Related gene-specific medical variations for Gene (Select 4625) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337360	NM_000257.4(MYH7):c.2387T>C (p.Leu796Pro)	LOC126861898, MYH7 (L796P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337358	NM_000257.4(MYH7):c.4890C>G (p.Ser1630Arg)	LOC126861897, MHRT +1 more (S1630R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3336914	NM_000257.4(MYH7):c.4927G>A (p.Val1643Ile)	LOC126861897, MHRT +1 more (V1643I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3336837	NM_000257.4(MYH7):c.5042T>C (p.Leu1681Pro)	LOC126861897, MHRT +1 more (L1681P)	Single nucleotide variant (non-coding transcript variant +1 more)	MYH7-related skeletal myopathy	GLikely pathogenic
Select item 3297527	NM_000257.4(MYH7):c.5133G>A (p.Glu1711=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3297511	NM_000257.4(MYH7):c.2533A>G (p.Arg845Gly)	LOC126861898, MYH7 (R845G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3252628	NM_000257.4(MYH7):c.4763G>C (p.Arg1588Pro)	LOC126861897, MHRT +1 more (R1588P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 3243939	NC_000014.8:g.(?_23897769)_(23900067_?)del	MYH7	Deletion	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 3243938	NC_000014.8:g.(?_23882063)_(23885541_?)dup	MYH7	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3243936	NC_000014.8:g.(?_23889034)_(23889463_?)dup	MYH7	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3243931	NC_000014.8:g.(?_23895091)_(23897831_?)del	MYH7	Deletion	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3242432	NM_000257.4(MYH7):c.4943del (p.Ser1648fs)	LOC126861897, MHRT +2 more (S1648fs)	Deletion (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 3238758	NM_000257.4(MYH7):c.805G>A (p.Glu269Lys)	MYH7 (E269K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +3 more	GUncertain significance
Select item 3233262	NM_000257.4(MYH7):c.5168T>C (p.Leu1723Pro)	LOC126861897, MHRT +1 more (L1723P)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy	GLikely pathogenic
Select item 3230916	NM_000257.4(MYH7):c.5159A>G (p.Asn1720Ser)	LOC126861897, MHRT +1 more (N1720S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230915	NM_000257.4(MYH7):c.5110C>A (p.Gln1704Lys)	LOC126861897, MHRT +1 more (Q1704K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3230913	NM_000257.4(MYH7):c.5004G>A (p.Lys1668=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3230912	NM_000257.4(MYH7):c.4788G>C (p.Ser1596=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3230911	NM_000257.4(MYH7):c.4671G>T (p.Lys1557Asn)	LOC126861897, MHRT +1 more (K1557N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3230901	NM_000257.4(MYH7):c.2441_2442delinsAA (p.Ile814Lys)	LOC126861898, MYH7 (I814K)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3158359	NM_000257.4(MYH7):c.4839G>A (p.Arg1613=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3075668	NM_000257.4(MYH7):c.2629A>T (p.Met877Leu)	LOC126861898, MYH7 (M877L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 3075424	NM_000257.4(MYH7):c.4848G>A (p.Lys1616=)	MHRT, LOC126861897 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3075409	NM_000257.4(MYH7):c.4645-10C>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3075358	NM_000257.4(MYH7):c.5108A>G (p.Glu1703Gly)	MHRT, LOC126861897 +1 more (E1703G)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3075207	NM_000257.4(MYH7):c.5267A>G (p.Lys1756Arg)	LOC126861897, MYH7 (K1756R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075186	NM_000257.4(MYH7):c.4777G>T (p.Val1593Leu)	LOC126861897, MHRT +1 more (V1593L)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3075033	NM_000257.4(MYH7):c.4590A>C (p.Arg1530=)	MHRT, MYH7	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3074760	NM_000257.4(MYH7):c.2604T>C (p.Ala868=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074434	NM_000257.4(MYH7):c.2460C>T (p.Ala820=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3074424	NM_000257.4(MYH7):c.4550G>C (p.Gly1517Ala)	MHRT, MYH7 (G1517A)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3074372	NM_000257.4(MYH7):c.4356C>G (p.Ile1452Met)	MHRT, MYH7 (I1452M)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3074200	NM_000257.4(MYH7):c.4911_4913delinsTCGGCTTCTGGGCCTCG (p.Glu1638fs)	LOC126861897, MHRT +1 more (E1638fs)	Indel (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074187	NM_000257.4(MYH7):c.4557C>A (p.Ser1519Arg)	MHRT, MYH7 (S1519R)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3074082	NM_000257.4(MYH7):c.5103G>A (p.Leu1701=)	MHRT, LOC126861897 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3074044	NM_000257.4(MYH7):c.4353+3G>A	MHRT, MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3073996	NM_000257.4(MYH7):c.4529C>T (p.Ser1510Phe)	MHRT, MYH7 (S1510F)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073927	NM_000257.4(MYH7):c.2408del (p.Lys803fs)	LOC126861898, MYH7 (K803fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 3073533	NM_000257.4(MYH7):c.4506C>T (p.Asn1502=)	MHRT, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GUncertain significance
Select item 3073522	NM_000257.4(MYH7):c.4589G>T (p.Arg1530Leu)	MHRT, MYH7 (R1530L)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073483	NM_000257.4(MYH7):c.5069C>T (p.Ala1690Val)	LOC126861897, MHRT +1 more (A1690V)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073466	NM_000257.4(MYH7):c.2587C>G (p.Leu863Val)	LOC126861898, MYH7 (L863V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073427	NM_000257.4(MYH7):c.4570C>T (p.His1524Tyr)	MHRT, MYH7 (H1524Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073392	NM_000257.4(MYH7):c.2424-15A>G	LOC126861898, MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3073345	NM_000257.4(MYH7):c.4536G>C (p.Leu1512Phe)	MHRT, MYH7 (L1512F)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073212	NM_000257.4(MYH7):c.4604C>A (p.Ala1535Asp)	MHRT, MYH7 (A1535D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073210	NM_000257.4(MYH7):c.2308C>T (p.Leu770=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073209	NM_000257.4(MYH7):c.2307G>T (p.Leu769=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073140	NM_000257.4(MYH7):c.4820G>A (p.Ser1607Asn)	LOC126861897, MHRT +1 more (S1607N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073125	NM_000257.4(MYH7):c.5034C>G (p.Asn1678Lys)	LOC126861897, MHRT +1 more (N1678K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3073075	NM_000257.4(MYH7):c.4490C>A (p.Thr1497Asn)	MHRT, MYH7 (T1497N)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073046	NM_000257.4(MYH7):c.4417G>C (p.Glu1473Gln)	MHRT, MYH7 (E1473Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3072989	NM_000257.4(MYH7):c.2419C>T (p.Arg807Cys)	LOC126861898, MYH7 (R807C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3072860	NM_000257.4(MYH7):c.2384T>A (p.Val795Glu)	LOC126861898, MYH7 (V795E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3072735	NM_000257.4(MYH7):c.5068G>A (p.Ala1690Thr)	LOC126861897, MHRT +1 more (A1690T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3072723	NM_000257.4(MYH7):c.4730C>T (p.Ala1577Val)	LOC126861897, MHRT +1 more (A1577V)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3072558	NM_000257.4(MYH7):c.4660G>C (p.Glu1554Gln)	LOC126861897, MHRT +1 more (E1554Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3072351	NM_000257.4(MYH7):c.5072T>G (p.Val1691Gly)	LOC126861897, MHRT +1 more (V1691G)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3072281	NM_000257.4(MYH7):c.4288G>T (p.Val1430Leu)	MHRT, MYH7 (V1430L)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3072210	NM_000257.4(MYH7):c.4374G>C (p.Gln1458His)	MHRT, MYH7 (Q1458H)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3072179	NM_000257.4(MYH7):c.4426T>G (p.Ser1476Ala)	MHRT, MYH7 (S1476A)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3072165	NM_000257.4(MYH7):c.4714A>G (p.Ile1572Val)	LOC126861897, MHRT +1 more (I1572V)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3071432	NM_000257.4(MYH7):c.4880T>G (p.Ile1627Ser)	LOC126861897, MHRT +1 more (I1627S)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3071417	NM_000257.4(MYH7):c.5010C>T (p.Asn1670=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3071309	NM_000257.4(MYH7):c.5040G>A (p.Leu1680=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3071165	NM_000257.4(MYH7):c.5225A>G (p.Glu1742Gly)	LOC126861897, MYH7 (E1742G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3071162	NM_000257.4(MYH7):c.4972G>A (p.Asp1658Asn)	LOC126861897, MHRT +1 more (D1658N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3071078	NM_000257.4(MYH7):c.2573G>T (p.Arg858Leu)	LOC126861898, MYH7 (R858L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3071066	NM_000257.4(MYH7):c.2417A>C (p.Glu806Ala)	LOC126861898, MYH7 (E806A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3070822	NM_000257.4(MYH7):c.5095C>T (p.Arg1699Trp)	LOC126861897, MHRT +1 more (R1699W)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3070795	NM_000257.4(MYH7):c.4924C>T (p.Gln1642Ter)	MHRT, LOC126861897 +1 more (Q1642*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3070745	NM_000257.4(MYH7):c.5229G>A (p.Glu1743=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3070409	NM_000257.4(MYH7):c.4806C>A (p.Asp1602Glu)	LOC126861897, MHRT +1 more (D1602E)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3070348	NM_000257.4(MYH7):c.4402G>T (p.Glu1468Ter)	MHRT, MYH7 (E1468*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3070077	NM_000257.4(MYH7):c.5053C>A (p.Leu1685Met)	LOC126861897, MHRT +1 more (L1685M)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3070071	NM_000257.4(MYH7):c.4953+1G>T	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3069903	NM_000257.4(MYH7):c.2410C>T (p.Leu804=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3069779	NM_000257.4(MYH7):c.4370A>G (p.Lys1457Arg)	MHRT, MYH7 (K1457R)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3069721	NM_000257.4(MYH7):c.5158-14C>T	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3069632	NM_000257.4(MYH7):c.4801C>G (p.Leu1601Val)	LOC126861897, MHRT +1 more (L1601V)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3069624	NM_000257.4(MYH7):c.2381G>A (p.Gly794Asp)	LOC126861898, MYH7 (G794D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3069446	NM_000257.4(MYH7):c.4603G>A (p.Ala1535Thr)	MHRT, MYH7 (A1535T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3069391	NM_000257.4(MYH7):c.4494C>T (p.Phe1498=)	MHRT, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3069343	NM_000257.4(MYH7):c.2553C>T (p.Ser851=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3068593	NM_000257.4(MYH7):c.5119A>G (p.Ile1707Val)	LOC126861897, MHRT +1 more (I1707V)	Single nucleotide variant (non-coding transcript variant +1 more)	Pericarditis	GUncertain significance
Select item 3068245	NM_000257.4(MYH7):c.1482T>G (p.Phe494Leu)	MYH7 (F494L)	Single nucleotide variant (missense variant)	Myosin storage myopathy	GUncertain significance
Select item 3062303	NM_000257.4(MYH7):c.1370T>A (p.Ile457Lys)	MYH7 (I457K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 3020852	NM_000257.4(MYH7):c.4953+13A>G	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3017077	NM_000257.4(MYH7):c.5252C>A (p.Ala1751Asp)	LOC126861897, MYH7 (A1751D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3015142	NM_000257.4(MYH7):c.4353+20del	MHRT, MYH7	Deletion (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3011646	NM_000257.4(MYH7):c.4954-19C>G	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3010659	NM_000257.4(MYH7):c.4874T>G (p.Met1625Arg)	MHRT, LOC126861897 +1 more (M1625R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2999708	NM_000257.4(MYH7):c.4953G>C (p.Lys1651Asn)	LOC126861897, MHRT +1 more (K1651N)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2990574	NM_000257.4(MYH7):c.4520-12T>C	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2986758	NM_000257.4(MYH7):c.4264C>A (p.Gln1422Lys)	MHRT, MYH7 (Q1422K)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2984723	NM_000257.4(MYH7):c.5089C>A (p.Arg1697=)	LOC126861897, MHRT +1 more	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2979110	NM_000257.4(MYH7):c.4521G>C (p.Glu1507Asp)	MHRT, MYH7 (E1507D)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2978574	NM_000257.4(MYH7):c.4901G>T (p.Arg1634Leu)	LOC126861897, MHRT +1 more (R1634L)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 2972386	NM_000257.4(MYH7):c.4954-6C>G	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2971724	NM_000257.4(MYH7):c.4647C>T (p.Ala1549=)	LOC126861897, MHRT +1 more	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign

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