ClinVar for MedGen (Select 501195) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24440951.	NM_000257.4(MYH7):c.2491A>G (p.Lys831Glu) GRCh37: Chr14:23894166 GRCh38: Chr14:23424957	LOC126861898, MYH7	K831E	Hypertrophic cardiomyopathy 1	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24286742.	NM_033118.4(MYLK2):c.1066G>A (p.Val356Ile) GRCh37: Chr20:30414501 GRCh38: Chr20:31826698	MYLK2	V356I	Hypertrophic cardiomyopathy 1	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 24238693.	NM_033118.4(MYLK2):c.1710+18G>A GRCh37: Chr20:30419957 GRCh38: Chr20:31832154	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 24154984.	NM_033118.4(MYLK2):c.1628_1641del (p.Leu543fs) GRCh37: Chr20:30419855-30419868 GRCh38: Chr20:31832052-31832065	MYLK2	L543fs	Hypertrophic cardiomyopathy 1	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 22007565.	NM_033118.4(MYLK2):c.674C>T (p.Ser225Leu) GRCh37: Chr20:30409442 GRCh38: Chr20:31821639	MYLK2	S225L	Hypertrophic cardiomyopathy 1	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 22001846.	NM_033118.4(MYLK2):c.52+13G>C GRCh37: Chr20:30407448 GRCh38: Chr20:31819645	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 21992737.	NM_033118.4(MYLK2):c.243C>G (p.Asp81Glu) GRCh37: Chr20:30408119 GRCh38: Chr20:31820316	MYLK2	D81E	Hypertrophic cardiomyopathy 1	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 21984598.	NM_033118.4(MYLK2):c.75A>G (p.Thr25=) GRCh37: Chr20:30407951 GRCh38: Chr20:31820148	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 21983359.	NM_033118.4(MYLK2):c.85C>A (p.Pro29Thr) GRCh37: Chr20:30407961 GRCh38: Chr20:31820158	MYLK2	P29T	Hypertrophic cardiomyopathy 1	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 219560210.	NM_033118.4(MYLK2):c.1591G>A (p.Ala531Thr) GRCh37: Chr20:30419820 GRCh38: Chr20:31832017	MYLK2	A531T	Hypertrophic cardiomyopathy 1	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 218998011.	NM_033118.4(MYLK2):c.1018C>A (p.Arg340Ser) GRCh37: Chr20:30414453 GRCh38: Chr20:31826650	MYLK2	R340S	Hypertrophic cardiomyopathy 1	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 218595912.	NM_033118.4(MYLK2):c.487C>T (p.Leu163=) GRCh37: Chr20:30409255 GRCh38: Chr20:31821452	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 218165813.	NM_033118.4(MYLK2):c.1161C>G (p.Val387=) GRCh37: Chr20:30414678 GRCh38: Chr20:31826875	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 217899614.	NM_033118.4(MYLK2):c.52+14G>T GRCh37: Chr20:30407449 GRCh38: Chr20:31819646	MYLK2		Hypertrophic cardiomyopathy 1	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 217182415.	NM_033118.4(MYLK2):c.1080G>A (p.Glu360=) GRCh37: Chr20:30414515 GRCh38: Chr20:31826712	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 217055316.	NM_033118.4(MYLK2):c.403G>C (p.Gly135Arg) GRCh37: Chr20:30408279 GRCh38: Chr20:31820476	MYLK2	G135R	Hypertrophic cardiomyopathy 1	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 216323317.	NM_033118.4(MYLK2):c.1651A>G (p.Asn551Asp) GRCh37: Chr20:30419880 GRCh38: Chr20:31832077	MYLK2	N551D	Hypertrophic cardiomyopathy 1	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 216224318.	NM_033118.4(MYLK2):c.711A>G (p.Lys237=) GRCh37: Chr20:30409479 GRCh38: Chr20:31821676	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 216119619.	NM_033118.4(MYLK2):c.306G>A (p.Ala102=) GRCh37: Chr20:30408182 GRCh38: Chr20:31820379	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 215785720.	NM_033118.4(MYLK2):c.473+11_473+12delinsAG GRCh37: Chr20:30408360-30408361 GRCh38: Chr20:31820557-31820558	MYLK2		Hypertrophic cardiomyopathy 1	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 215778221.	NM_033118.4(MYLK2):c.1425-10C>T GRCh37: Chr20:30419496 GRCh38: Chr20:31831693	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 215593322.	NM_033118.4(MYLK2):c.99G>T (p.Gly33=) GRCh37: Chr20:30407975 GRCh38: Chr20:31820172	MYLK2		Hypertrophic cardiomyopathy 1	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 215508023.	NM_033118.4(MYLK2):c.632C>A (p.Thr211Asn) GRCh37: Chr20:30409400 GRCh38: Chr20:31821597	MYLK2	T211N	Hypertrophic cardiomyopathy 1	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 215432824.	NM_033118.4(MYLK2):c.1395G>A (p.Met465Ile) GRCh37: Chr20:30418915 GRCh38: Chr20:31831112	MYLK2	M465I	Hypertrophic cardiomyopathy 1	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 215295025.	NM_033118.4(MYLK2):c.658A>G (p.Met220Val) GRCh37: Chr20:30409426 GRCh38: Chr20:31821623	MYLK2	M220V	Hypertrophic cardiomyopathy 1	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 212829026.	NM_033118.4(MYLK2):c.573C>T (p.Ala191=) GRCh37: Chr20:30409341 GRCh38: Chr20:31821538	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 211783327.	NM_033118.4(MYLK2):c.1538C>A (p.Ala513Asp) GRCh37: Chr20:30419619 GRCh38: Chr20:31831816	MYLK2	A513D	Hypertrophic cardiomyopathy 1	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211461328.	NM_033118.4(MYLK2):c.208T>A (p.Ser70Thr) GRCh37: Chr20:30408084 GRCh38: Chr20:31820281	MYLK2	S70T	Hypertrophic cardiomyopathy 1	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 211404729.	NM_033118.4(MYLK2):c.1035G>C (p.Leu345=) GRCh37: Chr20:30414470 GRCh38: Chr20:31826667	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 210979030.	NM_033118.4(MYLK2):c.1424+6C>G GRCh37: Chr20:30418950 GRCh38: Chr20:31831147	MYLK2		Hypertrophic cardiomyopathy 1	Uncertain significance (Sep 8, 2022)	criteria provided, single submitter
Select item 208826431.	NM_033118.4(MYLK2):c.666G>A (p.Gly222=) GRCh37: Chr20:30409434 GRCh38: Chr20:31821631	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 208684932.	NM_033118.4(MYLK2):c.1334C>T (p.Thr445Ile) GRCh37: Chr20:30418854 GRCh38: Chr20:31831051	MYLK2	T445I	Hypertrophic cardiomyopathy 1	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 207144933.	NM_033118.4(MYLK2):c.1425-11C>A GRCh37: Chr20:30419495 GRCh38: Chr20:31831692	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 205265634.	NM_033118.4(MYLK2):c.53-20G>A GRCh37: Chr20:30407909 GRCh38: Chr20:31820106	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 205232435.	NM_033118.4(MYLK2):c.135G>A (p.Pro45=) GRCh37: Chr20:30408011 GRCh38: Chr20:31820208	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 204938236.	NM_033118.4(MYLK2):c.773-7C>T GRCh37: Chr20:30411273 GRCh38: Chr20:31823470	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 203954837.	NM_033118.4(MYLK2):c.1710+14C>T GRCh37: Chr20:30419953 GRCh38: Chr20:31832150	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 203919138.	NM_033118.4(MYLK2):c.1774A>G (p.Met592Val) GRCh37: Chr20:30421583 GRCh38: Chr20:31833780	MYLK2	M592V	Hypertrophic cardiomyopathy 1	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 203859039.	NM_033118.4(MYLK2):c.1055C>T (p.Pro352Leu) GRCh37: Chr20:30414490 GRCh38: Chr20:31826687	MYLK2	P352L	Hypertrophic cardiomyopathy 1	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 203000540.	NM_033118.4(MYLK2):c.1790G>A (p.Ter597=) GRCh37: Chr20:30421599 GRCh38: Chr20:31833796	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 202679541.	NM_033118.4(MYLK2):c.1654C>T (p.Arg552Ter) GRCh37: Chr20:30419883 GRCh38: Chr20:31832080	MYLK2	R552*	Hypertrophic cardiomyopathy 1	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 201868542.	NM_033118.4(MYLK2):c.831G>A (p.Gly277=) GRCh37: Chr20:30411338 GRCh38: Chr20:31823535	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 201454443.	NM_033118.4(MYLK2):c.722G>C (p.Gly241Ala) GRCh37: Chr20:30409490 GRCh38: Chr20:31821687	MYLK2	G241A	Hypertrophic cardiomyopathy 1	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 200471944.	NM_033118.4(MYLK2):c.224G>A (p.Gly75Asp) GRCh37: Chr20:30408100 GRCh38: Chr20:31820297	MYLK2	G75D	Hypertrophic cardiomyopathy 1	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 200263645.	NM_033118.4(MYLK2):c.255G>A (p.Gly85=) GRCh37: Chr20:30408131 GRCh38: Chr20:31820328	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 200155346.	NM_033118.4(MYLK2):c.706G>C (p.Glu236Gln) GRCh37: Chr20:30409474 GRCh38: Chr20:31821671	MYLK2	E236Q	Hypertrophic cardiomyopathy 1	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 199425647.	NM_033118.4(MYLK2):c.474-19_474-18del GRCh37: Chr20:30409221-30409222 GRCh38: Chr20:31821418-31821419	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 198512948.	NM_033118.4(MYLK2):c.53-20G>T GRCh37: Chr20:30407909 GRCh38: Chr20:31820106	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 198038349.	NM_033118.4(MYLK2):c.1407G>A (p.Gly469=) GRCh37: Chr20:30418927 GRCh38: Chr20:31831124	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 197168350.	NM_033118.4(MYLK2):c.433G>C (p.Ala145Pro) GRCh37: Chr20:30408309 GRCh38: Chr20:31820506	MYLK2	A145P	Hypertrophic cardiomyopathy 1	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 196403751.	NM_033118.4(MYLK2):c.620T>G (p.Val207Gly) GRCh37: Chr20:30409388 GRCh38: Chr20:31821585	MYLK2	V207G	Hypertrophic cardiomyopathy 1	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 196367052.	NM_033118.4(MYLK2):c.426C>G (p.Gly142=) GRCh37: Chr20:30408302 GRCh38: Chr20:31820499	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 195889653.	NM_033118.4(MYLK2):c.1577+20C>G GRCh37: Chr20:30419678 GRCh38: Chr20:31831875	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 195316554.	NM_033118.4(MYLK2):c.716A>C (p.Glu239Ala) GRCh37: Chr20:30409484 GRCh38: Chr20:31821681	MYLK2	E239A	Hypertrophic cardiomyopathy 1	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 194351755.	NM_033118.4(MYLK2):c.474-12C>T GRCh37: Chr20:30409230 GRCh38: Chr20:31821427	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 191899256.	NM_033118.4(MYLK2):c.430C>T (p.Pro144Ser) GRCh37: Chr20:30408306 GRCh38: Chr20:31820503	MYLK2	P144S	Hypertrophic cardiomyopathy 1	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 191780357.	NM_033118.4(MYLK2):c.97G>T (p.Gly33Trp) GRCh37: Chr20:30407973 GRCh38: Chr20:31820170	MYLK2	G33W	Hypertrophic cardiomyopathy 1	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 191073858.	NM_033118.4(MYLK2):c.249C>A (p.Gly83=) GRCh37: Chr20:30408125 GRCh38: Chr20:31820322	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 191001259.	NM_033118.4(MYLK2):c.615G>A (p.Lys205=) GRCh37: Chr20:30409383 GRCh38: Chr20:31821580	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 180633660.	NM_000257.4(MYH7):c.595G>A (p.Ala199Thr) GRCh37: Chr14:23901014 GRCh38: Chr14:23431805	MYH7	A199T	Hypertrophic cardiomyopathy 1	Likely pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 180633361.	NM_033118.4(MYLK2):c.1424+6C>T GRCh37: Chr20:30418950 GRCh38: Chr20:31831147	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Oct 19, 2020)	criteria provided, single submitter
Select item 180314262.	NM_000257.4(MYH7):c.983A>G (p.Glu328Gly) GRCh37: Chr14:23899785 GRCh38: Chr14:23430576	MYH7	E328G	Hypertrophic cardiomyopathy 1	Likely pathogenic (May 12, 2021)	criteria provided, single submitter
Select item 180183063.	NM_000256.3(MYBPC3):c.1877C>G (p.Ser626Ter) GRCh37: Chr11:47362709 GRCh38: Chr11:47341158	MYBPC3	S626*	Hypertrophic cardiomyopathy 1	Likely pathogenic (Dec 1, 2022)	criteria provided, single submitter
Select item 180182964.	NM_006767.4(LZTR1):c.736C>T (p.Gln246Ter) GRCh37: Chr22:21344759 GRCh38: Chr22:20990470	LZTR1	Q246*	Hypertrophic cardiomyopathy 1	Likely pathogenic (Dec 1, 2022)	criteria provided, single submitter
Select item 177603665.	NM_033118.4(MYLK2):c.1598A>G (p.Gln533Arg) GRCh37: Chr20:30419827 GRCh38: Chr20:31832024	MYLK2	Q533R	Inborn genetic diseases, Hypertrophic cardiomyopathy 1	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176851266.	NM_033118.4(MYLK2):c.989A>G (p.Glu330Gly) GRCh37: Chr20:30414424 GRCh38: Chr20:31826621	MYLK2	E330G	Inborn genetic diseases, Hypertrophic cardiomyopathy 1	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174577067.	NM_033118.4(MYLK2):c.516A>C (p.Ser172=) GRCh37: Chr20:30409284 GRCh38: Chr20:31821481	MYLK2		Inborn genetic diseases, Hypertrophic cardiomyopathy 1	Likely benign (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173281768.	NM_033118.4(MYLK2):c.1147A>G (p.Thr383Ala) GRCh37: Chr20:30414664 GRCh38: Chr20:31826861	MYLK2	T383A	Inborn genetic diseases, Hypertrophic cardiomyopathy 1	Uncertain significance (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172019969.	NM_033118.4(MYLK2):c.1000A>G (p.Met334Val) GRCh37: Chr20:30414435 GRCh38: Chr20:31826632	MYLK2	M334V	Hypertrophic cardiomyopathy 1	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 171785670.	NM_033118.4(MYLK2):c.161C>T (p.Ala54Val) GRCh37: Chr20:30408037 GRCh38: Chr20:31820234	MYLK2	A54V	Hypertrophic cardiomyopathy 1	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 169684171.	NM_000257.4(MYH7):c.1783_1784delinsAG (p.Gln595Arg) GRCh37: Chr14:23896898-23896899 GRCh38: Chr14:23427689-23427690	MYH7	Q595R	Hypertrophic cardiomyopathy 1	Uncertain significance (Jul 13, 2022)	no assertion criteria provided
Select item 169128672.	NM_000257.4(MYH7):c.1021T>A (p.Phe341Ile) GRCh37: Chr14:23899101 GRCh38: Chr14:23429892	MYH7	F341I	Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Mar 17, 2022)	criteria provided, conflicting interpretations
Select item 168731673.	NM_000257.4(MYH7):c.1350G>T (p.Lys450Asn) GRCh37: Chr14:23898221 GRCh38: Chr14:23429012	MYH7	K450N	Hypertrophic cardiomyopathy 1	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 167782674.	NM_002471.4(MYH6):c.2293-2A>C GRCh37: Chr14:23865631 GRCh38: Chr14:23396422	MYH6		not provided, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167779975.	NM_002471.4(MYH6):c.5662-2A>G GRCh37: Chr14:23851773 GRCh38: Chr14:23382564	MYH6		Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Cardiovascular phenotype, not provided	Uncertain significance (Jan 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167772676.	NM_002471.4(MYH6):c.1002+1G>T GRCh37: Chr14:23871905 GRCh38: Chr14:23402696	MYH6		not provided, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 167759277.	NM_002471.4(MYH6):c.1961G>A (p.Arg654Gln) GRCh37: Chr14:23866753 GRCh38: Chr14:23397544	MYH6	R654Q	not provided, Inborn genetic diseases, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1	Uncertain significance (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 167748578.	NM_002471.4(MYH6):c.325T>C (p.Tyr109His) GRCh37: Chr14:23874856 GRCh38: Chr14:23405647	LOC114827851, MYH6	Y109H	Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 1, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167427879.	NM_002471.4(MYH6):c.2664C>T (p.Asp888=) GRCh37: Chr14:23863298 GRCh38: Chr14:23394089	MYH6		Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14	Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167386680.	NM_033118.4(MYLK2):c.879-19C>A GRCh37: Chr20:30412043 GRCh38: Chr20:31824240	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Nov 14, 2021)	criteria provided, single submitter
Select item 167304581.	NM_033118.4(MYLK2):c.1515C>T (p.Thr505=) GRCh37: Chr20:30419596 GRCh38: Chr20:31831793	MYLK2		Hypertrophic cardiomyopathy 1, Inborn genetic diseases	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166784682.	NM_033118.4(MYLK2):c.1410G>A (p.Val470=) GRCh37: Chr20:30418930 GRCh38: Chr20:31831127	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 166721883.	NM_033118.4(MYLK2):c.1710+15A>T GRCh37: Chr20:30419954 GRCh38: Chr20:31832151	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Apr 13, 2021)	criteria provided, single submitter
Select item 166584284.	NM_033118.4(MYLK2):c.1440C>T (p.Ser480=) GRCh37: Chr20:30419521 GRCh38: Chr20:31831718	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Dec 25, 2020)	criteria provided, single submitter
Select item 166514585.	NM_033118.4(MYLK2):c.1578-17T>C GRCh37: Chr20:30419790 GRCh38: Chr20:31831987	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Mar 28, 2021)	criteria provided, single submitter
Select item 165746386.	NM_033118.4(MYLK2):c.1659C>A (p.Arg553=) GRCh37: Chr20:30419888 GRCh38: Chr20:31832085	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Dec 3, 2020)	criteria provided, single submitter
Select item 165296187.	NM_033118.4(MYLK2):c.963C>T (p.Pro321=) GRCh37: Chr20:30412146 GRCh38: Chr20:31824343	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Apr 5, 2021)	criteria provided, single submitter
Select item 164866988.	NM_033118.4(MYLK2):c.972+18del GRCh37: Chr20:30412169 GRCh38: Chr20:31824366	MYLK2		Hypertrophic cardiomyopathy 1	Benign (Jun 9, 2022)	criteria provided, single submitter
Select item 163798989.	NM_033118.4(MYLK2):c.828C>G (p.Thr276=) GRCh37: Chr20:30411335 GRCh38: Chr20:31823532	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Apr 8, 2021)	criteria provided, single submitter
Select item 163751890.	NM_033118.4(MYLK2):c.648C>A (p.Gly216=) GRCh37: Chr20:30409416 GRCh38: Chr20:31821613	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Jul 2, 2021)	criteria provided, single submitter
Select item 163664991.	NM_033118.4(MYLK2):c.1710+14_1710+15delinsGG GRCh37: Chr20:30419953-30419954 GRCh38: Chr20:31832150-31832151	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Jul 19, 2021)	criteria provided, single submitter
Select item 163529092.	NM_033118.4(MYLK2):c.52+11G>A GRCh37: Chr20:30407446 GRCh38: Chr20:31819643	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 163236793.	NM_000257.4(MYH7):c.4953+14G>A GRCh37: Chr14:23885199 GRCh38: Chr14:23415990	LOC126861897, MHRT, MYH7		Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Myosin storage myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion	Likely benign (Sep 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 163142294.	NM_033118.4(MYLK2):c.519G>A (p.Glu173=) GRCh37: Chr20:30409287 GRCh38: Chr20:31821484	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Jul 24, 2021)	criteria provided, single submitter
Select item 163139295.	NM_033118.4(MYLK2):c.1773G>T (p.Leu591=) GRCh37: Chr20:30421582 GRCh38: Chr20:31833779	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 162818096.	NM_033118.4(MYLK2):c.1295+9TGGG[2] GRCh37: Chr20:30418701-30418704 GRCh38: Chr20:31830898-31830901	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Dec 11, 2021)	criteria provided, single submitter
Select item 162390997.	NM_033118.4(MYLK2):c.348A>G (p.Gly116=) GRCh37: Chr20:30408224 GRCh38: Chr20:31820421	MYLK2		Inborn genetic diseases, Hypertrophic cardiomyopathy 1	Likely benign (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161968998.	NM_033118.4(MYLK2):c.1659C>T (p.Arg553=) GRCh37: Chr20:30419888 GRCh38: Chr20:31832085	MYLK2		Inborn genetic diseases, Hypertrophic cardiomyopathy 1	Likely benign (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161046699.	NM_033118.4(MYLK2):c.675G>A (p.Ser225=) GRCh37: Chr20:30409443 GRCh38: Chr20:31821640	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Nov 4, 2020)	criteria provided, single submitter
Select item 1606823100.	NM_033118.4(MYLK2):c.1425-10C>G GRCh37: Chr20:30419496 GRCh38: Chr20:31831693	MYLK2		Hypertrophic cardiomyopathy 1	Likely benign (Oct 4, 2021)	criteria provided, single submitter

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