"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284386	NM_002471.4(MYH6):c.5694C>A (p.Phe1898Leu)	MYH6 (F1898L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 537945	NM_002471.4(MYH6):c.5694C>G (p.Phe1898Leu)	MYH6 (F1898L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 578698	NM_002471.4(MYH6):c.5661G>A (p.Ala1887=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 312839	NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)	MYH6	Single nucleotide variant (synonymous variant)	MYH6-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 258715	NM_002471.4(MYH6):c.5598A>G (p.Leu1866=)	MYH6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 44536	NM_002471.4(MYH6):c.5439G>A (p.Gln1813=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1174748	NM_002471.4(MYH6):c.5437C>G (p.Gln1813Glu)	MYH6 (Q1813E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 807071	NM_002471.4(MYH6):c.5427A>C (p.Gly1809=)	MYH6	Single nucleotide variant (synonymous variant)	MYH6-related disorder +2 more	GLikely benign
Select item 1285120	NM_002471.4(MYH6):c.5407G>C (p.Glu1803Gln)	MYH6 (E1803Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 44535	NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +3 more	GConflicting classifications of pathogenicity
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 698130	NM_002471.4(MYH6):c.5292C>T (p.Ala1764=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 44532	NM_002471.4(MYH6):c.5259C>T (p.Ala1753=)	MYH6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1174659	NM_002471.4(MYH6):c.5129A>T (p.Glu1710Val)	LOC126861896, MYH6 (E1710V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227592	NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 44528	NM_002471.4(MYH6):c.4980C>T (p.Asp1660=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
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 36632	NM_002471.4(MYH6):c.4960-17A>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 36631	NM_002471.4(MYH6):c.4959+13G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 44526	NM_002471.4(MYH6):c.4914T>C (p.Ala1638=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 44525	NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys)	LOC126861896, MYH6 (R1636C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 178065	NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 44524	NM_002471.4(MYH6):c.4899C>T (p.His1633=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 470545	NM_002471.4(MYH6):c.4833C>T (p.Asn1611=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +7 more	GLikely benign
Select item 44521	NM_002471.4(MYH6):c.4782G>A (p.Arg1594=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 44519	NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser)	LOC126861896, MYH6 (N1591S)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 1284976	NM_002471.4(MYH6):c.4651-7T>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 36630	NM_002471.4(MYH6):c.4651-12A>C	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 258711	NM_002471.4(MYH6):c.4651-17G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 44515	NM_002471.4(MYH6):c.4527G>A (p.Glu1509=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 44512	NM_002471.4(MYH6):c.4395G>A (p.Ser1465=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign
Select item 767145	NM_002471.4(MYH6):c.4368C>T (p.Ala1456=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 44511	NM_002471.4(MYH6):c.4360-7C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +7 more	GBenign/Likely benign
Select item 44510	NM_002471.4(MYH6):c.4359+13C>T	MYH6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1284876	NM_002471.4(MYH6):c.4330C>T (p.Leu1444=)	MYH6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 44509	NM_002471.4(MYH6):c.4320T>A (p.Ala1440=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 470538	NM_002471.4(MYH6):c.4299C>T (p.Asp1433=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 44506	NM_002471.4(MYH6):c.4206C>T (p.Ala1402=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +8 more	GBenign
Select item 191712	NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)	MYH6 (R1398Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GConflicting classifications of pathogenicity
Select item 227589	NM_002471.4(MYH6):c.4137G>A (p.Thr1379=)	MYH6	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 180425	NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)	MYH6 (T1379M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 263527	NM_002471.4(MYH6):c.4026C>T (p.Cys1342=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 44501	NM_002471.4(MYH6):c.4011G>A (p.Ser1337=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 179575	NM_002471.4(MYH6):c.3979-8dup	MYH6	Duplication (intron variant)	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 164228	NM_002471.4(MYH6):c.3979-9_3979-7delinsGC	MYH6	Indel (intron variant)	not provided +5 more	GUncertain significance
Select item 164227	NM_002471.4(MYH6):c.3979-8_3979-7delinsGC	MYH6	Indel (intron variant)	Hypertrophic cardiomyopathy 14 +3 more	GConflicting classifications of pathogenicity
Select item 1285119	NM_002471.3(MYH6):c.3979-8C>A	MYH6	Single nucleotide variant	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 414321	NM_002471.4(MYH6):c.3979-8C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GBenign
Select item 220788	NM_002471.4(MYH6):c.3979-9_3979-8del	MYH6	Deletion (intron variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign
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 312856	NM_002471.4(MYH6):c.3979-10C>A	MYH6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1284402	NM_002471.4(MYH6):c.3979-11C>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 312857	NM_002471.4(MYH6):c.3979-11C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign
Select item 977733	NM_002471.4(MYH6):c.3979-15C>A	MYH6	Single nucleotide variant (intron variant)	MYH6-related disorder +3 more	GBenign/Likely benign
Select item 44494	NM_002471.4(MYH6):c.3927T>C (p.Ser1309=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 44493	NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +8 more	GBenign/Likely benign
Select item 44492	NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln)	MYH6 (E1295Q)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
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 44491	NM_002471.4(MYH6):c.3860-15T>G	MYH6	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 391412	NM_002471.4(MYH6):c.3732+13C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +5 more	GLikely benign
Select item 265832	NM_002471.4(MYH6):c.3607dup (p.Ala1203fs)	MYH6 (A1203fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 14 +1 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
Select item 407151	NM_002471.4(MYH6):c.3598G>C (p.Asp1200His)	MYH6 (D1200H)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 180116	NM_002471.4(MYH6):c.3573C>T (p.Ala1191=)	MYH6	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 44486	NM_002471.4(MYH6):c.3480C>T (p.Ser1160=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 44484	NM_002471.4(MYH6):c.3408G>A (p.Lys1136=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +7 more	GBenign
Select item 180016	NM_002471.4(MYH6):c.3393G>A (p.Arg1131=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +6 more	GLikely benign
Select item 44483	NM_002471.4(MYH6):c.3388G>A (p.Ala1130Thr)	MYH6 (A1130T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 44482	NM_002471.4(MYH6):c.3383G>A (p.Arg1128His)	MYH6 (R1128H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +10 more	GUncertain significance
Select item 1328497	NM_002471.4(MYH6):c.3352G>A (p.Glu1118Lys)	MYH6 (E1118K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 807077	NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys)	MYH6 (R1116C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 414314	NM_002471.4(MYH6):c.3343-3del	MYH6	Deletion (intron variant)	Hypertrophic cardiomyopathy 14 +4 more	GConflicting classifications of pathogenicity
Select item 44480	NM_002471.4(MYH6):c.3302T>C (p.Val1101Ala)	MYH6 (V1101A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1285156	NM_002471.4(MYH6):c.3252-15A>C	MYH6	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 263779	NM_002471.4(MYH6):c.3177C>T (p.Gly1059=)	MYH6	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44476	NM_002471.4(MYH6):c.3118C>T (p.Leu1040=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 14151	NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)	MYH6 (A1004S)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 44475	NM_002471.4(MYH6):c.2946G>A (p.Glu982=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +8 more	GBenign
Select item 44473	NM_002471.4(MYH6):c.2928+5G>A	MYH6	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 519156	NM_002471.4(MYH6):c.2841C>T (p.Asp947=)	MYH6	Single nucleotide variant (synonymous variant)	MYH6-related disorder +2 more	GLikely benign
Select item 44471	NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser)	MYH6 (A936S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 520328	NM_002471.4(MYH6):c.2768A>C (p.Glu923Ala)	MYH6 (E923A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 414332	NM_002471.4(MYH6):c.2685+10C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +6 more	GLikely benign
Select item 44467	NM_002471.4(MYH6):c.2579G>A (p.Arg860His)	MYH6 (R860H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 191718	NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp)	MYH6 (G859W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 1036251	NM_002471.4(MYH6):c.2366G>A (p.Arg789His)	MYH6 (R789H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 44462	NM_002471.4(MYH6):c.2293-12C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +6 more	GBenign/Likely benign
Select item 258709	NM_002471.4(MYH6):c.2292+18C>T	MYH6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 389970	NM_002471.4(MYH6):c.2168+17C>A	MYH6	Single nucleotide variant (intron variant)	Atrial septal defect 3 +6 more	GBenign/Likely benign
Select item 44461	NM_002471.4(MYH6):c.2151C>T (p.Tyr717=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign
Select item 1285205	NM_002471.4(MYH6):c.2093A>G (p.Asn698Ser)	MYH6 (N698S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 228889	NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys)	MYH6 (R696C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +3 more	GUncertain significance
Select item 164242	NM_002471.4(MYH6):c.2071G>A (p.Val691Ile)	MYH6 (V691I)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 44460	NM_002471.4(MYH6):c.1989C>T (p.Asn663=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +9 more	GBenign/Likely benign
Select item 508649	NM_002471.4(MYH6):c.1935C>T (p.Ser645=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1328031	NM_002471.4(MYH6):c.1887T>C (p.Asp629=)	MYH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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