C2750466[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 1016822	NM_002471.4(MYH6):c.5797-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1EE +4 more	GUncertain significance
Select item 566642	NM_002471.4(MYH6):c.5794A>T (p.Lys1932Ter)	MYH6 (K1932*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 180428	NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu)	MYH6 (R1927L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 179021	NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val)	MYH6 (A1912V)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 392233	NM_002471.4(MYH6):c.5696G>A (p.Arg1899His)	MYH6 (R1899H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 647390	NM_002471.4(MYH6):c.5695C>T (p.Arg1899Cys)	MYH6 (R1899C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +5 more	GUncertain significance
Select item 263719	NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val)	MYH6 (F1898V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 414327	NM_002471.4(MYH6):c.5661+9A>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +5 more	GLikely benign
Select item 520363	NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val)	MYH6 (A1887V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +8 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 582103	NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg)	MYH6 (K1876R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 520531	NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln)	MYH6 (R1865Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 684811	NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp)	MYH6 (R1865W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 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 264189	NM_002471.4(MYH6):c.5540G>A (p.Arg1847Gln)	MYH6 (R1847Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 264214	NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)	MYH6 (K1840R)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 470547	NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu)	MYH6 (S1838L)	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 196975	NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys)	MYH6 (E1831K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1053161	NM_002471.4(MYH6):c.5481G>C (p.Glu1827Asp)	MYH6 (E1827D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 44537	NM_002471.4(MYH6):c.5475G>A (p.Glu1825=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +8 more	GBenign
Select item 1038078	NM_002471.4(MYH6):c.5459G>A (p.Arg1820Gln)	MYH6 (R1820Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GUncertain significance
Select item 228897	NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp)	MYH6 (R1820W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +8 more	GUncertain significance
Select item 1496424	NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp)	MYH6 (R1798W)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 312845	NM_002471.4(MYH6):c.5367G>A (p.Glu1789=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 1046641	NM_002471.4(MYH6):c.5341C>A (p.Leu1781Met)	MYH6 (L1781M)	Single nucleotide variant (missense variant)	Sick sinus syndrome 3, susceptibility to +4 more	GUncertain significance
Select item 520372	NM_002471.4(MYH6):c.5297T>C (p.Met1766Thr)	MYH6 (M1766T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 44533	NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)	MYH6 (A1765T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 807073	NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr)	MYH6 (A1760T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +7 more	GUncertain significance
Select item 239178	NM_002471.4(MYH6):c.5140C>A (p.Arg1714=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +6 more	GBenign/Likely benign
Select item 191709	NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile)	LOC126861896, MYH6 (S1712I)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 537951	NM_002471.4(MYH6):c.5102G>A (p.Arg1701Gln)	LOC126861896, MYH6 (R1701Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 373555	NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)	LOC126861896, MYH6 (V1693M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +7 more	GConflicting classifications of pathogenicity
Select item 178868	NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)	LOC126861896, MYH6 (R1691H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +8 more	GUncertain significance
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 1398688	NM_002471.4(MYH6):c.5002G>C (p.Asp1668His)	LOC126861896, MYH6 (D1668H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 407143	NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)	LOC126861896, MYH6 (R1664H)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 179576	NM_002471.4(MYH6):c.4960-9G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Atrial septal defect 3 +7 more	GBenign
Select item 222717	NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys)	LOC126861896, MYH6 (E1640K)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 849171	NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser)	LOC126861896, MYH6 (N1625S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 470545	NM_002471.4(MYH6):c.4833C>T (p.Asn1611=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 312849	NM_002471.4(MYH6):c.4829G>A (p.Arg1610His)	LOC126861896, MYH6 (R1610H)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 228895	NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys)	MYH6, LOC126861896 (R1610C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +8 more	GUncertain significance
Select item 373551	NM_002471.4(MYH6):c.4823G>A (p.Arg1608His)	LOC126861896, MYH6 (R1608H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 191710	NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys)	MYH6, LOC126861896 (R1608C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 518175	NM_002471.4(MYH6):c.4812T>C (p.Asp1604=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 1393906	NM_002471.4(MYH6):c.4793C>T (p.Ser1598Leu)	LOC126861896, MYH6 (S1598L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 44519	NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser)	LOC126861896, MYH6 (N1591S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 520529	NM_002471.4(MYH6):c.4768C>A (p.Arg1590Ser)	MYH6, LOC126861896 (R1590S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 44518	NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys)	LOC126861896, MYH6 (E1583K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 180427	NM_002471.4(MYH6):c.4713G>T (p.Lys1571Asn)	LOC126861896, MYH6 (K1571N)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +4 more	GUncertain significance
Select item 870081	NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu)	LOC126861896, MYH6 (R1562L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1556905	NM_002471.4(MYH6):c.4651-14C>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Atrial septal defect 3 +4 more	GLikely benign
Select item 577110	NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met)	MYH6 (L1542M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 44516	NM_002471.4(MYH6):c.4536G>A (p.Ser1512=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +7 more	GBenign/Likely benign
Select item 1121627	NM_002471.4(MYH6):c.4526-9G>C	MYH6	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1038731	NM_002471.4(MYH6):c.4525+3G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +4 more	GUncertain significance
Select item 44513	NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)	MYH6 (R1502Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 520364	NM_002471.4(MYH6):c.4504C>A (p.Arg1502=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +5 more	GLikely benign
Select item 978731	NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys)	MYH6 (E1491K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 537959	NM_002471.4(MYH6):c.4438A>G (p.Ser1480Gly)	MYH6 (S1480G)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +5 more	GUncertain significance
Select item 191711	NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys)	MYH6 (R1477C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1315359	NM_002471.4(MYH6):c.4396C>G (p.Gln1466Glu)	MYH6 (Q1466E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 470540	NM_002471.4(MYH6):c.4395_4396delinsAG (p.Gln1466Glu)	MYH6 (Q1466E)	Indel (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 423354	NM_002471.4(MYH6):c.4394C>T (p.Ser1465Leu)	MYH6 (S1465L)	Single nucleotide variant (missense variant)	Sick sinus syndrome 3, susceptibility to +5 more	GUncertain significance
Select item 14152	NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys)	MYH6 (E1457K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 44511	NM_002471.4(MYH6):c.4360-7C>T	MYH6	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 850909	NM_002471.4(MYH6):c.4349A>C (p.Asn1450Thr)	MYH6 (N1450T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 164221	NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)	MYH6 (A1443D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 970413	NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro)	MYH6 (A1440P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 178068	NM_002471.4(MYH6):c.4307G>A (p.Arg1436His)	MYH6 (R1436H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 44508	NM_002471.4(MYH6):c.4300G>A (p.Val1434Ile)	MYH6 (V1434I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 44506	NM_002471.4(MYH6):c.4206C>T (p.Ala1402=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +8 more	GBenign
Select item 662744	NM_002471.4(MYH6):c.4192C>T (p.Arg1398Trp)	MYH6 (R1398W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 1344970	NM_002471.4(MYH6):c.4151G>A (p.Arg1384Gln)	MYH6 (R1384Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 664920	NM_002471.4(MYH6):c.4084G>A (p.Val1362Ile)	MYH6 (V1362I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +5 more	GUncertain significance
Select item 179607	NM_002471.4(MYH6):c.4082G>A (p.Arg1361His)	MYH6 (R1361H)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +7 more	GUncertain significance
Select item 239172	NM_002471.4(MYH6):c.4016G>A (p.Arg1339Gln)	MYH6 (R1339Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 414316	NM_002471.4(MYH6):c.3979-3dup	MYH6	Duplication (intron variant)	Hypertrophic cardiomyopathy 14 +7 more	GBenign/Likely benign
Select item 407147	NM_002471.4(MYH6):c.3979-7_3979-4del	MYH6	Deletion (intron variant)	Atrial septal defect 3 +5 more	GLikely benign
Select item 164228	NM_002471.4(MYH6):c.3979-9_3979-7delinsGC	MYH6	Indel (intron variant)	not provided +5 more	GUncertain significance
Select item 196173	NM_002471.4(MYH6):c.3979-8C>T	MYH6	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1EE +7 more	GBenign/Likely benign
Select item 422762	NM_002471.4(MYH6):c.3979-11_3979-9delinsG	MYH6	Indel (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 537963	NM_002471.4(MYH6):c.3923T>G (p.Leu1308Arg)	MYH6 (L1308R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 44493	NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiomyopathy +8 more	GBenign/Likely benign
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 180424	NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val)	MYH6 (A1298V)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1174973	NM_002471.4(MYH6):c.3871C>T (p.Arg1291Trp)	MYH6 (R1291W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GUncertain significance
Select item 470532	NM_002471.4(MYH6):c.3838G>A (p.Ala1280Thr)	MYH6 (A1280T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 407140	NM_002471.4(MYH6):c.3808C>T (p.Arg1270Cys)	MYH6 (R1270C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 470530	NM_002471.4(MYH6):c.3785G>A (p.Arg1262His)	MYH6 (R1262H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +7 more	GUncertain significance
Select item 164229	NM_002471.4(MYH6):c.3758C>T (p.Thr1253Met)	MYH6 (T1253M)	Single nucleotide variant (missense variant)	MYH6-related disorder +8 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 391412	NM_002471.4(MYH6):c.3732+13C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +5 more	GLikely benign
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 44488	NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys)	MYH6 (E1207K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 565499	NM_002471.4(MYH6):c.3618C>T (p.Gly1206=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 264374	NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp)	MYH6 (E1204D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 312860	NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)	MYH6 (V1202M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity

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