ClinVar for Gene (Select 51778) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3226917	NM_016599.5(MYOZ2):c.703A>G (p.Thr235Ala)	MYOZ2 (T235A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226916	NM_016599.5(MYOZ2):c.693C>T (p.Ser231=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226915	NM_016599.5(MYOZ2):c.464C>T (p.Ala155Val)	MYOZ2 (A155V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226914	NM_016599.5(MYOZ2):c.204C>T (p.Tyr68=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226913	NM_016599.5(MYOZ2):c.132G>T (p.Leu44Phe)	MYOZ2 (L44F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	DDX60L, MTHFD2L +537 more	Copy number gain	not provided	GPathogenic
Select item 2977160	NM_016599.5(MYOZ2):c.377-15T>C	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2976469	NM_016599.5(MYOZ2):c.442T>C (p.Tyr148His)	MYOZ2 (Y148H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2913452	NM_016599.5(MYOZ2):c.546C>T (p.Tyr182=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2887582	NM_016599.5(MYOZ2):c.302C>T (p.Ser101Leu)	MYOZ2 (S101L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2882836	NM_016599.5(MYOZ2):c.361G>A (p.Asp121Asn)	MYOZ2 (D121N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2881121	NM_016599.5(MYOZ2):c.348C>G (p.Ser116Arg)	MYOZ2 (S116R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2872342	NM_016599.5(MYOZ2):c.552C>T (p.Ser184=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2824917	NM_016599.5(MYOZ2):c.85G>A (p.Gly29Ser)	MYOZ2 (G29S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2777423	NM_016599.5(MYOZ2):c.456G>A (p.Trp152Ter)	MYOZ2 (W152*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2752035	NM_016599.5(MYOZ2):c.549G>C (p.Arg183Ser)	MYOZ2 (R183S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2735086	NM_016599.5(MYOZ2):c.577G>A (p.Gly193Arg)	MYOZ2 (G193R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2731383	NM_016599.5(MYOZ2):c.373C>G (p.Pro125Ala)	MYOZ2 (P125A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2626092	NM_016599.5(MYOZ2):c.390A>T (p.Pro130=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2626091	NM_016599.5(MYOZ2):c.592G>T (p.Ala198Ser)	MYOZ2 (A198S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2626090	NM_016599.5(MYOZ2):c.561-5C>T	MYOZ2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2626089	NM_016599.5(MYOZ2):c.246+4G>A	MYOZ2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2581298	NC_000004.11:g.(?_120056938)_(120108945_?)dup	MYOZ2	Duplication	not specified	GUncertain significance
Select item 2564189	NM_016599.5(MYOZ2):c.702G>C (p.Arg234Ser)	MYOZ2 (R234S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2491141	NM_016599.5(MYOZ2):c.419A>G (p.Asn140Ser)	MYOZ2 (N140S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449419	NM_016599.5(MYOZ2):c.141A>T (p.Leu47Phe)	MYOZ2 (L47F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449418	NM_016599.5(MYOZ2):c.193T>G (p.Ser65Ala)	MYOZ2 (S65A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449417	NM_016599.5(MYOZ2):c.331A>G (p.Thr111Ala)	MYOZ2 (T111A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449416	NM_016599.5(MYOZ2):c.748A>C (p.Thr250Pro)	MYOZ2 (T250P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449415	NM_016599.5(MYOZ2):c.124A>T (p.Ile42Phe)	MYOZ2 (I42F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2426311	NC_000004.11:g.(?_120057681)_(120057776_?)dup	MYOZ2	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2289802	NM_016599.5(MYOZ2):c.650C>G (p.Pro217Arg)	MYOZ2 (P217R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2190330	NM_016599.5(MYOZ2):c.27G>C (p.Lys9Asn)	MYOZ2 (K9N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2168619	NM_016599.5(MYOZ2):c.295G>A (p.Gly99Ser)	MYOZ2 (G99S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2143193	NM_016599.5(MYOZ2):c.519T>C (p.Pro173=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2140282	NM_016599.5(MYOZ2):c.706C>A (p.Pro236Thr)	MYOZ2 (P236T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2117456	NM_016599.5(MYOZ2):c.538C>T (p.Pro180Ser)	MYOZ2 (P180S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2080604	NM_016599.5(MYOZ2):c.682G>A (p.Gly228Ser)	MYOZ2 (G228S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2078349	NM_016599.5(MYOZ2):c.252T>C (p.Ser84=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2068947	NM_016599.5(MYOZ2):c.77-18A>G	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2058665	NM_016599.5(MYOZ2):c.251G>C (p.Ser84Thr)	MYOZ2 (S84T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2021344	NM_016599.5(MYOZ2):c.55dup (p.Met19fs)	MYOZ2 (M19fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1994268	NM_016599.5(MYOZ2):c.477T>A (p.Asp159Glu)	MYOZ2 (D159E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1980759	NM_016599.5(MYOZ2):c.706C>T (p.Pro236Ser)	MYOZ2 (P236S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1914384	NM_016599.5(MYOZ2):c.544T>C (p.Tyr182His)	MYOZ2 (Y182H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1795267	NM_016599.5(MYOZ2):c.272A>G (p.Lys91Arg)	MYOZ2 (K91R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1793100	NM_016599.5(MYOZ2):c.255T>G (p.Ile85Met)	MYOZ2 (I85M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1792795	NM_016599.5(MYOZ2):c.253A>C (p.Ile85Leu)	MYOZ2 (I85L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1790536	NM_016599.5(MYOZ2):c.238C>A (p.Gln80Lys)	MYOZ2 (Q80K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1788089	NM_016599.5(MYOZ2):c.222G>T (p.Gln74His)	MYOZ2 (Q74H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1787895	NM_016599.5(MYOZ2):c.221A>G (p.Gln74Arg)	MYOZ2 (Q74R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1787254	NM_016599.5(MYOZ2):c.217T>A (p.Phe73Ile)	MYOZ2 (F73I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1785894	NM_016599.5(MYOZ2):c.20T>C (p.Met7Thr)	MYOZ2 (M7T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1783925	NM_016599.5(MYOZ2):c.198C>A (p.Asp66Glu)	MYOZ2 (D66E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1770798	NM_016599.5(MYOZ2):c.135del (p.Glu46fs)	MYOZ2 (E46fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1769326	NM_016599.5(MYOZ2):c.129G>C (p.Met43Ile)	MYOZ2 (M43I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1765030	NM_016599.5(MYOZ2):c.88A>G (p.Met30Val)	MYOZ2 (M30V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1761167	NM_016599.5(MYOZ2):c.790C>G (p.Leu264Val)	MYOZ2 (L264V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1760099	NM_016599.5(MYOZ2):c.767C>G (p.Thr256Ser)	MYOZ2 (T256S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1759085	NM_016599.5(MYOZ2):c.747A>C (p.Thr249=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1758609	NM_016599.5(MYOZ2):c.737T>C (p.Ile246Thr)	MYOZ2 (I246T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1757268	NM_016599.5(MYOZ2):c.711G>C (p.Lys237Asn)	MYOZ2 (K237N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755179	NM_016599.5(MYOZ2):c.673C>A (p.Pro225Thr)	MYOZ2 (P225T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1754307	NM_016599.5(MYOZ2):c.657T>C (p.Phe219=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1749754	NM_016599.5(MYOZ2):c.57G>A (p.Met19Ile)	MYOZ2 (M19I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1746896	NM_016599.5(MYOZ2):c.119G>A (p.Arg40Lys)	MYOZ2 (R40K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745837	NM_016599.5(MYOZ2):c.517C>A (p.Pro173Thr)	MYOZ2 (P173T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1735681	NM_016599.5(MYOZ2):c.386G>A (p.Gly129Glu)	MYOZ2 (G129E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1735415	NM_016599.5(MYOZ2):c.383C>T (p.Ser128Phe)	MYOZ2 (S128F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1735411	NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys)	MYOZ2 (S128C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1733387	NM_016599.5(MYOZ2):c.362A>G (p.Asp121Gly)	MYOZ2 (D121G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1729822	NM_016599.5(MYOZ2):c.328A>T (p.Asn110Tyr)	MYOZ2 (N110Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1693887	NM_016599.5(MYOZ2):c.494C>T (p.Ala165Val)	MYOZ2 (A165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677519	NM_016599.5(MYOZ2):c.327del (p.Asn110fs)	MYOZ2 (N110fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1664366	NM_016599.5(MYOZ2):c.77-5dup	MYOZ2	Duplication (intron variant)	Hypertrophic cardiomyopathy +1 more	GBenign/Likely benign
Select item 1638061	NM_016599.5(MYOZ2):c.77-9G>A	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1635037	NM_016599.5(MYOZ2):c.309A>G (p.Gln103=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1632135	NM_016599.5(MYOZ2):c.441C>T (p.Tyr147=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1617493	NM_016599.5(MYOZ2):c.447A>G (p.Gln149=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1616777	NM_016599.5(MYOZ2):c.561-20T>C	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1614287	NM_016599.5(MYOZ2):c.705T>C (p.Thr235=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1587127	NM_016599.5(MYOZ2):c.207A>C (p.Thr69=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1587025	NM_016599.5(MYOZ2):c.561-6C>T	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1580165	NM_016599.5(MYOZ2):c.76+8T>C	MYOZ2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1566056	NM_016599.5(MYOZ2):c.150C>T (p.Leu50=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1545868	NM_016599.5(MYOZ2):c.792A>G (p.Leu264=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1527120	GRCh37/hg19 4q26-27(chr4:119902254-121463237)	C4orf3, FABP2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1520010	NM_016599.5(MYOZ2):c.200A>G (p.Lys67Arg)	MYOZ2 (K67R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1514517	NM_016599.5(MYOZ2):c.373C>T (p.Pro125Ser)	MYOZ2 (P125S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1493383	NM_016599.5(MYOZ2):c.36A>C (p.Lys12Asn)	MYOZ2 (K12N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1484537	NM_016599.5(MYOZ2):c.177G>C (p.Lys59Asn)	MYOZ2 (K59N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1477201	NM_016599.5(MYOZ2):c.566C>T (p.Ala189Val)	MYOZ2 (A189V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1472592	NM_016599.5(MYOZ2):c.724G>A (p.Glu242Lys)	MYOZ2 (E242K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1465143	NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu)	MYOZ2 (M1L)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1451020	NC_000004.11:g.(?_120057681)_(120107355_?)dup	MYOZ2	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1450962	NC_000004.11:g.(?_120095665)_(120107238_?)del	MYOZ2	Deletion	Hypertrophic cardiomyopathy	GUncertain significance

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