ClinVar for MedGen (Select 412965) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24417881.	NM_002471.4(MYH6):c.478A>G (p.Asn160Asp) GRCh37: Chr14:23874456 GRCh38: Chr14:23405247	LOC114827851, MYH6	N160D	Atrial septal defect 3, Dilated cardiomyopathy 1EE, MYH6-related cardiac defects	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 18022182.	NM_002471.4(MYH6):c.5286G>A (p.Thr1762=) GRCh37: Chr14:23854128 GRCh38: Chr14:23384919	MYH6		Dilated cardiomyopathy 1EE	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 17092843.	NM_002471.4(MYH6):c.3463G>A (p.Ala1155Thr) GRCh37: Chr14:23859535 GRCh38: Chr14:23390326	MYH6	A1155T	Dilated cardiomyopathy 1EE	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 16778264.	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 16777995.	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 16777266.	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 16775927.	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 16774858.	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 16742789.	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 155690510.	NM_002471.4(MYH6):c.4651-14C>A GRCh37: Chr14:23855846 GRCh38: Chr14:23386637	LOC126861896, MYH6		Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3	Likely benign (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149642411.	NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp) GRCh37: Chr14:23853824 GRCh38: Chr14:23384615	MYH6	R1798W	Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, not provided	Uncertain significance (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149282512.	NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu) GRCh37: Chr14:23861839 GRCh38: Chr14:23392630	MYH6	Q1092E	Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148475313.	NM_002471.4(MYH6):c.1492G>A (p.Glu498Lys) GRCh37: Chr14:23869554 GRCh38: Chr14:23400345	MYH6	E498K	Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144775414.	NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del) GRCh37: Chr14:23873941-23873943 GRCh38: Chr14:23404732-23404734	LOC114827851, MYH6	K207del	Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143598315.	NM_002471.4(MYH6):c.160C>T (p.Arg54Trp) GRCh37: Chr14:23876273 GRCh38: Chr14:23407064	LOC114827851, MYH6	R54W	Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143225616.	NM_002471.4(MYH6):c.409G>A (p.Glu137Lys) GRCh37: Chr14:23874525 GRCh38: Chr14:23405316	LOC114827851, MYH6	E137K	Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142797017.	NM_002471.4(MYH6):c.2044G>T (p.Ala682Ser) GRCh37: Chr14:23866385 GRCh38: Chr14:23397176	MYH6	A682S	Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Atrial septal defect 3, Hypertrophic cardiomyopathy 14	Uncertain significance (Nov 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 141422618.	NM_002471.4(MYH6):c.5628G>T (p.Lys1876Asn) GRCh37: Chr14:23852467 GRCh38: Chr14:23383258	MYH6	K1876N	Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Atrial septal defect 3, Hypertrophic cardiomyopathy 14	Uncertain significance (Apr 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139868819.	NM_002471.4(MYH6):c.5002G>C (p.Asp1668His) GRCh37: Chr14:23855298 GRCh38: Chr14:23386089	LOC126861896, MYH6	D1668H	Cardiovascular phenotype, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 139579120.	NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile) GRCh37: Chr14:23859301 GRCh38: Chr14:23390092	MYH6	V1233I	Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Atrial septal defect 3	Uncertain significance (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139390621.	NM_002471.4(MYH6):c.4793C>T (p.Ser1598Leu) GRCh37: Chr14:23855690 GRCh38: Chr14:23386481	LOC126861896, MYH6	S1598L	Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138488222.	NM_002471.4(MYH6):c.201G>C (p.Lys67Asn) GRCh37: Chr14:23876232 GRCh38: Chr14:23407023	LOC114827851, MYH6	K67N	Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Hypertrophic cardiomyopathy 14	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137504023.	NM_002471.4(MYH6):c.3562G>A (p.Glu1188Lys) GRCh37: Chr14:23859436 GRCh38: Chr14:23390227	MYH6	E1188K	Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137152224.	NM_002471.4(MYH6):c.244C>T (p.Pro82Ser) GRCh37: Chr14:23874937 GRCh38: Chr14:23405728	LOC114827851, MYH6	P82S	Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134497025.	NM_002471.4(MYH6):c.4151G>A (p.Arg1384Gln) GRCh37: Chr14:23858092 GRCh38: Chr14:23388883	MYH6	R1384Q	not provided, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14	Uncertain significance (Nov 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131535926.	NM_002471.4(MYH6):c.4396C>G (p.Gln1466Glu) GRCh37: Chr14:23857096 GRCh38: Chr14:23387887	MYH6	Q1466E	not provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131476027.	NM_002471.4(MYH6):c.1639A>G (p.Met547Val) GRCh37: Chr14:23868189 GRCh38: Chr14:23398980	MYH6	M547V	not provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14	Uncertain significance (Dec 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131270428.	NM_002471.4(MYH6):c.2051-2A>G GRCh37: Chr14:23866291 GRCh38: Chr14:23397082	MYH6		Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, not provided	Uncertain significance (Aug 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 130855629.	NM_002471.4(MYH6):c.3755G>A (p.Arg1252Gln) GRCh37: Chr14:23858906 GRCh38: Chr14:23389697	MYH6	R1252Q	not provided, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to	Uncertain significance (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128516630.	NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu) GRCh37: Chr14:23871714 GRCh38: Chr14:23402505	MYH6	Q367L	Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to	Uncertain significance (Oct 18, 2021)	criteria provided, single submitter
Select item 128463531.	NM_002471.4(MYH6):c.2717G>A (p.Arg906His) GRCh37: Chr14:23863086 GRCh38: Chr14:23393877	MYH6	R906H	Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Cardiovascular phenotype, not provided	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128428532.	NM_002471.4(MYH6):c.779C>T (p.Ala260Val) GRCh37: Chr14:23872944 GRCh38: Chr14:23403735	MYH6	A260V	Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Cardiovascular phenotype, not provided	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128428133.	NM_002471.4(MYH6):c.2951T>C (p.Met984Thr) GRCh37: Chr14:23862705 GRCh38: Chr14:23393496	MYH6	M984T	Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, not provided	Uncertain significance (Dec 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121864234.	NM_002471.4(MYH6):c.5587C>T (p.Leu1863=) GRCh37: Chr14:23852508 GRCh38: Chr14:23383299	MYH6		Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Cardiovascular phenotype, not provided	Likely benign (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120046235.	NM_002471.4(MYH6):c.2684C>T (p.Ala895Val) GRCh37: Chr14:23863278 GRCh38: Chr14:23394069	MYH6	A895V	Atrial septal defect 3, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, not provided, Cardiovascular phenotype	Uncertain significance (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117510736.	NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp) GRCh37: Chr14:23859571 GRCh38: Chr14:23390362	MYH6	R1143W	Cardiovascular phenotype, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14	Uncertain significance (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117497337.	NM_002471.4(MYH6):c.3871C>T (p.Arg1291Trp) GRCh37: Chr14:23858709 GRCh38: Chr14:23389500	MYH6	R1291W	Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 117484638.	NM_002471.4(MYH6):c.704A>G (p.Lys235Arg) GRCh37: Chr14:23873536 GRCh38: Chr14:23404327	MYH6	K235R	Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 115526139.	NM_002471.4(MYH6):c.3189G>C (p.Leu1063=) GRCh37: Chr14:23862183 GRCh38: Chr14:23392974	MYH6		Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Hypertrophic cardiomyopathy 1	Likely benign (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112162740.	NM_002471.4(MYH6):c.4526-9G>C GRCh37: Chr14:23856871 GRCh38: Chr14:23387662	MYH6		Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to	Likely benign (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106146041.	NM_002471.4(MYH6):c.2533G>A (p.Ala845Thr) GRCh37: Chr14:23863429 GRCh38: Chr14:23394220	MYH6	A845T	Cardiovascular phenotype, Atrial septal defect 3, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105316142.	NM_002471.4(MYH6):c.5481G>C (p.Glu1827Asp) GRCh37: Chr14:23853735 GRCh38: Chr14:23384526	MYH6	E1827D	Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Atrial septal defect 3	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 105238143.	NM_002471.4(MYH6):c.353C>T (p.Ser118Leu) GRCh37: Chr14:23874581 GRCh38: Chr14:23405372	LOC114827851, MYH6	S118L	Hypertrophic cardiomyopathy 14, not provided	Uncertain significance (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104950444.	NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr) GRCh37: Chr14:23871772 GRCh38: Chr14:23402563	MYH6	A348T	Cardiovascular phenotype, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14	Uncertain significance (Feb 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104664145.	NM_002471.4(MYH6):c.5341C>A (p.Leu1781Met) GRCh37: Chr14:23853875 GRCh38: Chr14:23384666	MYH6	L1781M	Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Atrial septal defect 3	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103873146.	NM_002471.4(MYH6):c.4525+3G>A GRCh37: Chr14:23856964 GRCh38: Chr14:23387755	MYH6		Atrial septal defect 3, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14	Uncertain significance (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103807847.	NM_002471.4(MYH6):c.5459G>A (p.Arg1820Gln) GRCh37: Chr14:23853757 GRCh38: Chr14:23384548	MYH6	R1820Q	Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103581848.	NM_002471.4(MYH6):c.2051-1G>A GRCh37: Chr14:23866290 GRCh38: Chr14:23397081	MYH6		Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14	Uncertain significance (Sep 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103206249.	NM_002471.4(MYH6):c.493A>T (p.Met165Leu) GRCh37: Chr14:23874441 GRCh38: Chr14:23405232	LOC114827851, MYH6	M165L	Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, not provided, Dilated cardiomyopathy 1EE	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102600750.	NM_002471.4(MYH6):c.5071C>T (p.Arg1691Cys) GRCh37: Chr14:23855229 GRCh38: Chr14:23386020	LOC126861896, MYH6	R1691C	Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102427951.	NM_002471.4(MYH6):c.1088T>C (p.Met363Thr) GRCh37: Chr14:23871726 GRCh38: Chr14:23402517	MYH6	M363T	Cardiovascular phenotype, MYH6-related cardiac defects, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 102331752.	NM_002471.4(MYH6):c.268A>G (p.Met90Val) GRCh37: Chr14:23874913 GRCh38: Chr14:23405704	LOC114827851, MYH6	M90V	Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102329453.	NM_002471.4(MYH6):c.1523A>T (p.Glu508Val) GRCh37: Chr14:23869523 GRCh38: Chr14:23400314	MYH6	E508V	Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14	Uncertain significance (Sep 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101682254.	NM_002471.4(MYH6):c.5797-2A>G GRCh37: Chr14:23851274 GRCh38: Chr14:23382065	MYH6		Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Hypertrophic cardiomyopathy 14	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101596455.	NM_002471.4(MYH6):c.3287T>C (p.Ile1096Thr) GRCh37: Chr14:23861826 GRCh38: Chr14:23392617	MYH6	I1096T	not provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14	Uncertain significance (Feb 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101234456.	NM_002471.4(MYH6):c.2040del (p.Lys681fs) GRCh37: Chr14:23866389 GRCh38: Chr14:23397180	MYH6	K681fs	Dilated cardiomyopathy 1EE	Likely pathogenic	no assertion criteria provided
Select item 97873157.	NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys) GRCh37: Chr14:23857021 GRCh38: Chr14:23387812	MYH6	E1491K	Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Hypertrophic cardiomyopathy 14, Primary dilated cardiomyopathy	Uncertain significance (Jan 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 97773258.	NM_002471.4(MYH6):c.2169-8C>T GRCh37: Chr14:23866034 GRCh38: Chr14:23396825	MYH6		Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, not specified	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97112659.	NM_002471.4(MYH6):c.2399G>A (p.Arg800His) GRCh37: Chr14:23865523 GRCh38: Chr14:23396314	MYH6	R800H	Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Dilated cardiomyopathy 1EE, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97041360.	NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro) GRCh37: Chr14:23857405 GRCh38: Chr14:23388196	MYH6	A1440P	Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14	Uncertain significance (Sep 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96748661.	NM_002471.4(MYH6):c.2605G>A (p.Glu869Lys) GRCh37: Chr14:23863357 GRCh38: Chr14:23394148	MYH6	E869K	Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14	Uncertain significance (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 95967962.	NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) GRCh37: Chr14:23874507 GRCh38: Chr14:23405298	MYH6, LOC114827851	R143W	Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95848763.	NM_002471.4(MYH6):c.1138G>A (p.Glu380Lys) GRCh37: Chr14:23871676 GRCh38: Chr14:23402467	MYH6	E380K	Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Hypertrophic cardiomyopathy 14	Uncertain significance (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94286264.	NM_002471.4(MYH6):c.569G>A (p.Arg190His) GRCh37: Chr14:23873993 GRCh38: Chr14:23404784	LOC114827851, MYH6	R190H	Cardiovascular phenotype, Atrial septal defect 3, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94102565.	NM_002471.4(MYH6):c.1791A>T (p.Lys597Asn) GRCh37: Chr14:23868037 GRCh38: Chr14:23398828	MYH6	K597N	Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93369566.	NM_002471.4(MYH6):c.190G>A (p.Glu64Lys) GRCh37: Chr14:23876243 GRCh38: Chr14:23407034	MYH6, LOC114827851	E64K	Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, not provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92919167.	NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser) GRCh37: Chr14:23862672 GRCh38: Chr14:23393463	MYH6	T995S	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, not specified, Hypertrophic cardiomyopathy 14	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91755168.	NM_002471.4(MYH6):c.71T>C (p.Leu24Pro) GRCh37: Chr14:23876362 GRCh38: Chr14:23407153	LOC114827851, MYH6	L24P	Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, not specified, Hypertrophic cardiomyopathy 14	Uncertain significance (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87008169.	NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu) GRCh37: Chr14:23855798 GRCh38: Chr14:23386589	LOC126861896, MYH6	R1562L	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy	Uncertain significance (Dec 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86065770.	NM_002471.4(MYH6):c.3447C>T (p.Ser1149=) GRCh37: Chr14:23859551 GRCh38: Chr14:23390342	MYH6		Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 85930571.	NM_002471.4(MYH6):c.203C>T (p.Thr68Met) GRCh37: Chr14:23874978 GRCh38: Chr14:23405769	LOC114827851, MYH6	T68M	Hypertrophic cardiomyopathy 14, not provided, Cardiovascular phenotype, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85503372.	NM_002471.4(MYH6):c.730C>T (p.Arg244Cys) GRCh37: Chr14:23873510 GRCh38: Chr14:23404301	MYH6	R244C	Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14	Uncertain significance (Jan 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85387973.	NM_002471.4(MYH6):c.3578C>T (p.Ala1193Val) GRCh37: Chr14:23859420 GRCh38: Chr14:23390211	MYH6	A1193V	Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85090974.	NM_002471.4(MYH6):c.4349A>C (p.Asn1450Thr) GRCh37: Chr14:23857374 GRCh38: Chr14:23388165	MYH6	N1450T	Atrial septal defect 3, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84917175.	NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser) GRCh37: Chr14:23855609 GRCh38: Chr14:23386400	LOC126861896, MYH6	N1625S	Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Atrial septal defect 3, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Dec 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84886676.	NM_002471.4(MYH6):c.5501G>A (p.Arg1834His) GRCh37: Chr14:23853715 GRCh38: Chr14:23384506	MYH6	R1834H	Cardiovascular phenotype, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Hypertrophic cardiomyopathy 14	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84702277.	NM_002471.4(MYH6):c.1325C>T (p.Thr442Met) GRCh37: Chr14:23870003 GRCh38: Chr14:23400794	MYH6	T442M	Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83687478.	NM_002471.4(MYH6):c.1185C>A (p.Asp395Glu) GRCh37: Chr14:23870143 GRCh38: Chr14:23400934	MYH6	D395E	Cardiovascular phenotype, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14, not provided	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83560379.	NM_002471.4(MYH6):c.3316C>A (p.Leu1106Ile) GRCh37: Chr14:23861797 GRCh38: Chr14:23392588	MYH6	L1106I	Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3	Uncertain significance (Jan 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80707780.	NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys) GRCh37: Chr14:23859652 GRCh38: Chr14:23390443	MYH6	R1116C	Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, not provided	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80707581.	NM_002471.4(MYH6):c.3902C>T (p.Ser1301Leu) GRCh37: Chr14:23858678 GRCh38: Chr14:23389469	MYH6	S1301L	Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14	Uncertain significance (Aug 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80707382.	NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr) GRCh37: Chr14:23854136 GRCh38: Chr14:23384927	MYH6	A1760T	Dilated cardiomyopathy 1A, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68481183.	NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp) GRCh37: Chr14:23852502 GRCh38: Chr14:23383293	MYH6	R1865W	not provided, Cardiovascular phenotype, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14	Uncertain significance (Jul 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66604484.	NM_002471.4(MYH6):c.1793dup (p.Asn598fs) GRCh37: Chr14:23868034-23868035 GRCh38: Chr14:23398825-23398826	MYH6	N598fs	Atrial septal defect 3, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66492085.	NM_002471.4(MYH6):c.4084G>A (p.Val1362Ile) GRCh37: Chr14:23858159 GRCh38: Chr14:23388950	MYH6	V1362I	Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66402486.	NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr) GRCh37: Chr14:23865937 GRCh38: Chr14:23396728	MYH6	I753T	Cardiovascular phenotype, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66288087.	NM_002471.4(MYH6):c.642+4C>T GRCh37: Chr14:23873916 GRCh38: Chr14:23404707	LOC114827851, MYH6		Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66274488.	NM_002471.4(MYH6):c.4192C>T (p.Arg1398Trp) GRCh37: Chr14:23857531 GRCh38: Chr14:23388322	MYH6	R1398W	Cardiovascular phenotype, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65698089.	NM_002471.4(MYH6):c.2189T>C (p.Val730Ala) GRCh37: Chr14:23866006 GRCh38: Chr14:23396797	MYH6	V730A	Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 65619690.	NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter) GRCh37: Chr14:23872591 GRCh38: Chr14:23403382	MYH6	Y288*	not provided, Dilated cardiomyopathy 1EE, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Atrial septal defect 3, Atrial septal defect 3, Hypertrophic cardiomyopathy 14	Uncertain significance (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64739091.	NM_002471.4(MYH6):c.5695C>T (p.Arg1899Cys) GRCh37: Chr14:23851738 GRCh38: Chr14:23382529	MYH6	R1899C	Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64288292.	NM_002471.4(MYH6):c.1868C>T (p.Ser623Phe) GRCh37: Chr14:23867960 GRCh38: Chr14:23398751	MYH6	S623F	Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1	Uncertain significance (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64256793.	NM_002471.4(MYH6):c.1726G>A (p.Ala576Thr) GRCh37: Chr14:23868102 GRCh38: Chr14:23398893	MYH6	A576T	Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, not provided, Hypertrophic cardiomyopathy 14	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64246694.	NM_002471.4(MYH6):c.2716C>T (p.Arg906Cys) GRCh37: Chr14:23863087 GRCh38: Chr14:23393878	MYH6	R906C	Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63332895.	NM_002471.4(MYH6):c.3124C>A (p.Gln1042Lys) GRCh37: Chr14:23862248 GRCh38: Chr14:23393039	MYH6	Q1042K	Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, not specified, Hypertrophic cardiomyopathy 14	Uncertain significance (Dec 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63291596.	NM_002471.4(MYH6):c.2292+1G>A GRCh37: Chr14:23865902 GRCh38: Chr14:23396693	MYH6		Cardiovascular phenotype, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, not specified, Hypertrophic cardiomyopathy 14, not provided	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58210397.	NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg) GRCh37: Chr14:23852468 GRCh38: Chr14:23383259	MYH6	K1876R	Cardiovascular phenotype, not provided, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14	Uncertain significance (Jan 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 57757498.	NM_002471.4(MYH6):c.3541G>C (p.Glu1181Gln) GRCh37: Chr14:23859457 GRCh38: Chr14:23390248	MYH6	E1181Q	Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 57711099.	NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met) GRCh37: Chr14:23856764 GRCh38: Chr14:23387555	MYH6	L1542M	Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Cardiovascular phenotype	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 574886100.	NM_002471.4(MYH6):c.2615G>A (p.Arg872His) GRCh37: Chr14:23863347 GRCh38: Chr14:23394138	MYH6	R872H	Cardiovascular phenotype, not provided, MYH6-related cardiac defects, Hypertrophic cardiomyopathy 14, Atrial septal defect 3, Dilated cardiomyopathy 1EE	Uncertain significance (Nov 27, 2022)	criteria provided, multiple submitters, no conflicts

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