MYH6[gene] - ClinVar

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status	Accession
Select item 141461.	MYH6, MYH6/MYH7 HYBRID	MYH6		Myosin, cardiac, heavy chain variant	Pathogenic (Sep 7, 1990)	no assertion criteria provided	VCV000014146
Select item 1779882.	NM_002471.3(MYH6):c.*8T>C GRCh37: Chr14:23851241 GRCh38: Chr14:23382032	MYH6		not specified	Benign/Likely benign (Nov 18, 2016)	criteria provided, multiple submitters, no conflicts	VCV000177988
Select item 2391803.	NM_002471.3(MYH6):c.5809G>A (p.Asp1937Asn) GRCh37: Chr14:23851260 GRCh38: Chr14:23382051	MYH6	D1937N	Cardiovascular phenotype, not provided, Familial hypertrophic cardiomyopathy 14	Uncertain significance (Feb 1, 2016)	criteria provided, multiple submitters, no conflicts	VCV000239180
Select item 1804294.	NM_002471.3(MYH6):c.5796G>A (p.Lys1932=) GRCh37: Chr14:23851637 GRCh38: Chr14:23382428	MYH6		AV Block Third Degree Adverse Event	Uncertain significance (May 13, 2014)	no assertion criteria provided	VCV000180429
Select item 5666425.	NM_002471.3(MYH6):c.5794A>T (p.Lys1932Ter) GRCh37: Chr14:23851639 GRCh38: Chr14:23382430	MYH6	K1932*	Familial hypertrophic cardiomyopathy 14	Uncertain significance (Apr 19, 2018)	criteria provided, single submitter	VCV000566642
Select item 4705516.	NM_002471.3(MYH6):c.5780G>A (p.Arg1927His) GRCh37: Chr14:23851653 GRCh38: Chr14:23382444	MYH6	R1927H	Familial hypertrophic cardiomyopathy 14	Uncertain significance (Aug 10, 2018)	criteria provided, single submitter	VCV000470551
Select item 1804287.	NM_002471.3(MYH6):c.5780G>T (p.Arg1927Leu) GRCh37: Chr14:23851653 GRCh38: Chr14:23382444	MYH6	R1927L	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Dec 10, 2014)	no assertion criteria provided	VCV000180428
Select item 6462388.	NM_002471.3:c.5779C>T GRCh38: Chr14:23382445	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Nov 26, 2018)	criteria provided, single submitter	VCV000646238
Select item 2646229.	NM_002471.3(MYH6):c.5767C>T (p.Arg1923Ter) GRCh37: Chr14:23851666 GRCh38: Chr14:23382457	MYH6	R1923*	Cardiovascular phenotype, Familial hypertrophic cardiomyopathy 14	Uncertain significance (Aug 18, 2017)	criteria provided, multiple submitters, no conflicts	VCV000264622
Select item 62653210.	NM_002471.3(MYH6):c.5748G>C (p.Glu1916Asp) GRCh37: Chr14:23851685 GRCh38: Chr14:23382476	MYH6	E1916D	Cardiomyopathy	Uncertain significance (Oct 22, 2015)	criteria provided, single submitter	VCV000626532
Select item 52040611.	NM_002471.3(MYH6):c.5737G>A (p.Asp1913Asn) GRCh37: Chr14:23851696 GRCh38: Chr14:23382487	MYH6	D1913N	Familial hypertrophic cardiomyopathy 14	Uncertain significance (Nov 27, 2017)	criteria provided, single submitter	VCV000520406
Select item 17902112.	NM_002471.3(MYH6):c.5735C>T (p.Ala1912Val) GRCh37: Chr14:23851698 GRCh38: Chr14:23382489	MYH6	A1912V	not specified	Uncertain significance (Jul 3, 2014)	criteria provided, single submitter	VCV000179021
Select item 37375613.	NM_002471.3(MYH6):c.5710G>A (p.Glu1904Lys) GRCh37: Chr14:23851723 GRCh38: Chr14:23382514	MYH6	E1904K	not provided	Uncertain significance (Dec 9, 2016)	criteria provided, single submitter	VCV000373756
Select item 4454014.	NM_002471.3(MYH6):c.5700G>C (p.Lys1900Asn) GRCh37: Chr14:23851733 GRCh38: Chr14:23382524	MYH6	K1900N	not specified	Uncertain significance (May 31, 2012)	criteria provided, single submitter	VCV000044540
Select item 39223315.	NM_002471.3(MYH6):c.5696G>A (p.Arg1899His) GRCh37: Chr14:23851737 GRCh38: Chr14:23382528	MYH6	R1899H	not provided	Uncertain significance (Dec 27, 2016)	criteria provided, single submitter	VCV000392233
Select item 64739016.	NM_002471.3:c.5695C>T GRCh38: Chr14:23382529	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Dec 18, 2018)	criteria provided, single submitter	VCV000647390
Select item 53794517.	NM_002471.3(MYH6):c.5694C>G (p.Phe1898Leu) GRCh37: Chr14:23851739 GRCh38: Chr14:23382530	MYH6	F1898L	Familial hypertrophic cardiomyopathy 14	Uncertain significance (Oct 5, 2017)	criteria provided, single submitter	VCV000537945
Select item 26371918.	NM_002471.3(MYH6):c.5692T>G (p.Phe1898Val) GRCh37: Chr14:23851741 GRCh38: Chr14:23382532	MYH6	F1898V	Cardiovascular phenotype	Uncertain significance (Sep 15, 2013)	criteria provided, single submitter	VCV000263719
Select item 64027619.	NM_002471.3:c.5662G>A GRCh38: Chr14:23382562	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Dec 3, 2018)	criteria provided, single submitter	VCV000640276
Select item 4453820.	NM_002471.3(MYH6):c.5662-6C>T GRCh37: Chr14:23851777 GRCh38: Chr14:23382568	MYH6		not specified	Uncertain significance (Jan 16, 2013)	criteria provided, single submitter	VCV000044538
Select item 41432721.	NM_002471.3(MYH6):c.5661+9A>G GRCh37: Chr14:23852425 GRCh38: Chr14:23383216	MYH6		Familial hypertrophic cardiomyopathy 14	Likely benign (Jul 18, 2016)	criteria provided, single submitter	VCV000414327
Select item 57869822.	NM_002471.3(MYH6):c.5661G>A (p.Ala1887=) GRCh37: Chr14:23852434 GRCh38: Chr14:23383225	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Apr 23, 2018)	criteria provided, single submitter	VCV000578698
Select item 52036323.	NM_002471.3(MYH6):c.5660C>T (p.Ala1887Val) GRCh37: Chr14:23852435 GRCh38: Chr14:23383226	MYH6	A1887V	Cardiovascular phenotype	Uncertain significance (Jun 20, 2017)	criteria provided, single submitter	VCV000520363
Select item 64209324.	NM_002471.3:c.5656G>A GRCh38: Chr14:23383230	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Dec 18, 2018)	criteria provided, single submitter	VCV000642093
Select item 53796625.	NM_002471.3(MYH6):c.5653G>A (p.Glu1885Lys) GRCh37: Chr14:23852442 GRCh38: Chr14:23383233	MYH6	E1885K	Familial hypertrophic cardiomyopathy 14	Uncertain significance (Nov 13, 2017)	criteria provided, single submitter	VCV000537966
Select item 31283926.	NM_002471.3(MYH6):c.5652C>T (p.Ala1884=) GRCh37: Chr14:23852443 GRCh38: Chr14:23383234	MYH6		Cardiovascular phenotype, not specified, Atrial septal defect, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, not provided, Familial hypertrophic cardiomyopathy 14	Conflicting interpretations of pathogenicity (Jun 14, 2016)	criteria provided, conflicting interpretations	VCV000312839
Select item 49616027.	NM_002471.3(MYH6):c.5642A>G (p.Lys1881Arg) GRCh37: Chr14:23852453 GRCh38: Chr14:23383244	MYH6	K1881R	not provided, Familial hypertrophic cardiomyopathy 14	Conflicting interpretations of pathogenicity (Jul 20, 2018)	criteria provided, conflicting interpretations	VCV000496160
Select item 51913628.	NM_002471.3(MYH6):c.5635G>A (p.Ala1879Thr) GRCh37: Chr14:23852460 GRCh38: Chr14:23383251	MYH6	A1879T	Cardiovascular phenotype	Uncertain significance (Nov 9, 2016)	criteria provided, single submitter	VCV000519136
Select item 58210329.	NM_002471.3(MYH6):c.5627A>G (p.Lys1876Arg) GRCh37: Chr14:23852468 GRCh38: Chr14:23383259	MYH6	K1876R	Familial hypertrophic cardiomyopathy 14	Uncertain significance (Feb 28, 2018)	criteria provided, single submitter	VCV000582103
Select item 26398930.	NM_002471.3(MYH6):c.5601G>A (p.Gln1867=) GRCh37: Chr14:23852494 GRCh38: Chr14:23383285	MYH6		Cardiovascular phenotype, not specified, Familial hypertrophic cardiomyopathy 14	Benign/Likely benign (Oct 18, 2017)	criteria provided, multiple submitters, no conflicts	VCV000263989
Select item 25871531.	NM_002471.3(MYH6):c.5598A>G (p.Leu1866=) GRCh37: Chr14:23852497 GRCh38: Chr14:23383288	MYH6		Dilated Cardiomyopathy, Dominant, not specified, Atrial septal defect, Familial hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Hypertrophic cardiomyopathy	Benign/Likely benign (Jun 14, 2016)	criteria provided, multiple submitters, no conflicts	VCV000258715
Select item 52053132.	NM_002471.3(MYH6):c.5594G>A (p.Arg1865Gln) GRCh37: Chr14:23852501 GRCh38: Chr14:23383292	MYH6	R1865Q	Familial hypertrophic cardiomyopathy 14, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 30, 2016)	criteria provided, multiple submitters, no conflicts	VCV000520531
Select item 31284033.	NM_002471.3(MYH6):c.5587C>T (p.Leu1863=) GRCh37: Chr14:23852508 GRCh38: Chr14:23383299	MYH6		Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000312840
Select item 47055034.	NM_002471.3(MYH6):c.5575G>A (p.Asp1859Asn) GRCh37: Chr14:23852520 GRCh38: Chr14:23383311	MYH6	D1859N	Familial hypertrophic cardiomyopathy 14	Uncertain significance (Jul 20, 2017)	criteria provided, single submitter	VCV000470550
Select item 31284135.	NM_002471.3(MYH6):c.5566-7C>T GRCh37: Chr14:23852536 GRCh38: Chr14:23383327	MYH6		not specified, Atrial septal defect, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Familial hypertrophic cardiomyopathy 14	Conflicting interpretations of pathogenicity (Jun 14, 2016)	criteria provided, conflicting interpretations	VCV000312841
Select item 49615936.	NM_002471.3(MYH6):c.5566-9C>T GRCh37: Chr14:23852538 GRCh38: Chr14:23383329	MYH6		not provided	Uncertain significance (Sep 22, 2016)	criteria provided, single submitter	VCV000496159
Select item 25871437.	NM_002471.3(MYH6):c.5565+22A>G GRCh37: Chr14:23853629 GRCh38: Chr14:23384420	MYH6		not specified	Benign	criteria provided, single submitter	VCV000258714
Select item 47054938.	NM_002471.3(MYH6):c.5565+7_5565+8insTT GRCh37: Chr14:23853643-23853644 GRCh38: Chr14:23384434-23384435	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Feb 10, 2017)	criteria provided, single submitter	VCV000470549
Select item 47054839.	NM_002471.3(MYH6):c.5553G>A (p.Glu1851=) GRCh37: Chr14:23853663 GRCh38: Chr14:23384454	MYH6		Familial hypertrophic cardiomyopathy 14	Likely benign (Jul 18, 2017)	criteria provided, single submitter	VCV000470548
Select item 51895240.	NM_002471.3(MYH6):c.5544C>T (p.Arg1848=) GRCh37: Chr14:23853672 GRCh38: Chr14:23384463	MYH6		Cardiovascular phenotype	Likely benign (Dec 29, 2016)	criteria provided, single submitter	VCV000518952
Select item 51895541.	NM_002471.3(MYH6):c.5542C>T (p.Arg1848Cys) GRCh37: Chr14:23853674 GRCh38: Chr14:23384465	MYH6	R1848C	Familial hypertrophic cardiomyopathy 14, Cardiovascular phenotype	Uncertain significance (Aug 2, 2018)	criteria provided, multiple submitters, no conflicts	VCV000518955
Select item 26418942.	NM_002471.3(MYH6):c.5540G>A (p.Arg1847Gln) GRCh37: Chr14:23853676 GRCh38: Chr14:23384467	MYH6	R1847Q	Familial hypertrophic cardiomyopathy 14, Cardiovascular phenotype	Uncertain significance (Nov 27, 2018)	criteria provided, multiple submitters, no conflicts	VCV000264189
Select item 66031643.	NM_002471.3:c.5539C>G GRCh38: Chr14:23384468	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Jul 20, 2018)	criteria provided, single submitter	VCV000660316
Select item 26421444.	NM_002471.3(MYH6):c.5519A>G (p.Lys1840Arg) GRCh37: Chr14:23853697 GRCh38: Chr14:23384488	MYH6	K1840R	not provided, Familial hypertrophic cardiomyopathy 14, Cardiovascular phenotype	Uncertain significance (Apr 26, 2017)	criteria provided, multiple submitters, no conflicts	VCV000264214
Select item 66430745.	NM_002471.3:c.5515G>T GRCh38: Chr14:23384492	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Dec 5, 2018)	criteria provided, single submitter	VCV000664307
Select item 16421246.	NM_002471.3(MYH6):c.5514G>T (p.Ser1838=) GRCh37: Chr14:23853702 GRCh38: Chr14:23384493	MYH6		Familial hypertrophic cardiomyopathy 14, not specified	Likely benign (Apr 20, 2013)	criteria provided, multiple submitters, no conflicts	VCV000164212
Select item 47054747.	NM_002471.3(MYH6):c.5513C>T (p.Ser1838Leu) GRCh37: Chr14:23853703 GRCh38: Chr14:23384494	MYH6	S1838L	not provided, Familial hypertrophic cardiomyopathy 14	Uncertain significance (May 18, 2017)	criteria provided, multiple submitters, no conflicts	VCV000470547
Select item 3663348.	NM_002471.3(MYH6):c.5508A>G (p.Ala1836=) GRCh37: Chr14:23853708 GRCh38: Chr14:23384499	MYH6		Cardiomyopathy	Likely benign (Aug 18, 2011)	criteria provided, single submitter	VCV000036633
Select item 51270849.	NM_002471.3(MYH6):c.5505C>T (p.Asn1835=) GRCh37: Chr14:23853711 GRCh38: Chr14:23384502	MYH6		not specified	Likely benign (Oct 20, 2017)	criteria provided, single submitter	VCV000512708
Select item 31284250.	NM_002471.3(MYH6):c.5500C>T (p.Arg1834Cys) GRCh37: Chr14:23853716 GRCh38: Chr14:23384507	MYH6	R1834C	Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000312842
Select item 19697551.	NM_002471.3(MYH6):c.5491G>A (p.Glu1831Lys) GRCh37: Chr14:23853725 GRCh38: Chr14:23384516	MYH6	E1831K	not provided, Inborn genetic diseases	Uncertain significance (Mar 14, 2017)	criteria provided, multiple submitters, no conflicts	VCV000196975
Select item 51360352.	NM_002471.3(MYH6):c.5490C>T (p.Ala1830=) GRCh37: Chr14:23853726 GRCh38: Chr14:23384517	MYH6		not specified	Likely benign (Nov 27, 2017)	criteria provided, single submitter	VCV000513603
Select item 17910153.	NM_002471.3(MYH6):c.5485G>C (p.Glu1829Gln) GRCh37: Chr14:23853731 GRCh38: Chr14:23384522	MYH6	E1829Q	not specified	Uncertain significance (Aug 11, 2013)	criteria provided, single submitter	VCV000179101
Select item 23917954.	NM_002471.3(MYH6):c.5476_5477delGGinsAA (p.Gly1826Asn) GRCh37: Chr14:23853739-23853740 GRCh38: Chr14:23384530-23384531	MYH6		Cardiovascular phenotype, Cardiomyopathy, Familial hypertrophic cardiomyopathy 14	Uncertain significance (Sep 4, 2018)	criteria provided, multiple submitters, no conflicts	VCV000239179
Select item 4453755.	NM_002471.3(MYH6):c.5475G>A (p.Glu1825=) GRCh37: Chr14:23853741 GRCh38: Chr14:23384532	MYH6		Cardiovascular phenotype, Atrial septal defect, Cardiomyopathy, Familial hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, not specified	Benign/Likely benign (Nov 30, 2011)	criteria provided, multiple submitters, no conflicts	VCV000044537
Select item 53796456.	NM_002471.3(MYH6):c.5465G>A (p.Arg1822Gln) GRCh37: Chr14:23853751 GRCh38: Chr14:23384542	MYH6	R1822Q	Familial hypertrophic cardiomyopathy 14	Uncertain significance (Aug 25, 2017)	criteria provided, single submitter	VCV000537964
Select item 22889757.	NM_002471.3(MYH6):c.5458C>T (p.Arg1820Trp) GRCh37: Chr14:23853758 GRCh38: Chr14:23384549	MYH6	R1820W	not specified, Cardiovascular phenotype, not provided	Uncertain significance (May 19, 2015)	criteria provided, multiple submitters, no conflicts	VCV000228897
Select item 4453658.	NM_002471.3(MYH6):c.5439G>A (p.Gln1813=) GRCh37: Chr14:23853777 GRCh38: Chr14:23384568	MYH6		not specified, Atrial septal defect, Familial hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Jun 14, 2016)	criteria provided, conflicting interpretations	VCV000044536
Select item 52183759.	NM_002471.3(MYH6):c.5428G>A (p.Gly1810Ser) GRCh37: Chr14:23853788 GRCh38: Chr14:23384579	MYH6	G1810S	Inborn genetic diseases	Uncertain significance (May 31, 2017)	criteria provided, single submitter	VCV000521837
Select item 31284360.	NM_002471.3(MYH6):c.5410C>A (p.Gln1804Lys) GRCh37: Chr14:23853806 GRCh38: Chr14:23384597	MYH6	Q1804K	Cardiovascular phenotype, not specified, Atrial septal defect, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Familial hypertrophic cardiomyopathy 14	Conflicting interpretations of pathogenicity (Jun 14, 2016)	criteria provided, conflicting interpretations	VCV000312843
Select item 31284461.	NM_002471.3(MYH6):c.5403G>A (p.Glu1801=) GRCh37: Chr14:23853813 GRCh38: Chr14:23384604	MYH6		Atrial septal defect, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Familial hypertrophic cardiomyopathy 14	Conflicting interpretations of pathogenicity (Jun 14, 2016)	criteria provided, conflicting interpretations	VCV000312844
Select item 4453562.	NM_002471.3(MYH6):c.5400C>T (p.Asp1800=) GRCh37: Chr14:23853816 GRCh38: Chr14:23384607	MYH6		not specified, Familial hypertrophic cardiomyopathy 14, not provided	Conflicting interpretations of pathogenicity (Feb 7, 2012)	criteria provided, conflicting interpretations	VCV000044535
Select item 49848263.	NM_002471.3(MYH6):c.5393G>A (p.Arg1798Gln) GRCh37: Chr14:23853823 GRCh38: Chr14:23384614	MYH6	R1798Q	not provided	Uncertain significance (Dec 9, 2016)	criteria provided, single submitter	VCV000498482
Select item 31284564.	NM_002471.3(MYH6):c.5367G>A (p.Glu1789=) GRCh37: Chr14:23853849 GRCh38: Chr14:23384640	MYH6		Atrial septal defect, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Familial hypertrophic cardiomyopathy 14	Conflicting interpretations of pathogenicity (Jun 14, 2016)	criteria provided, conflicting interpretations	VCV000312845
Select item 26350865.	NM_002471.3(MYH6):c.5348G>A (p.Arg1783His) GRCh37: Chr14:23853868 GRCh38: Chr14:23384659	MYH6	R1783H	Cardiovascular phenotype, Familial hypertrophic cardiomyopathy 14, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 10, 2017)	criteria provided, multiple submitters, no conflicts	VCV000263508
Select item 31284666.	NM_002471.3(MYH6):c.5347C>T (p.Arg1783Cys) GRCh37: Chr14:23853869 GRCh38: Chr14:23384660	MYH6	R1783C	Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Atrial septal defect	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000312846
Select item 22271867.	NM_002471.3(MYH6):c.5336C>A (p.Ala1779Asp) GRCh37: Chr14:23853880 GRCh38: Chr14:23384671	MYH6	A1779D	Cardiovascular phenotype, not specified, Familial hypertrophic cardiomyopathy 14	Uncertain significance (Oct 8, 2018)	criteria provided, multiple submitters, no conflicts	VCV000222718
Select item 52037268.	NM_002471.3(MYH6):c.5297T>C (p.Met1766Thr) GRCh37: Chr14:23853919 GRCh38: Chr14:23384710	MYH6	M1766T	Cardiovascular phenotype	Uncertain significance (Sep 18, 2017)	criteria provided, single submitter	VCV000520372
Select item 4453469.	NM_002471.3(MYH6):c.5296A>G (p.Met1766Val) GRCh37: Chr14:23853920 GRCh38: Chr14:23384711	MYH6	M1766V	not specified	Uncertain significance (Jan 3, 2012)	criteria provided, single submitter	VCV000044534
Select item 4453370.	NM_002471.3(MYH6):c.5293G>A (p.Ala1765Thr) GRCh37: Chr14:23853923 GRCh38: Chr14:23384714	MYH6	A1765T	Cardiomyopathy, Cardiovascular phenotype, not specified, Familial hypertrophic cardiomyopathy 14	Uncertain significance (Aug 1, 2018)	criteria provided, multiple submitters, no conflicts	VCV000044533
Select item 51116771.	NM_002471.3(MYH6):c.5290-11C>G GRCh37: Chr14:23853937 GRCh38: Chr14:23384728	MYH6		not specified	Likely benign (Aug 3, 2017)	criteria provided, single submitter	VCV000511167
Select item 51565872.	NM_002471.3(MYH6):c.5271C>T (p.Ala1757=) GRCh37: Chr14:23854143 GRCh38: Chr14:23384934	MYH6		not specified	Likely benign (Feb 26, 2018)	criteria provided, single submitter	VCV000515658
Select item 43243773.	NM_002471.3(MYH6):c.5267A>G (p.Lys1756Arg) GRCh37: Chr14:23854147 GRCh38: Chr14:23384938	MYH6	K1756R	not provided	Uncertain significance (May 30, 2017)	criteria provided, single submitter	VCV000432437
Select item 64284674.	NM_002471.3:c.5260G>A GRCh38: Chr14:23384945	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Jul 2, 2018)	criteria provided, single submitter	VCV000642846
Select item 31284775.	NM_002471.3(MYH6):c.5260G>C (p.Glu1754Gln) GRCh37: Chr14:23854154 GRCh38: Chr14:23384945	MYH6	E1754Q	Atrial septal defect, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000312847
Select item 4453276.	NM_002471.3(MYH6):c.5259C>T (p.Ala1753=) GRCh37: Chr14:23854155 GRCh38: Chr14:23384946	MYH6		Atrial septal defect, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype, not specified	Benign/Likely benign (Jun 14, 2016)	criteria provided, multiple submitters, no conflicts	VCV000044532
Select item 52053277.	NM_002471.3(MYH6):c.5257G>C (p.Ala1753Pro) GRCh37: Chr14:23854157 GRCh38: Chr14:23384948	MYH6	A1753P	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 30, 2016)	criteria provided, single submitter	VCV000520532
Select item 53797378.	NM_002471.3(MYH6):c.5251A>C (p.Arg1751=) GRCh37: Chr14:23854163 GRCh38: Chr14:23384954	MYH6		Familial hypertrophic cardiomyopathy 14	Likely benign (Oct 21, 2017)	criteria provided, single submitter	VCV000537973
Select item 51910479.	NM_002471.3(MYH6):c.5201C>T (p.Ser1734Leu) GRCh37: Chr14:23854213 GRCh38: Chr14:23385004	MYH6	S1734L	Cardiovascular phenotype	Uncertain significance (Mar 6, 2018)	criteria provided, single submitter	VCV000519104
Select item 26429480.	NM_002471.3(MYH6):c.5192_5194delAGA (p.Lys1731del) GRCh37: Chr14:23854220-23854222 GRCh38: Chr14:23385011-23385013	MYH6	K1731del	Cardiovascular phenotype	Uncertain significance (Aug 25, 2015)	criteria provided, single submitter	VCV000264294
Select item 66582781.	NM_002471.3:c.5192A>T GRCh38: Chr14:23385013	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Aug 1, 2018)	criteria provided, single submitter	VCV000665827
Select item 64579882.	NM_002471.3:c.5164A>C GRCh38: Chr14:23385041	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Aug 11, 2018)	criteria provided, single submitter	VCV000645798
Select item 25871383.	NM_002471.3(MYH6):c.5164-22A>G GRCh37: Chr14:23854272 GRCh38: Chr14:23385063	MYH6		not specified	Benign	criteria provided, single submitter	VCV000258713
Select item 39191584.	NM_002471.3(MYH6):c.5163+3G>A GRCh37: Chr14:23855134 GRCh38: Chr14:23385925	MYH6		not specified	Likely benign (Jan 2, 2018)	criteria provided, single submitter	VCV000391915
Select item 51850285.	NM_002471.3(MYH6):c.5141G>C (p.Arg1714Pro) GRCh37: Chr14:23855159 GRCh38: Chr14:23385950	MYH6	R1714P	Cardiovascular phenotype	Uncertain significance (Feb 17, 2016)	criteria provided, single submitter	VCV000518502
Select item 23917886.	NM_002471.3(MYH6):c.5140C>A (p.Arg1714=) GRCh37: Chr14:23855160 GRCh38: Chr14:23385951	MYH6		Familial hypertrophic cardiomyopathy 14	Likely benign (Oct 25, 2016)	criteria provided, single submitter	VCV000239178
Select item 19170887.	NM_002471.3(MYH6):c.5140C>T (p.Arg1714Trp) GRCh37: Chr14:23855160 GRCh38: Chr14:23385951	MYH6	R1714W	not provided	Uncertain significance (Jun 24, 2013)	criteria provided, single submitter	VCV000191708
Select item 26345188.	NM_002471.3(MYH6):c.5137G>A (p.Glu1713Lys) GRCh37: Chr14:23855163 GRCh38: Chr14:23385954	MYH6	E1713K	not provided, Familial hypertrophic cardiomyopathy 14, Cardiovascular phenotype	Uncertain significance (Jul 29, 2016)	criteria provided, multiple submitters, no conflicts	VCV000263451
Select item 23917789.	NM_002471.3(MYH6):c.5137G>C (p.Glu1713Gln) GRCh37: Chr14:23855163 GRCh38: Chr14:23385954	MYH6	E1713Q	Familial hypertrophic cardiomyopathy 14	Uncertain significance (Nov 19, 2015)	criteria provided, single submitter	VCV000239177
Select item 4453190.	NM_002471.3(MYH6):c.5136C>T (p.Ser1712=) GRCh37: Chr14:23855164 GRCh38: Chr14:23385955	MYH6		not specified	Likely benign (Jan 23, 2013)	criteria provided, single submitter	VCV000044531
Select item 19170991.	NM_002471.3(MYH6):c.5135G>T (p.Ser1712Ile) GRCh37: Chr14:23855165 GRCh38: Chr14:23385956	MYH6	S1712I	Dilated cardiomyopathy 1EE, Familial hypertrophic cardiomyopathy 1, Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Familial hypertrophic cardiomyopathy 14, not provided	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts	VCV000191709
Select item 53797992.	NM_002471.3(MYH6):c.5133C>G (p.Thr1711=) GRCh37: Chr14:23855167 GRCh38: Chr14:23385958	MYH6		Familial hypertrophic cardiomyopathy 14	Likely benign (Jan 18, 2018)	criteria provided, single submitter	VCV000537979
Select item 65140993.	NM_002471.3:c.5128G>A GRCh38: Chr14:23385963	MYH6		Familial hypertrophic cardiomyopathy 14	Uncertain significance (Oct 29, 2018)	criteria provided, single submitter	VCV000651409
Select item 22759294.	NM_002471.3(MYH6):c.5112G>A (p.Ala1704=) GRCh37: Chr14:23855188 GRCh38: Chr14:23385979	MYH6		Cardiovascular phenotype, not specified, Atrial septal defect, Familial hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant	Conflicting interpretations of pathogenicity (Jun 14, 2016)	criteria provided, conflicting interpretations	VCV000227592
Select item 52345295.	NM_002471.3(MYH6):c.5111C>T (p.Ala1704Val) GRCh37: Chr14:23855189 GRCh38: Chr14:23385980	MYH6	A1704V	Hypertrophic cardiomyopathy, Chest pain, Familial hypertrophic cardiomyopathy 14	Uncertain significance (Jan 1, 2017)	criteria provided, multiple submitters, no conflicts	VCV000523452
Select item 53795196.	NM_002471.3(MYH6):c.5102G>A (p.Arg1701Gln) GRCh37: Chr14:23855198 GRCh38: Chr14:23385989	MYH6	R1701Q	Familial hypertrophic cardiomyopathy 14	Uncertain significance (Dec 4, 2017)	criteria provided, single submitter	VCV000537951
Select item 22889697.	NM_002471.3(MYH6):c.5101C>T (p.Arg1701Trp) GRCh37: Chr14:23855199 GRCh38: Chr14:23385990	MYH6	R1701W	not specified	Uncertain significance (Jul 7, 2015)	criteria provided, single submitter	VCV000228896
Select item 16421498.	NM_002471.3(MYH6):c.5089A>G (p.Thr1697Ala) GRCh37: Chr14:23855211 GRCh38: Chr14:23386002	MYH6	T1697A	not specified	Uncertain significance (Jan 22, 2014)	criteria provided, single submitter	VCV000164214
Select item 37355599.	NM_002471.3(MYH6):c.5077G>A (p.Val1693Met) GRCh37: Chr14:23855223 GRCh38: Chr14:23386014	MYH6	V1693M	Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, Dilated cardiomyopathy 1EE, Familial hypertrophic cardiomyopathy 14, Familial hypertrophic cardiomyopathy 1, not specified, Cardiomyopathy	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts	VCV000373555
Select item 178868100.	NM_002471.3(MYH6):c.5072G>A (p.Arg1691His) GRCh37: Chr14:23855228 GRCh38: Chr14:23386019	MYH6	R1691H	Hypertrophic cardiomyopathy, not specified	Uncertain significance (Apr 9, 2013)	criteria provided, multiple submitters, no conflicts	VCV000178868

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