ClinVar for MedGen (Select 863797) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25017711.	NM_198271.5(LMOD3):c.944_945del (p.Leu315fs) GRCh37: Chr3:69168561-69168562 GRCh38: Chr3:69119410-69119411	LMOD3	L315fs	Nemaline myopathy 10	Pathogenic (May 8, 2023)	criteria provided, single submitter
Select item 24411982.	NM_198271.5(LMOD3):c.1418C>A (p.Ser473Ter) GRCh37: Chr3:69168088 GRCh38: Chr3:69118937	LMOD3	S473*	Nemaline myopathy 10	Likely pathogenic (Feb 21, 2023)	criteria provided, single submitter
Select item 24334913.	NM_198271.5(LMOD3):c.214G>A (p.Val72Ile) GRCh37: Chr3:69171324 GRCh38: Chr3:69122173	LMOD3, LOC126806710	V72I	Nemaline myopathy 10	Uncertain significance (Jan 10, 2019)	criteria provided, single submitter
Select item 24334904.	NM_198271.5(LMOD3):c.1368C>G (p.Asn456Lys) GRCh37: Chr3:69168138 GRCh38: Chr3:69118987	LMOD3	N456K	Nemaline myopathy 10	Uncertain significance (Mar 7, 2022)	criteria provided, single submitter
Select item 24210935.	NM_198271.5(LMOD3):c.456TGA[5] (p.Asp157_Glu158insAsp) GRCh37: Chr3:69169038-69169039 GRCh38: Chr3:69119887-69119888	LMOD3		Nemaline myopathy 10	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 22013286.	NM_198271.5(LMOD3):c.1621G>A (p.Asp541Asn) GRCh37: Chr3:69167885 GRCh38: Chr3:69118734	LMOD3	D541N	Nemaline myopathy 10	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 21955947.	NM_198271.5(LMOD3):c.1529A>G (p.Asn510Ser) GRCh37: Chr3:69167977 GRCh38: Chr3:69118826	LMOD3	N510S	Nemaline myopathy 10	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 21941358.	NM_198271.5(LMOD3):c.43G>A (p.Asp15Asn) GRCh37: Chr3:69171495 GRCh38: Chr3:69122344	LMOD3, LOC126806710	D15N	Nemaline myopathy 10	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 21895779.	NM_198271.5(LMOD3):c.17G>T (p.Arg6Ile) GRCh37: Chr3:69171521 GRCh38: Chr3:69122370	LMOD3, LOC126806710	R6I	Nemaline myopathy 10	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 218810010.	NM_198271.5(LMOD3):c.1336T>C (p.Phe446Leu) GRCh37: Chr3:69168170 GRCh38: Chr3:69119019	LMOD3	F446L	Inborn genetic diseases, Nemaline myopathy 10	Uncertain significance (Nov 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217606911.	NM_198271.5(LMOD3):c.278_288del (p.Thr93fs) GRCh37: Chr3:69171250-69171260 GRCh38: Chr3:69122099-69122109	LMOD3, LOC126806710	T93fs	Nemaline myopathy 10	Pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 217266812.	NM_198271.5(LMOD3):c.272C>T (p.Pro91Leu) GRCh37: Chr3:69171266 GRCh38: Chr3:69122115	LMOD3, LOC126806710	P91L	Nemaline myopathy 10	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 216951113.	NM_198271.5(LMOD3):c.882dup (p.Asp295fs) GRCh37: Chr3:69168623-69168624 GRCh38: Chr3:69119472-69119473	LMOD3	D295fs	Nemaline myopathy 10	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 215464514.	NM_198271.5(LMOD3):c.1140G>A (p.Pro380=) GRCh37: Chr3:69168366 GRCh38: Chr3:69119215	LMOD3		Nemaline myopathy 10	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 214967815.	NM_198271.5(LMOD3):c.1330C>T (p.Gln444Ter) GRCh37: Chr3:69168176 GRCh38: Chr3:69119025	LMOD3	Q444*	Nemaline myopathy 10	Pathogenic (Apr 19, 2022)	criteria provided, single submitter
Select item 214813216.	NM_198271.5(LMOD3):c.990C>G (p.Ile330Met) GRCh37: Chr3:69168516 GRCh38: Chr3:69119365	LMOD3	I330M	Nemaline myopathy 10	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 214803917.	NM_198271.5(LMOD3):c.48G>A (p.Glu16=) GRCh37: Chr3:69171490 GRCh38: Chr3:69122339	LMOD3, LOC126806710		Nemaline myopathy 10	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 213940018.	NM_198271.5(LMOD3):c.1566G>A (p.Pro522=) GRCh37: Chr3:69167940 GRCh38: Chr3:69118789	LMOD3		Nemaline myopathy 10	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 211916519.	NM_198271.5(LMOD3):c.112G>T (p.Glu38Ter) GRCh37: Chr3:69171426 GRCh38: Chr3:69122275	LOC126806710, LMOD3	E38*	Nemaline myopathy 10	Pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 211637120.	NM_198271.5(LMOD3):c.1355C>G (p.Pro452Arg) GRCh37: Chr3:69168151 GRCh38: Chr3:69119000	LMOD3	P452R	Nemaline myopathy 10	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 210854921.	NM_198271.5(LMOD3):c.980T>C (p.Ile327Thr) GRCh37: Chr3:69168526 GRCh38: Chr3:69119375	LMOD3	I327T	Nemaline myopathy 10	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 210589122.	NM_198271.5(LMOD3):c.990C>A (p.Ile330=) GRCh37: Chr3:69168516 GRCh38: Chr3:69119365	LMOD3		Nemaline myopathy 10	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 210492623.	NM_198271.5(LMOD3):c.312G>A (p.Glu104=) GRCh37: Chr3:69169194 GRCh38: Chr3:69120043	LMOD3		Nemaline myopathy 10	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 209926724.	NM_198271.5(LMOD3):c.563G>A (p.Cys188Tyr) GRCh37: Chr3:69168943 GRCh38: Chr3:69119792	LMOD3	C188Y	Nemaline myopathy 10	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 209467725.	NM_198271.5(LMOD3):c.1656+12G>T GRCh37: Chr3:69167838 GRCh38: Chr3:69118687	LMOD3		Nemaline myopathy 10	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 209374726.	NM_198271.5(LMOD3):c.1607A>T (p.Asp536Val) GRCh37: Chr3:69167899 GRCh38: Chr3:69118748	LMOD3	D536V	Nemaline myopathy 10	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 208280827.	NM_198271.5(LMOD3):c.1318G>A (p.Asp440Asn) GRCh37: Chr3:69168188 GRCh38: Chr3:69119037	LMOD3	D440N	Nemaline myopathy 10	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 208036928.	NM_198271.5(LMOD3):c.430G>A (p.Asp144Asn) GRCh37: Chr3:69169076 GRCh38: Chr3:69119925	LMOD3	D144N	Nemaline myopathy 10	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 207995229.	NM_198271.5(LMOD3):c.507G>A (p.Thr169=) GRCh37: Chr3:69168999 GRCh38: Chr3:69119848	LMOD3		Nemaline myopathy 10	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 207870730.	NM_198271.5(LMOD3):c.370A>G (p.Asn124Asp) GRCh37: Chr3:69169136 GRCh38: Chr3:69119985	LMOD3	N124D	Nemaline myopathy 10	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 207608231.	NM_198271.5(LMOD3):c.116T>C (p.Met39Thr) GRCh37: Chr3:69171422 GRCh38: Chr3:69122271	LMOD3, LOC126806710	M39T	Nemaline myopathy 10	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 206686632.	NM_198271.5(LMOD3):c.547A>G (p.Asn183Asp) GRCh37: Chr3:69168959 GRCh38: Chr3:69119808	LMOD3	N183D	Nemaline myopathy 10	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 206460933.	NM_198271.5(LMOD3):c.1680G>T (p.Ala560=) GRCh37: Chr3:69158249 GRCh38: Chr3:69109098	LMOD3		Nemaline myopathy 10	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 205744834.	NM_198271.5(LMOD3):c.137C>T (p.Pro46Leu) GRCh37: Chr3:69171401 GRCh38: Chr3:69122250	LMOD3, LOC126806710	P46L	Nemaline myopathy 10	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 205643035.	NM_198271.5(LMOD3):c.1252G>A (p.Ala418Thr) GRCh37: Chr3:69168254 GRCh38: Chr3:69119103	LMOD3	A418T	Nemaline myopathy 10	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 205197136.	NM_198271.5(LMOD3):c.1052T>C (p.Met351Thr) GRCh37: Chr3:69168454 GRCh38: Chr3:69119303	LMOD3	M351T	Nemaline myopathy 10	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 204629237.	NM_198271.5(LMOD3):c.96G>T (p.Leu32=) GRCh37: Chr3:69171442 GRCh38: Chr3:69122291	LMOD3, LOC126806710		Nemaline myopathy 10	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203952238.	NM_198271.5(LMOD3):c.1381C>T (p.Pro461Ser) GRCh37: Chr3:69168125 GRCh38: Chr3:69118974	LMOD3	P461S	Nemaline myopathy 10	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 203701939.	NM_198271.5(LMOD3):c.295-20C>G GRCh37: Chr3:69169231 GRCh38: Chr3:69120080	LMOD3		Nemaline myopathy 10	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 202831440.	NM_198271.5(LMOD3):c.1296G>A (p.Glu432=) GRCh37: Chr3:69168210 GRCh38: Chr3:69119059	LMOD3		Nemaline myopathy 10	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 201561641.	NM_198271.5(LMOD3):c.1088T>G (p.Leu363Arg) GRCh37: Chr3:69168418 GRCh38: Chr3:69119267	LMOD3	L363R	Nemaline myopathy 10	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 201529942.	NM_198271.5(LMOD3):c.226T>C (p.Tyr76His) GRCh37: Chr3:69171312 GRCh38: Chr3:69122161	LMOD3, LOC126806710	Y76H	Nemaline myopathy 10	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 201301243.	NM_198271.5(LMOD3):c.1158C>T (p.Val386=) GRCh37: Chr3:69168348 GRCh38: Chr3:69119197	LMOD3		Nemaline myopathy 10	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201052044.	NM_198271.5(LMOD3):c.1667C>G (p.Pro556Arg) GRCh37: Chr3:69158262 GRCh38: Chr3:69109111	LMOD3	P556R	Nemaline myopathy 10	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 199695345.	NM_198271.5(LMOD3):c.1056G>A (p.Leu352=) GRCh37: Chr3:69168450 GRCh38: Chr3:69119299	LMOD3		Nemaline myopathy 10	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 199515246.	NM_198271.5(LMOD3):c.872A>C (p.Asn291Thr) GRCh37: Chr3:69168634 GRCh38: Chr3:69119483	LMOD3	N291T	Nemaline myopathy 10	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 198906047.	NM_198271.5(LMOD3):c.1268G>C (p.Gly423Ala) GRCh37: Chr3:69168238 GRCh38: Chr3:69119087	LMOD3	G423A	Nemaline myopathy 10	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 198199448.	NM_198271.5(LMOD3):c.1492C>T (p.Arg498Trp) GRCh37: Chr3:69168014 GRCh38: Chr3:69118863	LMOD3	R498W	Nemaline myopathy 10	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 197764249.	NM_198271.5(LMOD3):c.474A>T (p.Glu158Asp) GRCh37: Chr3:69169032 GRCh38: Chr3:69119881	LMOD3	E158D	Nemaline myopathy 10	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 197466550.	NM_198271.5(LMOD3):c.1551G>T (p.Thr517=) GRCh37: Chr3:69167955 GRCh38: Chr3:69118804	LMOD3		Nemaline myopathy 10	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 196777851.	NM_198271.5(LMOD3):c.641C>T (p.Ser214Leu) GRCh37: Chr3:69168865 GRCh38: Chr3:69119714	LMOD3	S214L	Nemaline myopathy 10	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 195962452.	NM_198271.5(LMOD3):c.465T>C (p.Asp155=) GRCh37: Chr3:69169041 GRCh38: Chr3:69119890	LMOD3		Nemaline myopathy 10	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 194743553.	NM_198271.5(LMOD3):c.294+20C>T GRCh37: Chr3:69171224 GRCh38: Chr3:69122073	LMOD3, LOC126806710		Nemaline myopathy 10	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 192327654.	NM_198271.5(LMOD3):c.1312A>G (p.Lys438Glu) GRCh37: Chr3:69168194 GRCh38: Chr3:69119043	LMOD3	K438E	Nemaline myopathy 10	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 192005955.	NM_198271.5(LMOD3):c.633A>C (p.Lys211Asn) GRCh37: Chr3:69168873 GRCh38: Chr3:69119722	LMOD3	K211N	Nemaline myopathy 10	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 191753856.	NM_198271.5(LMOD3):c.307G>A (p.Glu103Lys) GRCh37: Chr3:69169199 GRCh38: Chr3:69120048	LMOD3	E103K	Nemaline myopathy 10	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 190356757.	NM_198271.5(LMOD3):c.985G>A (p.Ala329Thr) GRCh37: Chr3:69168521 GRCh38: Chr3:69119370	LMOD3	A329T	Nemaline myopathy 10	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 171761158.	NM_198271.5(LMOD3):c.26A>G (p.Asp9Gly) GRCh37: Chr3:69171512 GRCh38: Chr3:69122361	LMOD3, LOC126806710	D9G	Nemaline myopathy 10	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 167293759.	NM_198271.5(LMOD3):c.1449C>T (p.Asp483=) GRCh37: Chr3:69168057 GRCh38: Chr3:69118906	LMOD3		Nemaline myopathy 10	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 165908960.	NM_198271.5(LMOD3):c.276C>T (p.Val92=) GRCh37: Chr3:69171262 GRCh38: Chr3:69122111	LMOD3, LOC126806710		Nemaline myopathy 10	Likely benign (Jan 12, 2021)	criteria provided, single submitter
Select item 165298261.	NM_198271.5(LMOD3):c.417T>C (p.Asn139=) GRCh37: Chr3:69169089 GRCh38: Chr3:69119938	LMOD3		Nemaline myopathy 10	Likely benign (Apr 24, 2021)	criteria provided, single submitter
Select item 164980462.	NM_198271.5(LMOD3):c.1353A>C (p.Pro451=) GRCh37: Chr3:69168153 GRCh38: Chr3:69119002	LMOD3		Nemaline myopathy 10	Likely benign (Apr 30, 2021)	criteria provided, single submitter
Select item 164057863.	NM_198271.5(LMOD3):c.1527C>T (p.Thr509=) GRCh37: Chr3:69167979 GRCh38: Chr3:69118828	LMOD3		Nemaline myopathy 10	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 163386364.	NM_198271.5(LMOD3):c.1680G>A (p.Ala560=) GRCh37: Chr3:69158249 GRCh38: Chr3:69109098	LMOD3		Nemaline myopathy 10	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 162277865.	NM_198271.5(LMOD3):c.1095G>A (p.Lys365=) GRCh37: Chr3:69168411 GRCh38: Chr3:69119260	LMOD3		Nemaline myopathy 10	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 162098566.	NM_198271.5(LMOD3):c.294+17G>A GRCh37: Chr3:69171227 GRCh38: Chr3:69122076	LMOD3, LOC126806710		Nemaline myopathy 10	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 158583467.	NM_198271.5(LMOD3):c.522A>G (p.Glu174=) GRCh37: Chr3:69168984 GRCh38: Chr3:69119833	LMOD3		Nemaline myopathy 10	Likely benign (Feb 22, 2021)	criteria provided, single submitter
Select item 157322768.	NM_198271.5(LMOD3):c.459T>C (p.Asp153=) GRCh37: Chr3:69169047 GRCh38: Chr3:69119896	LMOD3		Nemaline myopathy 10	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 156975769.	NM_198271.5(LMOD3):c.1657-14T>C GRCh37: Chr3:69158286 GRCh38: Chr3:69109135	LMOD3		Nemaline myopathy 10	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 156795070.	NM_198271.5(LMOD3):c.1246C>T (p.Leu416=) GRCh37: Chr3:69168260 GRCh38: Chr3:69119109	LMOD3		Nemaline myopathy 10	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 156324871.	NM_198271.5(LMOD3):c.294+15G>A GRCh37: Chr3:69171229 GRCh38: Chr3:69122078	LMOD3, LOC126806710		Nemaline myopathy 10	Likely benign (Nov 1, 2021)	criteria provided, single submitter
Select item 154444672.	NM_198271.5(LMOD3):c.1338C>T (p.Phe446=) GRCh37: Chr3:69168168 GRCh38: Chr3:69119017	LMOD3		Nemaline myopathy 10	Likely benign (May 17, 2021)	criteria provided, single submitter
Select item 153265173.	NM_198271.5(LMOD3):c.1416A>T (p.Pro472=) GRCh37: Chr3:69168090 GRCh38: Chr3:69118939	LMOD3		Nemaline myopathy 10	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 152896674.	NM_198271.5(LMOD3):c.295-4G>A GRCh37: Chr3:69169215 GRCh38: Chr3:69120064	LMOD3		Nemaline myopathy 10	Likely benign (Apr 6, 2021)	criteria provided, single submitter
Select item 152535875.	NM_198271.5(LMOD3):c.43G>C (p.Asp15His) GRCh37: Chr3:69171495 GRCh38: Chr3:69122344	LMOD3, LOC126806710	D15H	Nemaline myopathy 10	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 152229876.	NM_198271.5(LMOD3):c.832A>G (p.Met278Val) GRCh37: Chr3:69168674 GRCh38: Chr3:69119523	LMOD3	M278V	Nemaline myopathy 10	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 151619477.	NM_198271.5(LMOD3):c.263A>T (p.Glu88Val) GRCh37: Chr3:69171275 GRCh38: Chr3:69122124	LOC126806710, LMOD3	E88V	Nemaline myopathy 10	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 151393378.	NM_198271.5(LMOD3):c.695C>T (p.Thr232Ile) GRCh37: Chr3:69168811 GRCh38: Chr3:69119660	LMOD3	T232I	Nemaline myopathy 10	Uncertain significance (Aug 19, 2021)	criteria provided, single submitter
Select item 151202779.	NM_198271.5(LMOD3):c.392A>G (p.Lys131Arg) GRCh37: Chr3:69169114 GRCh38: Chr3:69119963	LMOD3	K131R	Nemaline myopathy 10	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 150304380.	NM_198271.5(LMOD3):c.295-5T>C GRCh37: Chr3:69169216 GRCh38: Chr3:69120065	LMOD3		Nemaline myopathy 10	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 150130981.	NM_198271.5(LMOD3):c.413G>A (p.Ser138Asn) GRCh37: Chr3:69169093 GRCh38: Chr3:69119942	LMOD3	S138N	Nemaline myopathy 10	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 149883782.	NM_198271.5(LMOD3):c.495G>C (p.Glu165Asp) GRCh37: Chr3:69169011 GRCh38: Chr3:69119860	LMOD3	E165D	Inborn genetic diseases, Nemaline myopathy 10	Uncertain significance (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149048983.	NM_198271.5(LMOD3):c.1355C>T (p.Pro452Leu) GRCh37: Chr3:69168151 GRCh38: Chr3:69119000	LMOD3	P452L	Nemaline myopathy 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 148519284.	NM_198271.5(LMOD3):c.1593A>C (p.Glu531Asp) GRCh37: Chr3:69167913 GRCh38: Chr3:69118762	LMOD3	E531D	Nemaline myopathy 10, Inborn genetic diseases	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148393285.	NM_198271.5(LMOD3):c.1160C>T (p.Thr387Ile) GRCh37: Chr3:69168346 GRCh38: Chr3:69119195	LMOD3	T387I	Nemaline myopathy 10	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter
Select item 148303086.	NM_198271.5(LMOD3):c.1130T>C (p.Phe377Ser) GRCh37: Chr3:69168376 GRCh38: Chr3:69119225	LMOD3	F377S	Nemaline myopathy 10, Inborn genetic diseases	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148269387.	NM_198271.5(LMOD3):c.823G>A (p.Val275Ile) GRCh37: Chr3:69168683 GRCh38: Chr3:69119532	LMOD3	V275I	Nemaline myopathy 10	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 148105788.	NM_198271.5(LMOD3):c.1642G>A (p.Ala548Thr) GRCh37: Chr3:69167864 GRCh38: Chr3:69118713	LMOD3	A548T	Nemaline myopathy 10	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 147912489.	NM_198271.5(LMOD3):c.1473_1475del (p.Arg492del) GRCh37: Chr3:69168031-69168033 GRCh38: Chr3:69118880-69118882	LMOD3	R492del	Nemaline myopathy 10	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 147787090.	NM_198271.5(LMOD3):c.1449C>A (p.Asp483Glu) GRCh37: Chr3:69168057 GRCh38: Chr3:69118906	LMOD3	D483E	Nemaline myopathy 10	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 147388391.	NM_198271.5(LMOD3):c.1234G>A (p.Glu412Lys) GRCh37: Chr3:69168272 GRCh38: Chr3:69119121	LMOD3	E412K	Nemaline myopathy 10	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 147362592.	NM_198271.5(LMOD3):c.230G>T (p.Trp77Leu) GRCh37: Chr3:69171308 GRCh38: Chr3:69122157	LOC126806710, LMOD3	W77L	Nemaline myopathy 10	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 147281793.	NM_198271.5(LMOD3):c.1628G>A (p.Arg543His) GRCh37: Chr3:69167878 GRCh38: Chr3:69118727	LMOD3	R543H	Inborn genetic diseases, Nemaline myopathy 10	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147246894.	NM_198271.5(LMOD3):c.1656+1G>C GRCh37: Chr3:69167849 GRCh38: Chr3:69118698	LMOD3		Nemaline myopathy 10	Uncertain significance (Aug 18, 2021)	criteria provided, single submitter
Select item 147109895.	NM_198271.5(LMOD3):c.777C>A (p.Asn259Lys) GRCh37: Chr3:69168729 GRCh38: Chr3:69119578	LMOD3	N259K	Nemaline myopathy 10	Uncertain significance (Aug 7, 2021)	criteria provided, single submitter
Select item 147061196.	NM_198271.5(LMOD3):c.1540G>A (p.Val514Ile) GRCh37: Chr3:69167966 GRCh38: Chr3:69118815	LMOD3	V514I	Nemaline myopathy 10	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 146621697.	NM_198271.5(LMOD3):c.461A>G (p.Asp154Gly) GRCh37: Chr3:69169045 GRCh38: Chr3:69119894	LMOD3	D154G	Nemaline myopathy 10, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 5, 2021)	criteria provided, conflicting interpretations
Select item 145746898.	NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer) GRCh37: Chr3:69171443-69171458 GRCh38: Chr3:69122292-69122307	LMOD3, LOC126806710		Nemaline myopathy 10	Pathogenic (Oct 28, 2020)	criteria provided, single submitter
Select item 145161899.	NM_198271.5(LMOD3):c.1219C>T (p.Gln407Ter) GRCh37: Chr3:69168287 GRCh38: Chr3:69119136	LMOD3	Q407*	Nemaline myopathy 10	Pathogenic (Aug 19, 2021)	criteria provided, single submitter
Select item 1451345100.	NM_198271.5(LMOD3):c.704C>G (p.Ser235Ter) GRCh37: Chr3:69168802 GRCh38: Chr3:69119651	LMOD3	S235*	Nemaline myopathy 10	Pathogenic (Sep 9, 2022)	criteria provided, single submitter

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