ClinVar for MedGen (Select 481420) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 260

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366965	NM_002471.4(MYH6):c.5164-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1EE +2 more	GLikely pathogenic
Select item 3362617	NM_002471.4(MYH6):c.646A>G (p.Thr216Ala)	MYH6 (T216A)	Single nucleotide variant (missense variant)	Atrial septal defect 3	GUncertain significance
Select item 3064691	NM_002471.4(MYH6):c.4100A>G (p.Asn1367Ser)	MYH6 (N1367S)	Single nucleotide variant (missense variant)	Atrial septal defect 3	GUncertain significance
Select item 2582542	NM_002471.4(MYH6):c.3946G>A (p.Asp1316Asn)	MYH6 (D1316N)	Single nucleotide variant (missense variant)	MYH6-related cardiac defects +2 more	GUncertain significance
Select item 2580209	NM_002471.4(MYH6):c.1141+2T>C	MYH6	Single nucleotide variant (splice donor variant)	Atrial septal defect 3	GUncertain significance
Select item 2441788	NM_002471.4(MYH6):c.478A>G (p.Asn160Asp)	LOC114827851, MYH6 (N160D)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +2 more	GUncertain significance
Select item 1731689	NM_002471.4(MYH6):c.3466G>A (p.Gly1156Ser)	MYH6 (G1156S)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +1 more	GUncertain significance
Select item 1699416	NM_002471.4(MYH6):c.5555T>C (p.Leu1852Pro)	MYH6 (L1852P)	Single nucleotide variant (missense variant)	Atrial septal defect 3	GUncertain significance
Select item 1699186	NM_002471.4(MYH6):c.2018G>A (p.Arg673His)	MYH6 (R673H)	Single nucleotide variant (missense variant)	Atrial septal defect 3	GUncertain significance
Select item 1677826	NM_002471.4(MYH6):c.2293-2A>C	MYH6	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1EE +5 more	GUncertain significance
Select item 1677799	NM_002471.4(MYH6):c.5662-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1677726	NM_002471.4(MYH6):c.1002+1G>T	MYH6	Single nucleotide variant (splice donor variant)	not provided +5 more	GUncertain significance
Select item 1677592	NM_002471.4(MYH6):c.1961G>A (p.Arg654Gln)	MYH6 (R654Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1677485	NM_002471.4(MYH6):c.325T>C (p.Tyr109His)	LOC114827851, MYH6 (Y109H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1677461	NM_002471.4(MYH6):c.5513_5525del (p.Glu1837_Ser1838insTer)	MYH6	Deletion (nonsense)	not provided +1 more	GUncertain significance
Select item 1674278	NM_002471.4(MYH6):c.2664C>T (p.Asp888=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +5 more	GLikely benign
Select item 1556905	NM_002471.4(MYH6):c.4651-14C>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1EE +4 more	GLikely benign
Select item 1496424	NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp)	MYH6 (R1798W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 1492825	NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu)	MYH6 (Q1092E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1484753	NM_002471.4(MYH6):c.1492G>A (p.Glu498Lys)	MYH6 (E498K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 1447754	NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del)	LOC114827851, MYH6 (K207del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy 14 +5 more	GConflicting classifications of pathogenicity
Select item 1435983	NM_002471.4(MYH6):c.160C>T (p.Arg54Trp)	LOC114827851, MYH6 (R54W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 1432256	NM_002471.4(MYH6):c.409G>A (p.Glu137Lys)	LOC114827851, MYH6 (E137K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 1427970	NM_002471.4(MYH6):c.2044G>T (p.Ala682Ser)	MYH6 (A682S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 1414226	NM_002471.4(MYH6):c.5628G>T (p.Lys1876Asn)	MYH6 (K1876N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 1406531	NM_002471.4(MYH6):c.3289G>A (p.Glu1097Lys)	MYH6 (E1097K)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +1 more	GUncertain significance
Select item 1398688	NM_002471.4(MYH6):c.5002G>C (p.Asp1668His)	LOC126861896, MYH6 (D1668H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 1395791	NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile)	MYH6 (V1233I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 1393906	NM_002471.4(MYH6):c.4793C>T (p.Ser1598Leu)	LOC126861896, MYH6 (S1598L)	Single nucleotide variant (missense variant)	Sick sinus syndrome 3, susceptibility to +4 more	GUncertain significance
Select item 1384882	NM_002471.4(MYH6):c.201G>C (p.Lys67Asn)	LOC114827851, MYH6 (K67N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 1375040	NM_002471.4(MYH6):c.3562G>A (p.Glu1188Lys)	MYH6 (E1188K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GUncertain significance
Select item 1371522	NM_002471.4(MYH6):c.244C>T (p.Pro82Ser)	LOC114827851, MYH6 (P82S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1344970	NM_002471.4(MYH6):c.4151G>A (p.Arg1384Gln)	MYH6 (R1384Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 1315359	NM_002471.4(MYH6):c.4396C>G (p.Gln1466Glu)	MYH6 (Q1466E)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1314760	NM_002471.4(MYH6):c.1639A>G (p.Met547Val)	MYH6 (M547V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 1312704	NM_002471.4(MYH6):c.2051-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 1308556	NM_002471.4(MYH6):c.3755G>A (p.Arg1252Gln)	MYH6 (R1252Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 1285166	NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu)	MYH6 (Q367L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GUncertain significance
Select item 1284635	NM_002471.4(MYH6):c.2717G>A (p.Arg906His)	MYH6 (R906H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +7 more	GConflicting classifications of pathogenicity
Select item 1284285	NM_002471.4(MYH6):c.779C>T (p.Ala260Val)	MYH6 (A260V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1284281	NM_002471.4(MYH6):c.2951T>C (p.Met984Thr)	MYH6 (M984T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 1218642	NM_002471.4(MYH6):c.5587C>T (p.Leu1863=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +6 more	GLikely benign
Select item 1200462	NM_002471.4(MYH6):c.2684C>T (p.Ala895Val)	MYH6 (A895V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 1175107	NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp)	MYH6 (R1143W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 1174973	NM_002471.4(MYH6):c.3871C>T (p.Arg1291Trp)	MYH6 (R1291W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 1174846	NM_002471.4(MYH6):c.704A>G (p.Lys235Arg)	MYH6 (K235R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GUncertain significance
Select item 1172787	NM_002471.4(MYH6):c.4496C>A (p.Thr1499Asn)	MYH6 (T1499N)	Single nucleotide variant (missense variant)	Atrial septal defect 3	GUncertain significance
Select item 1155261	NM_002471.4(MYH6):c.3189G>C (p.Leu1063=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 1121627	NM_002471.4(MYH6):c.4526-9G>C	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +5 more	GLikely benign
Select item 1061460	NM_002471.4(MYH6):c.2533G>A (p.Ala845Thr)	MYH6 (A845T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1053161	NM_002471.4(MYH6):c.5481G>C (p.Glu1827Asp)	MYH6 (E1827D)	Single nucleotide variant (missense variant)	Sick sinus syndrome 3, susceptibility to +4 more	GUncertain significance
Select item 1049504	NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr)	MYH6 (A348T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 1046641	NM_002471.4(MYH6):c.5341C>A (p.Leu1781Met)	MYH6 (L1781M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 1038731	NM_002471.4(MYH6):c.4525+3G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 1038078	NM_002471.4(MYH6):c.5459G>A (p.Arg1820Gln)	MYH6 (R1820Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 1035818	NM_002471.4(MYH6):c.2051-1G>A	MYH6	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1032063	NM_002471.4(MYH6):c.5452G>C (p.Glu1818Gln)	MYH6 (E1818Q)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +1 more	GUncertain significance
Select item 1032062	NM_002471.4(MYH6):c.493A>T (p.Met165Leu)	LOC114827851, MYH6 (M165L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 1032061	NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp)	MYH6 (E526D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1032059	NM_002471.4(MYH6):c.1411-12T>C	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GConflicting classifications of pathogenicity
Select item 1026007	NM_002471.4(MYH6):c.5071C>T (p.Arg1691Cys)	LOC126861896, MYH6 (R1691C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 1024279	NM_002471.4(MYH6):c.1088T>C (p.Met363Thr)	MYH6 (M363T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1023317	NM_002471.4(MYH6):c.268A>G (p.Met90Val)	LOC114827851, MYH6 (M90V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 1023294	NM_002471.4(MYH6):c.1523A>T (p.Glu508Val)	MYH6 (E508V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +4 more	GUncertain significance
Select item 1016822	NM_002471.4(MYH6):c.5797-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 1015964	NM_002471.4(MYH6):c.3287T>C (p.Ile1096Thr)	MYH6 (I1096T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 978731	NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys)	MYH6 (E1491K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +6 more	GUncertain significance
Select item 977732	NM_002471.4(MYH6):c.2169-8C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 971126	NM_002471.4(MYH6):c.2399G>A (p.Arg800His)	MYH6 (R800H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 970413	NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro)	MYH6 (A1440P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 967486	NM_002471.4(MYH6):c.2605G>A (p.Glu869Lys)	MYH6 (E869K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 959679	NM_002471.4(MYH6):c.427C>T (p.Arg143Trp)	LOC114827851, MYH6 (R143W)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 958487	NM_002471.4(MYH6):c.1138G>A (p.Glu380Lys)	MYH6 (E380K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 942862	NM_002471.4(MYH6):c.569G>A (p.Arg190His)	LOC114827851, MYH6 (R190H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 941989	NM_002471.4(MYH6):c.4750G>A (p.Glu1584Lys)	LOC126861896, MYH6 (E1584K)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +3 more	GUncertain significance
Select item 941025	NM_002471.4(MYH6):c.1791A>T (p.Lys597Asn)	MYH6 (K597N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 933695	NM_002471.4(MYH6):c.190G>A (p.Glu64Lys)	LOC114827851, MYH6 (E64K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 929191	NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser)	MYH6 (T995S)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 917551	NM_002471.4(MYH6):c.71T>C (p.Leu24Pro)	LOC114827851, MYH6 (L24P)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 870081	NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu)	LOC126861896, MYH6 (R1562L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 860657	NM_002471.4(MYH6):c.3447C>T (p.Ser1149=)	MYH6	Single nucleotide variant (synonymous variant)	Atrial septal defect 3 +5 more	GConflicting classifications of pathogenicity
Select item 859305	NM_002471.4(MYH6):c.203C>T (p.Thr68Met)	LOC114827851, MYH6 (T68M)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +6 more	GUncertain significance
Select item 855033	NM_002471.4(MYH6):c.730C>T (p.Arg244Cys)	MYH6 (R244C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 853879	NM_002471.4(MYH6):c.3578C>T (p.Ala1193Val)	MYH6 (A1193V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 850909	NM_002471.4(MYH6):c.4349A>C (p.Asn1450Thr)	MYH6 (N1450T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 849171	NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser)	LOC126861896, MYH6 (N1625S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 848866	NM_002471.4(MYH6):c.5501G>A (p.Arg1834His)	MYH6 (R1834H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 847022	NM_002471.4(MYH6):c.1325C>T (p.Thr442Met)	MYH6 (T442M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 845371	NM_002471.4(MYH6):c.940G>A (p.Val314Met)	MYH6 (V314M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 836874	NM_002471.4(MYH6):c.1185C>A (p.Asp395Glu)	MYH6 (D395E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 835603	NM_002471.4(MYH6):c.3316C>A (p.Leu1106Ile)	MYH6 (L1106I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 807077	NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys)	MYH6 (R1116C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 807075	NM_002471.4(MYH6):c.3902C>T (p.Ser1301Leu)	MYH6 (S1301L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GUncertain significance
Select item 807073	NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr)	MYH6 (A1760T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 692236	NM_002471.4(MYH6):c.2878G>A (p.Glu960Lys)	MYH6 (E960K)	Single nucleotide variant (missense variant)	Atrial septal defect 3	GUncertain significance
Select item 691732	NM_002471.4(MYH6):c.3979-2A>C	MYH6	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 14 +3 more	GConflicting classifications of pathogenicity
Select item 684811	NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp)	MYH6 (R1865W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 666044	NM_002471.4(MYH6):c.1793dup (p.Asn598fs)	MYH6 (N598fs)	Duplication (frameshift variant)	Sick sinus syndrome 3, susceptibility to +4 more	GUncertain significance
Select item 664920	NM_002471.4(MYH6):c.4084G>A (p.Val1362Ile)	MYH6 (V1362I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 664024	NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr)	MYH6 (I753T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance

<< First< Prev

Page of 3