MYH7[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11748841.	NM_000257.4(MYH7):c.5773C>G (p.Arg1925Gly) GRCh37: Chr14:23882985 GRCh38: Chr14:23413776	MYH7	R1925G	not provided	Pathogenic/Likely pathogenic	no assertion criteria provided
Select item 11750392.	NM_000257.4(MYH7):c.5754C>G (p.Asn1918Lys) GRCh37: Chr14:23883004 GRCh38: Chr14:23413795	MYH7	N1918K	not provided	Pathogenic	no assertion criteria provided
Select item 660823.	NM_000257.4(MYH7):c.5754C>R (p.Asn1918Lys) GRCh37: Chr14:23883004 GRCh38: Chr14:23413795	MYH7	N1918K	Left ventricular noncompaction 5	Pathogenic (Feb 1, 2011)	no assertion criteria provided
Select item 2227344.	NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal) GRCh37: Chr14:23883014-23883017 GRCh38: Chr14:23413805-23413808	MYH7		Primary dilated cardiomyopathy	Likely pathogenic (Mar 31, 2015)	criteria provided, single submitter
Select item 430885.	NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) GRCh37: Chr14:23883018 GRCh38: Chr14:23413809	MYH7	E1914K	Primary dilated cardiomyopathy	Likely pathogenic (Mar 22, 2021)	reviewed by expert panel FDA Recognized Database
Select item 430836.	NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly) GRCh37: Chr14:23883041 GRCh38: Chr14:23413832	MYH7	A1906G	Primary dilated cardiomyopathy	Likely pathogenic (Jan 6, 2014)	criteria provided, single submitter
Select item 141177.	NM_000257.4(MYH7):c.5702A>T (p.His1901Leu) GRCh37: Chr14:23883056 GRCh38: Chr14:23413847	MYH7	H1901L	Myosin storage myopathy	Pathogenic (Apr 14, 2009)	no assertion criteria provided
Select item 1813668.	NM_000257.4(MYH7):c.5659del (p.Glu1887fs) GRCh37: Chr14:23883099 GRCh38: Chr14:23413890	MYH7	E1887fs	not provided	Likely pathogenic (Aug 18, 2017)	criteria provided, single submitter
Select item 6943119.	NM_000257.4(MYH7):c.5655+5G>C GRCh37: Chr14:23883211 GRCh38: Chr14:23414002	MYH7		Primary dilated cardiomyopathy, Congenital myopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Jan 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151535610.	NM_000257.4(MYH7):c.5655+1G>T GRCh37: Chr14:23883215 GRCh38: Chr14:23414006	MYH7		Hypertrophic cardiomyopathy	Likely pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 98637811.	NM_000257.4(MYH7):c.5655+1G>C GRCh37: Chr14:23883215 GRCh38: Chr14:23414006	MYH7		Myosin storage myopathy	Likely pathogenic (Nov 16, 2020)	criteria provided, single submitter
Select item 197858812.	NM_000257.4(MYH7):c.5636A>G (p.Lys1879Arg) GRCh37: Chr14:23883235 GRCh38: Chr14:23414026	MYH7	K1879R	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 65688713.	NM_000257.4(MYH7):c.5594A>C (p.Gln1865Pro) GRCh37: Chr14:23883277 GRCh38: Chr14:23414068	MYH7	Q1865P	Hypertrophic cardiomyopathy	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 56217914.	NM_000257.4(MYH7):c.5560-2A>C GRCh37: Chr14:23883313 GRCh38: Chr14:23414104	MYH7		MYH7-related skeletal myopathy, Congenital myopathy with fiber type disproportion	Likely pathogenic (Sep 13, 2018)	criteria provided, single submitter
Select item 148897515.	NM_000257.4(MYH7):c.5414T>C (p.Leu1805Pro) GRCh37: Chr14:23884349 GRCh38: Chr14:23415140	MYH7	L1805P	Hypertrophic cardiomyopathy	Likely pathogenic (Nov 30, 2021)	criteria provided, single submitter
Select item 4306916.	NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) GRCh37: Chr14:23884362 GRCh38: Chr14:23415153	MYH7	E1801K	Primary dilated cardiomyopathy	Likely pathogenic (Dec 15, 2016)	reviewed by expert panel FDA Recognized Database
Select item 18139617.	NM_000257.4(MYH7):c.5398G>C (p.Ala1800Pro) GRCh37: Chr14:23884365 GRCh38: Chr14:23415156	MYH7	A1800P	not provided	Likely pathogenic (Nov 3, 2011)	criteria provided, single submitter
Select item 14321818.	NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) GRCh37: Chr14:23884383-23884385 GRCh38: Chr14:23415174-23415176	MYH7	L1793del	Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy	Pathogenic (Jan 1, 2013)	no assertion criteria provided
Select item 4306619.	NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys) GRCh37: Chr14:23884383 GRCh38: Chr14:23415174	MYH7	Q1794K	not provided, Hypertrophic cardiomyopathy	Likely pathogenic (Nov 23, 2018)	criteria provided, multiple submitters, no conflicts
Select item 1412320.	NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) GRCh37: Chr14:23884385 GRCh38: Chr14:23415176	MYH7	L1793P	not provided, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 23471321.	NM_000257.4(MYH7):c.5364_5366del (p.Gln1788_Thr1789delinsHis) GRCh37: Chr14:23884397-23884399 GRCh38: Chr14:23415188-23415190	MYH7		not provided	Likely pathogenic (Jan 13, 2016)	criteria provided, single submitter
Select item 42720722.	NM_000257.4(MYH7):c.5359G>C (p.Glu1787Gln) GRCh37: Chr14:23884404 GRCh38: Chr14:23415195	MYH7	E1787Q	not provided	Likely pathogenic (Apr 1, 2015)	criteria provided, single submitter
Select item 106099423.	NM_000257.4(MYH7):c.5342G>T (p.Arg1781Leu) GRCh37: Chr14:23884421 GRCh38: Chr14:23415212	MYH7	R1781L	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 4300324.	NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) GRCh37: Chr14:23886807 GRCh38: Chr14:23417598	MYH7	R1420W	Hypertrophic cardiomyopathy	Likely pathogenic (Dec 9, 2021)	reviewed by expert panel FDA Recognized Database
Select item 45437425.	NM_000257.4(MYH7):c.4135G>T (p.Ala1379Ser) GRCh37: Chr14:23887453 GRCh38: Chr14:23418244	MYH7	A1379S	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 4299326.	NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) GRCh37: Chr14:23887453 GRCh38: Chr14:23418244	MYH7	A1379T	Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4299227.	NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) GRCh37: Chr14:23887458 GRCh38: Chr14:23418249	MYH7	T1377M	Hypertrophic cardiomyopathy	Pathogenic (Nov 23, 2021)	reviewed by expert panel FDA Recognized Database
Select item 18138628.	NM_000257.4(MYH7):c.4093A>G (p.Asn1365Asp) GRCh37: Chr14:23887495 GRCh38: Chr14:23418286	MYH7	N1365D	not provided	Likely pathogenic (Oct 6, 2014)	criteria provided, single submitter
Select item 16429429.	NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) GRCh37: Chr14:23887522 GRCh38: Chr14:23418313	MYH7	E1356K	Hypertrophic cardiomyopathy	Pathogenic (Nov 30, 2021)	reviewed by expert panel FDA Recognized Database
Select item 140773030.	NM_000257.4(MYH7):c.4048G>A (p.Glu1350Lys) GRCh37: Chr14:23887540 GRCh38: Chr14:23418331	MYH7	E1350K	Hypertrophic cardiomyopathy	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 37260431.	NM_000257.4(MYH7):c.3991C>G (p.His1331Asp) GRCh37: Chr14:23887597 GRCh38: Chr14:23418388	MYH7	H1331D	not provided	Likely pathogenic (Mar 30, 2015)	criteria provided, single submitter
Select item 63454432.	NM_000257.4(MYH7):c.3985dup (p.Leu1329fs) GRCh37: Chr14:23887602-23887603 GRCh38: Chr14:23418393-23418394	MYH7	L1329fs	MYH7-Related Disorders	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 18141333.	NM_000257.4(MYH7):c.3901_3903del (p.Leu1301del) GRCh37: Chr14:23888455-23888457 GRCh38: Chr14:23419246-23419248	MYH7	L1301del	not provided	Likely pathogenic (Oct 17, 2014)	criteria provided, single submitter
Select item 50374134.	NM_000257.4(MYH7):c.3812_3823del (p.Asn1271_Thr1274del) GRCh37: Chr14:23888722-23888733 GRCh38: Chr14:23419513-23419524	MYH7		not provided	Likely pathogenic (Dec 8, 2017)	criteria provided, single submitter
Select item 18122835.	NM_000257.4(MYH7):c.3597C>G (p.Ser1199Arg) GRCh37: Chr14:23889183 GRCh38: Chr14:23419974	MYH7	S1199R	not provided	Likely pathogenic (Apr 2, 2012)	criteria provided, single submitter
Select item 4296536.	NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) GRCh37: Chr14:23889202 GRCh38: Chr14:23419993	MYH7	R1193H	Hypertrophic cardiomyopathy	Likely pathogenic (Dec 22, 2021)	reviewed by expert panel FDA Recognized Database
Select item 40719537.	NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3]) GRCh37: Chr14:23889409-23889410 GRCh38: Chr14:23420200-23420201	MYH7		Inborn genetic diseases, Hypertrophic cardiomyopathy	Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21746538.	NM_000257.4(MYH7):c.3358G>A (p.Glu1120Lys) GRCh37: Chr14:23889422 GRCh38: Chr14:23420213	MYH7	E1120K	Hypertrophic cardiomyopathy 1	Likely pathogenic	criteria provided, single submitter
Select item 16250739.	NM_000257.4(MYH7):c.3349G>T (p.Glu1117Ter) GRCh37: Chr14:23889431 GRCh38: Chr14:23420222	MYH7	E1117*	Cardiomyopathy	Likely pathogenic (Jun 1, 2014)	criteria provided, single submitter
Select item 87197140.	NM_000257.4(MYH7):c.3336+1G>C GRCh37: Chr14:23890166 GRCh38: Chr14:23420957	MYH7		not provided	Likely pathogenic (Jan 1, 2020)	criteria provided, single submitter
Select item 4295041.	NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) GRCh37: Chr14:23891465 GRCh38: Chr14:23422256	MYH7	G1057S	Hypertrophic cardiomyopathy	Likely pathogenic (Dec 9, 2021)	reviewed by expert panel FDA Recognized Database
Select item 18121642.	NM_000257.4(MYH7):c.3163C>A (p.Leu1055Met) GRCh37: Chr14:23891471 GRCh38: Chr14:23422262	MYH7	L1055M	not provided	Likely pathogenic (Dec 27, 2012)	criteria provided, single submitter
Select item 15581443.	NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) GRCh37: Chr14:23891476 GRCh38: Chr14:23422267	MYH7	R1053Q	Hypertrophic cardiomyopathy	Pathogenic (Nov 30, 2021)	reviewed by expert panel FDA Recognized Database
Select item 4294844.	NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) GRCh37: Chr14:23891500 GRCh38: Chr14:23422291	MYH7	R1045L	Hypertrophic cardiomyopathy	Likely pathogenic (Aug 25, 2021)	reviewed by expert panel FDA Recognized Database
Select item 171026945.	NM_000257.4(MYH7):c.3119A>G (p.Gln1040Arg) GRCh37: Chr14:23891515 GRCh38: Chr14:23422306	MYH7	Q1040R	MYH7-related skeletal myopathy	Likely pathogenic (Jun 2, 2022)	no assertion criteria provided
Select item 213755946.	NM_000257.4(MYH7):c.3113T>C (p.Leu1038Pro) GRCh37: Chr14:23891521 GRCh38: Chr14:23422312	MYH7	L1038P	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 21746747.	NM_000257.4(MYH7):c.2893G>A (p.Glu965Lys) GRCh37: Chr14:23893145 GRCh38: Chr14:23423936	MYH7	E965K	not provided, Hypertrophic cardiomyopathy 1	Likely pathogenic (Aug 6, 2015)	criteria provided, multiple submitters, no conflicts
Select item 57740648.	NM_000257.4(MYH7):c.2857G>C (p.Asp953His) GRCh37: Chr14:23893181 GRCh38: Chr14:23423972	MYH7	D953H	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 1409349.	NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) GRCh37: Chr14:23893193 GRCh38: Chr14:23423984	MYH7	E949K	Hypertrophic cardiomyopathy	Likely pathogenic (Mar 22, 2021)	reviewed by expert panel FDA Recognized Database
Select item 42711850.	NM_000257.4(MYH7):c.2822G>C (p.Arg941Pro) GRCh37: Chr14:23893216 GRCh38: Chr14:23424007	MYH7	R941P	not provided	Likely pathogenic (Jun 1, 2015)	criteria provided, single submitter
Select item 1410651.	NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys) GRCh37: Chr14:23893235 GRCh38: Chr14:23424026	MYH7	E935K	Hypertrophic cardiomyopathy	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 4293452.	NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del) GRCh37: Chr14:23893245-23893247 GRCh38: Chr14:23424036-23424038	MYH7	E931del	Hypertrophic cardiomyopathy	Likely pathogenic (Nov 23, 2021)	reviewed by expert panel FDA Recognized Database
Select item 42965753.	NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys) GRCh37: Chr14:23893247 GRCh38: Chr14:23424038	MYH7	E931K	not provided, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16431254.	NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) GRCh37: Chr14:23893250 GRCh38: Chr14:23424041	MYH7	E930Q	Hypertrophic cardiomyopathy 1, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myopathy, myosin storage, autosomal recessive, not provided, Myopathy, myosin storage, autosomal recessive, Cardiomyopathy, Hypertrophic cardiomyopathy 1MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, Hypertrophic cardiomyopathy, ...see more	Pathogenic/Likely pathogenic (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4293355.	NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys) GRCh37: Chr14:23893250 GRCh38: Chr14:23424041	MYH7	E930K	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16431356.	NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) GRCh37: Chr14:23893256 GRCh38: Chr14:23424047	MYH7	D928N	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4293257.	NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys) GRCh37: Chr14:23893259 GRCh38: Chr14:23424050	MYH7	E927K	Cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85093258.	NM_000257.4(MYH7):c.2773A>G (p.Arg925Gly) GRCh37: Chr14:23893265 GRCh38: Chr14:23424056	MYH7	R925G	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 56071659.	NM_000257.4(MYH7):c.2771A>G (p.Glu924Gly) GRCh37: Chr14:23893267 GRCh38: Chr14:23424058	MYH7	E924G	Hypertrophic cardiomyopathy 1	Likely pathogenic (Jun 18, 2018)	criteria provided, single submitter
Select item 1409260.	NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) GRCh37: Chr14:23893268 GRCh38: Chr14:23424059	MYH7	E924K	MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Myopathy, myosin storage, autosomal recessive, Cardiovascular phenotype, Cardiomyopathy, Left ventricular noncompaction cardiomyopathy, not providedHypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy, ...see more	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80709461.	NM_000257.4(MYH7):c.2761_2763del (p.Glu921del) GRCh37: Chr14:23893275-23893277 GRCh38: Chr14:23424066-23424068	MYH7	E921del	not provided	Likely pathogenic (Jun 1, 2019)	criteria provided, single submitter
Select item 18120562.	NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) GRCh37: Chr14:23893277 GRCh38: Chr14:23424068	MYH7	E921K	Dilated cardiomyopathy 1S, Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy	Likely pathogenic (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4292763.	NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro) GRCh37: Chr14:23893294 GRCh38: Chr14:23424085	MYH7	L915P	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Likely pathogenic (Apr 11, 2014)	criteria provided, multiple submitters, no conflicts
Select item 18120464.	NM_000257.4(MYH7):c.2734A>C (p.Lys912Gln) GRCh37: Chr14:23893304 GRCh38: Chr14:23424095	MYH7	K912Q	not provided	Likely pathogenic (Mar 4, 2015)	criteria provided, single submitter
Select item 1409765.	NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) GRCh37: Chr14:23893316 GRCh38: Chr14:23424107	MYH7	L908V	Hypertrophic cardiomyopathy	Pathogenic (Dec 15, 2016)	reviewed by expert panel FDA Recognized Database
Select item 1412566.	NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) GRCh37: Chr14:23893321 GRCh38: Chr14:23424112	MYH7	D906G	Hypertrophic cardiomyopathy	Pathogenic (Dec 15, 2016)	reviewed by expert panel FDA Recognized Database
Select item 139736067.	NM_000257.4(MYH7):c.2714G>T (p.Cys905Phe) GRCh37: Chr14:23893324 GRCh38: Chr14:23424115	MYH7	C905F	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 132940668.	NM_000257.4(MYH7):c.2711G>T (p.Arg904Leu) GRCh37: Chr14:23893327 GRCh38: Chr14:23424118	MYH7	R904L	Cardiomyopathy	Likely pathogenic (Apr 2, 2020)	criteria provided, single submitter
Select item 45436169.	NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro) GRCh37: Chr14:23893327 GRCh38: Chr14:23424118	MYH7	R904P	Cardiovascular phenotype, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4292670.	NM_000257.4(MYH7):c.2711G>A (p.Arg904His) GRCh37: Chr14:23893327 GRCh38: Chr14:23424118	MYH7	R904H	Primary dilated cardiomyopathy	Pathogenic (Sep 27, 2021)	reviewed by expert panel FDA Recognized Database
Select item 187927171.	NM_000257.4(MYH7):c.2710C>G (p.Arg904Gly) GRCh37: Chr14:23893328 GRCh38: Chr14:23424119	MYH7	R904G	not provided	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 16431672.	NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) GRCh37: Chr14:23893328 GRCh38: Chr14:23424119	MYH7	R904C	Primary dilated cardiomyopathy	Pathogenic (Sep 27, 2021)	reviewed by expert panel FDA Recognized Database
Select item 93939673.	NM_000257.4(MYH7):c.2707G>C (p.Glu903Gln) GRCh37: Chr14:23893331 GRCh38: Chr14:23424122	MYH7	E903Q	Hypertrophic cardiomyopathy	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 18120074.	NM_000257.4(MYH7):c.2698G>A (p.Asp900Asn) GRCh37: Chr14:23893340 GRCh38: Chr14:23424131	MYH7	D900N	not provided	Likely pathogenic (Apr 10, 2012)	criteria provided, single submitter
Select item 13290875.	NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn) GRCh37: Chr14:23893352 GRCh38: Chr14:23424143	MYH7	D896N	Hypertrophic cardiomyopathy 1	Likely pathogenic (Nov 4, 2021)	criteria provided, single submitter
Select item 4292276.	NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) GRCh37: Chr14:23893357 GRCh38: Chr14:23424148	MYH7	E894G	Hypertrophic cardiomyopathy	Pathogenic (Dec 15, 2016)	reviewed by expert panel FDA Recognized Database
Select item 17778377.	NM_000257.4(MYH7):c.2246T>A (p.Leu749Gln) GRCh37: Chr14:23894944 GRCh38: Chr14:23425735	MYH7	L749Q	Cardiomyopathy	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 38027778.	NM_000257.4(MYH7):c.2222G>A (p.Gly741Glu) GRCh37: Chr14:23894968 GRCh38: Chr14:23425759	MYH7	G741E	Hypertrophic cardiomyopathy, not provided	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17766579.	NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) GRCh37: Chr14:23894969 GRCh38: Chr14:23425760	MYH7	G741W	Hypertrophic cardiomyopathy	Pathogenic (Dec 15, 2016)	reviewed by expert panel FDA Recognized Database
Select item 4289080.	NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) GRCh37: Chr14:23894969 GRCh38: Chr14:23425760	MYH7	G741R	Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1409881.	NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) GRCh37: Chr14:23894969 GRCh38: Chr14:23425760	MYH7	G741R	Hypertrophic cardiomyopathy	Pathogenic (Dec 15, 2016)	reviewed by expert panel FDA Recognized Database
Select item 16434282.	NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) GRCh37: Chr14:23894983 GRCh38: Chr14:23425774	MYH7	I736T	Hypertrophic cardiomyopathy	Pathogenic (Dec 15, 2016)	reviewed by expert panel FDA Recognized Database
Select item 21746483.	NM_000257.4(MYH7):c.2201A>C (p.Gln734Pro) GRCh37: Chr14:23894989 GRCh38: Chr14:23425780	MYH7	Q734P	Hypertrophic cardiomyopathy 1	Likely pathogenic	criteria provided, single submitter
Select item 65013184.	NM_000257.4(MYH7):c.2200C>G (p.Gln734Glu) GRCh37: Chr14:23894990 GRCh38: Chr14:23425781	MYH7	Q734E	Hypertrophic cardiomyopathy	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 18117785.	NM_000257.4(MYH7):c.2198G>T (p.Gly733Val) GRCh37: Chr14:23894992 GRCh38: Chr14:23425783	MYH7	G733V	not provided	Likely pathogenic (Oct 18, 2017)	criteria provided, single submitter
Select item 100123986.	NM_000257.4(MYH7):c.2192C>T (p.Pro731Leu) GRCh37: Chr14:23894998 GRCh38: Chr14:23425789	MYH7	P731L	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 93151287.	NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg) GRCh37: Chr14:23894998 GRCh38: Chr14:23425789	MYH7	P731R	Congenital myopathy with fiber type disproportion	Likely pathogenic (Mar 26, 2019)	criteria provided, single submitter
Select item 37706088.	NM_000257.4(MYH7):c.2191C>A (p.Pro731Thr) GRCh37: Chr14:23894999 GRCh38: Chr14:23425790	MYH7	P731T	Hypertrophic cardiomyopathy, not provided	Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18117689.	NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser) GRCh37: Chr14:23894999 GRCh38: Chr14:23425790	MYH7	P731S	Hypertrophic cardiomyopathy 1, not provided, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 147690590.	NM_000257.4(MYH7):c.2189T>A (p.Ile730Asn) GRCh37: Chr14:23895001 GRCh38: Chr14:23425792	MYH7	I730N	Hypertrophic cardiomyopathy	Likely pathogenic (Nov 24, 2021)	criteria provided, single submitter
Select item 40719391.	NM_000257.4(MYH7):c.2189T>C (p.Ile730Thr) GRCh37: Chr14:23895001 GRCh38: Chr14:23425792	MYH7	I730T	not provided, Hypertrophic cardiomyopathy	Likely pathogenic (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13291392.	NM_000257.4(MYH7):c.2174T>C (p.Leu725Pro) GRCh37: Chr14:23895016 GRCh38: Chr14:23425807	MYH7	L725P	Familial cardiomyopathy	Likely pathogenic	no assertion criteria provided
Select item 4288593.	NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) GRCh37: Chr14:23895023 GRCh38: Chr14:23425814	MYH7	R723G	Hypertrophic cardiomyopathy	Pathogenic (Dec 15, 2016)	reviewed by expert panel FDA Recognized Database
Select item 1409594.	NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) GRCh37: Chr14:23895023 GRCh38: Chr14:23425814	MYH7	R723C	Hypertrophic cardiomyopathy	Pathogenic (Dec 15, 2016)	reviewed by expert panel FDA Recognized Database
Select item 13291495.	NM_000257.4(MYH7):c.2163-1G>A GRCh37: Chr14:23895028 GRCh38: Chr14:23425819	MYH7		Dilated cardiomyopathy 1S	Pathogenic (Jun 21, 2018)	criteria provided, single submitter
Select item 21746096.	NM_000257.4(MYH7):c.2156G>C (p.Arg719Pro) GRCh37: Chr14:23895179 GRCh38: Chr14:23425970	MYH7	R719P	Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy	Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1410797.	NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) GRCh37: Chr14:23895179 GRCh38: Chr14:23425970	MYH7	R719Q	Hypertrophic cardiomyopathy	Pathogenic (Dec 15, 2016)	reviewed by expert panel FDA Recognized Database
Select item 1410498.	NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) GRCh37: Chr14:23895180 GRCh38: Chr14:23425971	MYH7	R719W	Hypertrophic cardiomyopathy	Pathogenic (Dec 15, 2016)	reviewed by expert panel FDA Recognized Database
Select item 178673799.	NM_000257.4(MYH7):c.2150A>C (p.Asp717Ala) GRCh37: Chr14:23895185 GRCh38: Chr14:23425976	MYH7	D717A	Cardiovascular phenotype	Pathogenic (Feb 22, 2021)	criteria provided, single submitter
Select item 1507204100.	NM_000257.4(MYH7):c.2146G>T (p.Gly716Trp) GRCh37: Chr14:23895189 GRCh38: Chr14:23425980	MYH7	G716W	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter

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