ClinVar for MedGen (Select 1648314) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25000531.	NM_007078.3(LDB3):c.389_390insCAGGCACCC (p.Pro130_Gly131insArgHisPro) GRCh37: Chr10:88441257-88441258 GRCh38: Chr10:86681500-86681501	LDB3		Myofibrillar myopathy 4, Dilated cardiomyopathy 1C	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24236352.	NC_000010.10:g.(?_88428449)_(88428561_?)dup GRCh37: Chr10:88428449-88428561	LDB3		Myofibrillar myopathy 4	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 21992473.	NM_007078.3(LDB3):c.1396G>A (p.Ala466Thr) GRCh37: Chr10:88476248 GRCh38: Chr10:86716491	LDB3	A419T, A471T, A403T, A356T, A466T	Myofibrillar myopathy 4	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 21981394.	NM_007078.3(LDB3):c.252G>A (p.Lys84=) GRCh37: Chr10:88439845 GRCh38: Chr10:86680088	LDB3		Myofibrillar myopathy 4	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 21968145.	NM_001368067.1(LDB3):c.389C>T (p.Ser130Leu) GRCh37: Chr10:88446870 GRCh38: Chr10:86687113	LDB3, LOC110121486	S130L, S245L	Myofibrillar myopathy 4	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 21963656.	NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr) GRCh37: Chr10:88428461-88428462 GRCh38: Chr10:86668704-86668705	LDB3		Cardiovascular phenotype, Myofibrillar myopathy 4	Uncertain significance (Feb 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21960897.	NM_007078.3(LDB3):c.1979-7A>C GRCh37: Chr10:88485887 GRCh38: Chr10:86726130	LDB3		Myofibrillar myopathy 4	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 21950968.	NM_007078.3(LDB3):c.2164G>T (p.Ala722Ser) GRCh37: Chr10:88492713 GRCh38: Chr10:86732956	LDB3	A675S, A727S, A612S, A722S, A659S	Myofibrillar myopathy 4	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 21928849.	NM_007078.3(LDB3):c.937A>G (p.Thr313Ala) GRCh37: Chr10:88466328 GRCh38: Chr10:86706571	LDB3	T266A, T313A	Myofibrillar myopathy 4	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 219168310.	NM_007078.3(LDB3):c.456CTC[1] (p.Ser154del) GRCh37: Chr10:88441327-88441329 GRCh38: Chr10:86681570-86681572	LDB3	S154del	Myofibrillar myopathy 4	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 218945811.	NM_007078.3(LDB3):c.2147C>T (p.Pro716Leu) GRCh37: Chr10:88492696 GRCh38: Chr10:86732939	LDB3	P606L, P721L, P669L, P653L, P716L	Myofibrillar myopathy 4	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 218875112.	NM_007078.3(LDB3):c.1676+7T>C GRCh37: Chr10:88476535 GRCh38: Chr10:86716778	LDB3		Myofibrillar myopathy 4	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 218630113.	NM_007078.3(LDB3):c.1857+12G>A GRCh37: Chr10:88477913 GRCh38: Chr10:86718156	LDB3		Myofibrillar myopathy 4	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 218550514.	NM_007078.3(LDB3):c.706G>C (p.Asp236His) GRCh37: Chr10:88451669 GRCh38: Chr10:86691912	LDB3	D304H, D189H, D236H	Myofibrillar myopathy 4	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 218434115.	NM_007078.3(LDB3):c.1370C>T (p.Pro457Leu) GRCh37: Chr10:88476222 GRCh38: Chr10:86716465	LDB3	P457L, P347L, P410L, P462L, P394L	Myofibrillar myopathy 4	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 218296616.	NM_007078.3(LDB3):c.407C>G (p.Pro136Arg) GRCh37: Chr10:88441278 GRCh38: Chr10:86681521	LDB3	P136R	Myofibrillar myopathy 4	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 218170717.	NM_007078.3(LDB3):c.1858-15G>A GRCh37: Chr10:88478469 GRCh38: Chr10:86718712	LDB3		Myofibrillar myopathy 4	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 217960318.	NM_007078.3(LDB3):c.662A>G (p.Lys221Arg) GRCh37: Chr10:88441533 GRCh38: Chr10:86681776	LDB3	K221R	Myofibrillar myopathy 4	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 217837119.	NM_007078.3(LDB3):c.689+11G>A GRCh37: Chr10:88441571 GRCh38: Chr10:86681814	LDB3		Myofibrillar myopathy 4	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 217782520.	NM_007078.3(LDB3):c.1419C>T (p.Pro473=) GRCh37: Chr10:88476271 GRCh38: Chr10:86716514	LDB3		Myofibrillar myopathy 4	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 217667621.	NM_007078.3(LDB3):c.1543C>T (p.Pro515Ser) GRCh37: Chr10:88476395 GRCh38: Chr10:86716638	LDB3	P452S, P468S, P405S, P515S, P520S	Myofibrillar myopathy 4	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 217340222.	NM_007078.3(LDB3):c.321+18C>T GRCh37: Chr10:88439932 GRCh38: Chr10:86680175	LDB3		Myofibrillar myopathy 4	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 216688123.	NM_007078.3(LDB3):c.1232-6_1232-5delinsGG GRCh37: Chr10:88476078-88476079 GRCh38: Chr10:86716321-86716322	LDB3		Myofibrillar myopathy 4	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 216558224.	NM_001368067.1(LDB3):c.813C>T (p.His271=) GRCh37: Chr10:88459092 GRCh38: Chr10:86699335	LDB3		Myofibrillar myopathy 4	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 216328525.	NM_007078.3(LDB3):c.327C>T (p.Pro109=) GRCh37: Chr10:88441198 GRCh38: Chr10:86681441	LDB3		Myofibrillar myopathy 4	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 215907726.	NM_001368067.1(LDB3):c.848G>A (p.Ser283Asn) GRCh37: Chr10:88459127 GRCh38: Chr10:86699370	LDB3	S283N, S398N, S330N	Myofibrillar myopathy 4	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 215825327.	NM_007078.3(LDB3):c.1134T>C (p.Pro378=) GRCh37: Chr10:88469710 GRCh38: Chr10:86709953	LDB3		Myofibrillar myopathy 4	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 215527228.	NM_007078.3(LDB3):c.497C>A (p.Ala166Asp) GRCh37: Chr10:88441368 GRCh38: Chr10:86681611	LDB3	A166D	Myofibrillar myopathy 4	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 215360729.	NM_007078.3(LDB3):c.1407_1408dup (p.Asn470fs) GRCh37: Chr10:88476256-88476257 GRCh38: Chr10:86716499-86716500	LDB3	N360fs, N407fs, N475fs, N423fs, N470fs	Myofibrillar myopathy 4	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 215045830.	NM_007078.3(LDB3):c.94-17C>T GRCh37: Chr10:88439107 GRCh38: Chr10:86679350	LDB3		Myofibrillar myopathy 4	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 214514631.	NM_007078.3(LDB3):c.897-17T>C GRCh37: Chr10:88466271 GRCh38: Chr10:86706514	LDB3		Myofibrillar myopathy 4	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 214094832.	NM_007078.3(LDB3):c.690-4618C>T GRCh37: Chr10:88447035 GRCh38: Chr10:86687278	LDB3, LOC110121486		Myofibrillar myopathy 4	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 213930033.	NM_007078.3(LDB3):c.321+19G>C GRCh37: Chr10:88439933 GRCh38: Chr10:86680176	LDB3		Myofibrillar myopathy 4	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 213307134.	NM_007078.3(LDB3):c.1161C>T (p.Gly387=) GRCh37: Chr10:88469737 GRCh38: Chr10:86709980	LDB3		Myofibrillar myopathy 4	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 213230335.	NM_007078.3(LDB3):c.495G>A (p.Arg165=) GRCh37: Chr10:88441366 GRCh38: Chr10:86681609	LDB3		Myofibrillar myopathy 4	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 213092936.	NM_007078.3(LDB3):c.2167C>T (p.His723Tyr) GRCh37: Chr10:88492716 GRCh38: Chr10:86732959	LDB3	H613Y, H723Y, H660Y, H676Y, H728Y	Myofibrillar myopathy 4	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 212721937.	NM_007078.3(LDB3):c.74T>C (p.Met25Thr) GRCh37: Chr10:88428522 GRCh38: Chr10:86668765	LDB3	M25T	Myofibrillar myopathy 4	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 212539538.	NM_007078.3(LDB3):c.1234C>G (p.Pro412Ala) GRCh37: Chr10:88476086 GRCh38: Chr10:86716329	LDB3	P302A, P349A, P365A, P412A, P417A	Myofibrillar myopathy 4	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212484239.	NM_007078.3(LDB3):c.445C>T (p.Pro149Ser) GRCh37: Chr10:88441316 GRCh38: Chr10:86681559	LDB3	P149S	Myofibrillar myopathy 4	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 212410440.	NM_007078.3(LDB3):c.2062C>T (p.His688Tyr) GRCh37: Chr10:88485977 GRCh38: Chr10:86726220	LDB3	H641Y, H688Y, H693Y, H578Y, H625Y	Myofibrillar myopathy 4	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 212318641.	NM_007078.3(LDB3):c.211T>G (p.Ser71Ala) GRCh37: Chr10:88439241 GRCh38: Chr10:86679484	LDB3	S71A	Myofibrillar myopathy 4	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 212121642.	NM_007078.3(LDB3):c.322-6_322-5del GRCh37: Chr10:88441185-88441186 GRCh38: Chr10:86681428-86681429	LDB3		Myofibrillar myopathy 4	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 212102543.	NM_007078.3(LDB3):c.147G>T (p.Val49=) GRCh37: Chr10:88439177 GRCh38: Chr10:86679420	LDB3		Myofibrillar myopathy 4	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 211969244.	NM_007078.3(LDB3):c.1211G>T (p.Arg404Leu) GRCh37: Chr10:88469787 GRCh38: Chr10:86710030	LDB3	R357L, R409L, R341L, R294L, R404L	Myofibrillar myopathy 4	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211737645.	NM_007078.3(LDB3):c.1231+16G>A GRCh37: Chr10:88469823 GRCh38: Chr10:86710066	LDB3		Myofibrillar myopathy 4	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 211628646.	NM_007078.3(LDB3):c.1186C>A (p.Arg396=) GRCh37: Chr10:88469762 GRCh38: Chr10:86710005	LDB3		Myofibrillar myopathy 4	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 211512447.	NM_007078.3(LDB3):c.1835A>T (p.Lys612Met) GRCh37: Chr10:88477879 GRCh38: Chr10:86718122	LDB3	K617M, K502M, K549M, K565M, K612M	Myofibrillar myopathy 4	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211509448.	NM_007078.3(LDB3):c.1156G>A (p.Glu386Lys) GRCh37: Chr10:88469732 GRCh38: Chr10:86709975	LDB3	E323K, E339K, E276K, E386K, E391K	Myofibrillar myopathy 4	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 211114349.	NM_007078.3(LDB3):c.1231+8del GRCh37: Chr10:88469814 GRCh38: Chr10:86710057	LDB3		Myofibrillar myopathy 4	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210754050.	NM_007078.3(LDB3):c.1752G>T (p.Leu584=) GRCh37: Chr10:88477796 GRCh38: Chr10:86718039	LDB3		Myofibrillar myopathy 4	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 210512651.	NM_007078.3(LDB3):c.578G>A (p.Arg193Lys) GRCh37: Chr10:88441449 GRCh38: Chr10:86681692	LDB3	R193K	Myofibrillar myopathy 4	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 209938552.	NM_007078.3(LDB3):c.1857G>T (p.Gly619=) GRCh37: Chr10:88477901 GRCh38: Chr10:86718144	LDB3		Myofibrillar myopathy 4	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 209326853.	NM_007078.3(LDB3):c.2031G>T (p.Glu677Asp) GRCh37: Chr10:88485946 GRCh38: Chr10:86726189	LDB3	E630D, E682D, E567D, E614D, E677D	Myofibrillar myopathy 4	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 209029354.	NM_007078.3(LDB3):c.690-9G>A GRCh37: Chr10:88451644 GRCh38: Chr10:86691887	LDB3		Myofibrillar myopathy 4	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 207832655.	NM_007078.3(LDB3):c.12T>C (p.Ser4=) GRCh37: Chr10:88428460 GRCh38: Chr10:86668703	LDB3		Myofibrillar myopathy 4	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 207752456.	NM_007078.3(LDB3):c.635A>T (p.Gln212Leu) GRCh37: Chr10:88441506 GRCh38: Chr10:86681749	LDB3	Q212L	Myofibrillar myopathy 4	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 207682557.	NM_007078.3(LDB3):c.584A>G (p.Tyr195Cys) GRCh37: Chr10:88441455 GRCh38: Chr10:86681698	LDB3	Y195C	Myofibrillar myopathy 4	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 207543158.	NM_007078.3(LDB3):c.1867C>A (p.His623Asn) GRCh37: Chr10:88478493 GRCh38: Chr10:86718736	LDB3	H513N, H623N, H628N, H560N, H576N	Myofibrillar myopathy 4	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 207253959.	NM_007078.3(LDB3):c.1314C>A (p.Thr438=) GRCh37: Chr10:88476166 GRCh38: Chr10:86716409	LDB3		Myofibrillar myopathy 4	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 207085460.	NM_007078.3(LDB3):c.2147C>A (p.Pro716His) GRCh37: Chr10:88492696 GRCh38: Chr10:86732939	LDB3	P721H, P653H, P669H, P606H, P716H	Myofibrillar myopathy 4	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 206435961.	NM_007078.3(LDB3):c.299T>C (p.Leu100Pro) GRCh37: Chr10:88439892 GRCh38: Chr10:86680135	LDB3	L100P	Myofibrillar myopathy 4	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 206333762.	NM_007078.3(LDB3):c.859+15T>C GRCh37: Chr10:88451837 GRCh38: Chr10:86692080	LDB3		Myofibrillar myopathy 4	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 206235663.	NM_007078.3(LDB3):c.860-20C>G GRCh37: Chr10:88452272 GRCh38: Chr10:86692515	LDB3		Myofibrillar myopathy 4	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 205366564.	NM_007078.3(LDB3):c.903T>G (p.Pro301=) GRCh37: Chr10:88466294 GRCh38: Chr10:86706537	LDB3		Myofibrillar myopathy 4	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 204880665.	NM_007078.3(LDB3):c.1702C>T (p.Arg568Cys) GRCh37: Chr10:88477746 GRCh38: Chr10:86717989	LDB3	R458C, R521C, R573C, R568C, R505C	Myofibrillar myopathy 4	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 204779366.	NM_007078.3(LDB3):c.1677-18C>T GRCh37: Chr10:88477703 GRCh38: Chr10:86717946	LDB3		Myofibrillar myopathy 4	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 204567767.	NM_007078.3(LDB3):c.508G>A (p.Ala170Thr) GRCh37: Chr10:88441379 GRCh38: Chr10:86681622	LDB3	A170T	Myofibrillar myopathy 4	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 204125068.	NM_007078.3(LDB3):c.325C>T (p.Pro109Ser) GRCh37: Chr10:88441196 GRCh38: Chr10:86681439	LDB3	P109S	Myofibrillar myopathy 4	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 203857869.	NM_007078.3(LDB3):c.46C>T (p.Arg16Cys) GRCh37: Chr10:88428494 GRCh38: Chr10:86668737	LDB3	R16C	Myofibrillar myopathy 4	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 203448270.	NM_007078.3(LDB3):c.785_818dup (p.Ser274fs) GRCh37: Chr10:88451745-88451746 GRCh38: Chr10:86691988-86691989	LDB3	S227fs, S274fs, S342fs	Myofibrillar myopathy 4	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 203097871.	NM_007078.3(LDB3):c.1714C>T (p.Pro572Ser) GRCh37: Chr10:88477758 GRCh38: Chr10:86718001	LDB3	P462S, P525S, P572S, P509S, P577S	Myofibrillar myopathy 4	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 202583472.	NM_007078.3(LDB3):c.1845C>T (p.Thr615=) GRCh37: Chr10:88477889 GRCh38: Chr10:86718132	LDB3		Myofibrillar myopathy 4	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 202084673.	NM_007078.3(LDB3):c.616A>G (p.Thr206Ala) GRCh37: Chr10:88441487 GRCh38: Chr10:86681730	LDB3	T206A	Myofibrillar myopathy 4	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 202044174.	NM_007078.3(LDB3):c.369C>T (p.Ser123=) GRCh37: Chr10:88441240 GRCh38: Chr10:86681483	LDB3		Myofibrillar myopathy 4	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 202018975.	NM_007078.3(LDB3):c.1206C>T (p.Ser402=) GRCh37: Chr10:88469782 GRCh38: Chr10:86710025	LDB3		Myofibrillar myopathy 4	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 201984176.	NM_007078.3(LDB3):c.1647A>G (p.Pro549=) GRCh37: Chr10:88476499 GRCh38: Chr10:86716742	LDB3		Myofibrillar myopathy 4	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 201225777.	NM_001368067.1(LDB3):c.790T>A (p.Phe264Ile) GRCh37: Chr10:88459069 GRCh38: Chr10:86699312	LDB3	F264I, F379I, F311I	Myofibrillar myopathy 4	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 201137278.	NM_001368067.1(LDB3):c.779A>C (p.Asn260Thr) GRCh37: Chr10:88459058 GRCh38: Chr10:86699301	LDB3	N375T, N307T, N260T	Myofibrillar myopathy 4	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 201017279.	NM_007078.3(LDB3):c.327del (p.Ala110fs) GRCh37: Chr10:88441195 GRCh38: Chr10:86681438	LDB3	A110fs	Myofibrillar myopathy 4	Uncertain significance (Nov 27, 2021)	criteria provided, single submitter
Select item 201003580.	NM_007078.3(LDB3):c.1023C>T (p.Ala341=) GRCh37: Chr10:88466414 GRCh38: Chr10:86706657	LDB3		Myofibrillar myopathy 4	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 200850881.	NM_007078.3(LDB3):c.1864A>T (p.Met622Leu) GRCh37: Chr10:88478490 GRCh38: Chr10:86718733	LDB3	M559L, M512L, M622L, M575L, M627L	Myofibrillar myopathy 4	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 200841482.	NM_007078.3(LDB3):c.722G>A (p.Ser241Asn) GRCh37: Chr10:88451685 GRCh38: Chr10:86691928	LDB3	S309N, S194N, S241N	Myofibrillar myopathy 4	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 200766983.	NM_007078.3(LDB3):c.523G>A (p.Glu175Lys) GRCh37: Chr10:88441394 GRCh38: Chr10:86681637	LDB3	E175K	Myofibrillar myopathy 4	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 200683784.	NM_001368067.1(LDB3):c.829C>A (p.Gln277Lys) GRCh37: Chr10:88459108 GRCh38: Chr10:86699351	LDB3	Q277K, Q324K, Q392K	Myofibrillar myopathy 4	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200543985.	NM_007078.3(LDB3):c.226T>C (p.Leu76=) GRCh37: Chr10:88439256 GRCh38: Chr10:86679499	LDB3		Myofibrillar myopathy 4	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 200375086.	NM_007078.3(LDB3):c.89C>G (p.Ser30Cys) GRCh37: Chr10:88428537 GRCh38: Chr10:86668780	LDB3	S30C	Myofibrillar myopathy 4	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 200151287.	NM_007078.3(LDB3):c.1297C>A (p.Pro433Thr) GRCh37: Chr10:88476149 GRCh38: Chr10:86716392	LDB3	P438T, P370T, P386T, P323T, P433T	Myofibrillar myopathy 4	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 200127288.	NM_007078.3(LDB3):c.470A>G (p.Glu157Gly) GRCh37: Chr10:88441341 GRCh38: Chr10:86681584	LDB3	E157G	Myofibrillar myopathy 4	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 199932489.	NM_007078.3(LDB3):c.1725C>T (p.Phe575=) GRCh37: Chr10:88477769 GRCh38: Chr10:86718012	LDB3		Myofibrillar myopathy 4	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 199530890.	NM_007078.3(LDB3):c.500G>A (p.Ser167Asn) GRCh37: Chr10:88441371 GRCh38: Chr10:86681614	LDB3	S167N	Myofibrillar myopathy 4	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 199449391.	NM_007078.3(LDB3):c.322-5G>A GRCh37: Chr10:88441188 GRCh38: Chr10:86681431	LDB3		Myofibrillar myopathy 4	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 199399292.	NM_007078.3(LDB3):c.1745C>T (p.Thr582Ile) GRCh37: Chr10:88477789 GRCh38: Chr10:86718032	LDB3	T519I, T472I, T535I, T582I, T587I	Myofibrillar myopathy 4	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 199372793.	NM_007078.3(LDB3):c.2108A>G (p.Asn703Ser) GRCh37: Chr10:88492657 GRCh38: Chr10:86732900	LDB3	N593S, N656S, N703S, N640S, N708S	Myofibrillar myopathy 4	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 198653894.	NM_007078.3(LDB3):c.565T>G (p.Ser189Ala) GRCh37: Chr10:88441436 GRCh38: Chr10:86681679	LDB3	S189A	Myofibrillar myopathy 4	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 198490895.	NM_007078.3(LDB3):c.1835A>G (p.Lys612Arg) GRCh37: Chr10:88477879 GRCh38: Chr10:86718122	LDB3	K565R, K502R, K612R, K549R, K617R	Myofibrillar myopathy 4	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 198207496.	NM_001368067.1(LDB3):c.468G>T (p.Thr156=) GRCh37: Chr10:88446949 GRCh38: Chr10:86687192	LDB3, LOC110121486		Myofibrillar myopathy 4	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 197700797.	NM_007078.3(LDB3):c.2175C>T (p.Ile725=) GRCh37: Chr10:88492724 GRCh38: Chr10:86732967	LDB3		Myofibrillar myopathy 4	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 197470198.	NM_007078.3(LDB3):c.183C>T (p.Thr61=) GRCh37: Chr10:88439213 GRCh38: Chr10:86679456	LDB3		Myofibrillar myopathy 4	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 197188199.	NM_007078.3(LDB3):c.1186C>G (p.Arg396Gly) GRCh37: Chr10:88469762 GRCh38: Chr10:86710005	LDB3	R401G, R396G, R286G, R333G, R349G	Myofibrillar myopathy 4	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 1971331100.	NM_007078.3(LDB3):c.2094+18G>A GRCh37: Chr10:88486027 GRCh38: Chr10:86726270	LDB3		Myofibrillar myopathy 4	Likely benign (Feb 7, 2022)	criteria provided, single submitter

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