MYH11

Clinically classified variants

50 reference-table entries with clinical significance.

• rs113154524Benignsingle nucleotide variantAortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Connective tissue disorder
• rs113363750Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4|Cardiovascular phenotype
• rs137934837Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4|Cardiovascular phenotype|Connective tissue disorder
• rs138168272Benignsingle nucleotide variantCardiovascular phenotype|Lissencephaly 4|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4
• rs16967494Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Lissencephaly, Recessive|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2|VISCERAL MYOPATHY 2
• rs200315340Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4
• rs2272554Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2|VISCERAL MYOPATHY 2
• rs61734198Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4
• rs74009414Benignsingle nucleotide variantAortic aneurysm, familial thoracic 4|Lissencephaly, Recessive|Lissencephaly 4
• rs760023Benignsingle nucleotide variantAortic aneurysm, familial thoracic 4|Lissencephaly, Recessive|Lissencephaly 4
• rs79129097Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4
• rs1064795023Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
• rs111404182Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 4|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
• rs111854563Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4|Isolated thoracic aortic aneurysm
• rs111936548Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4
• rs112161189Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4
• rs112861184Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Connective tissue disorder|Aortic aneurysm, familial thoracic 4
• rs113577450Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4|Cardiovascular phenotype
• rs113667224Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4|Connective tissue disorder
• rs137988790Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4
• rs138059405Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4|Lissencephaly, Recessive|Cardiovascular phenotype
• rs138977949Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4|Cardiovascular phenotype
• rs140267000Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4
• rs140577744Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4
• rs142546324Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection
• rs142639688Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Lissencephaly, Recessive|Aortic aneurysm, familial thoracic 4|Cardiovascular phenotype|Connective tissue disorder
• rs143288748Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 4|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
• rs144244239Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Aortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection
• rs144421849Conflicting interpretationssingle nucleotide variantLissencephaly, Recessive|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4
• rs146024732Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Lissencephaly, Recessive|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4
• rs146388001Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4
• rs150759461Conflicting interpretationssingle nucleotide variantAltered myosin contractile function|Loeys-Dietz syndrome|Aortic aneurysm, familial thoracic 4|Inborn genetic diseases|Connective tissue disorder|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4|Congenital aneurysm of ascending aorta
• rs184847335Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Connective tissue disorder|Aortic aneurysm, familial thoracic 4
• rs185661462Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 4|Cardiovascular phenotype|Connective tissue disorder|Familial thoracic aortic aneurysm and aortic dissection
• rs190546350Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 4|Lissencephaly 4|Familial thoracic aortic aneurysm and aortic dissection
• rs200672270Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Connective tissue disorder|Aortic aneurysm, familial thoracic 4
• rs201960644Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype
• rs374454281Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 4|Lissencephaly, Recessive|Familial thoracic aortic aneurysm and aortic dissection
• rs374454501Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Lissencephaly, Recessive|Aortic aneurysm, familial thoracic 4
• rs757501817Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Lissencephaly, Recessive|Aortic aneurysm, familial thoracic 4
• rs794728672Likely pathogenicsingle nucleotide variant
• rs267606902Pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype
• rs749497185PathogenicDeletionAortic aneurysm, familial thoracic 4|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
• rs786205435Pathogenicsingle nucleotide variantVisceral myopathy|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
• rs797045725PathogenicDeletionAortic aneurysm, familial thoracic 4|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
• rs111588143Uncertain significancesingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4
• rs193922629Uncertain significancesingle nucleotide variantAortic aneurysm, familial thoracic 4|Cardiovascular phenotype
• rs267606901Uncertain significancesingle nucleotide variantCardiovascular phenotype
• rs34321232Uncertain significancesingle nucleotide variantAortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Connective tissue disorder
• rs771297865Uncertain significancesingle nucleotide variantAortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection

Other listed variants

• rs215571
• rs215590
• rs215592
• rs216154
• rs216169
• rs881803
• rs1109420
• rs2075516
• rs2242548
• rs3851706
• rs4541094
• rs4781691
• rs6498573
• rs7184181
• rs7184472
• rs7191126
• rs7192541
• rs7206892
• rs8045271
• rs8059018
• rs9923303
• rs11641649
• rs11866891
• rs13332091
• rs35578059
• rs56003624
• rs59996655
• rs62030580
• rs72772013
• rs72772017
• rs76699771
• rs79771122
• rs79973433
• rs80193254
• rs80205263
• rs112927071
• rs116905849
• rs117331020
• rs117741820

Public references

• NCBI Gene
• Ensembl
• ClinVar