ClinVar for Gene (Select 4624) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3362220	NM_002471.4(MYH6):c.188C>G (p.Thr63Ser)	MYH6 (T63S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361173	NM_002471.4(MYH6):c.3278A>T (p.Asn1093Ile)	MYH6 (N1093I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360825	NM_002471.4(MYH6):c.298G>T (p.Ala100Ser)	MYH6 (A100S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360206	NM_002471.4(MYH6):c.1862T>A (p.Leu621His)	MYH6 (L621H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347211	NM_002471.4(MYH6):c.4537G>C (p.Asp1513His)	MYH6 (D1513H)	Single nucleotide variant (missense variant)	MYH6-related disorder	GUncertain significance
Select item 3346244	NM_002471.4(MYH6):c.1162C>T (p.Leu388Phe)	MYH6 (L388F)	Single nucleotide variant (missense variant)	MYH6-related disorder	GUncertain significance
Select item 3345552	NM_002471.4(MYH6):c.5341C>G (p.Leu1781Val)	MYH6 (L1781V)	Single nucleotide variant (missense variant)	MYH6-related disorder	GUncertain significance
Select item 3345545	NM_002471.4(MYH6):c.5077G>T (p.Val1693Leu)	LOC126861896, MYH6 (V1693L)	Single nucleotide variant (missense variant)	MYH6-related disorder	GUncertain significance
Select item 3345166	NM_002471.4(MYH6):c.3494T>C (p.Met1165Thr)	MYH6 (M1165T)	Single nucleotide variant (missense variant)	MYH6-related disorder	GUncertain significance
Select item 3344313	NM_002471.4(MYH6):c.1152G>T (p.Lys384Asn)	MYH6 (K384N)	Single nucleotide variant (missense variant)	MYH6-related disorder	GUncertain significance
Select item 3343590	NM_002471.4(MYH6):c.4165G>C (p.Glu1389Gln)	MYH6 (E1389Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343323	NM_002471.4(MYH6):c.3551C>G (p.Thr1184Arg)	MYH6 (T1184R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342842	NM_002471.4(MYH6):c.4385A>G (p.Tyr1462Cys)	MYH6 (Y1462C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342299	NM_002471.4(MYH6):c.1463A>G (p.Gln488Arg)	MYH6 (Q488R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3342285	NM_002471.4(MYH6):c.5645G>T (p.Arg1882Leu)	MYH6 (R1882L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3341388	NM_002471.4(MYH6):c.2334G>C (p.Met778Ile)	MYH6 (M778I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3339994	NM_002471.4(MYH6):c.3979-9_3979-8delinsG	MYH6	Indel (intron variant)	not specified	GLikely benign
Select item 3338807	NM_002471.4(MYH6):c.688G>C (p.Ala230Pro)	MYH6 (A230P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338386	NM_002471.4(MYH6):c.2483A>G (p.Asn828Ser)	MYH6 (N828S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE	GUncertain significance
Select item 3337357	NM_002471.4(MYH6):c.1361G>T (p.Arg454Leu)	MYH6 (R454L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337356	NM_002471.4(MYH6):c.3848A>G (p.Gln1283Arg)	MYH6 (Q1283R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337355	NM_002471.4(MYH6):c.4280T>C (p.Ile1427Thr)	MYH6 (I1427T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337354	NM_002471.4(MYH6):c.4564G>A (p.Gly1522Arg)	MYH6 (G1522R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336913	NM_002471.4(MYH6):c.431G>T (p.Gly144Val)	MYH6, LOC114827851 (G144V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297507	NM_002471.4(MYH6):c.3561C>G (p.His1187Gln)	MYH6 (H1187Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297505	NM_002471.4(MYH6):c.2561T>C (p.Met854Thr)	MYH6 (M854T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297504	NM_002471.4(MYH6):c.3972G>C (p.Glu1324Asp)	MYH6 (E1324D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297503	NM_002471.4(MYH6):c.5506G>A (p.Ala1836Thr)	MYH6 (A1836T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297501	NM_002471.4(MYH6):c.4768C>G (p.Arg1590Gly)	LOC126861896, MYH6 (R1590G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297500	NM_002471.4(MYH6):c.2774A>G (p.Asn925Ser)	MYH6 (N925S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297499	NM_002471.4(MYH6):c.1787A>G (p.Glu596Gly)	MYH6 (E596G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297498	NM_002471.4(MYH6):c.3219T>G (p.Asn1073Lys)	MYH6 (N1073K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297495	NM_002471.4(MYH6):c.3405G>A (p.Glu1135=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3297494	NM_002471.4(MYH6):c.4725G>A (p.Glu1575=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3297493	NM_002471.4(MYH6):c.4303G>A (p.Glu1435Lys)	MYH6 (E1435K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297492	NM_002471.4(MYH6):c.2716C>G (p.Arg906Gly)	MYH6 (R906G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297491	NM_002471.4(MYH6):c.4175A>C (p.Lys1392Thr)	MYH6 (K1392T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297489	NM_002471.4(MYH6):c.4184T>C (p.Leu1395Pro)	MYH6 (L1395P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297488	NM_002471.4(MYH6):c.3598G>T (p.Asp1200Tyr)	MYH6 (D1200Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297487	NM_002471.4(MYH6):c.1350C>T (p.Thr450=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3297486	NM_002471.4(MYH6):c.4057A>T (p.Thr1353Ser)	MYH6 (T1353S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297485	NM_002471.4(MYH6):c.5326G>A (p.Asp1776Asn)	MYH6 (D1776N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297484	NM_002471.4(MYH6):c.5716G>T (p.Asp1906Tyr)	MYH6 (D1906Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297482	NM_002471.4(MYH6):c.5308G>A (p.Glu1770Lys)	MYH6 (E1770K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297481	NM_002471.4(MYH6):c.613G>A (p.Gly205Ser)	LOC114827851, MYH6 (G205S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297480	NM_002471.4(MYH6):c.5124G>A (p.Leu1708=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3297479	NM_002471.4(MYH6):c.5473G>A (p.Glu1825Lys)	MYH6 (E1825K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297478	NM_002471.4(MYH6):c.3204C>T (p.Ile1068=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3297477	NM_002471.4(MYH6):c.5175C>T (p.Leu1725=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3297476	NM_002471.4(MYH6):c.1757C>T (p.Thr586Ile)	MYH6 (T586I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297475	NM_002471.4(MYH6):c.301G>A (p.Val101Met)	LOC114827851, MYH6 (V101M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297474	NM_002471.4(MYH6):c.3428G>T (p.Arg1143Leu)	MYH6 (R1143L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297472	NM_002471.4(MYH6):c.4728G>C (p.Arg1576=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3297471	NM_002471.4(MYH6):c.3351C>T (p.Ile1117=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3297470	NM_002471.4(MYH6):c.4175+5G>A	MYH6	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297468	NM_002471.4(MYH6):c.285C>T (p.Phe95=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3297467	NM_002471.4(MYH6):c.1703G>T (p.Arg568Leu)	MYH6 (R568L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3255544	NM_002471.4(MYH6):c.5566-19C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 3255538	NM_002471.4(MYH6):c.5566-1G>C	MYH6	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 3255532	NM_002471.4(MYH6):c.5569G>C (p.Glu1857Gln)	MYH6 (E1857Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 3252430	NM_002471.4(MYH6):c.3985A>C (p.Asn1329His)	MYH6 (N1329H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252246	NM_002471.4(MYH6):c.1165A>G (p.Met389Val)	MYH6 (M389V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244007	NC_000014.8:g.(?_23855504)_(23876432_?)dup	MIR208A, MYH6	Duplication	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3244006	NC_000014.8:g.(?_23866732)_(23866842_?)del	MYH6	Deletion	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3243937	NC_000014.8:g.(?_23869898)_(23897899_?)dup	MIR208B, MYH6 +1 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3243935	NC_000014.8:g.(?_23855117)_(23902941_?)dup	MIR208A, MIR208B +2 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3243934	NC_000014.8:g.(?_23854105)_(23884499_?)del	MIR208A, MYH6 +1 more	Deletion	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3235703	NM_002471.4(MYH6):c.2839G>A (p.Asp947Asn)	MYH6 (D947N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE	GUncertain significance
Select item 3233496	NM_002471.4(MYH6):c.2161C>A (p.Arg721=)	MYH6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222366	NM_002471.4(MYH6):c.971T>C (p.Ile324Thr)	MYH6 (I324T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222365	NM_002471.4(MYH6):c.961G>A (p.Val321Met)	MYH6 (V321M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222364	NM_002471.4(MYH6):c.937T>G (p.Phe313Val)	MYH6 (F313V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222363	NM_002471.4(MYH6):c.882G>C (p.Lys294Asn)	MYH6 (K294N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222362	NM_002471.4(MYH6):c.87G>A (p.Arg29=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222361	NM_002471.4(MYH6):c.721A>T (p.Asn241Tyr)	MYH6 (N241Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222360	NM_002471.4(MYH6):c.5811T>A (p.Asp1937Glu)	MYH6 (D1937E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222359	NM_002471.4(MYH6):c.5662-5C>T	MYH6	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222358	NM_002471.4(MYH6):c.5628G>A (p.Lys1876=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222357	NM_002471.4(MYH6):c.5622A>G (p.Gln1874=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222356	NM_002471.4(MYH6):c.5565+2T>A	MYH6	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222355	NM_002471.4(MYH6):c.5410C>G (p.Gln1804Glu)	MYH6 (Q1804E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222354	NM_002471.4(MYH6):c.5401G>A (p.Glu1801Lys)	MYH6 (E1801K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222353	NM_002471.4(MYH6):c.5314AAG[1] (p.Lys1773del)	MYH6 (K1773del)	Microsatellite (inframe_indel +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3222352	NM_002471.4(MYH6):c.5214G>A (p.Gln1738=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222351	NM_002471.4(MYH6):c.5148G>C (p.Gln1716His)	LOC126861896, MYH6 (Q1716H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222350	NM_002471.4(MYH6):c.5096G>A (p.Arg1699Gln)	LOC126861896, MYH6 (R1699Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222348	NM_002471.4(MYH6):c.4998C>T (p.Asn1666=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222347	NM_002471.4(MYH6):c.4891C>G (p.Leu1631Val)	LOC126861896, MYH6 (L1631V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222346	NM_002471.4(MYH6):c.47T>G (p.Leu16Arg)	LOC114827851, MYH6 (L16R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222345	NM_002471.4(MYH6):c.4668G>A (p.Glu1556=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222344	NM_002471.4(MYH6):c.4158G>A (p.Glu1386=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222343	NM_002471.4(MYH6):c.4149G>C (p.Gln1383His)	MYH6 (Q1383H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222342	NM_002471.4(MYH6):c.4143C>T (p.Ala1381=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222341	NM_002471.4(MYH6):c.4128G>A (p.Lys1376=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222340	NM_002471.4(MYH6):c.4096G>A (p.Ala1366Thr)	MYH6 (A1366T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222339	NM_002471.4(MYH6):c.4025G>T (p.Cys1342Phe)	MYH6 (C1342F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222338	NM_002471.4(MYH6):c.400T>C (p.Tyr134His)	LOC114827851, MYH6 (Y134H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222337	NM_002471.4(MYH6):c.3860-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222335	NM_002471.4(MYH6):c.3713A>C (p.Glu1238Ala)	MYH6 (E1238A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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