ClinVar for Gene (Select 4624) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 2329

<< First< Prev

Page of 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3222334	NM_002471.4(MYH6):c.3713_3719delinsCCTC (p.Glu1238_Ile1240delinsAlaSer)	MYH6	Indel (inframe_indel)	Cardiovascular phenotype	GUncertain significance
Select item 3222333	NM_002471.4(MYH6):c.3658G>A (p.Glu1220Lys)	MYH6 (E1220K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222332	NM_002471.4(MYH6):c.3461A>G (p.Glu1154Gly)	MYH6 (E1154G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222331	NM_002471.4(MYH6):c.-2A>G	LOC114827851, MYH6	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222330	NM_002471.4(MYH6):c.2533G>T (p.Ala845Ser)	MYH6 (A845S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222329	NM_002471.4(MYH6):c.2335C>A (p.Arg779=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222328	NM_002471.4(MYH6):c.2161del (p.Arg721fs)	MYH6 (R721fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222327	NM_002471.4(MYH6):c.2083C>A (p.Leu695Met)	MYH6 (L695M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222326	NM_002471.4(MYH6):c.204G>T (p.Thr68=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222325	NM_002471.4(MYH6):c.1726G>T (p.Ala576Ser)	MYH6 (A576S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222324	NM_002471.4(MYH6):c.1558G>T (p.Ala520Ser)	MYH6 (A520S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222323	NM_002471.4(MYH6):c.1505A>G (p.Tyr502Cys)	MYH6 (Y502C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222322	NM_002471.4(MYH6):c.142A>C (p.Lys48Gln)	LOC114827851, MYH6 (K48Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222321	NM_002471.4(MYH6):c.134_135del (p.Glu45fs)	LOC114827851, MYH6 (E45fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222320	NM_002471.4(MYH6):c.1173G>A (p.Leu391=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222319	NM_002471.4(MYH6):c.1166T>C (p.Met389Thr)	MYH6 (M389T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222318	NM_002471.4(MYH6):c.1074G>T (p.Met358Ile)	MYH6 (M358I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222317	NM_002471.4(MYH6):c.106G>A (p.Glu36Lys)	LOC114827851, MYH6 (E36K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3158272	NM_002471.4(MYH6):c.5125A>T (p.Ile1709Phe)	LOC126861896, MYH6 (I1709F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3158246	NM_002471.4(MYH6):c.4544C>A (p.Thr1515Asn)	MYH6 (T1515N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3158202	NM_002471.4(MYH6):c.3551C>T (p.Thr1184Met)	MYH6 (T1184M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3158177	NM_002471.4(MYH6):c.3145G>A (p.Asp1049Asn)	MYH6 (D1049N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3158154	NM_002471.4(MYH6):c.2621A>C (p.Glu874Ala)	MYH6 (E874A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3158108	NM_002471.4(MYH6):c.121G>C (p.Asp41His)	LOC114827851, MYH6 (D41H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3158103	NM_002471.4(MYH6):c.1097A>G (p.Lys366Arg)	MYH6 (K366R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3075675	NM_002471.4(MYH6):c.2960T>C (p.Leu987Pro)	MYH6 (L987P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	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 3063345	GRCh37/hg19 14q11.2(chr14:23865369-23883378)x3	MYH6, MYH7	Copy number gain	not specified	GUncertain significance
Select item 3063338	GRCh37/hg19 14q11.2(chr14:23864615-23897171)x3	MIR208B, MYH6 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063317	GRCh37/hg19 14q11.2(chr14:23851719-23906499)x3	MIR208A, MIR208B +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063315	GRCh37/hg19 14q11.2(chr14:23864615-23883050)x1	MYH6, MYH7	Copy number loss	not specified	GUncertain significance
Select item 3054776	NM_002471.4(MYH6):c.4651-22C>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	MYH6-related condition	GLikely benign
Select item 3051095	NM_002471.4(MYH6):c.120C>T (p.Pro40=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	MYH6-related condition	GLikely benign
Select item 3043747	NM_002471.4(MYH6):c.4651-19T>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	MYH6-related condition	GLikely benign
Select item 3030824	NM_002471.4(MYH6):c.43T>A (p.Tyr15Asn)	LOC114827851, MYH6 (Y15N)	Single nucleotide variant (missense variant)	MYH6-related condition	GUncertain significance
Select item 3029258	NM_002471.4(MYH6):c.1003A>G (p.Ser335Gly)	MYH6 (S335G)	Single nucleotide variant (missense variant)	MYH6-related condition	GUncertain significance
Select item 3027062	NM_002471.4(MYH6):c.5648A>T (p.Gln1883Leu)	MYH6 (Q1883L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019694	NM_002471.4(MYH6):c.4455G>T (p.Lys1485Asn)	MYH6 (K1485N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3018734	NM_002471.4(MYH6):c.4094A>G (p.Lys1365Arg)	MYH6 (K1365R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3018176	NM_002471.4(MYH6):c.806del (p.Leu269fs)	MYH6 (L269fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3007196	NM_002471.4(MYH6):c.3078G>T (p.Lys1026Asn)	MYH6 (K1026N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2999235	NM_002471.4(MYH6):c.4359+13C>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2987129	NM_002471.4(MYH6):c.2929-30_2929-19del	MYH6	Deletion (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2986839	NM_002471.4(MYH6):c.4175+18C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2984307	NM_002471.4(MYH6):c.3979-15C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2975231	NM_002471.4(MYH6):c.3009G>C (p.Glu1003Asp)	MYH6 (E1003D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2973255	NM_002471.4(MYH6):c.5343G>A (p.Leu1781=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2970733	NM_002471.4(MYH6):c.327C>T (p.Tyr109=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2969671	NM_002471.4(MYH6):c.5654A>G (p.Glu1885Gly)	MYH6 (E1885G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2963483	NM_002471.4(MYH6):c.373G>C (p.Val125Leu)	LOC114827851, MYH6 (V125L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2954947	NM_002471.4(MYH6):c.2411A>G (p.Lys804Arg)	MYH6 (K804R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2913874	NM_002471.4(MYH6):c.531G>A (p.Thr177=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2911473	NM_002471.4(MYH6):c.644G>T (p.Gly215Val)	MYH6 (G215V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 2910556	NM_002471.4(MYH6):c.502+1G>C	LOC114827851, MYH6	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 2908497	NM_002471.4(MYH6):c.5130G>T (p.Glu1710Asp)	LOC126861896, MYH6 (E1710D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2904393	NM_002471.4(MYH6):c.50G>A (p.Arg17His)	LOC114827851, MYH6 (R17H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2903165	NM_002471.4(MYH6):c.4359+13_4359+14delinsTA	MYH6	Indel (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2902185	NM_002471.4(MYH6):c.1880C>A (p.Thr627Asn)	MYH6 (T627N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2900909	NM_002471.4(MYH6):c.3064C>T (p.Leu1022=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2900474	NM_002471.4(MYH6):c.1142-3C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2900324	NM_002471.4(MYH6):c.2800A>G (p.Met934Val)	MYH6 (M934V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2899338	NM_002471.4(MYH6):c.3859+3G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2893085	NM_002471.4(MYH6):c.1002+20C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2892810	NM_002471.4(MYH6):c.1066G>T (p.Ala356Ser)	MYH6 (A356S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2889927	NM_002471.4(MYH6):c.1047C>G (p.Gly349=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2887630	NM_002471.4(MYH6):c.899-16C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2887064	NM_002471.4(MYH6):c.2947G>A (p.Glu983Lys)	MYH6 (E983K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2886423	NM_002471.4(MYH6):c.2293-8G>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2884786	NM_002471.4(MYH6):c.678C>A (p.Pro226=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2884414	NM_002471.4(MYH6):c.4820C>T (p.Thr1607Ile)	LOC126861896, MYH6 (T1607I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance

<< First< Prev

Page of 24