ClinVar for MedGen (Select 45811) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25802251.	NM_000243.3(MEFV):c.390C>A (p.Asn130Lys) GRCh37: Chr16:3304678 GRCh38: Chr16:3254678	MEFV	N130K	Familial Mediterranean fever	Uncertain significance (May 12, 2023)	criteria provided, single submitter
Select item 24293482.	NM_000243.3(MEFV):c.1652A>G (p.Gln551Arg) GRCh37: Chr16:3294547 GRCh38: Chr16:3244547	MEFV	Q340R, Q551R	Familial Mediterranean fever	Uncertain significance (Feb 13, 2023)	criteria provided, single submitter
Select item 24283103.	NM_000243.3(MEFV):c.268_271del (p.Ala90fs) GRCh37: Chr16:3306317-3306320 GRCh38: Chr16:3256317-3256320	MEFV	A90fs	Familial Mediterranean fever	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 24281654.	NM_000243.3(MEFV):c.498G>A (p.Ser166=) GRCh37: Chr16:3304570 GRCh38: Chr16:3254570	MEFV		Familial Mediterranean fever	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 24226265.	NC_000016.9:g.(?_3306291)_(3306587_?)dup GRCh37: Chr16:3306291-3306587	MEFV		Familial Mediterranean fever	Uncertain significance (Jun 3, 2021)	criteria provided, single submitter
Select item 24226256.	NC_000016.9:g.(?_3293141)_(3294608_?)del GRCh37: Chr16:3293141-3294608	MEFV		Familial Mediterranean fever	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 24211577.	NM_000243.3(MEFV):c.1104C>T (p.Ser368=) GRCh37: Chr16:3299587 GRCh38: Chr16:3249587	MEFV		Familial Mediterranean fever	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 24210058.	NM_000243.3(MEFV):c.429G>A (p.Arg143=) GRCh37: Chr16:3304639 GRCh38: Chr16:3254639	MEFV		Familial Mediterranean fever	Likely benign (Feb 15, 2022)	criteria provided, single submitter
Select item 24177689.	NM_000243.3(MEFV):c.683C>T (p.Pro228Leu) GRCh37: Chr16:3304385 GRCh38: Chr16:3254385	MEFV	P228L	Familial Mediterranean fever	Uncertain significance (Aug 26, 2022)	criteria provided, single submitter
Select item 241598010.	NM_000243.3(MEFV):c.455G>C (p.Gly152Ala) GRCh37: Chr16:3304613 GRCh38: Chr16:3254613	MEFV	G152A	Familial Mediterranean fever	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 241597411.	NM_000243.3(MEFV):c.196G>A (p.Ala66Thr) GRCh37: Chr16:3306392 GRCh38: Chr16:3256392	MEFV	A66T	Familial Mediterranean fever	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 241523612.	NM_000243.3(MEFV):c.1760-13T>C GRCh37: Chr16:3293905 GRCh38: Chr16:3243905	LOC126862264, MEFV	I430T	Familial Mediterranean fever	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 241442513.	NM_000243.3(MEFV):c.1437C>A (p.Phe479Leu) GRCh37: Chr16:3297166 GRCh38: Chr16:3247166	MEFV	F268L, F479L	Familial Mediterranean fever	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 220114414.	NM_000243.3(MEFV):c.481C>G (p.Arg161Gly) GRCh37: Chr16:3304587 GRCh38: Chr16:3254587	MEFV	R161G	Familial Mediterranean fever	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 219887815.	NM_000243.3(MEFV):c.1A>C (p.Met1Leu) GRCh37: Chr16:3306587 GRCh38: Chr16:3256587	MEFV	M1L	Familial Mediterranean fever	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219521516.	NC_000016.9:g.3306984G>C GRCh37: Chr16:3306984 GRCh38: Chr16:3256984	MEFV		Familial Mediterranean fever	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 219291017.	NM_000243.3(MEFV):c.787C>T (p.Leu263=) GRCh37: Chr16:3304281 GRCh38: Chr16:3254281	MEFV		Familial Mediterranean fever	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 219265918.	NM_000243.3(MEFV):c.1969G>C (p.Val657Leu) GRCh37: Chr16:3293518 GRCh38: Chr16:3243518	LOC126862264, MEFV	V657L	Familial Mediterranean fever	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 219094719.	NM_000243.3(MEFV):c.548C>G (p.Pro183Arg) GRCh37: Chr16:3304520 GRCh38: Chr16:3254520	MEFV	P183R	Familial Mediterranean fever	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 218896120.	NM_000243.3(MEFV):c.382G>A (p.Glu128Lys) GRCh37: Chr16:3304686 GRCh38: Chr16:3254686	MEFV	E128K	Familial Mediterranean fever	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 218557121.	NM_000243.3(MEFV):c.1030G>T (p.Ala344Ser) GRCh37: Chr16:3299661 GRCh38: Chr16:3249661	MEFV	A133S, A344S	Familial Mediterranean fever	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 218385822.	NM_000243.3(MEFV):c.278-5T>A GRCh37: Chr16:3304795 GRCh38: Chr16:3254795	MEFV		Familial Mediterranean fever	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 218364823.	NM_000243.3(MEFV):c.303A>T (p.Thr101=) GRCh37: Chr16:3304765 GRCh38: Chr16:3254765	MEFV		Familial Mediterranean fever	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 218361524.	NM_000243.3(MEFV):c.2291G>C (p.Gly764Ala) GRCh37: Chr16:3293196 GRCh38: Chr16:3243196	MEFV	G764A	Familial Mediterranean fever	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 218320125.	NM_000243.3(MEFV):c.182A>G (p.Tyr61Cys) GRCh37: Chr16:3306406 GRCh38: Chr16:3256406	MEFV	Y61C	Familial Mediterranean fever	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 218263626.	NM_000243.3(MEFV):c.252G>C (p.Glu84Asp) GRCh37: Chr16:3306336 GRCh38: Chr16:3256336	MEFV	E84D	Familial Mediterranean fever	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 218190127.	NM_000243.3(MEFV):c.277+1G>A GRCh37: Chr16:3306310 GRCh38: Chr16:3256310	MEFV		Familial Mediterranean fever	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 218135728.	NM_000243.3(MEFV):c.762C>T (p.Pro254=) GRCh37: Chr16:3304306 GRCh38: Chr16:3254306	MEFV		Familial Mediterranean fever	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 217940929.	NM_000243.3(MEFV):c.1376A>C (p.Lys459Thr) GRCh37: Chr16:3297227 GRCh38: Chr16:3247227	MEFV	K248T, K459T	Familial Mediterranean fever	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 217703830.	NM_000243.3(MEFV):c.1639T>C (p.Trp547Arg) GRCh37: Chr16:3294560 GRCh38: Chr16:3244560	MEFV	W336R, W547R	Familial Mediterranean fever	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 217392631.	NM_000243.3(MEFV):c.74A>G (p.Lys25Arg) GRCh37: Chr16:3306514 GRCh38: Chr16:3256514	MEFV	K25R	Familial Mediterranean fever	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 217333732.	NM_000243.3(MEFV):c.949G>A (p.Ala317Thr) GRCh37: Chr16:3299742 GRCh38: Chr16:3249742	MEFV	A106T, A317T	Familial Mediterranean fever	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 217195033.	NM_000243.3(MEFV):c.1261-16A>C GRCh37: Chr16:3299020 GRCh38: Chr16:3249020	MEFV		Familial Mediterranean fever	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 217166334.	NM_000243.3(MEFV):c.847C>G (p.Pro283Ala) GRCh37: Chr16:3304221 GRCh38: Chr16:3254221	MEFV	P283A	Familial Mediterranean fever	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 216978835.	NM_000243.3(MEFV):c.1563C>T (p.Cys521=) GRCh37: Chr16:3297040 GRCh38: Chr16:3247040	MEFV		Familial Mediterranean fever	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 216978536.	NM_000243.3(MEFV):c.343C>T (p.Pro115Ser) GRCh37: Chr16:3304725 GRCh38: Chr16:3254725	MEFV	P115S	Familial Mediterranean fever	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 216857237.	NM_000243.3(MEFV):c.587G>C (p.Gly196Ala) GRCh37: Chr16:3304481 GRCh38: Chr16:3254481	MEFV	G196A	Familial Mediterranean fever	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 216703438.	NM_000243.3(MEFV):c.2226A>G (p.Thr742=) GRCh37: Chr16:3293261 GRCh38: Chr16:3243261	MEFV		Familial Mediterranean fever	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 216689239.	NM_000243.3(MEFV):c.523C>T (p.Pro175Ser) GRCh37: Chr16:3304545 GRCh38: Chr16:3254545	MEFV	P175S	Familial Mediterranean fever	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 216540840.	NM_000243.3(MEFV):c.1920C>T (p.Ile640=) GRCh37: Chr16:3293567 GRCh38: Chr16:3243567	LOC126862264, MEFV		Familial Mediterranean fever	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 216139341.	NM_000243.3(MEFV):c.1284G>T (p.Glu428Asp) GRCh37: Chr16:3298981 GRCh38: Chr16:3248981	MEFV	E428D, E217D	Familial Mediterranean fever	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 216103242.	NM_000243.3(MEFV):c.629C>G (p.Ala210Gly) GRCh37: Chr16:3304439 GRCh38: Chr16:3254439	MEFV	A210G	Familial Mediterranean fever	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 216050543.	NM_000243.3(MEFV):c.749G>C (p.Gly250Ala) GRCh37: Chr16:3304319 GRCh38: Chr16:3254319	MEFV	G250A	Familial Mediterranean fever	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 215740244.	NM_000243.3(MEFV):c.278-20G>T GRCh37: Chr16:3304810 GRCh38: Chr16:3254810	MEFV		Familial Mediterranean fever	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 215596645.	NM_000243.3(MEFV):c.882C>T (p.Gly294=) GRCh37: Chr16:3304186 GRCh38: Chr16:3254186	MEFV		Familial Mediterranean fever	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 215531546.	NM_000243.3(MEFV):c.384G>A (p.Glu128=) GRCh37: Chr16:3304684 GRCh38: Chr16:3254684	MEFV		Familial Mediterranean fever	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 215161447.	NM_000243.3(MEFV):c.2085G>A (p.Lys695=) GRCh37: Chr16:3293402 GRCh38: Chr16:3243402	LOC126862264, MEFV		Familial Mediterranean fever	Likely benign (Jan 23, 2019)	criteria provided, single submitter
Select item 214942848.	NM_000243.3(MEFV):c.1773T>C (p.Ile591=) GRCh37: Chr16:3293879 GRCh38: Chr16:3243879	LOC126862264, MEFV	W439R	Familial Mediterranean fever	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 214508349.	NM_000243.3(MEFV):c.1268T>G (p.Ile423Ser) GRCh37: Chr16:3298997 GRCh38: Chr16:3248997	MEFV	I423S, I212S	Familial Mediterranean fever	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 214315950.	NM_000243.3(MEFV):c.1017T>C (p.Ser339=) GRCh37: Chr16:3299674 GRCh38: Chr16:3249674	MEFV		Familial Mediterranean fever	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 214210351.	NM_000243.3(MEFV):c.1239G>A (p.Glu413=) GRCh37: Chr16:3299452 GRCh38: Chr16:3249452	MEFV		Familial Mediterranean fever	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 214096152.	NM_000243.3(MEFV):c.1611-4C>G GRCh37: Chr16:3294592 GRCh38: Chr16:3244592	MEFV		Familial Mediterranean fever	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 214073653.	NM_000243.3(MEFV):c.1327T>A (p.Tyr443Asn) GRCh37: Chr16:3298938 GRCh38: Chr16:3248938	MEFV	Y232N, Y443N	Familial Mediterranean fever	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 214023054.	NM_000243.3(MEFV):c.513G>A (p.Ala171=) GRCh37: Chr16:3304555 GRCh38: Chr16:3254555	MEFV		Familial Mediterranean fever	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 213977955.	NM_000243.3(MEFV):c.633G>A (p.Gly211=) GRCh37: Chr16:3304435 GRCh38: Chr16:3254435	MEFV		Familial Mediterranean fever	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 213421956.	NM_000243.3(MEFV):c.451A>T (p.Arg151Trp) GRCh37: Chr16:3304617 GRCh38: Chr16:3254617	MEFV	R151W	Familial Mediterranean fever	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 213172957.	NM_000243.3(MEFV):c.1431G>T (p.Glu477Asp) GRCh37: Chr16:3297172 GRCh38: Chr16:3247172	MEFV	E266D, E477D	Familial Mediterranean fever	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 213043658.	NM_000243.3(MEFV):c.943T>C (p.Cys315Arg) GRCh37: Chr16:3299748 GRCh38: Chr16:3249748	MEFV	C104R, C315R	Familial Mediterranean fever	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 212729359.	NM_000243.3(MEFV):c.718C>G (p.Pro240Ala) GRCh37: Chr16:3304350 GRCh38: Chr16:3254350	MEFV	P240A	Familial Mediterranean fever	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212481160.	NM_000243.3(MEFV):c.1893T>C (p.Asp631=) GRCh37: Chr16:3293594 GRCh38: Chr16:3243594	LOC126862264, MEFV		Familial Mediterranean fever	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 212253061.	NM_000243.3(MEFV):c.721A>G (p.Arg241Gly) GRCh37: Chr16:3304347 GRCh38: Chr16:3254347	MEFV	R241G	Familial Mediterranean fever	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 212142962.	NM_000243.3(MEFV):c.1846G>A (p.Asp616Asn) GRCh37: Chr16:3293641 GRCh38: Chr16:3243641	LOC126862264, MEFV	D616N	Familial Mediterranean fever	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211955063.	NM_000243.3(MEFV):c.1318C>A (p.Gln440Lys) GRCh37: Chr16:3298947 GRCh38: Chr16:3248947	MEFV	Q229K, Q440K	Familial Mediterranean fever	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 211640264.	NM_000243.3(MEFV):c.1026C>T (p.Pro342=) GRCh37: Chr16:3299665 GRCh38: Chr16:3249665	MEFV		Familial Mediterranean fever	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 211575165.	NM_000243.3(MEFV):c.1382G>C (p.Arg461Pro) GRCh37: Chr16:3297221 GRCh38: Chr16:3247221	MEFV	R250P, R461P	Familial Mediterranean fever	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 211420166.	NM_000243.3(MEFV):c.1760-1G>T GRCh37: Chr16:3293893 GRCh38: Chr16:3243893	LOC126862264, MEFV	S434I	Familial Mediterranean fever	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 210923767.	NM_000243.3(MEFV):c.61T>C (p.Phe21Leu) GRCh37: Chr16:3306527 GRCh38: Chr16:3256527	MEFV	F21L	Familial Mediterranean fever	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 210874268.	NM_000243.3(MEFV):c.1356+13del GRCh37: Chr16:3298896 GRCh38: Chr16:3248896	MEFV		Familial Mediterranean fever	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210565869.	NM_000243.3(MEFV):c.967G>C (p.Val323Leu) GRCh37: Chr16:3299724 GRCh38: Chr16:3249724	MEFV	V323L, V112L	Familial Mediterranean fever	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 210238770.	NM_000243.3(MEFV):c.10A>G (p.Thr4Ala) GRCh37: Chr16:3306578 GRCh38: Chr16:3256578	MEFV	T4A	Familial Mediterranean fever	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 210238671.	NM_000243.3(MEFV):c.1551G>A (p.Glu517=) GRCh37: Chr16:3297052 GRCh38: Chr16:3247052	MEFV		Familial Mediterranean fever	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 209688772.	NM_000243.3(MEFV):c.264G>A (p.Arg88=) GRCh37: Chr16:3306324 GRCh38: Chr16:3256324	MEFV		Familial Mediterranean fever	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 209458373.	NM_000243.3(MEFV):c.939C>T (p.Pro313=) GRCh37: Chr16:3299752 GRCh38: Chr16:3249752	MEFV		Familial Mediterranean fever	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 209319174.	NM_000243.3(MEFV):c.778C>A (p.Leu260Ile) GRCh37: Chr16:3304290 GRCh38: Chr16:3254290	MEFV	L260I	Familial Mediterranean fever	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 208819975.	NM_000243.3(MEFV):c.1019G>A (p.Gly340Glu) GRCh37: Chr16:3299672 GRCh38: Chr16:3249672	MEFV	G129E, G340E	Familial Mediterranean fever	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 208790076.	NM_000243.3(MEFV):c.1734G>A (p.Leu578=) GRCh37: Chr16:3294279 GRCh38: Chr16:3244279	LOC126862264, MEFV		Familial Mediterranean fever	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 208681177.	NM_000243.3(MEFV):c.831C>A (p.Pro277=) GRCh37: Chr16:3304237 GRCh38: Chr16:3254237	MEFV		Familial Mediterranean fever	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 208613378.	NM_000243.3(MEFV):c.965C>G (p.Pro322Arg) GRCh37: Chr16:3299726 GRCh38: Chr16:3249726	MEFV	P322R, P111R	Familial Mediterranean fever	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 207700379.	NM_000243.3(MEFV):c.1955G>A (p.Arg652His) GRCh37: Chr16:3293532 GRCh38: Chr16:3243532	LOC126862264, MEFV	R652H	Familial Mediterranean fever	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 207479980.	NM_000243.3(MEFV):c.35C>T (p.Thr12Ile) GRCh37: Chr16:3306553 GRCh38: Chr16:3256553	MEFV	T12I	Familial Mediterranean fever	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 207435381.	NM_000243.3(MEFV):c.222G>A (p.Leu74=) GRCh37: Chr16:3306366 GRCh38: Chr16:3256366	MEFV		Familial Mediterranean fever	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 207272682.	NM_000243.3(MEFV):c.1381C>T (p.Arg461Trp) GRCh37: Chr16:3297222 GRCh38: Chr16:3247222	MEFV	R250W, R461W	Familial Mediterranean fever	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 206674883.	NM_000243.3(MEFV):c.908C>T (p.Thr303Ile) GRCh37: Chr16:3304160 GRCh38: Chr16:3254160	MEFV	T303I	Familial Mediterranean fever	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 205652884.	NM_000243.3(MEFV):c.1034C>T (p.Ser345Leu) GRCh37: Chr16:3299657 GRCh38: Chr16:3249657	MEFV	S134L, S345L	Familial Mediterranean fever	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 204669285.	NM_000243.3(MEFV):c.1248C>T (p.Ala416=) GRCh37: Chr16:3299443 GRCh38: Chr16:3249443	MEFV		Familial Mediterranean fever	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 204456286.	NM_000243.3(MEFV):c.1260+12C>T GRCh37: Chr16:3299419 GRCh38: Chr16:3249419	MEFV		Familial Mediterranean fever	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 204409187.	NM_000243.3(MEFV):c.1308_1309del (p.Glu438fs) GRCh37: Chr16:3298956-3298957 GRCh38: Chr16:3248956-3248957	MEFV	E227fs, E438fs	Familial Mediterranean fever	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 203564388.	NM_000243.3(MEFV):c.315A>G (p.Ala105=) GRCh37: Chr16:3304753 GRCh38: Chr16:3254753	MEFV		Familial Mediterranean fever	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203554389.	NM_000243.3(MEFV):c.1290G>C (p.Leu430=) GRCh37: Chr16:3298975 GRCh38: Chr16:3248975	MEFV		Familial Mediterranean fever	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203294890.	NM_000243.3(MEFV):c.567C>G (p.Gly189=) GRCh37: Chr16:3304501 GRCh38: Chr16:3254501	MEFV		Familial Mediterranean fever	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 202534991.	NM_000243.3(MEFV):c.1398G>A (p.Leu466=) GRCh37: Chr16:3297205 GRCh38: Chr16:3247205	MEFV		Familial Mediterranean fever	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202478892.	NM_000243.3(MEFV):c.474G>C (p.Leu158=) GRCh37: Chr16:3304594 GRCh38: Chr16:3254594	MEFV		Familial Mediterranean fever	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 202192493.	NM_000243.3(MEFV):c.1260+8C>T GRCh37: Chr16:3299423 GRCh38: Chr16:3249423	MEFV		Familial Mediterranean fever	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 202165794.	NM_000243.3(MEFV):c.330G>T (p.Leu110=) GRCh37: Chr16:3304738 GRCh38: Chr16:3254738	MEFV		Familial Mediterranean fever	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 202092095.	NM_000243.3(MEFV):c.579G>T (p.Ala193=) GRCh37: Chr16:3304489 GRCh38: Chr16:3254489	MEFV		Familial Mediterranean fever	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 201742796.	NM_000243.3(MEFV):c.1026C>A (p.Pro342=) GRCh37: Chr16:3299665 GRCh38: Chr16:3249665	MEFV		Familial Mediterranean fever	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 201149197.	NM_000243.3(MEFV):c.2177T>G (p.Val726Gly) GRCh37: Chr16:3293310 GRCh38: Chr16:3243310	MEFV	V726G	Familial Mediterranean fever	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 200837498.	NM_000243.3(MEFV):c.1357-13C>G GRCh37: Chr16:3297259 GRCh38: Chr16:3247259	MEFV		Familial Mediterranean fever	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 200649099.	NM_000243.3(MEFV):c.1143G>C (p.Gln381His) GRCh37: Chr16:3299548 GRCh38: Chr16:3249548	MEFV	Q170H, Q381H	Familial Mediterranean fever	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 2004003100.	NM_000243.3(MEFV):c.278-11_278-9del GRCh37: Chr16:3304799-3304801 GRCh38: Chr16:3254799-3254801	MEFV		Familial Mediterranean fever	Likely benign (Jun 9, 2022)	criteria provided, single submitter

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