C5543466[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 514103	NM_002474.3(MYH11):c.5829A>G (p.Gly1943=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Visceral myopathy 2 +4 more	GLikely benign
Select item 1218188	NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu)	MYH11, NDE1	Insertion (3 prime UTR variant +2 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +4 more	GUncertain significance
Select item 503630	NM_002474.3(MYH11):c.5788C>T (p.Arg1930Ter)	MYH11, NDE1 (R1930* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 920686	NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter)	MYH11, NDE1 (Q1945* +1 more)	Single nucleotide variant (nonsense +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 201092	NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr)	MYH11, NDE1 (A1923T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 927693	NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln)	MYH11, NDE1 (R1905Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 519935	NM_002474.3(MYH11):c.5684G>A (p.Arg1895His)	MYH11, NDE1 (R1895H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 1015991	NM_002474.3(MYH11):c.5628T>A (p.Asn1876Lys)	MYH11, NDE1 (N1876K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 927691	NM_002474.3(MYH11):c.5584C>T (p.Arg1862Cys)	MYH11, NDE1 (R1869C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 918235	NM_002474.3(MYH11):c.5496G>C (p.Gln1832His)	MYH11, NDE1 (Q1832H +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 618231	NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe)	MYH11, NDE1 (S1814F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1677443	NM_002474.3(MYH11):c.5375G>C (p.Arg1792Pro)	MYH11, NDE1 (R1792P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 519962	NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser)	NDE1, MYH11 (A1780S +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 405472	NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys)	MYH11, NDE1 (T1786K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GUncertain significance
Select item 318096	NM_002474.3(MYH11):c.5330G>A (p.Arg1777His)	MYH11, NDE1 (R1784H +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly, Recessive +3 more	GUncertain significance
Select item 928175	NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile)	MYH11, NDE1 (T1770I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 1374641	NM_002474.3(MYH11):c.5278C>T (p.Arg1760Cys)	MYH11, NDE1 (R1760C +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 581863	NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln)	MYH11, NDE1 (R1744Q +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 405462	NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu)	MYH11, NDE1 (S1729L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 923603	NM_002474.3(MYH11):c.5125G>A (p.Glu1709Lys)	MYH11, NDE1 (E1716K +1 more)	Single nucleotide variant (missense variant +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +3 more	GUncertain significance
Select item 465745	NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr)	MYH11, NDE1 (A1705T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 201081	NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu)	MYH11, NDE1 (R1665L +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 161318	NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys)	MYH11, NDE1 (R1655C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 561304	NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn)	MYH11, NDE1 (D1634N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GUncertain significance
Select item 36622	NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)	MYH11, NDE1 (K1628Q +1 more)	Single nucleotide variant (missense variant +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +6 more	GUncertain significance
Select item 636781	NM_002474.3(MYH11):c.4835G>A (p.Arg1612His)	MYH11, NDE1 (R1612H +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 423952	NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys)	MYH11, NDE1 (R1612C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 318108	NM_002474.3(MYH11):c.4791+13G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 228870	NM_002474.3(MYH11):c.4791+5G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +5 more	GUncertain significance
Select item 201115	NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu)	MYH11, NDE1 (Q1586E +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 925198	NM_002474.3(MYH11):c.4729G>A (p.Glu1577Lys)	MYH11, NDE1 (E1577K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 201078	NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu)	MYH11, NDE1 (K1573E +1 more)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 2 +4 more	GUncertain significance
Select item 465739	NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr)	NDE1, MYH11 (M1576T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1060205	NM_002474.3(MYH11):c.4627G>A (p.Glu1543Lys)	MYH11, NDE1 (E1543K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 664987	NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr)	MYH11, NDE1 (A1536T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 378206	NM_002474.3(MYH11):c.4578+19T>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +4 more	GBenign/Likely benign
Select item 264056	NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn)	MYH11, NDE1 (D1515N +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +5 more	GUncertain significance
Select item 920154	NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly)	MYH11, NDE1 (A1483G +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +5 more	GUncertain significance
Select item 424507	NM_002474.3(MYH11):c.4418G>T (p.Arg1473Ile)	MYH11, NDE1 (R1473I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 201076	NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val)	MYH11, NDE1 (A1468V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 857118	NM_002474.3(MYH11):c.4358T>C (p.Phe1453Ser)	MYH11, NDE1 (F1460S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 424387	NM_002474.3(MYH11):c.4319G>A (p.Arg1440Gln)	MYH11, NDE1 (R1440Q +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 201074	NM_002474.3(MYH11):c.4303G>A (p.Asp1435Asn)	MYH11, NDE1 (D1435N +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 639271	NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu)	MYH11, NDE1 (S1376L +1 more)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 2 +4 more	GUncertain significance
Select item 1320883	NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe)	MYH11, NDE1 (I1366F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1219769	NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys)	MYH11, NDE1 (R1364C +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 918397	NM_002474.3(MYH11):c.3892G>A (p.Glu1298Lys)	MYH11, NDE1 (E1305K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 432674	NM_002474.3(MYH11):c.3853C>G (p.Leu1285Val)	MYH11 (L1285V +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 451852	NM_002474.3(MYH11):c.3844G>A (p.Val1282Ile)	MYH11 (V1282I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 919455	NM_002474.3(MYH11):c.3818G>A (p.Arg1273Gln)	MYH11 (R1280Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 429646	NM_002474.3(MYH11):c.3817C>T (p.Arg1273Trp)	MYH11 (R1273W +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 811383	NM_002474.3(MYH11):c.3808G>A (p.Asp1270Asn)	MYH11 (D1270N +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 1041625	NM_002474.3(MYH11):c.3724G>A (p.Val1242Ile)	MYH11 (V1242I +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 534151	NM_002474.3(MYH11):c.3721C>T (p.Arg1241Trp)	MYH11 (R1248W +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 534142	NM_002474.3(MYH11):c.3712G>A (p.Gly1238Arg)	MYH11 (G1245R +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 888295	NM_002474.3(MYH11):c.3669C>A (p.Asp1223Glu)	MYH11 (D1223E +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 928047	NM_002474.3(MYH11):c.3593G>A (p.Arg1198Lys)	MYH11 (R1205K +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 465724	NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val)	MYH11 (L1134V +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 808004	NM_002474.3(MYH11):c.3322A>G (p.Asn1108Asp)	MYH11 (N1108D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 201060	NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val)	MYH11 (A1094V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 922638	NM_002474.3(MYH11):c.3280G>A (p.Ala1094Thr)	MYH11 (A1094T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 36618	NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr)	MYH11 (I1085T +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 534145	NM_002474.3(MYH11):c.3227C>T (p.Ala1076Val)	MYH11 (A1083V +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 405464	NM_002474.3(MYH11):c.3198C>G (p.Asp1066Glu)	MYH11 (D1073E +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 201059	NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln)	MYH11 (R1042Q +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 839021	NM_002474.3(MYH11):c.3020G>A (p.Arg1007Lys)	MYH11 (R1007K +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 547542	NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val)	MYH11 (L1004V +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +5 more	GUncertain significance
Select item 547541	NM_002474.3(MYH11):c.2924C>T (p.Thr975Met)	MYH11 (T975M +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GUncertain significance
Select item 1315758	NM_002474.3(MYH11):c.2914G>C (p.Glu972Gln)	MYH11 (E972Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1677521	NM_002474.3(MYH11):c.2888A>G (p.Glu963Gly)	MYH11 (E963G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 836595	NM_002474.3(MYH11):c.2863C>G (p.Leu955Val)	MYH11 (L955V +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 534149	NM_002474.3(MYH11):c.2789G>A (p.Arg930His)	MYH11 (R937H +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 839295	NM_002474.3(MYH11):c.2785G>T (p.Ala929Ser)	MYH11 (A929S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 201057	NM_002474.3(MYH11):c.2741C>T (p.Ala914Val)	MYH11 (A914V +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 664989	NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys)	MYH11 (E887K +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +5 more	GUncertain significance
Select item 838076	NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn)	MYH11 (D866N +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 372955	NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn)	MYH11 (S766N +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +5 more	GUncertain significance
Select item 1036889	NM_002474.3(MYH11):c.2277C>G (p.Asn759Lys)	MYH11 (N759K +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 924899	NM_002474.3(MYH11):c.2197G>A (p.Ala733Thr)	MYH11 (A733T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 924930	NM_002474.3(MYH11):c.2195C>A (p.Ala732Glu)	MYH11 (A739E +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1332617	NM_002474.3(MYH11):c.2158G>A (p.Val720Ile)	MYH11 (V720I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 979135	NM_002474.3(MYH11):c.2152C>T (p.Arg718Trp)	MYH11 (R718W +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 492838	NM_002474.3(MYH11):c.2139G>C (p.Gln713His)	MYH11 (Q720H +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 14135	NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln)	MYH11 (R712Q +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GPathogenic/Likely pathogenic
Select item 451726	NM_002474.3(MYH11):c.2099G>A (p.Arg700Gln)	MYH11 (R700Q +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 1329442	NM_002474.3(MYH11):c.2082G>A (p.Leu694=)	MYH11	Single nucleotide variant (synonymous variant)	Visceral myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 568525	NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser)	MYH11 (G695S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +5 more	GUncertain significance
Select item 920067	NM_002474.3(MYH11):c.1993A>G (p.Met665Val)	MYH11 (M665V +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 1499306	NM_002474.3(MYH11):c.1951C>T (p.Arg651Cys)	MYH11 (R658C +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 1534525	NM_002474.3(MYH11):c.1908G>A (p.Glu636=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4 +3 more	GLikely benign
Select item 263833	NM_002474.3(MYH11):c.1749+4C>G	MYH11	Single nucleotide variant (intron variant)	not specified +5 more	GUncertain significance
Select item 201050	NM_002474.3(MYH11):c.1575+8del	MYH11	Deletion (intron variant)	Aortic aneurysm, familial thoracic 4 +4 more	GBenign/Likely benign
Select item 920312	NM_002474.3(MYH11):c.1402-8G>C	MYH11	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 519940	NM_002474.3(MYH11):c.1317C>T (p.Arg439=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 465706	NM_002474.3(MYH11):c.1282A>G (p.Thr428Ala)	MYH11 (T435A +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 263969	NM_002474.3(MYH11):c.1220T>C (p.Val407Ala)	MYH11 (V407A +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 201107	NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr)	MYH11 (I401T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GUncertain significance
Select item 927502	NM_002474.3(MYH11):c.1121A>G (p.Asp374Gly)	MYH11 (D381G +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 921279	NM_002474.3(MYH11):c.1047G>A (p.Val349=)	MYH11	Single nucleotide variant (synonymous variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +3 more	GLikely benign
Select item 566653	NM_002474.3(MYH11):c.935A>G (p.Asn312Ser)	MYH11 (N319S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance

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