ClinVar for MedGen (Select 811509) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24209681.	NM_006790.3(MYOT):c.1325-1G>A GRCh37: Chr5:137222901 GRCh38: Chr5:137887212	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 23006332.	NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu) GRCh37: Chr5:137222955 GRCh38: Chr5:137887266	MYOT, PKD2L2-DT	F276L, F345L, F460L	Myofibrillar myopathy 3, Inborn genetic diseases, not provided	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22016443.	NM_006790.3(MYOT):c.1454G>A (p.Arg485His) GRCh37: Chr5:137223031 GRCh38: Chr5:137887342	MYOT, PKD2L2-DT	R301H, R370H, R485H	Myofibrillar myopathy 3	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 21990014.	NM_006790.3(MYOT):c.1366G>A (p.Val456Ile) GRCh37: Chr5:137222943 GRCh38: Chr5:137887254	MYOT, PKD2L2-DT	V341I, V272I, V456I	Myofibrillar myopathy 3	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 21986035.	NM_006790.3(MYOT):c.983G>A (p.Arg328Lys) GRCh37: Chr5:137219239 GRCh38: Chr5:137883550	MYOT, PKD2L2-DT	R328K, R144K, R213K	Myofibrillar myopathy 3	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 21897956.	NM_006790.3(MYOT):c.1041A>G (p.Arg347=) GRCh37: Chr5:137221753 GRCh38: Chr5:137886064	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 21677257.	NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu) GRCh37: Chr5:137221830 GRCh38: Chr5:137886141	MYOT, PKD2L2-DT	S189L, S258L, S373L	Myofibrillar myopathy 3	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 21563498.	NM_006790.3(MYOT):c.866C>G (p.Thr289Arg) GRCh37: Chr5:137219122 GRCh38: Chr5:137883433	MYOT, PKD2L2-DT	T105R, T174R, T289R	not provided, Myofibrillar myopathy 3	Uncertain significance (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21539109.	NM_006790.3(MYOT):c.118A>G (p.Ile40Val) GRCh37: Chr5:137206458 GRCh38: Chr5:137870769	MYOT, PKD2L2-DT	I40V	Myofibrillar myopathy 3	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 215265910.	NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser) GRCh37: Chr5:137222656 GRCh38: Chr5:137886967	MYOT, PKD2L2-DT	T317S, T248S, T432S	not provided, not specified, Myofibrillar myopathy 3	Uncertain significance (Jun 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215049111.	NM_006790.3(MYOT):c.364C>T (p.Gln122Ter) GRCh37: Chr5:137211525 GRCh38: Chr5:137875836	MYOT, PKD2L2-DT	Q7, Q122	Myofibrillar myopathy 3	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 214128212.	NM_006790.3(MYOT):c.1113G>C (p.Gln371His) GRCh37: Chr5:137221825 GRCh38: Chr5:137886136	MYOT, PKD2L2-DT	Q187H, Q256H, Q371H	Myofibrillar myopathy 3	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 213944113.	NM_006790.3(MYOT):c.683+8A>T GRCh37: Chr5:137216562 GRCh38: Chr5:137880873	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 212868814.	NM_006790.3(MYOT):c.667C>T (p.Pro223Ser) GRCh37: Chr5:137216538 GRCh38: Chr5:137880849	MYOT, PKD2L2-DT	P108S, P223S, P39S	Myofibrillar myopathy 3	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 212745015.	NM_006790.3(MYOT):c.709G>A (p.Val237Met) GRCh37: Chr5:137217687 GRCh38: Chr5:137881998	MYOT, PKD2L2-DT	V237M, V122M, V53M	Myofibrillar myopathy 3	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 212673416.	NM_006790.3(MYOT):c.1439_1441del (p.Glu480del) GRCh37: Chr5:137223014-137223016 GRCh38: Chr5:137887325-137887327	MYOT, PKD2L2-DT	E480del, E365del, E296del	Myofibrillar myopathy 3	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 212431917.	NM_006790.3(MYOT):c.1417dup (p.Val473fs) GRCh37: Chr5:137222993-137222994 GRCh38: Chr5:137887304-137887305	MYOT, PKD2L2-DT	V289fs, V473fs, V358fs	Myofibrillar myopathy 3	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 211514618.	NM_006790.3(MYOT):c.884T>G (p.Leu295Trp) GRCh37: Chr5:137219140 GRCh38: Chr5:137883451	MYOT, PKD2L2-DT	L180W, L295W, L111W	Myofibrillar myopathy 3	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211340519.	NM_006790.3(MYOT):c.1175A>G (p.Asn392Ser) GRCh37: Chr5:137221887 GRCh38: Chr5:137886198	PKD2L2-DT, MYOT	N208S, N277S, N392S	Myofibrillar myopathy 3	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 210310620.	NM_006790.3(MYOT):c.53G>T (p.Gly18Val) GRCh37: Chr5:137206393 GRCh38: Chr5:137870704	MYOT, PKD2L2-DT	G18V	Myofibrillar myopathy 3	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 210263921.	NM_006790.3(MYOT):c.318T>A (p.Asp106Glu) GRCh37: Chr5:137206658 GRCh38: Chr5:137870969	MYOT, PKD2L2-DT	D106E	Myofibrillar myopathy 3	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 210016222.	NM_006790.3(MYOT):c.1006G>C (p.Val336Leu) GRCh37: Chr5:137219262 GRCh38: Chr5:137883573	MYOT, PKD2L2-DT	V152L, V221L, V336L	Myofibrillar myopathy 3	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 210016123.	NM_006790.3(MYOT):c.972T>A (p.Val324=) GRCh37: Chr5:137219228 GRCh38: Chr5:137883539	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 209465724.	NM_006790.3(MYOT):c.49T>A (p.Cys17Ser) GRCh37: Chr5:137206389 GRCh38: Chr5:137870700	MYOT, PKD2L2-DT	C17S	Myofibrillar myopathy 3	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209295925.	NM_006790.3(MYOT):c.156T>C (p.Phe52=) GRCh37: Chr5:137206496 GRCh38: Chr5:137870807	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 209206026.	NM_006790.3(MYOT):c.1190+18A>G GRCh37: Chr5:137221920 GRCh38: Chr5:137886231	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 208839927.	NM_006790.3(MYOT):c.469T>C (p.Leu157=) GRCh37: Chr5:137211630 GRCh38: Chr5:137875941	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Feb 15, 2022)	criteria provided, single submitter
Select item 208536028.	NM_006790.3(MYOT):c.1167A>G (p.Val389=) GRCh37: Chr5:137221879 GRCh38: Chr5:137886190	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 208267129.	NM_006790.3(MYOT):c.690A>G (p.Arg230=) GRCh37: Chr5:137217668 GRCh38: Chr5:137881979	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 207081730.	NC_000005.10:g.137881974_137881979del GRCh37: Chr5:137217658-137217663 GRCh38: Chr5:137881969-137881974	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 206628131.	NM_006790.3(MYOT):c.935T>C (p.Val312Ala) GRCh37: Chr5:137219191 GRCh38: Chr5:137883502	MYOT, PKD2L2-DT	V197A, V312A, V128A	Myofibrillar myopathy 3	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 205949932.	NM_006790.3(MYOT):c.16C>T (p.Arg6Cys) GRCh37: Chr5:137206356 GRCh38: Chr5:137870667	MYOT, PKD2L2-DT	R6C	Myofibrillar myopathy 3	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 205267833.	NM_006790.3(MYOT):c.684-11T>C GRCh37: Chr5:137217651 GRCh38: Chr5:137881962	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 204194334.	NM_006790.3(MYOT):c.524G>T (p.Gly175Val) GRCh37: Chr5:137211685 GRCh38: Chr5:137875996	MYOT, PKD2L2-DT	G60V, G175V	Myofibrillar myopathy 3	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 204164635.	NM_006790.3(MYOT):c.1323G>A (p.Thr441=) GRCh37: Chr5:137222685 GRCh38: Chr5:137886996	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 204042336.	NM_006790.3(MYOT):c.532C>T (p.Arg178Cys) GRCh37: Chr5:137213209 GRCh38: Chr5:137877520	MYOT, PKD2L2-DT	R178C, R63C	Inborn genetic diseases, Myofibrillar myopathy 3	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203955337.	NM_006790.3(MYOT):c.816+16A>G GRCh37: Chr5:137217810 GRCh38: Chr5:137882121	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 201266238.	NM_006790.3(MYOT):c.614G>C (p.Ser205Thr) GRCh37: Chr5:137213291 GRCh38: Chr5:137877602	MYOT, PKD2L2-DT	S205T, S21T, S90T	Myofibrillar myopathy 3	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 199906439.	NM_006790.3(MYOT):c.1231A>C (p.Lys411Gln) GRCh37: Chr5:137222593 GRCh38: Chr5:137886904	MYOT, PKD2L2-DT	K296Q, K411Q, K227Q	Myofibrillar myopathy 3	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 199065540.	NM_006790.3(MYOT):c.684-3T>C GRCh37: Chr5:137217659 GRCh38: Chr5:137881970	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 198895641.	NM_006790.3(MYOT):c.134G>A (p.Arg45His) GRCh37: Chr5:137206474 GRCh38: Chr5:137870785	MYOT, PKD2L2-DT	R45H	Myofibrillar myopathy 3	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 198822342.	NM_006790.3(MYOT):c.714T>C (p.Asn238=) GRCh37: Chr5:137217692 GRCh38: Chr5:137882003	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 198365143.	NM_006790.3(MYOT):c.1322C>T (p.Thr441Met) GRCh37: Chr5:137222684 GRCh38: Chr5:137886995	PKD2L2-DT, MYOT	T441M, T257M, T326M	Myofibrillar myopathy 3	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 197815744.	NM_006790.3(MYOT):c.1318G>A (p.Val440Ile) GRCh37: Chr5:137222680 GRCh38: Chr5:137886991	MYOT, PKD2L2-DT	V256I, V325I, V440I	Myofibrillar myopathy 3	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 197494145.	NM_006790.3(MYOT):c.239A>G (p.Asn80Ser) GRCh37: Chr5:137206579 GRCh38: Chr5:137870890	MYOT, PKD2L2-DT	N80S	Myofibrillar myopathy 3	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 197276346.	NM_006790.3(MYOT):c.1024+5G>A GRCh37: Chr5:137219285 GRCh38: Chr5:137883596	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 195654647.	NM_006790.3(MYOT):c.691T>C (p.Ser231Pro) GRCh37: Chr5:137217669 GRCh38: Chr5:137881980	MYOT, PKD2L2-DT	S116P, S231P, S47P	Myofibrillar myopathy 3	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 195438248.	NM_006790.3(MYOT):c.1327C>G (p.Arg443Gly) GRCh37: Chr5:137222904 GRCh38: Chr5:137887215	MYOT, PKD2L2-DT	R328G, R443G, R259G	Myofibrillar myopathy 3	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 194110149.	NM_006790.3(MYOT):c.137A>G (p.Gln46Arg) GRCh37: Chr5:137206477 GRCh38: Chr5:137870788	MYOT, PKD2L2-DT	Q46R	Myofibrillar myopathy 3	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 194101850.	NM_006790.3(MYOT):c.357-19T>C GRCh37: Chr5:137211499 GRCh38: Chr5:137875810	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 191240951.	NM_006790.3(MYOT):c.1328G>A (p.Arg443His) GRCh37: Chr5:137222905 GRCh38: Chr5:137887216	MYOT, PKD2L2-DT	R443H, R259H, R328H	Myofibrillar myopathy 3	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 190430752.	NM_006790.3(MYOT):c.1168C>T (p.Gln390Ter) GRCh37: Chr5:137221880 GRCh38: Chr5:137886191	MYOT, PKD2L2-DT	Q275, Q390, Q206*	Myofibrillar myopathy 3	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 190181753.	NM_006790.3(MYOT):c.533G>T (p.Arg178Leu) GRCh37: Chr5:137213210 GRCh38: Chr5:137877521	MYOT, PKD2L2-DT	R63L, R178L	Myofibrillar myopathy 3	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 172035954.	NM_006790.3(MYOT):c.815A>C (p.Lys272Thr) GRCh37: Chr5:137217793 GRCh38: Chr5:137882104	MYOT, PKD2L2-DT	K157T, K272T, K88T	Myofibrillar myopathy 3	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 171973955.	NM_006790.3(MYOT):c.725C>T (p.Ala242Val) GRCh37: Chr5:137217703 GRCh38: Chr5:137882014	PKD2L2-DT, MYOT	A127V, A242V, A58V	Myofibrillar myopathy 3	Uncertain significance (Sep 18, 2022)	criteria provided, single submitter
Select item 171530156.	NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu) GRCh37: Chr5:137223031 GRCh38: Chr5:137887342	MYOT, PKD2L2-DT	R301L, R370L, R485L	Myofibrillar myopathy 3	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 167427657.	NM_006790.3(MYOT):c.618T>C (p.Gly206=) GRCh37: Chr5:137213295 GRCh38: Chr5:137877606	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 167157558.	NM_006790.3(MYOT):c.1191-7A>C GRCh37: Chr5:137222546 GRCh38: Chr5:137886857	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Aug 23, 2021)	criteria provided, single submitter
Select item 167080259.	NM_006790.3(MYOT):c.522T>C (p.Asn174=) GRCh37: Chr5:137211683 GRCh38: Chr5:137875994	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jan 11, 2021)	criteria provided, single submitter
Select item 165801960.	NM_006790.3(MYOT):c.48A>C (p.Pro16=) GRCh37: Chr5:137206388 GRCh38: Chr5:137870699	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 163987861.	NM_006790.3(MYOT):c.816+17A>G GRCh37: Chr5:137217811 GRCh38: Chr5:137882122	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 163667162.	NM_006790.3(MYOT):c.519T>C (p.His173=) GRCh37: Chr5:137211680 GRCh38: Chr5:137875991	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 162091863.	NM_006790.3(MYOT):c.318T>C (p.Asp106=) GRCh37: Chr5:137206658 GRCh38: Chr5:137870969	PKD2L2-DT, MYOT		Myofibrillar myopathy 3	Likely benign (Mar 14, 2021)	criteria provided, single submitter
Select item 161972864.	NM_006790.3(MYOT):c.1025-19T>A GRCh37: Chr5:137221718 GRCh38: Chr5:137886029	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Benign (Oct 18, 2022)	criteria provided, single submitter
Select item 161932465.	NM_006790.3(MYOT):c.1324+12T>A GRCh37: Chr5:137222698 GRCh38: Chr5:137887009	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 161536966.	NM_006790.3(MYOT):c.459A>G (p.Ser153=) GRCh37: Chr5:137211620 GRCh38: Chr5:137875931	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 160878167.	NM_006790.3(MYOT):c.793A>C (p.Arg265=) GRCh37: Chr5:137217771 GRCh38: Chr5:137882082	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Oct 7, 2021)	criteria provided, single submitter
Select item 160745968.	NM_006790.3(MYOT):c.684-16C>T GRCh37: Chr5:137217646 GRCh38: Chr5:137881957	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 160318269.	NM_006790.3(MYOT):c.357-15T>A GRCh37: Chr5:137211503 GRCh38: Chr5:137875814	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jun 17, 2021)	criteria provided, single submitter
Select item 158435870.	NM_006790.3(MYOT):c.249A>G (p.Gln83=) GRCh37: Chr5:137206589 GRCh38: Chr5:137870900	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jun 2, 2021)	criteria provided, single submitter
Select item 158198371.	NM_006790.3(MYOT):c.1324+18C>T GRCh37: Chr5:137222704 GRCh38: Chr5:137887015	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Feb 21, 2021)	criteria provided, single submitter
Select item 158171072.	NM_006790.3(MYOT):c.744C>T (p.Tyr248=) GRCh37: Chr5:137217722 GRCh38: Chr5:137882033	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 158149973.	NM_006790.3(MYOT):c.1089A>C (p.Gly363=) GRCh37: Chr5:137221801 GRCh38: Chr5:137886112	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 157739474.	NM_006790.3(MYOT):c.903T>C (p.Ser301=) GRCh37: Chr5:137219159 GRCh38: Chr5:137883470	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 154905975.	NM_006790.3(MYOT):c.532-12A>T GRCh37: Chr5:137213197 GRCh38: Chr5:137877508	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 154631776.	NM_006790.3(MYOT):c.683+9T>A GRCh37: Chr5:137216563 GRCh38: Chr5:137880874	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 153555477.	NM_006790.3(MYOT):c.1324+11C>G GRCh37: Chr5:137222697 GRCh38: Chr5:137887008	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 153370778.	NM_006790.3(MYOT):c.651T>C (p.His217=) GRCh37: Chr5:137216522 GRCh38: Chr5:137880833	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Likely benign (Nov 25, 2021)	criteria provided, single submitter
Select item 152268379.	NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr) GRCh37: Chr5:137222563 GRCh38: Chr5:137886874	MYOT, PKD2L2-DT	D286Y, D401Y, D217Y	Myofibrillar myopathy 3	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 151830080.	NM_006790.3(MYOT):c.683+1G>C GRCh37: Chr5:137216555 GRCh38: Chr5:137880866	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 149834381.	NM_006790.3(MYOT):c.1191C>T (p.Ser397=) GRCh37: Chr5:137222553 GRCh38: Chr5:137886864	MYOT, PKD2L2-DT		Myofibrillar myopathy 3	Uncertain significance (Aug 18, 2021)	criteria provided, single submitter
Select item 146811682.	NM_006790.3(MYOT):c.1253C>T (p.Ala418Val) GRCh37: Chr5:137222615 GRCh38: Chr5:137886926	MYOT, PKD2L2-DT	A234V, A418V, A303V	Myofibrillar myopathy 3	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 146448083.	NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala) GRCh37: Chr5:137221844 GRCh38: Chr5:137886155	MYOT, PKD2L2-DT	P263A, P378A, P194A	Myofibrillar myopathy 3	Uncertain significance (Nov 18, 2021)	criteria provided, single submitter
Select item 146242984.	NM_006790.3(MYOT):c.762A>C (p.Gln254His) GRCh37: Chr5:137217740 GRCh38: Chr5:137882051	MYOT, PKD2L2-DT	Q139H, Q254H, Q70H	Myofibrillar myopathy 3	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 144662385.	NM_006790.3(MYOT):c.1481A>C (p.Glu494Ala) GRCh37: Chr5:137223058 GRCh38: Chr5:137887369	MYOT, PKD2L2-DT	E379A, E310A, E494A	Myofibrillar myopathy 3	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 143334486.	NC_000005.9:g.(?_137216485)_(137221922_?)del GRCh37: Chr5:137216485-137221922	MYOT		Myofibrillar myopathy 3	Uncertain significance (Sep 22, 2021)	criteria provided, single submitter
Select item 142611187.	NM_006790.3(MYOT):c.1327C>T (p.Arg443Cys) GRCh37: Chr5:137222904 GRCh38: Chr5:137887215	MYOT, PKD2L2-DT	R443C, R259C, R328C	Myofibrillar myopathy 3	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 140515988.	NM_006790.3(MYOT):c.1391T>C (p.Leu464Ser) GRCh37: Chr5:137222968 GRCh38: Chr5:137887279	MYOT, PKD2L2-DT	L349S, L280S, L464S	Myofibrillar myopathy 3	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 140269289.	NM_006790.3(MYOT):c.982A>G (p.Arg328Gly) GRCh37: Chr5:137219238 GRCh38: Chr5:137883549	MYOT, PKD2L2-DT	R213G, R144G, R328G	Myofibrillar myopathy 3	Uncertain significance (Aug 3, 2021)	criteria provided, single submitter
Select item 139793590.	NM_006790.3(MYOT):c.529C>G (p.Gln177Glu) GRCh37: Chr5:137211690 GRCh38: Chr5:137876001	MYOT, PKD2L2-DT	Q177E, Q62E	not provided, Myofibrillar myopathy 3	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139195291.	NM_006790.3(MYOT):c.134G>T (p.Arg45Leu) GRCh37: Chr5:137206474 GRCh38: Chr5:137870785	MYOT, PKD2L2-DT	R45L	Myofibrillar myopathy 3	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 139193992.	NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr) GRCh37: Chr5:137206390 GRCh38: Chr5:137870701	MYOT, PKD2L2-DT	C17Y	Myofibrillar myopathy 3	Uncertain significance (Nov 7, 2021)	criteria provided, single submitter
Select item 138976093.	NM_006790.3(MYOT):c.956G>C (p.Gly319Ala) GRCh37: Chr5:137219212 GRCh38: Chr5:137883523	MYOT, PKD2L2-DT	G204A, G319A, G135A	Myofibrillar myopathy 3	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 138293694.	NM_006790.3(MYOT):c.552G>C (p.Lys184Asn) GRCh37: Chr5:137213229 GRCh38: Chr5:137877540	MYOT, PKD2L2-DT	K69N, K184N	Myofibrillar myopathy 3	Uncertain significance (Aug 3, 2021)	criteria provided, single submitter
Select item 138235395.	NM_006790.3(MYOT):c.1409G>C (p.Gly470Ala) GRCh37: Chr5:137222986 GRCh38: Chr5:137887297	MYOT, PKD2L2-DT	G355A, G470A, G286A	Inborn genetic diseases, Myofibrillar myopathy 3	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137972396.	NM_006790.3(MYOT):c.593T>C (p.Val198Ala) GRCh37: Chr5:137213270 GRCh38: Chr5:137877581	MYOT, PKD2L2-DT	V83A, V14A, V198A	Myofibrillar myopathy 3	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 136737697.	NM_006790.3(MYOT):c.424A>G (p.Ile142Val) GRCh37: Chr5:137211585 GRCh38: Chr5:137875896	MYOT, PKD2L2-DT	I142V, I27V	not provided, Myofibrillar myopathy 3	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135738698.	NM_006790.3(MYOT):c.1478A>G (p.Tyr493Cys) GRCh37: Chr5:137223055 GRCh38: Chr5:137887366	MYOT, PKD2L2-DT	Y309C, Y378C, Y493C	Myofibrillar myopathy 3	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 134614599.	NM_006790.3(MYOT):c.959C>T (p.Ala320Val) GRCh37: Chr5:137219215 GRCh38: Chr5:137883526	MYOT, PKD2L2-DT	A136V, A205V, A320V	Myofibrillar myopathy 3	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 1163258100.	NM_006790.3(MYOT):c.298A>G (p.Ile100Val) GRCh37: Chr5:137206638 GRCh38: Chr5:137870949	MYOT, PKD2L2-DT	I100V	Myofibrillar myopathy 3, not provided	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts

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