional enteritis, Blau syndrome	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 197671391.	NM_001370466.1(NOD2):c.1107C>T (p.Ser369=) GRCh37: Chr16:50745010 GRCh38: Chr16:50711099	NOD2		Regional enteritis, Blau syndrome	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 197388692.	NM_001370466.1(NOD2):c.758A>G (p.Glu253Gly) GRCh37: Chr16:50744661 GRCh38: Chr16:50710750	NOD2	E253G, E280G	Regional enteritis, Blau syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 197366993.	NM_001370466.1(NOD2):c.159T>C (p.Pro53=) GRCh37: Chr16:50733565 GRCh38: Chr16:50699654	NOD2		Regional enteritis, Blau syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 196935894.	NM_001370466.1(NOD2):c.2985T>C (p.Thr995=) GRCh37: Chr16:50765673 GRCh38: Chr16:50731762	CYLD-AS1, NOD2		Regional enteritis, Blau syndrome	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 196918895.	NM_001370466.1(NOD2):c.418T>G (p.Cys140Gly) GRCh37: Chr16:50733824 GRCh38: Chr16:50699913	NOD2	C140G, C167G	Regional enteritis, Blau syndrome	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 196770596.	NM_001370466.1(NOD2):c.807G>C (p.Leu269=) GRCh37: Chr16:50744710 GRCh38: Chr16:50710799	NOD2		Regional enteritis, Blau syndrome	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 196575197.	NM_001370466.1(NOD2):c.2460G>A (p.Lys820=) GRCh37: Chr16:50750576 GRCh38: Chr16:50716665	NOD2		Regional enteritis, Blau syndrome	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 196367298.	NM_001370466.1(NOD2):c.1856C>T (p.Thr619Met) GRCh37: Chr16:50745759 GRCh38: Chr16:50711848	NOD2	T619M, T646M	Regional enteritis, Blau syndrome	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 196022499.	NM_001370466.1(NOD2):c.1559T>A (p.Leu520His) GRCh37: Chr16:50745462 GRCh38: Chr16:50711551	NOD2	L520H, L547H	Regional enteritis, Blau syndrome	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 1958657100.	NM_001370466.1(NOD2):c.1057G>A (p.Gly353Ser) GRCh37: Chr16:50744960 GRCh38: Chr16:50711049	NOD2	G380S, G353S	Regional enteritis, Blau syndrome	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter

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