MHRT (myosin heavy chain associated RNA transcript) - Rat Genome Database

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Gene: MHRT (myosin heavy chain associated RNA transcript) Homo sapiens
Analyze
No known orthologs.
Symbol: MHRT
Name: myosin heavy chain associated RNA transcript
RGD ID: 9589955
HGNC Page HGNC:51291
Description: Predicted to enable protein sequestering activity. Predicted to be involved in chromatin remodeling.
Type: ncrna
RefSeq Status: REVIEWED
Previously known as: Myheart; myosin heavy chain-associated RNA transcript
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381423,415,450 - 23,417,595 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371423,884,659 - 23,886,804 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map14q11.2NCBI
CHM1_11423,883,331 - 23,885,476 (+)NCBICHM1_1
T2T-CHM13v2.01417,616,454 - 17,618,599 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
triclosan  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:25119045   PMID:25691692   PMID:28296001   PMID:29917257   PMID:31048766   PMID:31273599   PMID:32702806  


Genomics

Variants

.
Variants in MHRT
852 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000257.4(MYH7):c.5027G>A (p.Arg1676Gln) single nucleotide variant Hypertrophic cardiomyopathy [RCV000542901]|not provided [RCV000658395] Chr14:23415759 [GRCh38]
Chr14:23884968 [GRCh37]
Chr14:14q11.2		 uncertain significance
NC_000014.8:g.(?_23861751)_(23889463_?)dup duplication Hypertrophic cardiomyopathy 14 [RCV000526847]|Hypertrophic cardiomyopathy [RCV001853713] Chr14:23392542..23420254 [GRCh38]
Chr14:23861751..23889463 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4826_4828delinsGCCGCAACC (p.Asn1609_Glu1610delinsSerArgAsnGln) indel not specified [RCV000523739] Chr14:23416129..23416131 [GRCh38]
Chr14:23885338..23885340 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4648T>C (p.Ser1550Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV000628914]|not provided [RCV003129948] Chr14:23416309 [GRCh38]
Chr14:23885518 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4590A>G (p.Arg1530=) single nucleotide variant Hypertrophic cardiomyopathy [RCV000629160] Chr14:23416922 [GRCh38]
Chr14:23886131 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4354-10C>G single nucleotide variant Hypertrophic cardiomyopathy [RCV000544178] Chr14:23417328 [GRCh38]
Chr14:23886537 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4966C>G (p.Gln1656Glu) single nucleotide variant Hypertrophic cardiomyopathy [RCV000525541] Chr14:23415820 [GRCh38]
Chr14:23885029 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile) single nucleotide variant Cardiomyopathy [RCV001176835]|Cardiovascular phenotype [RCV002329246]|Hypertrophic cardiomyopathy 1 [RCV002506282]|Hypertrophic cardiomyopathy [RCV000798106]|Primary dilated cardiomyopathy [RCV001293072]|not provided [RCV000712357] Chr14:23417562 [GRCh38]
Chr14:23886771 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4285_4287del (p.Met1429del) deletion Myosin storage myopathy [RCV003320242] Chr14:23417569..23417571 [GRCh38]
Chr14:23886778..23886780 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5130T>G (p.Ser1710Arg) single nucleotide variant Cardiomyopathy [RCV004009219]|Hypertrophic cardiomyopathy [RCV001907853] Chr14:23415656 [GRCh38]
Chr14:23884865 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4563G>C (p.Lys1521Asn) single nucleotide variant not provided [RCV003159453] Chr14:23416949 [GRCh38]
Chr14:23886158 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4373A>G (p.Gln1458Arg) single nucleotide variant Cardiomyopathy [RCV004005015]|Hypertrophic cardiomyopathy [RCV001302766] Chr14:23417299 [GRCh38]
Chr14:23886508 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4707G>T (p.Lys1569Asn) single nucleotide variant not provided [RCV000172043] Chr14:23416250 [GRCh38]
Chr14:23885459 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) single nucleotide variant Cardiomyopathy [RCV000777701]|Dilated Cardiomyopathy, Dominant [RCV000384692]|Hypertrophic cardiomyopathy 1 [RCV002478549]|Hypertrophic cardiomyopathy [RCV000345240]|Left ventricular noncompaction cardiomyopathy [RCV000290332]|MYH7-related skeletal myopathy [RCV000313875]|Myosin storage myopathy [RCV003320133]|Scapuloperoneal myopathy [RCV000390901]|Sudden unexplained death [RCV000201892]|not provided [RCV000172044]|not specified [RCV001823718] Chr14:23417535 [GRCh38]
Chr14:23886744 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) single nucleotide variant Cardiomyopathy [RCV000777755]|Hypertrophic cardiomyopathy 1 [RCV000201468]|Hypertrophic cardiomyopathy [RCV000554994]|MYH7-related disorder [RCV004541282]|not provided [RCV003133174] Chr14:23415794 [GRCh38]
Chr14:23885003 [GRCh37]
Chr14:14q11.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4571A>G (p.His1524Arg) single nucleotide variant Cardiomyopathy [RCV003997036]|Hypertrophic cardiomyopathy 1 [RCV000201485]|Hypertrophic cardiomyopathy [RCV001853226] Chr14:23416941 [GRCh38]
Chr14:23886150 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4915G>A (p.Ala1639Thr) single nucleotide variant Cardiomyopathy [RCV001185802]|Cardiovascular phenotype [RCV004020492]|Hypertrophic cardiomyopathy [RCV003586168]|not provided [RCV001508721]|not specified [RCV000202758] Chr14:23416042 [GRCh38]
Chr14:23885251 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4353+10G>A single nucleotide variant Hypertrophic cardiomyopathy [RCV001086618]|not provided [RCV000712358]|not specified [RCV000035904] Chr14:23417493 [GRCh38]
Chr14:23886702 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000257.4(MYH7):c.4354-7C>T single nucleotide variant Cardiomyopathy [RCV001188648]|Hypertrophic cardiomyopathy [RCV000629073]|not specified [RCV000035905] Chr14:23417325 [GRCh38]
Chr14:23886534 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) single nucleotide variant Cardiomyopathy [RCV000758029]|Cardiovascular phenotype [RCV000247619]|Congenital myopathy with fiber type disproportion [RCV001270174]|Hypertrophic cardiomyopathy 1 [RCV000162336]|Hypertrophic cardiomyopathy 1 [RCV002504881]|Hypertrophic cardiomyopathy [RCV000466190]|MYH7-related skeletal myopathy [RCV001109803]|Myosin storage myopathy [RCV003320077]|Primary familial hypertrophic cardiomyopathy [RCV000148704]|Wolff-Parkinson-White pattern [RCV000656145]|not provided [RCV000177508]|not specified [RCV000035906] Chr14:23417295 [GRCh38]
Chr14:23886504 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4644+3G>A single nucleotide variant Cardiomyopathy [RCV000771885]|not specified [RCV000035924] Chr14:23416865 [GRCh38]
Chr14:23886074 [GRCh37]
Chr14:14q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4953+13A>T single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV002496547]|Hypertrophic cardiomyopathy [RCV002054576]|not specified [RCV000035940] Chr14:23415991 [GRCh38]
Chr14:23885200 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4353+13T>G single nucleotide variant not specified [RCV000127002] Chr14:23417490 [GRCh38]
Chr14:23886699 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4354-2A>C single nucleotide variant not specified [RCV000156030] Chr14:23417320 [GRCh38]
Chr14:23886529 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4954-14C>G single nucleotide variant Cardiomyopathy [RCV003998317]|Hypertrophic cardiomyopathy [RCV005089765]|not specified [RCV000156508] Chr14:23415846 [GRCh38]
Chr14:23885055 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4644+5G>C single nucleotide variant Cardiomyopathy [RCV003998360]|Cardiovascular phenotype [RCV002336355]|Hypertrophic cardiomyopathy 1 [RCV002505188]|Hypertrophic cardiomyopathy [RCV001850220]|not provided [RCV000158648] Chr14:23416863 [GRCh38]
Chr14:23886072 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4353+5G>A single nucleotide variant Cardiomyopathy [RCV003531998]|Cardiovascular phenotype [RCV002326902]|Hypertrophic cardiomyopathy [RCV000704878]|not provided [RCV000158655] Chr14:23417498 [GRCh38]
Chr14:23886707 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4520-1G>T single nucleotide variant Hypertrophic cardiomyopathy [RCV002877242] Chr14:23416993 [GRCh38]
Chr14:23886202 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV000804244]|MYH7-related skeletal myopathy [RCV000192201]|not provided [RCV003488340] Chr14:23417173 [GRCh38]
Chr14:23886382 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.3(MYH7):c.4849_4851delAAG (p.Lys1617del) deletion Laing distal myopathy [RCV000015173]|Myopathy, distal, 1 [RCV000132753] Chr14:23416106..23416108 [GRCh38]
Chr14:23885315..23885317 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) single nucleotide variant Cardiovascular phenotype [RCV002345244]|Hypertrophic cardiomyopathy 1 [RCV000015175]|Hypertrophic cardiomyopathy [RCV000546277]|MYH7-related disorder [RCV004532358]|Myopathy, myosin storage, autosomal recessive [RCV003151728]|Primary familial hypertrophic cardiomyopathy [RCV003319168]|not provided [RCV000480992] Chr14:23415652 [GRCh38]
Chr14:23884861 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) single nucleotide variant Asymmetric septal hypertrophy [RCV001251032]|Cardiomyopathy [RCV001170487]|Cardiovascular phenotype [RCV000586653]|Hypertrophic cardiomyopathy 1 [RCV000995812]|Hypertrophic cardiomyopathy 1 [RCV002504832]|Hypertrophic cardiomyopathy [RCV000199234]|Primary familial hypertrophic cardiomyopathy [RCV000030320]|not provided [RCV000223711] Chr14:23415651 [GRCh38]
Chr14:23884860 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) single nucleotide variant Cardiovascular phenotype [RCV000589082]|Dilated cardiomyopathy 1S [RCV005252707]|Hypertrophic cardiomyopathy [RCV000629028]|Primary dilated cardiomyopathy [RCV000758069]|Primary familial dilated cardiomyopathy [RCV000790631]|not provided [RCV000417392]|not specified [RCV000035899] Chr14:23417580 [GRCh38]
Chr14:23886789 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) single nucleotide variant Cardiomyopathy [RCV000777759]|Cardiovascular phenotype [RCV002326729]|Dilated Cardiomyopathy, Dominant [RCV000350069]|Hypertrophic cardiomyopathy 1 [RCV001094104]|Hypertrophic cardiomyopathy [RCV000355576]|Left ventricular noncompaction cardiomyopathy [RCV000300774]|MYH7-related disorder [RCV004534748]|MYH7-related skeletal myopathy [RCV000260672]|Myosin storage myopathy [RCV003320076]|not provided [RCV000868550]|not specified [RCV000035901] Chr14:23417563 [GRCh38]
Chr14:23886772 [GRCh37]
Chr14:14q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4330A>G (p.Lys1444Glu) single nucleotide variant not specified [RCV000035902] Chr14:23417526 [GRCh38]
Chr14:23886735 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) single nucleotide variant Cardiomyopathy [RCV001170993]|Cardiovascular phenotype [RCV002326730]|Dilated cardiomyopathy 1S [RCV001841564]|Hypertrophic cardiomyopathy [RCV001241747]|Primary dilated cardiomyopathy [RCV004017302]|not provided [RCV000995146] Chr14:23417508 [GRCh38]
Chr14:23886717 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4395G>T (p.Ser1465=) single nucleotide variant Cardiomyopathy [RCV001182228]|Cardiovascular phenotype [RCV003372605]|Hypertrophic cardiomyopathy [RCV000459376]|not specified [RCV000035908] Chr14:23417277 [GRCh38]
Chr14:23886486 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) single nucleotide variant Cardiomyopathy [RCV000770478]|Cardiovascular phenotype [RCV002326731]|Hypertrophic cardiomyopathy 1 [RCV000989186]|Hypertrophic cardiomyopathy [RCV001223389]|not provided [RCV000158865]|not specified [RCV000035909] Chr14:23417273 [GRCh38]
Chr14:23886482 [GRCh37]
Chr14:14q11.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4408T>C (p.Ser1470Pro) single nucleotide variant not specified [RCV000035910] Chr14:23417264 [GRCh38]
Chr14:23886473 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter) single nucleotide variant Cardiomyopathy [RCV003531919]|Cardiovascular phenotype [RCV000618766]|Hypertrophic cardiomyopathy [RCV003105778]|not provided [RCV001753444]|not specified [RCV000035911] Chr14:23417261 [GRCh38]
Chr14:23886470 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4436C>T (p.Thr1479Ile) single nucleotide variant Cardiomyopathy [RCV001188089]|Hypertrophic cardiomyopathy [RCV005089343]|not provided [RCV000766459]|not specified [RCV000035912] Chr14:23417236 [GRCh38]
Chr14:23886445 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) single nucleotide variant Cardiomyopathy [RCV000758037]|Hypertrophic cardiomyopathy [RCV001082545]|not provided [RCV000712359]|not specified [RCV000035913] Chr14:23417220 [GRCh38]
Chr14:23886429 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) single nucleotide variant Cardiomyopathy [RCV004806025]|Cardiovascular phenotype [RCV002326732]|Hypertrophic cardiomyopathy [RCV001209343]|Myosin storage myopathy [RCV004765311]|not provided [RCV000225735]|not specified [RCV000035915] Chr14:23417185 [GRCh38]
Chr14:23886394 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4515G>T (p.Leu1505=) single nucleotide variant Cardiomyopathy [RCV001175853]|Cardiovascular phenotype [RCV002336115]|Hypertrophic cardiomyopathy [RCV002054575]|not provided [RCV001723608]|not specified [RCV000035916] Chr14:23417157 [GRCh38]
Chr14:23886366 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) single nucleotide variant Cardiomyopathy [RCV001188366]|Cardiovascular phenotype [RCV004018781]|Dilated cardiomyopathy 1S [RCV001112484]|Hypertrophic cardiomyopathy 1 [RCV001112483]|Hypertrophic cardiomyopathy [RCV001035172]|MYH7-related skeletal myopathy [RCV001112486]|Myosin storage myopathy [RCV003320078]|not specified [RCV000035918] Chr14:23416987 [GRCh38]
Chr14:23886196 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4537A>T (p.Thr1513Ser) single nucleotide variant Cardiomyopathy [RCV001804759]|Hypertrophic cardiomyopathy [RCV001371585]|not provided [RCV001775551]|not specified [RCV000035919] Chr14:23416975 [GRCh38]
Chr14:23886184 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4540G>A (p.Glu1514Lys) single nucleotide variant not specified [RCV000035920] Chr14:23416972 [GRCh38]
Chr14:23886181 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) single nucleotide variant Cardiomyopathy [RCV000758044]|Cardiovascular phenotype [RCV000253223]|Dilated Cardiomyopathy, Dominant [RCV000310680]|Hypertrophic cardiomyopathy 1 [RCV001094148]|Hypertrophic cardiomyopathy [RCV000306450]|Left ventricular noncompaction cardiomyopathy [RCV000370506]|MYH7-related skeletal myopathy [RCV000192198]|Myosin storage myopathy [RCV003320079]|not provided [RCV001528940]|not specified [RCV000035921] Chr14:23416946 [GRCh38]
Chr14:23886155 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) single nucleotide variant Cardiomyopathy [RCV000758057]|Cardiovascular phenotype [RCV000244791]|Hypertrophic cardiomyopathy 1 [RCV002477076]|Hypertrophic cardiomyopathy [RCV000628928]|MYH7-related disorder [RCV004528173]|not specified [RCV000035923] Chr14:23416924 [GRCh38]
Chr14:23886133 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4671G>A (p.Lys1557=) single nucleotide variant Cardiomyopathy [RCV000758033]|Cardiovascular phenotype [RCV000617380]|Hypertrophic cardiomyopathy [RCV000867951]|not specified [RCV000035925] Chr14:23416286 [GRCh38]
Chr14:23885495 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) single nucleotide variant Cardiomyopathy [RCV000758024]|Cardiovascular phenotype [RCV000247901]|Dilated Cardiomyopathy, Dominant [RCV000277849]|Hypertrophic cardiomyopathy 1 [RCV001094203]|Hypertrophic cardiomyopathy [RCV000293254]|Left ventricular noncompaction cardiomyopathy [RCV000332866]|MYH7-related skeletal myopathy [RCV000320200]|Myosin storage myopathy [RCV003320080]|not provided [RCV001705654]|not specified [RCV000035926] Chr14:23416241 [GRCh38]
Chr14:23885450 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000257.4(MYH7):c.4720C>T (p.Arg1574Trp) single nucleotide variant Cardiomyopathy [RCV003996213]|Cardiovascular phenotype [RCV002336117]|Hypertrophic cardiomyopathy [RCV003764667]|not specified [RCV000035927] Chr14:23416237 [GRCh38]
Chr14:23885446 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) single nucleotide variant Cardiomyopathy [RCV000758053]|Hypertrophic cardiomyopathy [RCV001085959]|not provided [RCV000712361]|not specified [RCV000035929] Chr14:23416169 [GRCh38]
Chr14:23885378 [GRCh37]
Chr14:14q11.2		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000257.4(MYH7):c.4803G>A (p.Leu1601=) single nucleotide variant Cardiovascular phenotype [RCV003162309]|Hypertrophic cardiomyopathy [RCV000707371]|not specified [RCV000035930] Chr14:23416154 [GRCh38]
Chr14:23885363 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) single nucleotide variant Cardiomyopathy [RCV000769444]|Cardiovascular phenotype [RCV000618217]|Dilated Cardiomyopathy, Dominant [RCV000390599]|Hypertrophic cardiomyopathy 1 [RCV001094202]|Hypertrophic cardiomyopathy 1 [RCV002496546]|Hypertrophic cardiomyopathy [RCV000227655]|Left ventricular noncompaction cardiomyopathy [RCV000327396]|MYH7-related disorder [RCV004528174]|MYH7-related skeletal myopathy [RCV000363143]|Myosin storage myopathy [RCV003320081]|not provided [RCV001311855]|not specified [RCV000035931] Chr14:23416151 [GRCh38]
Chr14:23885360 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852453]|Cardiomyopathy [RCV000769443]|Cardiovascular phenotype [RCV000619414]|Hypertrophic cardiomyopathy 1 [RCV000201450]|Hypertrophic cardiomyopathy [RCV000475488]|not provided [RCV000766463]|not specified [RCV000035933] Chr14:23416140 [GRCh38]
Chr14:23885349 [GRCh37]
Chr14:14q11.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val) single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV002477077]|not specified [RCV000035934] Chr14:23416123 [GRCh38]
Chr14:23885332 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4838G>A (p.Arg1613Lys) single nucleotide variant Cardiomyopathy [RCV003996214]|Hypertrophic cardiomyopathy [RCV000456855]|MYH7-related disorder [RCV004757113]|not provided [RCV000767039]|not specified [RCV000035935] Chr14:23416119 [GRCh38]
Chr14:23885328 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4864C>T (p.Leu1622Phe) single nucleotide variant Cardiomyopathy [RCV001185538]|Cardiovascular phenotype [RCV000620735]|Hypertrophic cardiomyopathy [RCV001039843]|not provided [RCV000766464]|not specified [RCV000035936] Chr14:23416093 [GRCh38]
Chr14:23885302 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4900C>T (p.Arg1634Cys) single nucleotide variant Cardiomyopathy [RCV003996215]|Cardiovascular phenotype [RCV002336118]|Hypertrophic cardiomyopathy [RCV000628891]|not provided [RCV000767017] Chr14:23416057 [GRCh38]
Chr14:23885266 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) single nucleotide variant Cardiomyopathy [RCV000758026]|Cardiovascular phenotype [RCV000620929]|Dilated cardiomyopathy 1S [RCV002227441]|Hypertrophic cardiomyopathy 1 [RCV000989185]|Hypertrophic cardiomyopathy [RCV000465008]|MYH7-related disorder [RCV004541080]|Primary familial hypertrophic cardiomyopathy [RCV000148696]|Ventricular fibrillation [RCV000853439]|not provided [RCV001703873]|not specified [RCV000035938] Chr14:23416048 [GRCh38]
Chr14:23885257 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=) single nucleotide variant Cardiomyopathy [RCV001189929]|Cardiovascular phenotype [RCV002345278]|Hypertrophic cardiomyopathy [RCV000864511]|MYH7-related disorder [RCV004534749]|not specified [RCV000035939] Chr14:23416046 [GRCh38]
Chr14:23885255 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr) single nucleotide variant Cardiomyopathy [RCV000769441]|Cardiovascular phenotype [RCV003298058]|Hypertrophic cardiomyopathy 1 [RCV000584779]|Hypertrophic cardiomyopathy 1 [RCV002490490]|Hypertrophic cardiomyopathy [RCV000694818]|not provided [RCV000766465]|not specified [RCV004782028] Chr14:23415832 [GRCh38]
Chr14:23885041 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) single nucleotide variant Cardiomyopathy [RCV000758043]|Cardiovascular phenotype [RCV002336119]|Hypertrophic cardiomyopathy [RCV000474208]|not provided [RCV001682726]|not specified [RCV000035942] Chr14:23415812 [GRCh38]
Chr14:23885021 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) single nucleotide variant Cardiomyopathy [RCV001184540]|Cardiovascular phenotype [RCV004018782]|Hypertrophic cardiomyopathy [RCV001050756]|Primary dilated cardiomyopathy [RCV000148703]|not provided [RCV001719728]|not specified [RCV000035943] Chr14:23415801 [GRCh38]
Chr14:23885010 [GRCh37]
Chr14:14q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.5015_5020del (p.Ala1672_Ile1673del) deletion not specified [RCV000035945] Chr14:23415766..23415771 [GRCh38]
Chr14:23884975..23884980 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.5020G>A (p.Val1674Met) single nucleotide variant Cardiomyopathy [RCV001185539]|Dilated cardiomyopathy 1S [RCV004786303]|Hypertrophic cardiomyopathy [RCV000628865]|not specified [RCV000035946] Chr14:23415766 [GRCh38]
Chr14:23884975 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) single nucleotide variant Cardiomyopathy [RCV000758076]|Cardiovascular phenotype [RCV000248510]|Dilated Cardiomyopathy, Dominant [RCV000344972]|Dilated cardiomyopathy 1S [RCV000304358]|Hypertrophic cardiomyopathy 1 [RCV001094157]|Hypertrophic cardiomyopathy 1 [RCV002496548]|Hypertrophic cardiomyopathy [RCV000405836]|MYH7-related skeletal myopathy [RCV000192199]|Myosin storage myopathy [RCV003320084]|not provided [RCV001705655]|not specified [RCV000035950] Chr14:23415680 [GRCh38]
Chr14:23884889 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.5115G>A (p.Glu1705=) single nucleotide variant Cardiomyopathy [RCV001170488]|Hypertrophic cardiomyopathy [RCV001452894]|not specified [RCV000035951] Chr14:23415671 [GRCh38]
Chr14:23884880 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) microsatellite Cardiomyopathy [RCV005402809]|Cardiovascular phenotype [RCV002336112]|Congenital myopathy with fiber type disproportion [RCV000034922]|Hypertrophic cardiomyopathy [RCV000628918]|MYH7-related skeletal myopathy [RCV000035952] Chr14:23415476..23415478 [GRCh38]
Chr14:23884685..23884687 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val) single nucleotide variant Cardiomyopathy [RCV003996216]|Hypertrophic cardiomyopathy 1 [RCV002482969]|Hypertrophic cardiomyopathy [RCV003764668]|not specified [RCV000035953] Chr14:23415472 [GRCh38]
Chr14:23884681 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4975G>A (p.Asp1659Asn) single nucleotide variant Cardiomyopathy [RCV003996564]|Cardiovascular phenotype [RCV004019084]|Hypertrophic cardiomyopathy [RCV001347127]|not provided [RCV004998185] Chr14:23415811 [GRCh38]
Chr14:23885020 [GRCh37]
Chr14:22954860 [NCBI36]
Chr14:14q11.2		 uncertain significance|not provided
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=) single nucleotide variant Cardiomyopathy [RCV001181118]|Hypertrophic cardiomyopathy [RCV000629158]|not provided [RCV001701611]|not specified [RCV000127004] Chr14:23416130 [GRCh38]
Chr14:23885339 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000257.4(MYH7):c.4442T>C (p.Leu1481Pro) single nucleotide variant MYH7-related skeletal myopathy [RCV000132747] Chr14:23417230 [GRCh38]
Chr14:23886439 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.3(MYH7):c.4522_4524del microsatellite Cardiomyopathy [RCV003996212]|Cardiovascular phenotype [RCV002336116]|Congenital myopathy [RCV004586033]|Hypertrophic cardiomyopathy [RCV000558675]|MYH7-related skeletal myopathy [RCV000132748]|not provided [RCV000217126] Chr14:23416988..23416990 [GRCh38]
Chr14:23886197..23886199 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV001857478]|MYH7-related skeletal myopathy [RCV000132749]|not provided [RCV003236783] Chr14:23416890 [GRCh38]
Chr14:23886099 [GRCh37]
Chr14:14q11.2		 pathogenic|uncertain significance
NM_000257.4(MYH7):c.4795A>C (p.Thr1599Pro) single nucleotide variant MYH7-related skeletal myopathy [RCV000132750] Chr14:23416162 [GRCh38]
Chr14:23885371 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.4823G>C (p.Arg1608Pro) single nucleotide variant MYH7-related skeletal myopathy [RCV000132751] Chr14:23416134 [GRCh38]
Chr14:23885343 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV000459843]|MYH7-related skeletal myopathy [RCV000132752]|Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) [RCV002515923] Chr14:23416122 [GRCh38]
Chr14:23885331 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV001348438]|MYH7-related skeletal myopathy [RCV000132754]|Myosin storage myopathy [RCV003320105] Chr14:23416020 [GRCh38]
Chr14:23885229 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4985G>C (p.Arg1662Pro) single nucleotide variant Cardiomyopathy [RCV003998153]|MYH7-related disorder [RCV004528865]|MYH7-related skeletal myopathy [RCV000132755] Chr14:23415801 [GRCh38]
Chr14:23885010 [GRCh37]
Chr14:14q11.2		 pathogenic|uncertain significance
NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del) deletion Hypertrophic cardiomyopathy [RCV000819391]|MYH7-related skeletal myopathy [RCV000132756]|not provided [RCV003133146] Chr14:23415779..23415781 [GRCh38]
Chr14:23884988..23884990 [GRCh37]
Chr14:14q11.2		 pathogenic|uncertain significance
NM_000257.4(MYH7):c.5177AGA[5] (p.Lys1729dup) microsatellite MYH7-related skeletal myopathy [RCV000132757] Chr14:23415475..23415476 [GRCh38]
Chr14:23884684..23884685 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.4906G>C (p.Ala1636Pro) single nucleotide variant MYH7-related skeletal myopathy [RCV000132761] Chr14:23416051 [GRCh38]
Chr14:23885260 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln) single nucleotide variant Cardiomyopathy [RCV004806088]|Dilated cardiomyopathy 1S [RCV000984901]|Hypertrophic cardiomyopathy [RCV001229490]|not specified [RCV000151236] Chr14:23415690 [GRCh38]
Chr14:23884899 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) single nucleotide variant Cardiomyopathy [RCV000770475]|Cardiovascular phenotype [RCV000617211]|Hypertrophic cardiomyopathy 1 [RCV002498700]|Hypertrophic cardiomyopathy [RCV000232679]|Primary dilated cardiomyopathy [RCV000151238]|not provided [RCV000786165] Chr14:23417174 [GRCh38]
Chr14:23886383 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic
NM_000257.4(MYH7):c.4326G>A (p.Leu1442=) single nucleotide variant Cardiomyopathy [RCV003531976]|Hypertrophic cardiomyopathy [RCV001504478]|not provided [RCV001668300]|not specified [RCV000151239] Chr14:23417530 [GRCh38]
Chr14:23886739 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) single nucleotide variant Cardiomyopathy [RCV000777946]|Cardiovascular phenotype [RCV000618508]|Hypertrophic cardiomyopathy 1 [RCV002505151]|Hypertrophic cardiomyopathy [RCV000473362]|Restrictive cardiomyopathy [RCV000208499]|not provided [RCV001701529] Chr14:23417573 [GRCh38]
Chr14:23886782 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.5156A>G (p.Gln1719Arg) single nucleotide variant Cardiomyopathy [RCV003998252]|Hypertrophic cardiomyopathy 1 [RCV004786411]|Hypertrophic cardiomyopathy [RCV001850116]|not provided [RCV004797785]|not specified [RCV000154582] Chr14:23415630 [GRCh38]
Chr14:23884839 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys) single nucleotide variant Cardiomyopathy [RCV001184477]|Cardiovascular phenotype [RCV002336317]|Dilated cardiomyopathy 1S [RCV001112386]|Hypertrophic cardiomyopathy 1 [RCV001112385]|Hypertrophic cardiomyopathy [RCV000470391]|MYH7-related disorder [RCV004532746]|MYH7-related skeletal myopathy [RCV001112388]|Myosin storage myopathy [RCV003320111]|not provided [RCV000172042]|not specified [RCV000154606] Chr14:23416141 [GRCh38]
Chr14:23885350 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4725G>A (p.Lys1575=) single nucleotide variant Cardiomyopathy [RCV000777998]|Cardiovascular phenotype [RCV002336321]|Hypertrophic cardiomyopathy [RCV001440280]|not specified [RCV000154770] Chr14:23416232 [GRCh38]
Chr14:23885441 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=) single nucleotide variant Cardiomyopathy [RCV000777805]|Cardiovascular phenotype [RCV002336322]|Hypertrophic cardiomyopathy [RCV000463768]|not provided [RCV001528561]|not specified [RCV000154771] Chr14:23416894 [GRCh38]
Chr14:23886103 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) single nucleotide variant Cardiomyopathy [RCV000770473]|Cardiovascular phenotype [RCV002336323]|Hypertrophic cardiomyopathy 1 [RCV001112039]|Hypertrophic cardiomyopathy [RCV001421187]|MYH7-related skeletal myopathy [RCV001112040]|Myosin storage myopathy [RCV003320112]|not provided [RCV000921428]|not specified [RCV000154772] Chr14:23416955 [GRCh38]
Chr14:23886164 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.5110C>T (p.Gln1704Ter) single nucleotide variant not provided [RCV000766466]|not specified [RCV000156190] Chr14:23415676 [GRCh38]
Chr14:23884885 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5067_5079delinsGGCCGTGGAAGAA (p.Val1692Glu) indel not specified [RCV000156459] Chr14:23415707..23415719 [GRCh38]
Chr14:23884916..23884928 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4663G>C (p.Glu1555Gln) single nucleotide variant Hypertrophic cardiomyopathy [RCV001306103]|not specified [RCV000156658] Chr14:23416294 [GRCh38]
Chr14:23885503 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4362C>G (p.Ala1454=) single nucleotide variant not specified [RCV000156810] Chr14:23417310 [GRCh38]
Chr14:23886519 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4481A>T (p.His1494Leu) single nucleotide variant Cardiomyopathy [RCV001170991]|Hypertrophic cardiomyopathy [RCV001320219]|not provided [RCV003133154]|not specified [RCV000156875] Chr14:23417191 [GRCh38]
Chr14:23886400 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) single nucleotide variant Cardiomyopathy [RCV001727608]|Cardiovascular phenotype [RCV000252808]|Hypertrophic cardiomyopathy [RCV001850186]|Primary dilated cardiomyopathy [RCV000157364]|not provided [RCV000158660] Chr14:23417173 [GRCh38]
Chr14:23886382 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) single nucleotide variant Cardiomyopathy [RCV000758034]|Cardiovascular phenotype [RCV000254102]|Dilated cardiomyopathy 1S [RCV000331016]|Hypertrophic cardiomyopathy 1 [RCV000203136]|Hypertrophic cardiomyopathy [RCV000172762]|Restrictive cardiomyopathy [RCV000852699]|not provided [RCV000712360]|not specified [RCV000035914] Chr14:23417200 [GRCh38]
Chr14:23886409 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000257.4(MYH7):c.4270G>A (p.Glu1424Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV003748197]|not provided [RCV000158649] Chr14:23417586 [GRCh38]
Chr14:23886795 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.3(MYH7):c.4280A>T (p.Asp1427Val) single nucleotide variant Cardiomyopathy [RCV000158651] Chr14:23417576 [GRCh38]
Chr14:23886785 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) single nucleotide variant Cardiomyopathy [RCV001180570]|Cardiovascular phenotype [RCV004019918]|Dilated cardiomyopathy 1S [RCV004786429]|Hypertrophic cardiomyopathy [RCV000466942]|not provided [RCV000158653] Chr14:23417556 [GRCh38]
Chr14:23886765 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys) single nucleotide variant Cardiomyopathy [RCV001181612]|Cardiovascular phenotype [RCV002326903]|Hypertrophic cardiomyopathy 1 [RCV002484977]|Hypertrophic cardiomyopathy [RCV000628837]|not provided [RCV000515035] Chr14:23417249 [GRCh38]
Chr14:23886458 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4532A>C (p.Asp1511Ala) single nucleotide variant not provided [RCV000158662] Chr14:23416980 [GRCh38]
Chr14:23886189 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4589G>A (p.Arg1530Gln) single nucleotide variant Cardiovascular phenotype [RCV002336356]|Hypertrophic cardiomyopathy [RCV000823461]|not provided [RCV000158663] Chr14:23416923 [GRCh38]
Chr14:23886132 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4643A>C (p.Glu1548Ala) single nucleotide variant Hypertrophic cardiomyopathy [RCV002515074]|not provided [RCV000158664] Chr14:23416869 [GRCh38]
Chr14:23886078 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4664A>G (p.Glu1555Gly) single nucleotide variant Myopathy, myosin storage, autosomal recessive [RCV003228795]|not provided [RCV000158665] Chr14:23416293 [GRCh38]
Chr14:23885502 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln) single nucleotide variant Cardiomyopathy [RCV000778009]|Cardiovascular phenotype [RCV002326904]|Hypertrophic cardiomyopathy 1 [RCV002492626]|Hypertrophic cardiomyopathy [RCV000628848]|MYH7-related disorder [RCV004757148]|not provided [RCV000766461]|not specified [RCV000158666] Chr14:23416278 [GRCh38]
Chr14:23885487 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4687C>G (p.Leu1563Val) single nucleotide variant Cardiomyopathy [RCV001184264]|Hypertrophic cardiomyopathy [RCV000526209] Chr14:23416270 [GRCh38]
Chr14:23885479 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4709C>A (p.Ala1570Glu) single nucleotide variant Cardiomyopathy [RCV001185243]|Cardiovascular phenotype [RCV002336357]|Hypertrophic cardiomyopathy [RCV000628917]|not provided [RCV000158668] Chr14:23416248 [GRCh38]
Chr14:23885457 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln) single nucleotide variant Cardiomyopathy [RCV000778015]|Cardiovascular phenotype [RCV000619034]|Hypertrophic cardiomyopathy 1 [RCV002498788]|Hypertrophic cardiomyopathy [RCV001211825]|not provided [RCV003133156] Chr14:23416185 [GRCh38]
Chr14:23885394 [GRCh37]
Chr14:14q11.2		 pathogenic|uncertain significance
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr) single nucleotide variant Cardiomyopathy [RCV001183734]|Cardiovascular phenotype [RCV000620277]|Hypertrophic cardiomyopathy 1 [RCV002484978]|Hypertrophic cardiomyopathy [RCV001850221]|not provided [RCV000158670] Chr14:23416150 [GRCh38]
Chr14:23885359 [GRCh37]
Chr14:14q11.2		 pathogenic|uncertain significance
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln) single nucleotide variant Cardiomyopathy [RCV003149964]|Cardiovascular phenotype [RCV003298183]|Hypertrophic cardiomyopathy 1 [RCV005003504]|Hypertrophic cardiomyopathy [RCV001057246]|not provided [RCV000158673] Chr14:23416129 [GRCh38]
Chr14:23885338 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4855G>A (p.Glu1619Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV000473596]|not provided [RCV000158674] Chr14:23416102 [GRCh38]
Chr14:23885311 [GRCh37]
Chr14:14q11.2		 pathogenic|uncertain significance
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr) single nucleotide variant Cardiomyopathy [RCV001804876]|Cardiovascular phenotype [RCV002336358]|Hypertrophic cardiomyopathy 1 [RCV002484979]|Hypertrophic cardiomyopathy [RCV000541040]|not provided [RCV000158676] Chr14:23416053 [GRCh38]
Chr14:23885262 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys) single nucleotide variant Cardiomyopathy [RCV001176076]|Cardiovascular phenotype [RCV002336359]|Hypertrophic cardiomyopathy [RCV000687792]|not provided [RCV000158681]|not specified [RCV001290657] Chr14:23415757 [GRCh38]
Chr14:23884966 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.5120T>C (p.Ile1707Thr) single nucleotide variant Cardiomyopathy [RCV001186243]|Cardiovascular phenotype [RCV002336360]|not provided [RCV000158683] Chr14:23415666 [GRCh38]
Chr14:23884875 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr) single nucleotide variant Cardiomyopathy [RCV001176077]|Cardiovascular phenotype [RCV003362699]|Hypertrophic cardiomyopathy 1 [RCV002484980]|Hypertrophic cardiomyopathy [RCV000819479]|not provided [RCV000158685] Chr14:23415461 [GRCh38]
Chr14:23884670 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5206C>T (p.Gln1736Ter) single nucleotide variant Hypertrophic cardiomyopathy [RCV000700747] Chr14:23415458 [GRCh38]
Chr14:23884667 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp) single nucleotide variant not provided [RCV000158866]|not specified [RCV000219927] Chr14:23417202 [GRCh38]
Chr14:23886411 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4649C>T (p.Ser1550Phe) single nucleotide variant Hypertrophic cardiomyopathy [RCV001207738]|not provided [RCV000158867] Chr14:23416308 [GRCh38]
Chr14:23885517 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser) single nucleotide variant Cardiomyopathy [RCV001181614]|Cardiovascular phenotype [RCV003362701]|Hypertrophic cardiomyopathy 1 [RCV002492629]|Hypertrophic cardiomyopathy [RCV001366342]|not provided [RCV000158868] Chr14:23416126 [GRCh38]
Chr14:23885335 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) single nucleotide variant Cardiomyopathy [RCV001176078]|Cardiovascular phenotype [RCV002336365]|Hypertrophic cardiomyopathy 1 [RCV002498790]|Hypertrophic cardiomyopathy [RCV000799550]|MYH7-related disorder [RCV004528899]|Myosin storage myopathy [RCV004760404]|Primary dilated cardiomyopathy [RCV001293063]|not provided [RCV000158869] Chr14:23415756 [GRCh38]
Chr14:23884965 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys) single nucleotide variant Cardiomyopathy [RCV001185248]|Cardiovascular phenotype [RCV003372630]|Hypertrophic cardiomyopathy 1 [RCV002478480]|Hypertrophic cardiomyopathy [RCV000693933]|not provided [RCV001721011]|not specified [RCV004586578] Chr14:23415721 [GRCh38]
Chr14:23884930 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12		 likely pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 copy number gain See cases [RCV000050914] Chr14:20151149..23442195 [GRCh38]
Chr14:20619308..23911404 [GRCh37]
Chr14:19689148..22981244 [NCBI36]
Chr14:14q11.2		 pathogenic
GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3 copy number gain See cases [RCV000052058] Chr14:23260803..23763521 [GRCh38]
Chr14:23730012..24232730 [GRCh37]
Chr14:22799852..23302570 [NCBI36]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4353+17G>A single nucleotide variant Hypertrophic cardiomyopathy [RCV002054012]|not provided [RCV001651037]|not specified [RCV000168903] Chr14:23417486 [GRCh38]
Chr14:23886695 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000257.4(MYH7):c.4353+42G>A single nucleotide variant not provided [RCV000830568]|not specified [RCV000168904] Chr14:23417461 [GRCh38]
Chr14:23886670 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000257.4(MYH7):c.4520-25C>T single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV002478523]|Hypertrophic cardiomyopathy [RCV000629119]|not provided [RCV001589049]|not specified [RCV000168905] Chr14:23417017 [GRCh38]
Chr14:23886226 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000257.4(MYH7):c.4644+24G>T single nucleotide variant Cardiomyopathy [RCV003486997]|Hypertrophic cardiomyopathy [RCV002538500]|not provided [RCV001613736] Chr14:23416844 [GRCh38]
Chr14:23886053 [GRCh37]
Chr14:14q11.2		 benign|likely benign|uncertain significance
NM_000257.4(MYH7):c.4980A>C (p.Ala1660=) single nucleotide variant Cardiomyopathy [RCV001180803]|Cardiovascular phenotype [RCV002345565]|Hypertrophic cardiomyopathy [RCV001450136]|not provided [RCV001668326] Chr14:23415806 [GRCh38]
Chr14:23885015 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.3(MYH7):c.5012T>C (p.Ile1671Thr) single nucleotide variant not specified [RCV000168909] Chr14:23415774 [GRCh38]
Chr14:23884983 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5017A>T (p.Ile1673Phe) single nucleotide variant Cardiomyopathy [RCV003150657] Chr14:23415769 [GRCh38]
Chr14:23884978 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5139G>A (p.Val1713=) single nucleotide variant Cardiomyopathy [RCV001186297]|Cardiovascular phenotype [RCV000617588]|Hypertrophic cardiomyopathy [RCV001426472]|not provided [RCV000168911] Chr14:23415647 [GRCh38]
Chr14:23884856 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV005089982]|Myopathy [RCV000193528] Chr14:23416071 [GRCh38]
Chr14:23885280 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4315G>C (p.Ala1439Pro) single nucleotide variant Myopathy, distal, 1 [RCV000192206] Chr14:23417541 [GRCh38]
Chr14:23886750 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.4763G>C (p.Arg1588Pro) single nucleotide variant not provided [RCV004590600] Chr14:23416194 [GRCh38]
Chr14:23885403 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic
NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro) single nucleotide variant not provided [RCV000484676] Chr14:23416185 [GRCh38]
Chr14:23885394 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic
NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV000551132]|Myosin storage myopathy [RCV004586591] Chr14:23416150 [GRCh38]
Chr14:23885359 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic
NM_000257.4(MYH7):c.4987G>C (p.Ala1663Pro) single nucleotide variant Myopathy, distal, 1 [RCV000192210] Chr14:23415799 [GRCh38]
Chr14:23885008 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.5117T>C (p.Leu1706Pro) single nucleotide variant Myopathy, distal, 1 [RCV000192211] Chr14:23415669 [GRCh38]
Chr14:23884878 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) microsatellite Abnormality of the musculature [RCV001814087]|Cardiovascular phenotype [RCV004984710]|Hypertrophic cardiomyopathy [RCV000526457]|MYH7-related skeletal myopathy [RCV000192202]|not provided [RCV000599460] Chr14:23416105..23416107 [GRCh38]
Chr14:23885314..23885316 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) single nucleotide variant Cardiomyopathy [RCV001178631]|Cardiovascular phenotype [RCV002336579]|Dilated cardiomyopathy 1S [RCV001329733]|Hypertrophic cardiomyopathy 1 [RCV002503822]|Hypertrophic cardiomyopathy [RCV000628959]|Primary familial hypertrophic cardiomyopathy [RCV000208188]|not provided [RCV001788068] Chr14:23416056 [GRCh38]
Chr14:23885265 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5071G>A (p.Val1691Met) single nucleotide variant Cardiomyopathy [RCV000769438]|Cardiovascular phenotype [RCV002347814]|Hypertrophic cardiomyopathy [RCV000531386]|Left ventricular noncompaction cardiomyopathy [RCV000208343]|not provided [RCV001722137] Chr14:23415715 [GRCh38]
Chr14:23884924 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys) single nucleotide variant Cardiomyopathy [RCV001183228]|Cardiovascular phenotype [RCV003165509]|Dilated cardiomyopathy 1S [RCV004786555]|First degree atrioventricular block [RCV000208040]|Hypertrophic cardiomyopathy [RCV000811692]|MYH7-related disorder [RCV004530251]|not provided [RCV000995144]|not specified [RCV000454653] Chr14:23416240 [GRCh38]
Chr14:23885449 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4510A>T (p.Asn1504Tyr) single nucleotide variant Primary dilated cardiomyopathy [RCV000208339] Chr14:23417162 [GRCh38]
Chr14:23886371 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5088G>C (p.Glu1696Asp) single nucleotide variant Cardiomyopathy [RCV001523969]|Cardiovascular phenotype [RCV004020624]|Hypertrophic cardiomyopathy [RCV000628860]|not provided [RCV005230103]|not specified [RCV000213375] Chr14:23415698 [GRCh38]
Chr14:23884907 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val) single nucleotide variant Cardiomyopathy [RCV001187402]|Cardiovascular phenotype [RCV004639186]|Dilated cardiomyopathy 1A [RCV001256697]|Hypertrophic cardiomyopathy [RCV000795542]|not provided [RCV001555883]|not specified [RCV000220338] Chr14:23416125 [GRCh38]
Chr14:23885334 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln) single nucleotide variant Cardiomyopathy [RCV001179801]|Cardiovascular phenotype [RCV002338683]|Hypertrophic cardiomyopathy [RCV000805571]|not provided [RCV003137810]|not specified [RCV000217985] Chr14:23416236 [GRCh38]
Chr14:23885445 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5191G>A (p.Asp1731Asn) single nucleotide variant Cardiomyopathy [RCV003997742]|Cardiovascular phenotype [RCV002338684]|Hypertrophic cardiomyopathy [RCV002517568]|Polymorphic ventricular tachycardia [RCV004595495]|not provided [RCV003389712]|not specified [RCV000218383] Chr14:23415473 [GRCh38]
Chr14:23884682 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4402G>C (p.Glu1468Gln) single nucleotide variant not specified [RCV000216261] Chr14:23417270 [GRCh38]
Chr14:23886479 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5019C>T (p.Ile1673=) single nucleotide variant Cardiomyopathy [RCV001186890]|Hypertrophic cardiomyopathy [RCV000533435]|MYH7-related disorder [RCV004530300]|not specified [RCV000216264] Chr14:23415767 [GRCh38]
Chr14:23884976 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) single nucleotide variant Cardiomyopathy [RCV001798726]|Cardiovascular phenotype [RCV000241907]|Hypertrophic cardiomyopathy 1 [RCV004786613]|Hypertrophic cardiomyopathy [RCV000689327]|Primary familial hypertrophic cardiomyopathy [RCV003401157]|not provided [RCV003314581]|not specified [RCV000223760] Chr14:23417270 [GRCh38]
Chr14:23886479 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4363G>A (p.Glu1455Lys) single nucleotide variant Cardiomyopathy [RCV001187347]|Cardiovascular phenotype [RCV002327098]|Hypertrophic cardiomyopathy [RCV001854769]|not provided [RCV001577895]|not specified [RCV000223810] Chr14:23417309 [GRCh38]
Chr14:23886518 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4519+1G>C single nucleotide variant Cardiovascular phenotype [RCV005404412]|Hypertrophic cardiomyopathy [RCV001854770]|not specified [RCV000223846] Chr14:23417152 [GRCh38]
Chr14:23886361 [GRCh37]
Chr14:14q11.2		 pathogenic|uncertain significance
NM_000257.4(MYH7):c.5113del (p.Glu1705fs) deletion Hypertrophic cardiomyopathy [RCV000233217] Chr14:23415673 [GRCh38]
Chr14:23884882 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4414_4416del (p.Lys1472del) deletion Hypertrophic cardiomyopathy [RCV001295931]|Inborn genetic diseases [RCV000623045]|not provided [RCV003133410] Chr14:23417256..23417258 [GRCh38]
Chr14:23886465..23886467 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4869T>C (p.Asn1623=) single nucleotide variant Cardiovascular phenotype [RCV004985010]|Hypertrophic cardiomyopathy [RCV002063237]|not provided [RCV004705684]|not specified [RCV000605769] Chr14:23416088 [GRCh38]
Chr14:23885297 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4650C>T (p.Ser1550=) single nucleotide variant Cardiomyopathy [RCV003532160]|Cardiovascular phenotype [RCV002341248]|Hypertrophic cardiomyopathy [RCV000547783] Chr14:23416307 [GRCh38]
Chr14:23885516 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4347C>T (p.Phe1449=) single nucleotide variant Cardiomyopathy [RCV001183744]|Cardiovascular phenotype [RCV000243828]|Hypertrophic cardiomyopathy [RCV000863346]|not provided [RCV001570567] Chr14:23417509 [GRCh38]
Chr14:23886718 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4341G>A (p.Arg1447=) single nucleotide variant Cardiovascular phenotype [RCV000248788]|Hypertrophic cardiomyopathy [RCV005090276] Chr14:23417515 [GRCh38]
Chr14:23886724 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4965T>C (p.Ile1655=) single nucleotide variant Cardiomyopathy [RCV001186051]|Cardiovascular phenotype [RCV000241809]|Hypertrophic cardiomyopathy [RCV001393081] Chr14:23415821 [GRCh38]
Chr14:23885030 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4953+17G>A single nucleotide variant Hypertrophic cardiomyopathy [RCV002057326]|not provided [RCV001689787]|not specified [RCV000242958] Chr14:23415987 [GRCh38]
Chr14:23885196 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu) single nucleotide variant Cardiomyopathy [RCV004003601]|Hypertrophic cardiomyopathy 1 [RCV002490901]|Hypertrophic cardiomyopathy [RCV000688117]|not provided [RCV000521554] Chr14:23415807 [GRCh38]
Chr14:23885016 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys) single nucleotide variant Dilated cardiomyopathy 1S [RCV000336900]|Hypertrophic cardiomyopathy 1 [RCV001094164]|Hypertrophic cardiomyopathy [RCV000404092]|Left ventricular noncompaction cardiomyopathy [RCV000281905]|MYH7-related skeletal myopathy [RCV000297103]|Myosin storage myopathy [RCV003320155]|not provided [RCV003129830] Chr14:23416129 [GRCh38]
Chr14:23885338 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4372C>T (p.Gln1458Ter) single nucleotide variant MYH7-related disorder [RCV004529555] Chr14:23417300 [GRCh38]
Chr14:23886509 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) single nucleotide variant Cardiomyopathy [RCV000769442]|Cardiovascular phenotype [RCV004021581]|Dilated Cardiomyopathy, Dominant [RCV000346623]|Hypertrophic cardiomyopathy 1 [RCV001094082]|Hypertrophic cardiomyopathy [RCV000289294]|Left ventricular noncompaction cardiomyopathy [RCV000386925]|MYH7-related skeletal myopathy [RCV000295116]|Myosin storage myopathy [RCV003320154]|not provided [RCV001530148] Chr14:23416049 [GRCh38]
Chr14:23885258 [GRCh37]
Chr14:14q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) single nucleotide variant Cardiomyopathy [RCV001189184]|Cardiovascular phenotype [RCV002328825]|Dilated Cardiomyopathy, Dominant [RCV000318017]|Hypertrophic cardiomyopathy 1 [RCV001094204]|Hypertrophic cardiomyopathy [RCV000324167]|Left ventricular noncompaction cardiomyopathy [RCV000372701]|MYH7-related skeletal myopathy [RCV000262797]|Myosin storage myopathy [RCV003320157]|not provided [RCV001172071]|not specified [RCV000441186] Chr14:23417262 [GRCh38]
Chr14:23886471 [GRCh37]
Chr14:14q11.2		 benign|likely benign|uncertain significance
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp) single nucleotide variant Cardiomyopathy [RCV001177405]|Cardiovascular phenotype [RCV002338895]|Dilated cardiomyopathy 1S [RCV000374287]|Hypertrophic cardiomyopathy 1 [RCV000317103]|Hypertrophic cardiomyopathy 1 [RCV002480129]|Hypertrophic cardiomyopathy [RCV001223055]|Left ventricular noncompaction cardiomyopathy [RCV000259550]|MYH7-related skeletal myopathy [RCV000361426]|Myosin storage myopathy [RCV003320153] Chr14:23415760 [GRCh38]
Chr14:23884969 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4659C>T (p.His1553=) single nucleotide variant Cardiomyopathy [RCV001170989]|Cardiovascular phenotype [RCV002338896]|Dilated Cardiomyopathy, Dominant [RCV000340776]|Hypertrophic cardiomyopathy 1 [RCV001094083]|Hypertrophic cardiomyopathy [RCV000285796]|Left ventricular noncompaction cardiomyopathy [RCV000391904]|MYH7-related skeletal myopathy [RCV000334901]|Myosin storage myopathy [RCV003320156]|not provided [RCV000861726]|not specified [RCV000428502] Chr14:23416298 [GRCh38]
Chr14:23885507 [GRCh37]
Chr14:14q11.2		 benign|likely benign|uncertain significance
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=) single nucleotide variant Cardiomyopathy [RCV000769445]|Cardiovascular phenotype [RCV002328789]|Hypertrophic cardiomyopathy [RCV001396542]|not provided [RCV000275443]|not specified [RCV005238854] Chr14:23416268 [GRCh38]
Chr14:23885477 [GRCh37]
Chr14:14q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4680G>A (p.Arg1560=) single nucleotide variant Cardiovascular phenotype [RCV002328769]|Hypertrophic cardiomyopathy [RCV001428206]|not provided [RCV000289756] Chr14:23416277 [GRCh38]
Chr14:23885486 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.5017A>G (p.Ile1673Val) single nucleotide variant Cardiomyopathy [RCV004003633]|Cardiovascular phenotype [RCV002341228]|Hypertrophic cardiomyopathy [RCV005056128]|not provided [RCV000522797] Chr14:23415769 [GRCh38]
Chr14:23884978 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4332G>A (p.Lys1444=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001426640]|not provided [RCV000488244] Chr14:23417524 [GRCh38]
Chr14:23886733 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.5208G>C (p.Gln1736His) single nucleotide variant Dilated cardiomyopathy 1S [RCV000306397]|Hypertrophic cardiomyopathy 1 [RCV001094156]|Hypertrophic cardiomyopathy [RCV000390943]|Left ventricular noncompaction cardiomyopathy [RCV000375663]|MYH7-related skeletal myopathy [RCV000293014]|Myosin storage myopathy [RCV003320152] Chr14:23415456 [GRCh38]
Chr14:23884665 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5168TCA[1] (p.Ile1724del) microsatellite Distal muscle weakness [RCV000296105] Chr14:23415491..23415493 [GRCh38]
Chr14:23884700..23884702 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.4371G>A (p.Lys1457=) single nucleotide variant not specified [RCV000600318] Chr14:23417301 [GRCh38]
Chr14:23886510 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4980A>G (p.Ala1660=) single nucleotide variant Cardiomyopathy [RCV001179398]|Cardiovascular phenotype [RCV000622239]|Hypertrophic cardiomyopathy [RCV002066940] Chr14:23415806 [GRCh38]
Chr14:23885015 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4644+7G>C single nucleotide variant Hypertrophic cardiomyopathy [RCV003748250]|not specified [RCV000606203] Chr14:23416861 [GRCh38]
Chr14:23886070 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4606G>T (p.Glu1536Ter) single nucleotide variant not provided [RCV000598792] Chr14:23416906 [GRCh38]
Chr14:23886115 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5005G>T (p.Glu1669Ter) single nucleotide variant Cardiomyopathy [RCV001805133]|Cardiovascular phenotype [RCV002341217]|Hypertrophic cardiomyopathy [RCV000822368]|not provided [RCV000523716] Chr14:23415781 [GRCh38]
Chr14:23884990 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4909G>C (p.Ala1637Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV000629002]|not provided [RCV003133416] Chr14:23416048 [GRCh38]
Chr14:23885257 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5157+8G>T single nucleotide variant Hypertrophic cardiomyopathy [RCV000556841] Chr14:23415621 [GRCh38]
Chr14:23884830 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5122G>A (p.Glu1708Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV000414763] Chr14:23415664 [GRCh38]
Chr14:23884873 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4605C>T (p.Ala1535=) single nucleotide variant Cardiomyopathy [RCV000777838]|Cardiovascular phenotype [RCV002341247]|Hypertrophic cardiomyopathy [RCV000537157] Chr14:23416907 [GRCh38]
Chr14:23886116 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4741GAG[1] (p.Glu1582del) microsatellite Hypertrophic cardiomyopathy [RCV000536229] Chr14:23416211..23416213 [GRCh38]
Chr14:23885420..23885422 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4290G>T (p.Val1430=) single nucleotide variant Cardiomyopathy [RCV001180314]|Cardiovascular phenotype [RCV002328915]|Hypertrophic cardiomyopathy [RCV000458473]|not specified [RCV000437719] Chr14:23417566 [GRCh38]
Chr14:23886775 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.4513C>T (p.Leu1505=) single nucleotide variant Cardiomyopathy [RCV001184557]|Cardiovascular phenotype [RCV000619461]|Hypertrophic cardiomyopathy [RCV000457918]|not provided [RCV001718853]|not specified [RCV005404549] Chr14:23417159 [GRCh38]
Chr14:23886368 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4354-6G>A single nucleotide variant Cardiomyopathy [RCV001177606]|Hypertrophic cardiomyopathy [RCV000628852]|not provided [RCV001508723]|not specified [RCV000424898] Chr14:23417324 [GRCh38]
Chr14:23886533 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4800C>T (p.Ser1600=) single nucleotide variant Cardiomyopathy [RCV001187669]|Hypertrophic cardiomyopathy [RCV003748228]|MYH7-related disorder [RCV004757231]|not specified [RCV000418757] Chr14:23416157 [GRCh38]
Chr14:23885366 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4275C>T (p.Ile1425=) single nucleotide variant Cardiomyopathy [RCV001184549]|Hypertrophic cardiomyopathy [RCV001409610]|not specified [RCV000439419] Chr14:23417581 [GRCh38]
Chr14:23886790 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5157G>A (p.Gln1719=) single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV002490932]|Hypertrophic cardiomyopathy [RCV000530756] Chr14:23415629 [GRCh38]
Chr14:23884838 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4275C>A (p.Ile1425=) single nucleotide variant Cardiomyopathy [RCV001184550]|Cardiovascular phenotype [RCV003362781]|Hypertrophic cardiomyopathy [RCV001446105]|not provided [RCV000439936] Chr14:23417581 [GRCh38]
Chr14:23886790 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4353+6C>T single nucleotide variant Cardiomyopathy [RCV001187672]|Hypertrophic cardiomyopathy [RCV001220062]|MYH7-related disorder [RCV004532995]|not provided [RCV000995145]|not specified [RCV000419950] Chr14:23417497 [GRCh38]
Chr14:23886706 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4893C>T (p.His1631=) single nucleotide variant Cardiomyopathy [RCV000771992]|Cardiovascular phenotype [RCV002338999]|Hypertrophic cardiomyopathy [RCV001421094]|not specified [RCV000422935] Chr14:23416064 [GRCh38]
Chr14:23885273 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5158-15C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV002524821]|not specified [RCV000444000] Chr14:23415521 [GRCh38]
Chr14:23884730 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4515G>A (p.Leu1505=) single nucleotide variant Cardiomyopathy [RCV001524124]|Cardiovascular phenotype [RCV004649168]|Hypertrophic cardiomyopathy [RCV000460593] Chr14:23417157 [GRCh38]
Chr14:23886366 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4985G>T (p.Arg1662Leu) single nucleotide variant Cardiomyopathy [RCV001185798]|Cardiovascular phenotype [RCV002339146]|Hypertrophic cardiomyopathy [RCV000468219]|not provided [RCV005251133] Chr14:23415801 [GRCh38]
Chr14:23885010 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4681G>C (p.Ala1561Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV003748231]|not provided [RCV000481324] Chr14:23416276 [GRCh38]
Chr14:23885485 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4845G>T (p.Lys1615Asn) single nucleotide variant Hypertrophic cardiomyopathy [RCV000468415] Chr14:23416112 [GRCh38]
Chr14:23885321 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4558G>A (p.Gly1520Arg) single nucleotide variant Cardiomyopathy [RCV003532127]|Hypertrophic cardiomyopathy [RCV000462161]|not provided [RCV003488608] Chr14:23416954 [GRCh38]
Chr14:23886163 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4520-3C>T single nucleotide variant Cardiomyopathy [RCV000776325]|Cardiovascular phenotype [RCV004639241]|Hypertrophic cardiomyopathy [RCV000477119]|not provided [RCV001692129] Chr14:23416995 [GRCh38]
Chr14:23886204 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4343A>T (p.Asn1448Ile) single nucleotide variant Cardiomyopathy [RCV001178172]|Cardiovascular phenotype [RCV002329186]|Hypertrophic cardiomyopathy [RCV000814172]|not provided [RCV000498742] Chr14:23417513 [GRCh38]
Chr14:23886722 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val) single nucleotide variant Cardiomyopathy [RCV001183002]|Cardiovascular phenotype [RCV004984916]|Hypertrophic cardiomyopathy 1 [RCV002481582]|Hypertrophic cardiomyopathy [RCV001347665]|MYH7-related disorder [RCV004541545]|not provided [RCV000497471] Chr14:23416041 [GRCh38]
Chr14:23885250 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4588C>G (p.Arg1530Gly) single nucleotide variant Cardiomyopathy [RCV004003503]|not provided [RCV000498132] Chr14:23416924 [GRCh38]
Chr14:23886133 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4441C>T (p.Leu1481Phe) single nucleotide variant not provided [RCV000494246] Chr14:23417231 [GRCh38]
Chr14:23886440 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4872G>T (p.Glu1624Asp) single nucleotide variant Cardiovascular phenotype [RCV000618238]|not provided [RCV000493336] Chr14:23416085 [GRCh38]
Chr14:23885294 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4907C>T (p.Ala1636Val) single nucleotide variant Cardiomyopathy [RCV001525574]|Hypertrophic cardiomyopathy [RCV000555896] Chr14:23416050 [GRCh38]
Chr14:23885259 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4450C>A (p.Leu1484Ile) single nucleotide variant Cardiovascular phenotype [RCV000618124]|Hypertrophic cardiomyopathy [RCV000805383] Chr14:23417222 [GRCh38]
Chr14:23886431 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4954-14C>T single nucleotide variant Cardiomyopathy [RCV004807035]|Hypertrophic cardiomyopathy [RCV003586205]|not specified [RCV000605894] Chr14:23415846 [GRCh38]
Chr14:23885055 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4895C>A (p.Ala1632Asp) single nucleotide variant Cardiovascular phenotype [RCV000617490] Chr14:23416062 [GRCh38]
Chr14:23885271 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4747A>T (p.Met1583Leu) single nucleotide variant Cardiovascular phenotype [RCV000618173]|Hypertrophic cardiomyopathy [RCV001868100] Chr14:23416210 [GRCh38]
Chr14:23885419 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val) single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV002477373]|Hypertrophic cardiomyopathy [RCV000628904]|not provided [RCV004691949] Chr14:23416945 [GRCh38]
Chr14:23886154 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4286TGG[1] (p.Val1430del) microsatellite Hypertrophic cardiomyopathy [RCV000628930] Chr14:23417565..23417567 [GRCh38]
Chr14:23886774..23886776 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4390C>T (p.Gln1464Ter) single nucleotide variant Cardiomyopathy [RCV001179339]|Cardiovascular phenotype [RCV000621056]|Primary dilated cardiomyopathy [RCV004002740]|not provided [RCV001756014] Chr14:23417282 [GRCh38]
Chr14:23886491 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5070C>G (p.Ala1690=) single nucleotide variant Cardiomyopathy [RCV001181863]|Cardiovascular phenotype [RCV004024940]|Hypertrophic cardiomyopathy [RCV001474514]|not provided [RCV001729654]|not specified [RCV000609809] Chr14:23415716 [GRCh38]
Chr14:23884925 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4941G>A (p.Gln1647=) single nucleotide variant Cardiomyopathy [RCV000772692]|Cardiovascular phenotype [RCV002334016]|Hypertrophic cardiomyopathy [RCV003748261]|not provided [RCV001704826] Chr14:23416016 [GRCh38]
Chr14:23885225 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4571A>C (p.His1524Pro) single nucleotide variant Cardiomyopathy [RCV004807043]|Cardiovascular phenotype [RCV000618410]|Hypertrophic cardiomyopathy [RCV001868134]|not provided [RCV001797112] Chr14:23416941 [GRCh38]
Chr14:23886150 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4389G>A (p.Ser1463=) single nucleotide variant Cardiomyopathy [RCV001189445]|Cardiovascular phenotype [RCV002331003]|Hypertrophic cardiomyopathy [RCV000867318]|not provided [RCV001653937]|not specified [RCV000586151] Chr14:23417283 [GRCh38]
Chr14:23886492 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4645-17C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV002064179]|not specified [RCV000614014] Chr14:23416329 [GRCh38]
Chr14:23885538 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4388C>T (p.Ser1463Leu) single nucleotide variant Cardiovascular phenotype [RCV005372373]|Hypertrophic cardiomyopathy [RCV001367549]|not provided [RCV001591371]|not specified [RCV000609324] Chr14:23417284 [GRCh38]
Chr14:23886493 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-16C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV002065363]|not specified [RCV000605158] Chr14:23416328 [GRCh38]
Chr14:23885537 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His) single nucleotide variant Cardiomyopathy [RCV001186063]|Cardiovascular phenotype [RCV000620900]|Hypertrophic cardiomyopathy 1 [RCV002483712]|Hypertrophic cardiomyopathy [RCV000628878]|not provided [RCV001775923] Chr14:23415720 [GRCh38]
Chr14:23884929 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4783G>A (p.Asp1595Asn) single nucleotide variant Hypertrophic cardiomyopathy [RCV000628859] Chr14:23416174 [GRCh38]
Chr14:23885383 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4868A>G (p.Asn1623Ser) single nucleotide variant Cardiomyopathy [RCV001179128]|Hypertrophic cardiomyopathy [RCV000629007]|not provided [RCV001796145] Chr14:23416089 [GRCh38]
Chr14:23885298 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4500G>A (p.Arg1500=) single nucleotide variant Cardiomyopathy [RCV001179132]|Cardiovascular phenotype [RCV002331105]|Hypertrophic cardiomyopathy [RCV001503635] Chr14:23417172 [GRCh38]
Chr14:23886381 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.4679G>C (p.Arg1560Pro) single nucleotide variant MYH7-related skeletal myopathy [RCV001807701]|not provided [RCV002274211] Chr14:23416278 [GRCh38]
Chr14:23885487 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|not provided
NM_000257.4(MYH7):c.4815A>G (p.Thr1605=) single nucleotide variant Cardiomyopathy [RCV001804603] Chr14:23416142 [GRCh38]
Chr14:23885351 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4660G>A (p.Glu1554Lys) single nucleotide variant Cardiomyopathy [RCV000774207]|Cardiovascular phenotype [RCV003303178]|Hypertrophic cardiomyopathy [RCV000701678]|not provided [RCV004719962] Chr14:23416297 [GRCh38]
Chr14:23885506 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5011A>G (p.Ile1671Val) single nucleotide variant Cardiomyopathy [RCV001186494]|Cardiovascular phenotype [RCV002343575]|Hypertrophic cardiomyopathy [RCV000707479]|not provided [RCV001766567] Chr14:23415775 [GRCh38]
Chr14:23884984 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4465GAG[3] (p.Glu1490dup) microsatellite Hypertrophic cardiomyopathy [RCV000702835] Chr14:23417201..23417202 [GRCh38]
Chr14:23886410..23886411 [GRCh37]
Chr14:14q11.2		 uncertain significance
NC_000014.8:g.(?_23859246)_(23889463_?)dup duplication Hypertrophic cardiomyopathy [RCV000708203] Chr14:23390037..23420254 [GRCh38]
Chr14:23859246..23889463 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5167C>T (p.Leu1723Phe) single nucleotide variant Hypertrophic cardiomyopathy [RCV000685842] Chr14:23415497 [GRCh38]
Chr14:23884706 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4764C>T (p.Arg1588=) single nucleotide variant Hypertrophic cardiomyopathy [RCV000687380] Chr14:23416193 [GRCh38]
Chr14:23885402 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4667G>A (p.Gly1556Asp) single nucleotide variant Hypertrophic cardiomyopathy [RCV000687609] Chr14:23416290 [GRCh38]
Chr14:23885499 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4822C>T (p.Arg1608Cys) single nucleotide variant Cardiomyopathy [RCV001525309]|Cardiovascular phenotype [RCV004026283]|Hypertrophic cardiomyopathy [RCV000687985]|Primary dilated cardiomyopathy [RCV001293065] Chr14:23416135 [GRCh38]
Chr14:23885344 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4673T>G (p.Ile1558Ser) single nucleotide variant Hypertrophic cardiomyopathy [RCV000702588] Chr14:23416284 [GRCh38]
Chr14:23885493 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln) single nucleotide variant Cardiomyopathy [RCV001186493]|Cardiovascular phenotype [RCV004985096]|Hypertrophic cardiomyopathy 1 [RCV002477636]|Hypertrophic cardiomyopathy [RCV000707612]|not provided [RCV001701153] Chr14:23416182 [GRCh38]
Chr14:23885391 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4484T>C (p.Leu1495Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV000706210] Chr14:23417188 [GRCh38]
Chr14:23886397 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4663G>A (p.Glu1555Lys) single nucleotide variant Cardiomyopathy [RCV003150333]|Hypertrophic cardiomyopathy [RCV000692278] Chr14:23416294 [GRCh38]
Chr14:23885503 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.5190G>T (p.Met1730Ile) single nucleotide variant Atrial fibrillation [RCV000754866]|Hypertrophic cardiomyopathy [RCV005092168] Chr14:23415474 [GRCh38]
Chr14:23884683 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5181G>A (p.Lys1727=) single nucleotide variant Cardiomyopathy [RCV000769435] Chr14:23415483 [GRCh38]
Chr14:23884692 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5158A>G (p.Asn1720Asp) single nucleotide variant Cardiomyopathy [RCV000769437] Chr14:23415506 [GRCh38]
Chr14:23884715 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4519+9G>C single nucleotide variant Hypertrophic cardiomyopathy [RCV002073312]|not provided [RCV001708922] Chr14:23417144 [GRCh38]
Chr14:23886353 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.4651C>T (p.Leu1551=) single nucleotide variant Hypertrophic cardiomyopathy [RCV005094856]|not provided [RCV001648562] Chr14:23416306 [GRCh38]
Chr14:23885515 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.4501G>T (p.Glu1501Ter) single nucleotide variant Primary dilated cardiomyopathy [RCV000853177] Chr14:23417171 [GRCh38]
Chr14:23886380 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5062T>C (p.Leu1688=) single nucleotide variant Cardiomyopathy [RCV001525482]|Cardiovascular phenotype [RCV003303234]|Hypertrophic cardiomyopathy [RCV001457244]|not provided [RCV000761870] Chr14:23415724 [GRCh38]
Chr14:23884933 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5105C>A (p.Ala1702Glu) single nucleotide variant Dilated cardiomyopathy 1S [RCV003315212] Chr14:23415681 [GRCh38]
Chr14:23884890 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5158-57A>T single nucleotide variant not provided [RCV001708872] Chr14:23415563 [GRCh38]
Chr14:23884772 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4353+20C>T single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV002502021]|Hypertrophic cardiomyopathy [RCV002073206]|not provided [RCV001678866] Chr14:23417483 [GRCh38]
Chr14:23886692 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.5127T>C (p.Thr1709=) single nucleotide variant Cardiomyopathy [RCV001183134]|Cardiovascular phenotype [RCV003169200]|Hypertrophic cardiomyopathy [RCV000877028] Chr14:23415659 [GRCh38]
Chr14:23884868 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4536G>A (p.Leu1512=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001453872] Chr14:23416976 [GRCh38]
Chr14:23886185 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5130T>C (p.Ser1710=) single nucleotide variant Cardiomyopathy [RCV001183133]|Cardiovascular phenotype [RCV003169199]|Hypertrophic cardiomyopathy [RCV000877027] Chr14:23415656 [GRCh38]
Chr14:23884865 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4741G>A (p.Glu1581Lys) single nucleotide variant Cardiovascular phenotype [RCV002339280]|Hypertrophic cardiomyopathy [RCV001055895] Chr14:23416216 [GRCh38]
Chr14:23885425 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4301G>C (p.Arg1434Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV001036718] Chr14:23417555 [GRCh38]
Chr14:23886764 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.4261C>A (p.Leu1421Ile) single nucleotide variant not provided [RCV000995147] Chr14:23417595 [GRCh38]
Chr14:23886804 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val) single nucleotide variant Cardiomyopathy [RCV001799031]|Cardiovascular phenotype [RCV005372517]|Hypertrophic cardiomyopathy 1 [RCV002481873]|Hypertrophic cardiomyopathy [RCV001039638] Chr14:23416869 [GRCh38]
Chr14:23886078 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4459G>T (p.Ala1487Ser) single nucleotide variant Cardiomyopathy [RCV004000187]|Hypertrophic cardiomyopathy [RCV001069708] Chr14:23417213 [GRCh38]
Chr14:23886422 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4519+6C>T single nucleotide variant Cardiomyopathy [RCV001188133]|Dilated cardiomyopathy 1S [RCV001112488]|Hypertrophic cardiomyopathy 1 [RCV001113829]|Hypertrophic cardiomyopathy [RCV001047290]|MYH7-related skeletal myopathy [RCV001112489]|Myosin storage myopathy [RCV003320227] Chr14:23417147 [GRCh38]
Chr14:23886356 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4993G>A (p.Asp1665Asn) single nucleotide variant Cardiomyopathy [RCV004000037]|Hypertrophic cardiomyopathy [RCV001050436] Chr14:23415793 [GRCh38]
Chr14:23885002 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4966C>T (p.Gln1656Ter) single nucleotide variant Cardiomyopathy [RCV004000067]|Hypertrophic cardiomyopathy [RCV001054517] Chr14:23415820 [GRCh38]
Chr14:23885029 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4897A>G (p.Asn1633Asp) single nucleotide variant Hypertrophic cardiomyopathy [RCV001058079] Chr14:23416060 [GRCh38]
Chr14:23885269 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=) single nucleotide variant Cardiomyopathy [RCV000769440]|Hypertrophic cardiomyopathy [RCV001398651]|not specified [RCV000780518] Chr14:23415794 [GRCh38]
Chr14:23885003 [GRCh37]
Chr14:14q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4668C>A (p.Gly1556=) single nucleotide variant Cardiomyopathy [RCV000770471]|Cardiovascular phenotype [RCV003166035]|Hypertrophic cardiomyopathy [RCV000865427] Chr14:23416289 [GRCh38]
Chr14:23885498 [GRCh37]
Chr14:14q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4834C>T (p.Leu1612=) single nucleotide variant Cardiomyopathy [RCV000774276]|Hypertrophic cardiomyopathy [RCV002068511] Chr14:23416123 [GRCh38]
Chr14:23885332 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5061G>A (p.Glu1687=) single nucleotide variant Cardiomyopathy [RCV000774473]|Hypertrophic cardiomyopathy [RCV002534145] Chr14:23415725 [GRCh38]
Chr14:23884934 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5190G>C (p.Met1730Ile) single nucleotide variant Cardiomyopathy [RCV000769434] Chr14:23415474 [GRCh38]
Chr14:23884683 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-7T>C single nucleotide variant Cardiomyopathy [RCV000770472] Chr14:23416319 [GRCh38]
Chr14:23885528 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly) single nucleotide variant Cardiomyopathy [RCV000770474]|Hypertrophic cardiomyopathy [RCV001209867]|not provided [RCV001528809] Chr14:23416971 [GRCh38]
Chr14:23886180 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4427C>T (p.Ser1476Phe) single nucleotide variant Cardiomyopathy [RCV000770477]|Hypertrophic cardiomyopathy [RCV002533963]|not provided [RCV005255623] Chr14:23417245 [GRCh38]
Chr14:23886454 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4458C>T (p.Asn1486=) single nucleotide variant Cardiomyopathy [RCV001179467]|Cardiovascular phenotype [RCV002332771]|Hypertrophic cardiomyopathy [RCV001462059]|MYH7-related disorder [RCV004538198]|not provided [RCV003456438]|not specified [RCV005405352] Chr14:23417214 [GRCh38]
Chr14:23886423 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4995C>T (p.Asp1665=) single nucleotide variant Cardiomyopathy [RCV001186031]|Hypertrophic cardiomyopathy [RCV001490016] Chr14:23415791 [GRCh38]
Chr14:23885000 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5013C>T (p.Ile1671=) single nucleotide variant Cardiomyopathy [RCV000769439]|Cardiovascular phenotype [RCV002343619]|Hypertrophic cardiomyopathy [RCV001450165]|not provided [RCV001712747] Chr14:23415773 [GRCh38]
Chr14:23884982 [GRCh37]
Chr14:14q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4454A>G (p.Lys1485Arg) single nucleotide variant Cardiomyopathy [RCV000770476]|Hypertrophic cardiomyopathy [RCV002533962] Chr14:23417218 [GRCh38]
Chr14:23886427 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=) single nucleotide variant Cardiomyopathy [RCV000769436]|Cardiovascular phenotype [RCV004985113]|Hypertrophic cardiomyopathy [RCV001482034] Chr14:23415486 [GRCh38]
Chr14:23884695 [GRCh37]
Chr14:14q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr) single nucleotide variant Cardiomyopathy [RCV003532279]|Cardiovascular phenotype [RCV004639380]|Conduction disorder of the heart [RCV000845472]|Hypertrophic cardiomyopathy 1 [RCV002487807]|Hypertrophic cardiomyopathy [RCV000817363] Chr14:23416201 [GRCh38]
Chr14:23885410 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4630C>A (p.Leu1544Met) single nucleotide variant Hypertrophic cardiomyopathy [RCV000806885] Chr14:23416882 [GRCh38]
Chr14:23886091 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5014G>A (p.Ala1672Thr) single nucleotide variant Cardiomyopathy [RCV001187948]|Cardiovascular phenotype [RCV002336700]|Hypertrophic cardiomyopathy [RCV000819672] Chr14:23415772 [GRCh38]
Chr14:23884981 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4996G>A (p.Asp1666Asn) single nucleotide variant Cardiomyopathy [RCV001188656]|Cardiovascular phenotype [RCV003307421]|Hypertrophic cardiomyopathy [RCV000791531]|not provided [RCV001729704] Chr14:23415790 [GRCh38]
Chr14:23884999 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4354-61A>T single nucleotide variant not provided [RCV000834681] Chr14:23417379 [GRCh38]
Chr14:23886588 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4954-41G>A single nucleotide variant not provided [RCV000834682] Chr14:23415873 [GRCh38]
Chr14:23885082 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4678C>T (p.Arg1560Trp) single nucleotide variant Cardiomyopathy [RCV001524408]|Hypertrophic cardiomyopathy [RCV000819917] Chr14:23416279 [GRCh38]
Chr14:23885488 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4935C>A (p.Ser1645Arg) single nucleotide variant Cardiomyopathy [RCV001183376]|Hypertrophic cardiomyopathy [RCV000791864]|not provided [RCV001759490] Chr14:23416022 [GRCh38]
Chr14:23885231 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-273T>C single nucleotide variant not provided [RCV000840819] Chr14:23416585 [GRCh38]
Chr14:23885794 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV000812647]|MYH7-related skeletal myopathy [RCV001807650]|not provided [RCV004792511] Chr14:23417314 [GRCh38]
Chr14:23886523 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000257.4(MYH7):c.4459G>A (p.Ala1487Thr) single nucleotide variant Cardiomyopathy [RCV001177444]|Cardiovascular phenotype [RCV002332674]|Hypertrophic cardiomyopathy [RCV000813113]|not provided [RCV001577201] Chr14:23417213 [GRCh38]
Chr14:23886422 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4285A>T (p.Met1429Leu) single nucleotide variant not provided [RCV000788802] Chr14:23417571 [GRCh38]
Chr14:23886780 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4347C>G (p.Phe1449Leu) single nucleotide variant Cardiomyopathy [RCV003532272]|Hypertrophic cardiomyopathy [RCV000805875]|MYH7-related disorder [RCV004538104]|not provided [RCV002290449] Chr14:23417509 [GRCh38]
Chr14:23886718 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5158-8C>A single nucleotide variant Hypertrophic cardiomyopathy [RCV000810530] Chr14:23415514 [GRCh38]
Chr14:23884723 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4622A>T (p.Gln1541Leu) single nucleotide variant Autosomal dominant MYH7-related disorder [RCV000984933]|Hypertrophic cardiomyopathy [RCV001869325] Chr14:23416890 [GRCh38]
Chr14:23886099 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5102T>A (p.Leu1701Gln) single nucleotide variant Hypertrophic cardiomyopathy [RCV000812714] Chr14:23415684 [GRCh38]
Chr14:23884893 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-173C>T single nucleotide variant not provided [RCV000831157] Chr14:23416485 [GRCh38]
Chr14:23885694 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4460C>T (p.Ala1487Val) single nucleotide variant Cardiovascular phenotype [RCV002332665]|Hypertrophic cardiomyopathy [RCV000810878]|MYH7-related disorder [RCV004757286] Chr14:23417212 [GRCh38]
Chr14:23886421 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5067T>G (p.Arg1689=) single nucleotide variant Cardiomyopathy [RCV001192172]|Hypertrophic cardiomyopathy [RCV002067494]|not provided [RCV000829253]|not specified [RCV002307634] Chr14:23415719 [GRCh38]
Chr14:23884928 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5079G>A (p.Glu1693=) single nucleotide variant Cardiomyopathy [RCV001192173]|Hypertrophic cardiomyopathy [RCV002067495]|not provided [RCV000829254]|not specified [RCV002307635] Chr14:23415707 [GRCh38]
Chr14:23884916 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp) single nucleotide variant Cardiomyopathy [RCV004001753]|Cardiovascular phenotype [RCV002332679]|Hypertrophic cardiomyopathy 1 [RCV002487778]|Hypertrophic cardiomyopathy [RCV000813630] Chr14:23417232 [GRCh38]
Chr14:23886441 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5070C>T (p.Ala1690=) single nucleotide variant Cardiomyopathy [RCV001181101]|Cardiovascular phenotype [RCV002346089]|Hypertrophic cardiomyopathy [RCV001487109]|MYH7-related disorder [RCV004533540] Chr14:23415716 [GRCh38]
Chr14:23884925 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5087_5088del (p.Glu1696fs) microsatellite Hypertrophic cardiomyopathy [RCV000811989] Chr14:23415698..23415699 [GRCh38]
Chr14:23884907..23884908 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4631T>C (p.Leu1544Pro) single nucleotide variant Congenital myopathy with fiber type disproportion [RCV001197369]|Hypertrophic cardiomyopathy [RCV001859191] Chr14:23416881 [GRCh38]
Chr14:23886090 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4278G>A (p.Glu1426=) single nucleotide variant Cardiomyopathy [RCV001176104]|Hypertrophic cardiomyopathy [RCV003769871] Chr14:23417578 [GRCh38]
Chr14:23886787 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4702A>G (p.Ile1568Val) single nucleotide variant Cardiomyopathy [RCV001182386]|Cardiovascular phenotype [RCV003293938] Chr14:23416255 [GRCh38]
Chr14:23885464 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4553C>A (p.Ser1518Tyr) single nucleotide variant Hypertrophic cardiomyopathy [RCV001223593] Chr14:23416959 [GRCh38]
Chr14:23886168 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-2A>T single nucleotide variant Hypertrophic cardiomyopathy [RCV001222261] Chr14:23416314 [GRCh38]
Chr14:23885523 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4292A>G (p.Asp1431Gly) single nucleotide variant Hypertrophic cardiomyopathy [RCV001242607] Chr14:23417564 [GRCh38]
Chr14:23886773 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4998C>A (p.Asp1666Glu) single nucleotide variant Hypertrophic cardiomyopathy [RCV001238173] Chr14:23415788 [GRCh38]
Chr14:23884997 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4307A>G (p.Asn1436Ser) single nucleotide variant Hypertrophic cardiomyopathy [RCV001227427]|not provided [RCV004822331] Chr14:23417549 [GRCh38]
Chr14:23886758 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4562A>G (p.Lys1521Arg) single nucleotide variant Hypertrophic cardiomyopathy [RCV001225353] Chr14:23416950 [GRCh38]
Chr14:23886159 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4953+5T>C single nucleotide variant Cardiomyopathy [RCV001182746]|Hypertrophic cardiomyopathy [RCV002560829] Chr14:23415999 [GRCh38]
Chr14:23885208 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4746G>C (p.Glu1582Asp) single nucleotide variant Cardiomyopathy [RCV001183107]|Hypertrophic cardiomyopathy [RCV005093866] Chr14:23416211 [GRCh38]
Chr14:23885420 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4890C>T (p.Ser1630=) single nucleotide variant Cardiomyopathy [RCV001170489]|Hypertrophic cardiomyopathy [RCV003748313] Chr14:23416067 [GRCh38]
Chr14:23885276 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4479A>G (p.Glu1493=) single nucleotide variant Cardiomyopathy [RCV001183370] Chr14:23417193 [GRCh38]
Chr14:23886402 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4740C>T (p.Asp1580=) single nucleotide variant Cardiomyopathy [RCV001184143]|Cardiovascular phenotype [RCV002339465]|Hypertrophic cardiomyopathy [RCV001474982]|not provided [RCV004706066] Chr14:23416217 [GRCh38]
Chr14:23885426 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4419G>A (p.Glu1473=) single nucleotide variant Cardiomyopathy [RCV001177664]|Hypertrophic cardiomyopathy [RCV001458128] Chr14:23417253 [GRCh38]
Chr14:23886462 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5173_5175del (p.Asn1725del) deletion Myosin storage myopathy [RCV003320276] Chr14:23415489..23415491 [GRCh38]
Chr14:23884698..23884700 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4353+23A>G single nucleotide variant not provided [RCV001564941] Chr14:23417480 [GRCh38]
Chr14:23886689 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4520-79G>A single nucleotide variant not provided [RCV001575298] Chr14:23417071 [GRCh38]
Chr14:23886280 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4644+190C>T single nucleotide variant not provided [RCV001612014] Chr14:23416678 [GRCh38]
Chr14:23885887 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4477G>T (p.Glu1493Ter) single nucleotide variant Hypertrophic cardiomyopathy [RCV001882672]|not provided [RCV001569065] Chr14:23417195 [GRCh38]
Chr14:23886404 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4644+57C>G single nucleotide variant not provided [RCV001659127] Chr14:23416811 [GRCh38]
Chr14:23886020 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4645-220C>T single nucleotide variant not provided [RCV001561949] Chr14:23416532 [GRCh38]
Chr14:23885741 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4644+80C>T single nucleotide variant not provided [RCV001613674] Chr14:23416788 [GRCh38]
Chr14:23885997 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4327G>A (p.Asp1443Asn) single nucleotide variant not provided [RCV001699895] Chr14:23417529 [GRCh38]
Chr14:23886738 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4823G>A (p.Arg1608His) single nucleotide variant Cardiomyopathy [RCV003486976]|Cardiovascular phenotype [RCV003166774]|Dilated cardiomyopathy 1S [RCV001594458]|Hypertrophic cardiomyopathy [RCV001871757]|not provided [RCV001751594] Chr14:23416134 [GRCh38]
Chr14:23885343 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4644+1del deletion not provided [RCV001616124] Chr14:23416867 [GRCh38]
Chr14:23886076 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4353+8C>A single nucleotide variant Hypertrophic cardiomyopathy [RCV000866576]|not specified [RCV005408026] Chr14:23417495 [GRCh38]
Chr14:23886704 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4815A>T (p.Thr1605=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001490190] Chr14:23416142 [GRCh38]
Chr14:23885351 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4314T>C (p.Ala1438=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001426099] Chr14:23417542 [GRCh38]
Chr14:23886751 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4489A>T (p.Thr1497Ser) single nucleotide variant Cardiomyopathy [RCV001799055]|Hypertrophic cardiomyopathy [RCV001348776]|not provided [RCV001249370] Chr14:23417183 [GRCh38]
Chr14:23886392 [GRCh37]
Chr14:14q11.2		 uncertain significance|not provided
NM_000257.4(MYH7):c.4689G>C (p.Leu1563=) single nucleotide variant Cardiomyopathy [RCV001182775] Chr14:23416268 [GRCh38]
Chr14:23885477 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5129G>C (p.Ser1710Thr) single nucleotide variant Cardiomyopathy [RCV001183104]|Cardiovascular phenotype [RCV002339459]|Hypertrophic cardiomyopathy [RCV001221243] Chr14:23415657 [GRCh38]
Chr14:23884866 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4354-10C>T single nucleotide variant Cardiomyopathy [RCV001183435]|Hypertrophic cardiomyopathy [RCV002559048] Chr14:23417328 [GRCh38]
Chr14:23886537 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4682C>T (p.Ala1561Val) single nucleotide variant Cardiomyopathy [RCV001188315] Chr14:23416275 [GRCh38]
Chr14:23885484 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4531G>A (p.Asp1511Asn) single nucleotide variant Hypertrophic cardiomyopathy [RCV001053440] Chr14:23416981 [GRCh38]
Chr14:23886190 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5087A>G (p.Glu1696Gly) single nucleotide variant Dilated cardiomyopathy 1S [RCV001113644]|Hypertrophic cardiomyopathy 1 [RCV001113642]|MYH7-related skeletal myopathy [RCV001113643]|Myosin storage myopathy [RCV003320238] Chr14:23415699 [GRCh38]
Chr14:23884908 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5113G>T (p.Glu1705Ter) single nucleotide variant Hypertrophic cardiomyopathy [RCV001054928] Chr14:23415673 [GRCh38]
Chr14:23884882 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5189T>C (p.Met1730Thr) single nucleotide variant Cardiomyopathy [RCV001176414]|Hypertrophic cardiomyopathy [RCV001314590] Chr14:23415475 [GRCh38]
Chr14:23884684 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=) single nucleotide variant Cardiomyopathy [RCV001189687]|Cardiovascular phenotype [RCV002339477]|Hypertrophic cardiomyopathy 1 [RCV002504204]|Hypertrophic cardiomyopathy [RCV001418803]|not provided [RCV001712879] Chr14:23416871 [GRCh38]
Chr14:23886080 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.4511A>C (p.Asn1504Thr) single nucleotide variant Cardiomyopathy [RCV001189828] Chr14:23417161 [GRCh38]
Chr14:23886370 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4616A>G (p.Glu1539Gly) single nucleotide variant not provided [RCV003132256]|not specified [RCV001193365] Chr14:23416896 [GRCh38]
Chr14:23886105 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4301G>A (p.Arg1434His) single nucleotide variant Cardiomyopathy [RCV001190332]|Cardiovascular phenotype [RCV005384968]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003106148]|Hypertrophic cardiomyopathy [RCV001349014] Chr14:23417555 [GRCh38]
Chr14:23886764 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4953G>A (p.Lys1651=) single nucleotide variant Cardiomyopathy [RCV001183175] Chr14:23416004 [GRCh38]
Chr14:23885213 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4953+4C>T single nucleotide variant Cardiomyopathy [RCV001191027]|Hypertrophic cardiomyopathy 1 [RCV002491578]|Hypertrophic cardiomyopathy [RCV005094008] Chr14:23416000 [GRCh38]
Chr14:23885209 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5169C>G (p.Leu1723=) single nucleotide variant Cardiomyopathy [RCV001191268]|Cardiovascular phenotype [RCV004986927]|Hypertrophic cardiomyopathy [RCV002559188]|not provided [RCV001532235] Chr14:23415495 [GRCh38]
Chr14:23884704 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr) single nucleotide variant Cardiomyopathy [RCV001186476]|Cardiovascular phenotype [RCV002339472]|Hypertrophic cardiomyopathy 1 [RCV002491549]|Hypertrophic cardiomyopathy [RCV001862934]|See cases [RCV001267836]|not provided [RCV003117820] Chr14:23416063 [GRCh38]
Chr14:23885272 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly) single nucleotide variant Cardiomyopathy [RCV001191466]|Hypertrophic cardiomyopathy 1 [RCV002480637]|Hypertrophic cardiomyopathy [RCV005094013]|not provided [RCV003480981] Chr14:23416138 [GRCh38]
Chr14:23885347 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4729G>A (p.Ala1577Thr) single nucleotide variant Congenital myopathy with fiber type disproportion [RCV001196706] Chr14:23416228 [GRCh38]
Chr14:23885437 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4568T>C (p.Ile1523Thr) single nucleotide variant Cardiomyopathy [RCV001177808] Chr14:23416944 [GRCh38]
Chr14:23886153 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4988C>A (p.Ala1663Asp) single nucleotide variant Cardiomyopathy [RCV001179421]|Hypertrophic cardiomyopathy [RCV003117809] Chr14:23415798 [GRCh38]
Chr14:23885007 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4628C>T (p.Ala1543Val) single nucleotide variant Cardiomyopathy [RCV001186788]|Hypertrophic cardiomyopathy [RCV003586286] Chr14:23416884 [GRCh38]
Chr14:23886093 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5074G>T (p.Val1692Leu) single nucleotide variant Cardiomyopathy [RCV001186824]|Hypertrophic cardiomyopathy [RCV002559952] Chr14:23415712 [GRCh38]
Chr14:23884921 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4757C>G (p.Ala1586Gly) single nucleotide variant Cardiomyopathy [RCV001191765] Chr14:23416200 [GRCh38]
Chr14:23885409 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4360G>A (p.Ala1454Thr) single nucleotide variant Cardiomyopathy [RCV001185505]|Hypertrophic cardiomyopathy [RCV005093919] Chr14:23417312 [GRCh38]
Chr14:23886521 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-196C>T single nucleotide variant not provided [RCV001621084] Chr14:23416508 [GRCh38]
Chr14:23885717 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4681G>T (p.Ala1561Ser) single nucleotide variant Cardiomyopathy [RCV003533275]|Dilated cardiomyopathy 1S [RCV002465032] Chr14:23416276 [GRCh38]
Chr14:23885485 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4644+2del deletion not provided [RCV001620390] Chr14:23416866 [GRCh38]
Chr14:23886075 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4853T>C (p.Met1618Thr) single nucleotide variant Cardiomyopathy [RCV004808109]|Hypertrophic cardiomyopathy [RCV001866268]|not provided [RCV001699773] Chr14:23416104 [GRCh38]
Chr14:23885313 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4644+113G>A single nucleotide variant not provided [RCV001572396] Chr14:23416755 [GRCh38]
Chr14:23885964 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5157+45G>A single nucleotide variant not provided [RCV001652858] Chr14:23415584 [GRCh38]
Chr14:23884793 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4520-63G>A single nucleotide variant Hypertrophic cardiomyopathy [RCV003125892]|not provided [RCV001676886] Chr14:23417055 [GRCh38]
Chr14:23886264 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.5158-12C>T single nucleotide variant Cardiomyopathy [RCV001176855]|Hypertrophic cardiomyopathy [RCV005093774] Chr14:23415518 [GRCh38]
Chr14:23884727 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5105C>G (p.Ala1702Gly) single nucleotide variant Cardiomyopathy [RCV001184169] Chr14:23415681 [GRCh38]
Chr14:23884890 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5119A>T (p.Ile1707Phe) single nucleotide variant Cardiomyopathy [RCV001177387] Chr14:23415667 [GRCh38]
Chr14:23884876 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4629C>T (p.Ala1543=) single nucleotide variant Cardiomyopathy [RCV001187702] Chr14:23416883 [GRCh38]
Chr14:23886092 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4953G>T (p.Lys1651Asn) single nucleotide variant Cardiomyopathy [RCV001180488] Chr14:23416004 [GRCh38]
Chr14:23885213 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4520-11T>C single nucleotide variant Cardiomyopathy [RCV001185082]|Hypertrophic cardiomyopathy [RCV002559077] Chr14:23417003 [GRCh38]
Chr14:23886212 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4953+6C>A single nucleotide variant Dilated cardiomyopathy 1S [RCV001109631]|Hypertrophic cardiomyopathy 1 [RCV001109633]|MYH7-related skeletal myopathy [RCV001109630]|Myosin storage myopathy [RCV003320231] Chr14:23415998 [GRCh38]
Chr14:23885207 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5158-12C>A single nucleotide variant Cardiomyopathy [RCV001188592]|Hypertrophic cardiomyopathy [RCV003748331] Chr14:23415518 [GRCh38]
Chr14:23884727 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4335G>A (p.Lys1445=) single nucleotide variant Cardiomyopathy [RCV001178297]|Hypertrophic cardiomyopathy [RCV001463787] Chr14:23417521 [GRCh38]
Chr14:23886730 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4774C>T (p.Arg1592Trp) single nucleotide variant Cardiomyopathy [RCV001185671]|Hypertrophic cardiomyopathy [RCV002559913]|not provided [RCV001508722] Chr14:23416183 [GRCh38]
Chr14:23885392 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4912G>A (p.Glu1638Lys) single nucleotide variant Cardiomyopathy [RCV001189054]|Hypertrophic cardiomyopathy [RCV001204564] Chr14:23416045 [GRCh38]
Chr14:23885254 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4542G>A (p.Glu1514=) single nucleotide variant Cardiomyopathy [RCV001189457]|Hypertrophic cardiomyopathy [RCV002559164] Chr14:23416970 [GRCh38]
Chr14:23886179 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4872G>A (p.Glu1624=) single nucleotide variant Cardiomyopathy [RCV004000244]|Cardiovascular phenotype [RCV002327394]|Hypertrophic cardiomyopathy 1 [RCV001111933]|Hypertrophic cardiomyopathy [RCV002069807]|MYH7-related skeletal myopathy [RCV001111931]|Myosin storage myopathy [RCV003320234] Chr14:23416085 [GRCh38]
Chr14:23885294 [GRCh37]
Chr14:14q11.2		 benign|likely benign|uncertain significance
NM_000257.4(MYH7):c.4763G>A (p.Arg1588His) single nucleotide variant Cardiomyopathy [RCV001525767]|Cardiovascular phenotype [RCV002339223]|Hypertrophic cardiomyopathy [RCV001044438] Chr14:23416194 [GRCh38]
Chr14:23885403 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4350C>T (p.Asp1450=) single nucleotide variant Cardiomyopathy [RCV001185905] Chr14:23417506 [GRCh38]
Chr14:23886715 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4302C>T (p.Arg1434=) single nucleotide variant Cardiomyopathy [RCV001181694]|Hypertrophic cardiomyopathy [RCV001478001] Chr14:23417554 [GRCh38]
Chr14:23886763 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4932G>A (p.Lys1644=) single nucleotide variant Cardiomyopathy [RCV001178718] Chr14:23416025 [GRCh38]
Chr14:23885234 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4463A>G (p.Tyr1488Cys) single nucleotide variant Cardiomyopathy [RCV001178760]|not specified [RCV002271625] Chr14:23417209 [GRCh38]
Chr14:23886418 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4698C>T (p.Asn1566=) single nucleotide variant Cardiomyopathy [RCV001189620]|Hypertrophic cardiomyopathy [RCV002069077]|not provided [RCV004809033] Chr14:23416259 [GRCh38]
Chr14:23885468 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4954-5C>T single nucleotide variant Cardiomyopathy [RCV001190523]|Hypertrophic cardiomyopathy [RCV001502222]|not provided [RCV001726445]|not specified [RCV001699518] Chr14:23415837 [GRCh38]
Chr14:23885046 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.4520-15G>A single nucleotide variant Cardiomyopathy [RCV001190644]|Hypertrophic cardiomyopathy [RCV002069124]|not provided [RCV001673032] Chr14:23417007 [GRCh38]
Chr14:23886216 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.4677C>A (p.Leu1559=) single nucleotide variant Cardiomyopathy [RCV001175759]|Hypertrophic cardiomyopathy [RCV001416720]|not specified [RCV005236660] Chr14:23416280 [GRCh38]
Chr14:23885489 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4789C>T (p.Leu1597=) single nucleotide variant Cardiomyopathy [RCV001176230] Chr14:23416168 [GRCh38]
Chr14:23885377 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5184G>A (p.Lys1728=) single nucleotide variant Cardiomyopathy [RCV001178541] Chr14:23415480 [GRCh38]
Chr14:23884689 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=) single nucleotide variant Cardiomyopathy [RCV001182979]|Cardiovascular phenotype [RCV003293883]|Dilated cardiomyopathy 1S [RCV001109798]|Hypertrophic cardiomyopathy 1 [RCV001109801]|Hypertrophic cardiomyopathy [RCV002556153]|MYH7-related skeletal myopathy [RCV001109799]|Myosin storage myopathy [RCV003320232] Chr14:23417277 [GRCh38]
Chr14:23886486 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4917C>T (p.Ala1639=) single nucleotide variant Cardiomyopathy [RCV001179513] Chr14:23416040 [GRCh38]
Chr14:23885249 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5106G>T (p.Ala1702=) single nucleotide variant Cardiomyopathy [RCV001180091]|not provided [RCV001673030] Chr14:23415680 [GRCh38]
Chr14:23884889 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_000257.4(MYH7):c.4919A>C (p.Gln1640Pro) single nucleotide variant Cardiomyopathy [RCV001180138] Chr14:23416038 [GRCh38]
Chr14:23885247 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4308T>C (p.Asn1436=) single nucleotide variant Cardiomyopathy [RCV001191689]|Hypertrophic cardiomyopathy [RCV002559198] Chr14:23417548 [GRCh38]
Chr14:23886757 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5137G>A (p.Val1713Met) single nucleotide variant Cardiomyopathy [RCV001170486] Chr14:23415649 [GRCh38]
Chr14:23884858 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4964T>C (p.Ile1655Thr) single nucleotide variant Cardiomyopathy [RCV001192289] Chr14:23415822 [GRCh38]
Chr14:23885031 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-15C>T single nucleotide variant Cardiomyopathy [RCV001176707]|Hypertrophic cardiomyopathy [RCV002067881] Chr14:23416327 [GRCh38]
Chr14:23885536 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5183A>G (p.Lys1728Arg) single nucleotide variant Cardiomyopathy [RCV001184420] Chr14:23415481 [GRCh38]
Chr14:23884690 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4498C>A (p.Arg1500=) single nucleotide variant Cardiomyopathy [RCV001183166]|Hypertrophic cardiomyopathy [RCV001452151] Chr14:23417174 [GRCh38]
Chr14:23886383 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5075_5076delinsAA (p.Val1692Glu) indel Cardiomyopathy [RCV001183534]|Hypertrophic cardiomyopathy [RCV001876103]|not specified [RCV002307693] Chr14:23415710..23415711 [GRCh38]
Chr14:23884919..23884920 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5149C>T (p.His1717Tyr) single nucleotide variant Cardiomyopathy [RCV001179966] Chr14:23415637 [GRCh38]
Chr14:23884846 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4665G>A (p.Glu1555=) single nucleotide variant Cardiomyopathy [RCV001180194]|Hypertrophic cardiomyopathy [RCV001460278] Chr14:23416292 [GRCh38]
Chr14:23885501 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4354-5G>A single nucleotide variant Cardiomyopathy [RCV001176711] Chr14:23417323 [GRCh38]
Chr14:23886532 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4384G>A (p.Glu1462Lys) single nucleotide variant Cardiomyopathy [RCV001176717]|Hypertrophic cardiomyopathy [RCV003769885] Chr14:23417288 [GRCh38]
Chr14:23886497 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4577T>C (p.Leu1526Pro) single nucleotide variant not provided [RCV001092196] Chr14:23416935 [GRCh38]
Chr14:23886144 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4584_4585delinsAT (p.Val1529Phe) indel Cardiomyopathy [RCV001182363] Chr14:23416927..23416928 [GRCh38]
Chr14:23886136..23886137 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5157+45del deletion not provided [RCV001707446] Chr14:23415584 [GRCh38]
Chr14:23884793 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4941G>T (p.Gln1647His) single nucleotide variant Hypertrophic cardiomyopathy [RCV001048683] Chr14:23416016 [GRCh38]
Chr14:23885225 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4520-42A>T single nucleotide variant not provided [RCV001612857] Chr14:23417034 [GRCh38]
Chr14:23886243 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV002551720]|MYH7-related skeletal myopathy [RCV001005009] Chr14:23417221 [GRCh38]
Chr14:23886430 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4532A>T (p.Asp1511Val) single nucleotide variant Dilated cardiomyopathy 1S [RCV003514458]|Hypertrophic cardiomyopathy [RCV001044927] Chr14:23416980 [GRCh38]
Chr14:23886189 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4960C>T (p.Gln1654Ter) single nucleotide variant Hypertrophic cardiomyopathy [RCV001055107] Chr14:23415826 [GRCh38]
Chr14:23885035 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5037C>A (p.Asn1679Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV001062605] Chr14:23415749 [GRCh38]
Chr14:23884958 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4699C>T (p.Gln1567Ter) single nucleotide variant Cardiovascular phenotype [RCV003372978]|Hypertrophic cardiomyopathy [RCV001066184]|Myopathy, myosin storage, autosomal recessive [RCV003228801] Chr14:23416258 [GRCh38]
Chr14:23885467 [GRCh37]
Chr14:14q11.2		 pathogenic|uncertain significance
NM_000257.4(MYH7):c.4762C>T (p.Arg1588Cys) single nucleotide variant Cardiomyopathy [RCV001806051]|Hypertrophic cardiomyopathy [RCV001213343]|not specified [RCV001797828] Chr14:23416195 [GRCh38]
Chr14:23885404 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4394C>T (p.Ser1465Leu) single nucleotide variant Cardiomyopathy [RCV001170992]|Hypertrophic cardiomyopathy [RCV001873577]|not provided [RCV003132249] Chr14:23417278 [GRCh38]
Chr14:23886487 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4646C>G (p.Ala1549Gly) single nucleotide variant Hypertrophic cardiomyopathy [RCV001229769] Chr14:23416311 [GRCh38]
Chr14:23885520 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4817G>C (p.Arg1606Pro) single nucleotide variant Cardiomyopathy [RCV004807281]|Hypertrophic cardiomyopathy [RCV001040784] Chr14:23416140 [GRCh38]
Chr14:23885349 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5111A>G (p.Gln1704Arg) single nucleotide variant Hypertrophic cardiomyopathy [RCV001045761] Chr14:23415675 [GRCh38]
Chr14:23884884 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu) single nucleotide variant Cardiomyopathy [RCV001182154]|Cardiovascular phenotype [RCV002327438]|Hypertrophic cardiomyopathy 1 [RCV002466627]|not provided [RCV002068308]|not specified [RCV004702667] Chr14:23416170 [GRCh38]
Chr14:23885379 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4984C>T (p.Arg1662Cys) single nucleotide variant Cardiomyopathy [RCV003532361]|Cardiovascular phenotype [RCV002339267]|Hypertrophic cardiomyopathy [RCV001052917]|not provided [RCV003130127] Chr14:23415802 [GRCh38]
Chr14:23885011 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4551T>C (p.Gly1517=) single nucleotide variant Cardiomyopathy [RCV001183659]|Cardiovascular phenotype [RCV002339463]|Hypertrophic cardiomyopathy [RCV002559843] Chr14:23416961 [GRCh38]
Chr14:23886170 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4656G>T (p.Glu1552Asp) single nucleotide variant Hypertrophic cardiomyopathy [RCV001056980] Chr14:23416301 [GRCh38]
Chr14:23885510 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5180del (p.Lys1727fs) deletion Hypertrophic cardiomyopathy [RCV001214182] Chr14:23415484 [GRCh38]
Chr14:23884693 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4521G>A (p.Glu1507=) single nucleotide variant Cardiomyopathy [RCV001185650] Chr14:23416991 [GRCh38]
Chr14:23886200 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4308TGC[5] (p.Ala1441dup) microsatellite Hypertrophic cardiomyopathy [RCV001067157] Chr14:23417536..23417537 [GRCh38]
Chr14:23886745..23886746 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4483C>G (p.Leu1495Val) single nucleotide variant Cardiomyopathy [RCV001170990] Chr14:23417189 [GRCh38]
Chr14:23886398 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro) single nucleotide variant Myosin storage myopathy [RCV003320243] Chr14:23415808 [GRCh38]
Chr14:23885017 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4543C>G (p.Gln1515Glu) single nucleotide variant Conduction disorder of the heart [RCV001256693]|Hypertrophic cardiomyopathy [RCV001879960] Chr14:23416969 [GRCh38]
Chr14:23886178 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4285_4287dup (p.Met1429dup) duplication Inborn genetic diseases [RCV001266511] Chr14:23417568..23417569 [GRCh38]
Chr14:23886777..23886778 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4475T>C (p.Leu1492Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV001880156]|not provided [RCV001268030] Chr14:23417197 [GRCh38]
Chr14:23886406 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4808C>T (p.Ala1603Val) single nucleotide variant Primary dilated cardiomyopathy [RCV001293117] Chr14:23416149 [GRCh38]
Chr14:23885358 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5013C>G (p.Ile1671Met) single nucleotide variant Cardiomyopathy [RCV004005153]|Cardiovascular phenotype [RCV002350615]|Hypertrophic cardiomyopathy [RCV001338746] Chr14:23415773 [GRCh38]
Chr14:23884982 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4941G>C (p.Gln1647His) single nucleotide variant Cardiomyopathy [RCV004005180]|Hypertrophic cardiomyopathy [RCV001342534] Chr14:23416016 [GRCh38]
Chr14:23885225 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5032A>C (p.Asn1678His) single nucleotide variant Cardiomyopathy [RCV004005081]|Hypertrophic cardiomyopathy [RCV001315160] Chr14:23415754 [GRCh38]
Chr14:23884963 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5076G>A (p.Val1692=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001350113]|MYH7-related disorder [RCV004531149] Chr14:23415710 [GRCh38]
Chr14:23884919 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4611G>T (p.Lys1537Asn) single nucleotide variant Hypertrophic cardiomyopathy [RCV001319269] Chr14:23416901 [GRCh38]
Chr14:23886110 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4361C>A (p.Ala1454Asp) single nucleotide variant Dilated cardiomyopathy 1S [RCV001329732] Chr14:23417311 [GRCh38]
Chr14:23886520 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4371G>C (p.Lys1457Asn) single nucleotide variant Cardiovascular phenotype [RCV002327665]|Hypertrophic cardiomyopathy [RCV001304248] Chr14:23417301 [GRCh38]
Chr14:23886510 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4325T>C (p.Leu1442Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV001370283] Chr14:23417531 [GRCh38]
Chr14:23886740 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5089C>T (p.Arg1697Trp) single nucleotide variant Cardiomyopathy [RCV004006830]|Hypertrophic cardiomyopathy [RCV001371760]|MYH7-related disorder [RCV004757419]|not provided [RCV003235566] Chr14:23415697 [GRCh38]
Chr14:23884906 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4467G>C (p.Glu1489Asp) single nucleotide variant Hypertrophic cardiomyopathy [RCV001308544]|not provided [RCV003130254] Chr14:23417205 [GRCh38]
Chr14:23886414 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4424G>A (p.Arg1475His) single nucleotide variant Cardiomyopathy [RCV004005176]|Cardiovascular phenotype [RCV004035983]|Hypertrophic cardiomyopathy [RCV001342097]|MYH7-related disorder [RCV004531134]|not specified [RCV003235552] Chr14:23417248 [GRCh38]
Chr14:23886457 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4670A>G (p.Lys1557Arg) single nucleotide variant Hypertrophic cardiomyopathy [RCV001322984] Chr14:23416287 [GRCh38]
Chr14:23885496 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr) indel Cardiovascular phenotype [RCV002329367]|Hypertrophic cardiomyopathy 1 [RCV003447591]|Hypertrophic cardiomyopathy [RCV001363249]|not provided [RCV001751716] Chr14:23417178..23417179 [GRCh38]
Chr14:23886387..23886388 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4429C>A (p.Leu1477Ile) single nucleotide variant Hypertrophic cardiomyopathy [RCV001299322] Chr14:23417243 [GRCh38]
Chr14:23886452 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4306A>G (p.Asn1436Asp) single nucleotide variant Hypertrophic cardiomyopathy [RCV001323393] Chr14:23417550 [GRCh38]
Chr14:23886759 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4973A>G (p.Asp1658Gly) single nucleotide variant Hypertrophic cardiomyopathy [RCV001871781] Chr14:23415813 [GRCh38]
Chr14:23885022 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4300C>G (p.Arg1434Gly) single nucleotide variant Hypertrophic cardiomyopathy [RCV001305598] Chr14:23417556 [GRCh38]
Chr14:23886765 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4587C>A (p.Val1529=) single nucleotide variant Cardiomyopathy [RCV001524176]|Hypertrophic cardiomyopathy [RCV001451103]|not provided [RCV001762685] Chr14:23416925 [GRCh38]
Chr14:23886134 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.5090G>A (p.Arg1697Gln) single nucleotide variant Cardiomyopathy [RCV003532935]|Cardiovascular phenotype [RCV005385022]|Hypertrophic cardiomyopathy [RCV001303763]|not provided [RCV005051888]|not specified [RCV002298926] Chr14:23415696 [GRCh38]
Chr14:23884905 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4981G>A (p.Val1661Ile) single nucleotide variant Cardiomyopathy [RCV001524084]|Hypertrophic cardiomyopathy [RCV003771577]|not provided [RCV004774453] Chr14:23415805 [GRCh38]
Chr14:23885014 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4377G>A (p.Lys1459=) single nucleotide variant Cardiomyopathy [RCV004007115]|Cardiovascular phenotype [RCV002329558]|Hypertrophic cardiomyopathy [RCV001469635] Chr14:23417295 [GRCh38]
Chr14:23886504 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4362C>T (p.Ala1454=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001473040] Chr14:23417310 [GRCh38]
Chr14:23886519 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4635G>A (p.Glu1545=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001462020] Chr14:23416877 [GRCh38]
Chr14:23886086 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5163C>T (p.Thr1721=) single nucleotide variant Cardiomyopathy [RCV003486987]|Cardiovascular phenotype [RCV003375301]|Hypertrophic cardiomyopathy [RCV001441171] Chr14:23415501 [GRCh38]
Chr14:23884710 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4392G>A (p.Gln1464=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001504359] Chr14:23417280 [GRCh38]
Chr14:23886489 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4359G>A (p.Leu1453=) single nucleotide variant Cardiomyopathy [RCV001525662] Chr14:23417313 [GRCh38]
Chr14:23886522 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4593G>A (p.Lys1531=) single nucleotide variant Cardiomyopathy [RCV001525863]|Hypertrophic cardiomyopathy [RCV002070328] Chr14:23416919 [GRCh38]
Chr14:23886128 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4644+9G>T single nucleotide variant Hypertrophic cardiomyopathy [RCV001483301] Chr14:23416859 [GRCh38]
Chr14:23886068 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4512C>T (p.Asn1504=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001459231]|not specified [RCV003317500] Chr14:23417160 [GRCh38]
Chr14:23886369 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4488G>A (p.Glu1496=) single nucleotide variant Cardiomyopathy [RCV001524882] Chr14:23417184 [GRCh38]
Chr14:23886393 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4954-9G>C single nucleotide variant Cardiomyopathy [RCV004007123]|Hypertrophic cardiomyopathy [RCV001472009] Chr14:23415841 [GRCh38]
Chr14:23885050 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4458C>A (p.Asn1486Lys) single nucleotide variant Cardiomyopathy [RCV001525335] Chr14:23417214 [GRCh38]
Chr14:23886423 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4449A>G (p.Lys1483=) single nucleotide variant Cardiomyopathy [RCV001525339]|Hypertrophic cardiomyopathy [RCV005094692]|not provided [RCV003456503] Chr14:23417223 [GRCh38]
Chr14:23886432 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4953+8C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV001453262] Chr14:23415996 [GRCh38]
Chr14:23885205 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4354-15C>T single nucleotide variant Cardiomyopathy [RCV001526010]|Hypertrophic cardiomyopathy [RCV005094703] Chr14:23417333 [GRCh38]
Chr14:23886542 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4645-3del deletion not provided [RCV001541120] Chr14:23416315 [GRCh38]
Chr14:23885524 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4545G>A (p.Gln1515=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001446983] Chr14:23416967 [GRCh38]
Chr14:23886176 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4572T>C (p.His1524=) single nucleotide variant Cardiomyopathy [RCV003532982]|Cardiovascular phenotype [RCV002341941]|Hypertrophic cardiomyopathy [RCV001432260]|MYH7-related disorder [RCV004757436] Chr14:23416940 [GRCh38]
Chr14:23886149 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4524G>C (p.Glu1508Asp) single nucleotide variant Cardiomyopathy [RCV001525061] Chr14:23416988 [GRCh38]
Chr14:23886197 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4948T>C (p.Leu1650=) single nucleotide variant Cardiomyopathy [RCV003532993]|Cardiovascular phenotype [RCV003298844]|Hypertrophic cardiomyopathy [RCV001479924]|not provided [RCV002070284] Chr14:23416009 [GRCh38]
Chr14:23885218 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5157+35A>G single nucleotide variant not provided [RCV001674605] Chr14:23415594 [GRCh38]
Chr14:23884803 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4520-38C>G single nucleotide variant not provided [RCV001618009] Chr14:23417030 [GRCh38]
Chr14:23886239 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4353+9T>G single nucleotide variant not provided [RCV001616707] Chr14:23417494 [GRCh38]
Chr14:23886703 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4606G>A (p.Glu1536Lys) single nucleotide variant Cardiomyopathy [RCV001526290]|Cardiovascular phenotype [RCV002334577] Chr14:23416906 [GRCh38]
Chr14:23886115 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4751A>G (p.Glu1584Gly) single nucleotide variant Cardiomyopathy [RCV001525385] Chr14:23416206 [GRCh38]
Chr14:23885415 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4845G>A (p.Lys1615=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001482118] Chr14:23416112 [GRCh38]
Chr14:23885321 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4977T>C (p.Asp1659=) single nucleotide variant Cardiovascular phenotype [RCV003375284]|Hypertrophic cardiomyopathy [RCV001403701] Chr14:23415809 [GRCh38]
Chr14:23885018 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5001G>A (p.Leu1667=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001400047] Chr14:23415785 [GRCh38]
Chr14:23884994 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4790T>C (p.Leu1597Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV001389062] Chr14:23416167 [GRCh38]
Chr14:23885376 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.4823G>T (p.Arg1608Leu) single nucleotide variant Cardiomyopathy [RCV001524249]|Hypertrophic cardiomyopathy [RCV002568776] Chr14:23416134 [GRCh38]
Chr14:23885343 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5124G>A (p.Glu1708=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001503926] Chr14:23415662 [GRCh38]
Chr14:23884871 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4900C>A (p.Arg1634Ser) single nucleotide variant Hypertrophic cardiomyopathy [RCV001885102]|not provided [RCV001755526] Chr14:23416057 [GRCh38]
Chr14:23885266 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5151T>C (p.His1717=) single nucleotide variant Cardiomyopathy [RCV004807545] Chr14:23415635 [GRCh38]
Chr14:23884844 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4509A>G (p.Lys1503=) single nucleotide variant Cardiomyopathy [RCV004807556] Chr14:23417163 [GRCh38]
Chr14:23886372 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4354-7C>G single nucleotide variant Cardiomyopathy [RCV004009036]|not provided [RCV001758999] Chr14:23417325 [GRCh38]
Chr14:23886534 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4762C>A (p.Arg1588Ser) single nucleotide variant Cardiomyopathy [RCV004009049]|not provided [RCV001777015] Chr14:23416195 [GRCh38]
Chr14:23885404 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5089C>G (p.Arg1697Gly) single nucleotide variant Cardiomyopathy [RCV001799458] Chr14:23415697 [GRCh38]
Chr14:23884906 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4725G>T (p.Lys1575Asn) single nucleotide variant Cardiomyopathy [RCV004009033]|Hypertrophic cardiomyopathy [RCV001868688]|not provided [RCV001774886] Chr14:23416232 [GRCh38]
Chr14:23885441 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5046G>T (p.Gln1682His) single nucleotide variant Cardiomyopathy [RCV001799457] Chr14:23415740 [GRCh38]
Chr14:23884949 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4527C>G (p.Ile1509Met) single nucleotide variant Cardiomyopathy [RCV001799456] Chr14:23416985 [GRCh38]
Chr14:23886194 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5020G>T (p.Val1674Leu) single nucleotide variant Cardiomyopathy [RCV003533031]|Hypertrophic cardiomyopathy [RCV002544322]|not provided [RCV001794736] Chr14:23415766 [GRCh38]
Chr14:23884975 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4457A>G (p.Asn1486Ser) single nucleotide variant Cardiovascular phenotype [RCV002329749]|not provided [RCV001777066] Chr14:23417215 [GRCh38]
Chr14:23886424 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5158-35C>T single nucleotide variant not provided [RCV001753292] Chr14:23415541 [GRCh38]
Chr14:23884750 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5105C>T (p.Ala1702Val) single nucleotide variant Cardiomyopathy [RCV001804471]|Hypertrophic cardiomyopathy [RCV001885267]|not provided [RCV002224091] Chr14:23415681 [GRCh38]
Chr14:23884890 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4530C>T (p.Ser1510=) single nucleotide variant Cardiomyopathy [RCV001805731]|MYH7-related disorder [RCV004542114] Chr14:23416982 [GRCh38]
Chr14:23886191 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4617G>A (p.Glu1539=) single nucleotide variant Cardiomyopathy [RCV001805629] Chr14:23416895 [GRCh38]
Chr14:23886104 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5176C>T (p.Gln1726Ter) single nucleotide variant Cardiomyopathy [RCV004807544] Chr14:23415488 [GRCh38]
Chr14:23884697 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4859G>A (p.Gly1620Glu) single nucleotide variant Cardiomyopathy [RCV004807546] Chr14:23416098 [GRCh38]
Chr14:23885307 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4681del (p.Ala1561fs) deletion Cardiomyopathy [RCV004807548] Chr14:23416276 [GRCh38]
Chr14:23885485 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4524G>T (p.Glu1508Asp) single nucleotide variant Cardiomyopathy [RCV004807551] Chr14:23416988 [GRCh38]
Chr14:23886197 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4519G>A (p.Glu1507Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV004807554] Chr14:23417153 [GRCh38]
Chr14:23886362 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4514T>A (p.Leu1505Gln) single nucleotide variant Cardiomyopathy [RCV004807555] Chr14:23417158 [GRCh38]
Chr14:23886367 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4612A>G (p.Met1538Val) single nucleotide variant Cardiomyopathy [RCV004807549] Chr14:23416900 [GRCh38]
Chr14:23886109 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4520-10C>T single nucleotide variant Cardiomyopathy [RCV004807552] Chr14:23417002 [GRCh38]
Chr14:23886211 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4954-15_4958del deletion not provided [RCV001822125] Chr14:23415828..23415847 [GRCh38]
Chr14:23885037..23885056 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.4565C>T (p.Thr1522Ile) single nucleotide variant Cardiomyopathy [RCV001804684] Chr14:23416947 [GRCh38]
Chr14:23886156 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4870G>A (p.Glu1624Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV001971686] Chr14:23416087 [GRCh38]
Chr14:23885296 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4988C>T (p.Ala1663Val) single nucleotide variant Hypertrophic cardiomyopathy [RCV001970926] Chr14:23415798 [GRCh38]
Chr14:23885007 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4866C>A (p.Leu1622=) single nucleotide variant Hypertrophic cardiomyopathy [RCV001982988] Chr14:23416091 [GRCh38]
Chr14:23885300 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4840G>A (p.Val1614Met) single nucleotide variant Cardiovascular phenotype [RCV002334818]|Hypertrophic cardiomyopathy [RCV001889572] Chr14:23416117 [GRCh38]
Chr14:23885326 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4639G>A (p.Ala1547Thr) single nucleotide variant Hypertrophic cardiomyopathy [RCV001945685] Chr14:23416873 [GRCh38]
Chr14:23886082 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4949T>C (p.Leu1650Ser) single nucleotide variant Hypertrophic cardiomyopathy [RCV001910911]|MYH7-related disorder [RCV004757488] Chr14:23416008 [GRCh38]
Chr14:23885217 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5015C>T (p.Ala1672Val) single nucleotide variant Hypertrophic cardiomyopathy [RCV002003092] Chr14:23415771 [GRCh38]
Chr14:23884980 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4955A>C (p.Asp1652Ala) single nucleotide variant Hypertrophic cardiomyopathy [RCV002040554] Chr14:23415831 [GRCh38]
Chr14:23885040 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=) single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV002507821]|Hypertrophic cardiomyopathy [RCV002024484] Chr14:23417211 [GRCh38]
Chr14:23886420 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4435A>G (p.Thr1479Ala) single nucleotide variant Cardiomyopathy [RCV004011133]|Hypertrophic cardiomyopathy [RCV002043070] Chr14:23417237 [GRCh38]
Chr14:23886446 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5059G>T (p.Glu1687Ter) single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV005397206]|Hypertrophic cardiomyopathy [RCV001983260] Chr14:23415727 [GRCh38]
Chr14:23884936 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4506del (p.Asn1502fs) deletion Hypertrophic cardiomyopathy [RCV002017589] Chr14:23417166 [GRCh38]
Chr14:23886375 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4364A>G (p.Glu1455Gly) single nucleotide variant Hypertrophic cardiomyopathy [RCV001877643] Chr14:23417308 [GRCh38]
Chr14:23886517 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4729G>T (p.Ala1577Ser) single nucleotide variant Hypertrophic cardiomyopathy [RCV001960363] Chr14:23416228 [GRCh38]
Chr14:23885437 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4354-16C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV001960551] Chr14:23417334 [GRCh38]
Chr14:23886543 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4343A>G (p.Asn1448Ser) single nucleotide variant Cardiomyopathy [RCV004010843]|Hypertrophic cardiomyopathy [RCV001918585]|not provided [RCV005057771] Chr14:23417513 [GRCh38]
Chr14:23886722 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4409C>T (p.Ser1470Leu) single nucleotide variant Cardiomyopathy [RCV004808172]|Hypertrophic cardiomyopathy [RCV001992600] Chr14:23417263 [GRCh38]
Chr14:23886472 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4381G>A (p.Glu1461Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV001974183] Chr14:23417291 [GRCh38]
Chr14:23886500 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5011A>C (p.Ile1671Leu) single nucleotide variant Hypertrophic cardiomyopathy [RCV001974421] Chr14:23415775 [GRCh38]
Chr14:23884984 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4526T>A (p.Ile1509Asn) single nucleotide variant Hypertrophic cardiomyopathy [RCV002030258] Chr14:23416986 [GRCh38]
Chr14:23886195 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5204C>T (p.Ser1735Phe) single nucleotide variant Hypertrophic cardiomyopathy [RCV001957897] Chr14:23415460 [GRCh38]
Chr14:23884669 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4382A>G (p.Glu1461Gly) single nucleotide variant Cardiovascular phenotype [RCV003375382]|Hypertrophic cardiomyopathy [RCV001934745] Chr14:23417290 [GRCh38]
Chr14:23886499 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5077G>A (p.Glu1693Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV001993430] Chr14:23415709 [GRCh38]
Chr14:23884918 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4802T>C (p.Leu1601Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV001922847]|not provided [RCV003130586] Chr14:23416155 [GRCh38]
Chr14:23885364 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4721G>C (p.Arg1574Pro) single nucleotide variant Cardiovascular phenotype [RCV005405768]|Hypertrophic cardiomyopathy [RCV001899417] Chr14:23416236 [GRCh38]
Chr14:23885445 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4991A>G (p.Asn1664Ser) single nucleotide variant Cardiomyopathy [RCV003533056]|Hypertrophic cardiomyopathy [RCV001952003] Chr14:23415795 [GRCh38]
Chr14:23885004 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4954-15T>C single nucleotide variant Hypertrophic cardiomyopathy [RCV001994834] Chr14:23415847 [GRCh38]
Chr14:23885056 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4327G>C (p.Asp1443His) single nucleotide variant Hypertrophic cardiomyopathy [RCV001919784]|not provided [RCV003130584] Chr14:23417529 [GRCh38]
Chr14:23886738 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5021T>A (p.Val1674Glu) single nucleotide variant Hypertrophic cardiomyopathy [RCV001884240] Chr14:23415765 [GRCh38]
Chr14:23884974 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5157+6C>G single nucleotide variant Hypertrophic cardiomyopathy [RCV002047780] Chr14:23415623 [GRCh38]
Chr14:23884832 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys) single nucleotide variant Cardiovascular phenotype [RCV002334812]|Hypertrophic cardiomyopathy 1 [RCV002478257]|Hypertrophic cardiomyopathy [RCV001875735]|not provided [RCV003327530] Chr14:23415749 [GRCh38]
Chr14:23884958 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4970T>C (p.Leu1657Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV002046609] Chr14:23415816 [GRCh38]
Chr14:23885025 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4519+3G>T single nucleotide variant Hypertrophic cardiomyopathy [RCV001957254] Chr14:23417150 [GRCh38]
Chr14:23886359 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4793A>C (p.Gln1598Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV001998694] Chr14:23416164 [GRCh38]
Chr14:23885373 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.4520-2del deletion Hypertrophic cardiomyopathy [RCV001882352] Chr14:23416994 [GRCh38]
Chr14:23886203 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4894G>C (p.Ala1632Pro) single nucleotide variant Cardiomyopathy [RCV004011148]|Hypertrophic cardiomyopathy [RCV002026376] Chr14:23416063 [GRCh38]
Chr14:23885272 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4644+2TG[7] microsatellite Hypertrophic cardiomyopathy [RCV002108782]|not specified [RCV004700647] Chr14:23416854..23416855 [GRCh38]
Chr14:23886063..23886064 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5205C>T (p.Ser1735=) single nucleotide variant Cardiovascular phenotype [RCV004982875]|Hypertrophic cardiomyopathy [RCV002092518] Chr14:23415459 [GRCh38]
Chr14:23884668 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4323C>A (p.Ala1441=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002209517] Chr14:23417533 [GRCh38]
Chr14:23886742 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4809A>G (p.Ala1603=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002107998]|not provided [RCV004704749] Chr14:23416148 [GRCh38]
Chr14:23885357 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4645-15C>G single nucleotide variant Hypertrophic cardiomyopathy [RCV002145449] Chr14:23416327 [GRCh38]
Chr14:23885536 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5118G>A (p.Leu1706=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002145972] Chr14:23415668 [GRCh38]
Chr14:23884877 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4857A>G (p.Glu1619=) single nucleotide variant Cardiovascular phenotype [RCV004982905]|Hypertrophic cardiomyopathy [RCV002109512]|not provided [RCV004706343] Chr14:23416100 [GRCh38]
Chr14:23885309 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4954-19C>A single nucleotide variant Hypertrophic cardiomyopathy [RCV002166034] Chr14:23415851 [GRCh38]
Chr14:23885060 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5097G>C (p.Arg1699=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002192175] Chr14:23415689 [GRCh38]
Chr14:23884898 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4353+18G>T single nucleotide variant Hypertrophic cardiomyopathy [RCV002195724] Chr14:23417485 [GRCh38]
Chr14:23886694 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4674C>T (p.Ile1558=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002094421] Chr14:23416283 [GRCh38]
Chr14:23885492 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4953+20T>A single nucleotide variant Hypertrophic cardiomyopathy [RCV002209958] Chr14:23415984 [GRCh38]
Chr14:23885193 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4519+8G>A single nucleotide variant Hypertrophic cardiomyopathy [RCV002114295] Chr14:23417145 [GRCh38]
Chr14:23886354 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4353+18del deletion Hypertrophic cardiomyopathy [RCV002132225] Chr14:23417485 [GRCh38]
Chr14:23886694 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.5146C>T (p.Leu1716=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002212447] Chr14:23415640 [GRCh38]
Chr14:23884849 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4581G>A (p.Glu1527=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002157341]|not provided [RCV003886553] Chr14:23416931 [GRCh38]
Chr14:23886140 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4680G>C (p.Arg1560=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002137415] Chr14:23416277 [GRCh38]
Chr14:23885486 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4354-20T>A single nucleotide variant Hypertrophic cardiomyopathy [RCV002177777] Chr14:23417338 [GRCh38]
Chr14:23886547 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4389G>T (p.Ser1463=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002156724] Chr14:23417283 [GRCh38]
Chr14:23886492 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4953+14G>A single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV002500223]|Hypertrophic cardiomyopathy [RCV002118968] Chr14:23415990 [GRCh38]
Chr14:23885199 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4686G>A (p.Gln1562=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002197798] Chr14:23416271 [GRCh38]
Chr14:23885480 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4629C>A (p.Ala1543=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002197803] Chr14:23416883 [GRCh38]
Chr14:23886092 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4353+3G>T single nucleotide variant Cardiomyopathy [RCV004011196]|Hypertrophic cardiomyopathy [RCV002154666] Chr14:23417500 [GRCh38]
Chr14:23886709 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4407C>T (p.Ser1469=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002136257] Chr14:23417265 [GRCh38]
Chr14:23886474 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5157+12C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV002122308] Chr14:23415617 [GRCh38]
Chr14:23884826 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4584G>A (p.Lys1528=) single nucleotide variant Cardiomyopathy [RCV004808230]|Cardiovascular phenotype [RCV002337401]|Hypertrophic cardiomyopathy [RCV002201195] Chr14:23416928 [GRCh38]
Chr14:23886137 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4353+11G>T single nucleotide variant Hypertrophic cardiomyopathy [RCV002143837] Chr14:23417492 [GRCh38]
Chr14:23886701 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4953+9C>G single nucleotide variant Hypertrophic cardiomyopathy [RCV002157573] Chr14:23415995 [GRCh38]
Chr14:23885204 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4860A>G (p.Gly1620=) single nucleotide variant Cardiomyopathy [RCV004011216]|Cardiovascular phenotype [RCV005375038]|Hypertrophic cardiomyopathy [RCV002182565] Chr14:23416097 [GRCh38]
Chr14:23885306 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5157+10T>A single nucleotide variant Hypertrophic cardiomyopathy [RCV002141006] Chr14:23415619 [GRCh38]
Chr14:23884828 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4644+15A>C single nucleotide variant Hypertrophic cardiomyopathy [RCV002203804] Chr14:23416853 [GRCh38]
Chr14:23886062 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4351A>G (p.Lys1451Glu) single nucleotide variant Cardiomyopathy [RCV004808465]|Primary dilated cardiomyopathy [RCV003233318] Chr14:23417505 [GRCh38]
Chr14:23886714 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4322_4324dup (p.Ala1441_Leu1442insPro) duplication not provided [RCV002261962] Chr14:23417531..23417532 [GRCh38]
Chr14:23886740..23886741 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4691A>C (p.Glu1564Ala) single nucleotide variant Myosin storage myopathy [RCV003320268] Chr14:23416266 [GRCh38]
Chr14:23885475 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4798T>C (p.Ser1600Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV002296992] Chr14:23416159 [GRCh38]
Chr14:23885368 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4799C>T (p.Ser1600Phe) single nucleotide variant not provided [RCV002291967] Chr14:23416158 [GRCh38]
Chr14:23885367 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4911C>G (p.Ala1637=) single nucleotide variant Cardiomyopathy [RCV004808274]|Cardiovascular phenotype [RCV002351219]|Hypertrophic cardiomyopathy [RCV005096695] Chr14:23416046 [GRCh38]
Chr14:23885255 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4585G>T (p.Val1529Phe) single nucleotide variant Cardiomyopathy [RCV004808268]|Cardiovascular phenotype [RCV002342237] Chr14:23416927 [GRCh38]
Chr14:23886136 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5168T>C (p.Leu1723Pro) single nucleotide variant Myosin storage myopathy [RCV004587628] Chr14:23415496 [GRCh38]
Chr14:23884705 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.4519+1G>A single nucleotide variant Cardiovascular phenotype [RCV002339965] Chr14:23417152 [GRCh38]
Chr14:23886361 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4271A>T (p.Glu1424Val) single nucleotide variant Hypertrophic cardiomyopathy [RCV002302060] Chr14:23417585 [GRCh38]
Chr14:23886794 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5157+4del deletion Cardiovascular phenotype [RCV002338285]|Hypertrophic cardiomyopathy [RCV003748398] Chr14:23415625 [GRCh38]
Chr14:23884834 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4440G>A (p.Glu1480=) single nucleotide variant Cardiovascular phenotype [RCV002328278] Chr14:23417232 [GRCh38]
Chr14:23886441 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5202G>C (p.Leu1734=) single nucleotide variant Cardiomyopathy [RCV004005686]|Cardiovascular phenotype [RCV002338634]|Hypertrophic cardiomyopathy [RCV003748399] Chr14:23415462 [GRCh38]
Chr14:23884671 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4954-5del deletion Cardiovascular phenotype [RCV002342746] Chr14:23415837 [GRCh38]
Chr14:23885046 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4588C>A (p.Arg1530=) single nucleotide variant Cardiovascular phenotype [RCV002342248]|Hypertrophic cardiomyopathy [RCV003586341] Chr14:23416924 [GRCh38]
Chr14:23886133 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4960del (p.Gln1654fs) deletion Cardiovascular phenotype [RCV002342798] Chr14:23415826 [GRCh38]
Chr14:23885035 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5091G>A (p.Arg1697=) single nucleotide variant Cardiovascular phenotype [RCV002335941]|Hypertrophic cardiomyopathy [RCV003120930] Chr14:23415695 [GRCh38]
Chr14:23884904 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4899C>A (p.Asn1633Lys) single nucleotide variant Cardiovascular phenotype [RCV002340573] Chr14:23416058 [GRCh38]
Chr14:23885267 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4642G>A (p.Glu1548Lys) single nucleotide variant Cardiovascular phenotype [RCV002342620]|Hypertrophic cardiomyopathy 1 [RCV004785597]|Hypertrophic cardiomyopathy [RCV005096616] Chr14:23416870 [GRCh38]
Chr14:23886079 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4464T>C (p.Tyr1488=) single nucleotide variant Cardiomyopathy [RCV004005661]|Cardiovascular phenotype [RCV002328438]|Hypertrophic cardiomyopathy [RCV003748391] Chr14:23417208 [GRCh38]
Chr14:23886417 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4653_4655delinsCCTCCT (p.Glu1552delinsLeuLeu) indel Cardiovascular phenotype [RCV002335078] Chr14:23416302..23416304 [GRCh38]
Chr14:23885511..23885513 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4469A>G (p.Glu1490Gly) single nucleotide variant Cardiovascular phenotype [RCV002328458] Chr14:23417203 [GRCh38]
Chr14:23886412 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4752A>G (p.Glu1584=) single nucleotide variant Cardiovascular phenotype [RCV002330630] Chr14:23416205 [GRCh38]
Chr14:23885414 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4491C>T (p.Thr1497=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002776439] Chr14:23417181 [GRCh38]
Chr14:23886390 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4353+20_4353+29del deletion Hypertrophic cardiomyopathy [RCV002903474] Chr14:23417474..23417483 [GRCh38]
Chr14:23886683..23886692 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5147T>C (p.Leu1716Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV002908519] Chr14:23415639 [GRCh38]
Chr14:23884848 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5132A>G (p.Glu1711Gly) single nucleotide variant Cardiomyopathy [RCV004808370]|Hypertrophic cardiomyopathy [RCV002776215]|not provided [RCV003134499] Chr14:23415654 [GRCh38]
Chr14:23884863 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5143C>G (p.Leu1715Val) single nucleotide variant Hypertrophic cardiomyopathy [RCV003033242] Chr14:23415643 [GRCh38]
Chr14:23884852 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4279G>A (p.Asp1427Asn) single nucleotide variant Cardiovascular phenotype [RCV004102960]|Hypertrophic cardiomyopathy [RCV005099605] Chr14:23417577 [GRCh38]
Chr14:23886786 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4953+15G>T single nucleotide variant Hypertrophic cardiomyopathy [RCV002571596]|not specified [RCV002510324] Chr14:23415989 [GRCh38]
Chr14:23885198 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4353+12G>A single nucleotide variant Hypertrophic cardiomyopathy [RCV002755596] Chr14:23417491 [GRCh38]
Chr14:23886700 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4317T>C (p.Ala1439=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002620084] Chr14:23417539 [GRCh38]
Chr14:23886748 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4846A>G (p.Lys1616Glu) single nucleotide variant Hypertrophic cardiomyopathy [RCV002927410] Chr14:23416111 [GRCh38]
Chr14:23885320 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4372C>G (p.Gln1458Glu) single nucleotide variant Hypertrophic cardiomyopathy [RCV002927525] Chr14:23417300 [GRCh38]
Chr14:23886509 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5208G>A (p.Gln1736=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003003050] Chr14:23415456 [GRCh38]
Chr14:23884665 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4644+5G>T single nucleotide variant Cardiomyopathy [RCV004808362]|Hypertrophic cardiomyopathy [RCV002593430] Chr14:23416863 [GRCh38]
Chr14:23886072 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4644+8T>C single nucleotide variant Hypertrophic cardiomyopathy [RCV002825459] Chr14:23416860 [GRCh38]
Chr14:23886069 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4279G>T (p.Asp1427Tyr) single nucleotide variant Hypertrophic cardiomyopathy [RCV002923460]|not provided [RCV004801257] Chr14:23417577 [GRCh38]
Chr14:23886786 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4520-4A>G single nucleotide variant Hypertrophic cardiomyopathy [RCV002923127] Chr14:23416996 [GRCh38]
Chr14:23886205 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4311T>G (p.Ala1437=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002620085] Chr14:23417545 [GRCh38]
Chr14:23886754 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4954-8A>C single nucleotide variant Hypertrophic cardiomyopathy [RCV002785401] Chr14:23415840 [GRCh38]
Chr14:23885049 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4396G>T (p.Glu1466Ter) single nucleotide variant Cardiomyopathy [RCV003533362]|Hypertrophic cardiomyopathy [RCV002638167] Chr14:23417276 [GRCh38]
Chr14:23886485 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5066G>C (p.Arg1689Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV002797205] Chr14:23415720 [GRCh38]
Chr14:23884929 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4894G>T (p.Ala1632Ser) single nucleotide variant Hypertrophic cardiomyopathy [RCV003018616] Chr14:23416063 [GRCh38]
Chr14:23885272 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4357C>G (p.Leu1453Val) single nucleotide variant Hypertrophic cardiomyopathy [RCV002927186] Chr14:23417315 [GRCh38]
Chr14:23886524 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4326G>C (p.Leu1442=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002620082] Chr14:23417530 [GRCh38]
Chr14:23886739 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4320A>C (p.Ala1440=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002620083] Chr14:23417536 [GRCh38]
Chr14:23886745 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4780G>A (p.Val1594Met) single nucleotide variant Hypertrophic cardiomyopathy [RCV002823794] Chr14:23416177 [GRCh38]
Chr14:23885386 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4352A>C (p.Lys1451Thr) single nucleotide variant Hypertrophic cardiomyopathy [RCV003023550] Chr14:23417504 [GRCh38]
Chr14:23886713 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5104_5118del (p.Ala1702_Leu1706del) deletion Hypertrophic cardiomyopathy [RCV002801143] Chr14:23415668..23415682 [GRCh38]
Chr14:23884877..23884891 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4476G>A (p.Leu1492=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002765971] Chr14:23417196 [GRCh38]
Chr14:23886405 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5157+4A>G single nucleotide variant Hypertrophic cardiomyopathy [RCV003058428] Chr14:23415625 [GRCh38]
Chr14:23884834 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4953+11del deletion Hypertrophic cardiomyopathy [RCV002801005] Chr14:23415993 [GRCh38]
Chr14:23885202 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4644+11_4644+12delinsAG indel Hypertrophic cardiomyopathy [RCV003056600] Chr14:23416856..23416857 [GRCh38]
Chr14:23886065..23886066 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4330AAG[1] (p.Lys1445del) microsatellite Hypertrophic cardiomyopathy [RCV002828828] Chr14:23417521..23417523 [GRCh38]
Chr14:23886730..23886732 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-18C>A single nucleotide variant Hypertrophic cardiomyopathy [RCV002890099] Chr14:23416330 [GRCh38]
Chr14:23885539 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4354-4G>A single nucleotide variant Hypertrophic cardiomyopathy [RCV002829401] Chr14:23417322 [GRCh38]
Chr14:23886531 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4735_4737del (p.Lys1579del) deletion Hypertrophic cardiomyopathy [RCV002915058] Chr14:23416220..23416222 [GRCh38]
Chr14:23885429..23885431 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4320A>G (p.Ala1440=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002675635] Chr14:23417536 [GRCh38]
Chr14:23886745 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5158-10C>T single nucleotide variant Cardiomyopathy [RCV003533364]|Hypertrophic cardiomyopathy [RCV002647910] Chr14:23415516 [GRCh38]
Chr14:23884725 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5080del (p.Gln1694fs) deletion Hypertrophic cardiomyopathy [RCV003028749] Chr14:23415706 [GRCh38]
Chr14:23884915 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4453A>C (p.Lys1485Gln) single nucleotide variant Hypertrophic cardiomyopathy [RCV002714857] Chr14:23417219 [GRCh38]
Chr14:23886428 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4954-4T>C single nucleotide variant Hypertrophic cardiomyopathy [RCV002649566] Chr14:23415836 [GRCh38]
Chr14:23885045 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4404G>A (p.Glu1468=) single nucleotide variant Cardiomyopathy [RCV004007505]|Hypertrophic cardiomyopathy [RCV002630105] Chr14:23417268 [GRCh38]
Chr14:23886477 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_000257.4(MYH7):c.4312G>C (p.Ala1438Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV002938926] Chr14:23417544 [GRCh38]
Chr14:23886753 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4987G>A (p.Ala1663Thr) single nucleotide variant Hypertrophic cardiomyopathy [RCV002601577] Chr14:23415799 [GRCh38]
Chr14:23885008 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4653G>C (p.Leu1551=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002811587] Chr14:23416304 [GRCh38]
Chr14:23885513 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4353+16G>A single nucleotide variant Hypertrophic cardiomyopathy [RCV002877060] Chr14:23417487 [GRCh38]
Chr14:23886696 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5016C>G (p.Ala1672=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002833406] Chr14:23415770 [GRCh38]
Chr14:23884979 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4524G>A (p.Glu1508=) single nucleotide variant Hypertrophic cardiomyopathy [RCV002651121] Chr14:23416988 [GRCh38]
Chr14:23886197 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4844AGA[4] (p.Lys1617_Met1618insLys) microsatellite Hypertrophic cardiomyopathy [RCV003060561] Chr14:23416104..23416105 [GRCh38]
Chr14:23885313..23885314 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4652T>C (p.Leu1551Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV002635364] Chr14:23416305 [GRCh38]
Chr14:23885514 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4520-17C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV003066931] Chr14:23417009 [GRCh38]
Chr14:23886218 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4815_4816del (p.Arg1606fs) microsatellite Hypertrophic cardiomyopathy [RCV002610967] Chr14:23416141..23416142 [GRCh38]
Chr14:23885350..23885351 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4486G>A (p.Glu1496Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV003072404] Chr14:23417186 [GRCh38]
Chr14:23886395 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.4981G>C (p.Val1661Leu) single nucleotide variant Hypertrophic cardiomyopathy [RCV002586251] Chr14:23415805 [GRCh38]
Chr14:23885014 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4547T>A (p.Leu1516Ter) single nucleotide variant not provided [RCV003132775] Chr14:23416965 [GRCh38]
Chr14:23886174 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4555A>G (p.Ser1519Gly) single nucleotide variant not provided [RCV003132770] Chr14:23416957 [GRCh38]
Chr14:23886166 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4837A>C (p.Arg1613=) single nucleotide variant Cardiovascular phenotype [RCV003216444] Chr14:23416120 [GRCh38]
Chr14:23885329 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4863C>T (p.Asp1621=) single nucleotide variant Cardiovascular phenotype [RCV003168158] Chr14:23416094 [GRCh38]
Chr14:23885303 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5201T>G (p.Leu1734Arg) single nucleotide variant not provided [RCV003131645] Chr14:23415463 [GRCh38]
Chr14:23884672 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4700A>C (p.Gln1567Pro) single nucleotide variant not provided [RCV003132783] Chr14:23416257 [GRCh38]
Chr14:23885466 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5194G>C (p.Ala1732Pro) single nucleotide variant not provided [RCV003132776] Chr14:23415470 [GRCh38]
Chr14:23884679 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4532A>G (p.Asp1511Gly) single nucleotide variant Cardiovascular phenotype [RCV003176771] Chr14:23416980 [GRCh38]
Chr14:23886189 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4944C>T (p.Ser1648=) single nucleotide variant Cardiovascular phenotype [RCV003176773] Chr14:23416013 [GRCh38]
Chr14:23885222 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5158-16C>G single nucleotide variant Myosin storage myopathy [RCV003320280] Chr14:23415522 [GRCh38]
Chr14:23884731 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.4945T>A (p.Leu1649Met) single nucleotide variant Cardiomyopathy [RCV004808477]|not specified [RCV003324329] Chr14:23416012 [GRCh38]
Chr14:23885221 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4506C>A (p.Asn1502Lys) single nucleotide variant not provided [RCV003328841] Chr14:23417166 [GRCh38]
Chr14:23886375 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4496A>G (p.Lys1499Arg) single nucleotide variant Cardiovascular phenotype [RCV003380075] Chr14:23417176 [GRCh38]
Chr14:23886385 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-1G>C single nucleotide variant Cardiovascular phenotype [RCV003380073] Chr14:23416313 [GRCh38]
Chr14:23885522 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4876G>A (p.Glu1626Lys) single nucleotide variant Cardiovascular phenotype [RCV003380076] Chr14:23416081 [GRCh38]
Chr14:23885290 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4954-19C>G single nucleotide variant Hypertrophic cardiomyopathy [RCV003872709] Chr14:23415851 [GRCh38]
Chr14:23885060 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4286T>C (p.Met1429Thr) single nucleotide variant Cardiomyopathy [RCV004011311]|Hypertrophic cardiomyopathy [RCV003748494]|not provided [RCV003424961] Chr14:23417570 [GRCh38]
Chr14:23886779 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4380T>C (p.Tyr1460=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003748954] Chr14:23417292 [GRCh38]
Chr14:23886501 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro) single nucleotide variant Dilated cardiomyopathy 1S [RCV003455828]|Hypertrophic cardiomyopathy 1 [RCV003455829]|Hypertrophic cardiomyopathy [RCV005100112]|MYH7-related skeletal myopathy [RCV003456315]|Myopathy, myosin storage, autosomal recessive [RCV003456316] Chr14:23417547 [GRCh38]
Chr14:23886756 [GRCh37]
Chr14:14q11.2		 pathogenic|likely pathogenic
NM_000257.4(MYH7):c.4521G>C (p.Glu1507Asp) single nucleotide variant Cardiomyopathy [RCV004805621]|Hypertrophic cardiomyopathy [RCV003831740] Chr14:23416991 [GRCh38]
Chr14:23886200 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4818C>A (p.Arg1606=) single nucleotide variant Cardiomyopathy [RCV003532657]|Hypertrophic cardiomyopathy [RCV003779325] Chr14:23416139 [GRCh38]
Chr14:23885348 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4493T>A (p.Phe1498Tyr) single nucleotide variant Cardiomyopathy [RCV004011341]|not provided [RCV003488085] Chr14:23417179 [GRCh38]
Chr14:23886388 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4953+13A>G single nucleotide variant Hypertrophic cardiomyopathy [RCV003880011] Chr14:23415991 [GRCh38]
Chr14:23885200 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4697A>G (p.Asn1566Ser) single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV004787005]|Hypertrophic cardiomyopathy [RCV003749048] Chr14:23416260 [GRCh38]
Chr14:23885469 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4954-16C>G single nucleotide variant Hypertrophic cardiomyopathy [RCV003749321] Chr14:23415848 [GRCh38]
Chr14:23885057 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4519+16A>C single nucleotide variant Hypertrophic cardiomyopathy [RCV003749527] Chr14:23417137 [GRCh38]
Chr14:23886346 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4879A>C (p.Ile1627Leu) single nucleotide variant Cardiomyopathy [RCV003532656] Chr14:23416078 [GRCh38]
Chr14:23885287 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5185A>C (p.Lys1729Gln) single nucleotide variant Cardiomyopathy [RCV004807543]|Hypertrophic cardiomyopathy [RCV005105215] Chr14:23415479 [GRCh38]
Chr14:23884688 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4378T>C (p.Tyr1460His) single nucleotide variant Cardiomyopathy [RCV004807559] Chr14:23417294 [GRCh38]
Chr14:23886503 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5157+15T>C single nucleotide variant Hypertrophic cardiomyopathy [RCV003748949] Chr14:23415614 [GRCh38]
Chr14:23884823 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4954-6C>G single nucleotide variant Hypertrophic cardiomyopathy [RCV003835512] Chr14:23415838 [GRCh38]
Chr14:23885047 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5064G>A (p.Leu1688=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003750089] Chr14:23415722 [GRCh38]
Chr14:23884931 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4564A>G (p.Thr1522Ala) single nucleotide variant Hypertrophic cardiomyopathy [RCV003750228] Chr14:23416948 [GRCh38]
Chr14:23886157 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4701G>C (p.Gln1567His) single nucleotide variant Cardiomyopathy [RCV003532660]|not provided [RCV004723392] Chr14:23416256 [GRCh38]
Chr14:23885465 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4831G>A (p.Ala1611Thr) single nucleotide variant Hypertrophic cardiomyopathy [RCV003749287] Chr14:23416126 [GRCh38]
Chr14:23885335 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-1G>A single nucleotide variant Cardiomyopathy [RCV004011676]|Hypertrophic cardiomyopathy [RCV003749364] Chr14:23416313 [GRCh38]
Chr14:23885522 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4816C>G (p.Arg1606Gly) single nucleotide variant Cardiomyopathy [RCV004805614]|Hypertrophic cardiomyopathy [RCV003812033] Chr14:23416141 [GRCh38]
Chr14:23885350 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5083A>G (p.Thr1695Ala) single nucleotide variant Cardiomyopathy [RCV004011706]|Hypertrophic cardiomyopathy [RCV003750020] Chr14:23415703 [GRCh38]
Chr14:23884912 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4716C>A (p.Ile1572=) single nucleotide variant Cardiomyopathy [RCV003532658] Chr14:23416241 [GRCh38]
Chr14:23885450 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4708G>A (p.Ala1570Thr) single nucleotide variant Cardiomyopathy [RCV003532659] Chr14:23416249 [GRCh38]
Chr14:23885458 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4901G>T (p.Arg1634Leu) single nucleotide variant Cardiomyopathy [RCV004006113]|Hypertrophic cardiomyopathy [RCV003839220] Chr14:23416056 [GRCh38]
Chr14:23885265 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4626A>C (p.Ser1542=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003749664] Chr14:23416886 [GRCh38]
Chr14:23886095 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4645-10C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV003748920] Chr14:23416322 [GRCh38]
Chr14:23885531 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4899C>T (p.Asn1633=) single nucleotide variant Cardiomyopathy [RCV004005896]|Hypertrophic cardiomyopathy [RCV003749095] Chr14:23416058 [GRCh38]
Chr14:23885267 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4659C>G (p.His1553Gln) single nucleotide variant Hypertrophic cardiomyopathy [RCV003749374] Chr14:23416298 [GRCh38]
Chr14:23885507 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4945T>C (p.Leu1649=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003811775] Chr14:23416012 [GRCh38]
Chr14:23885221 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4704C>A (p.Ile1568=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003749440] Chr14:23416253 [GRCh38]
Chr14:23885462 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4918C>T (p.Gln1640Ter) single nucleotide variant Hypertrophic cardiomyopathy [RCV003749499] Chr14:23416039 [GRCh38]
Chr14:23885248 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-18C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV003749548] Chr14:23416330 [GRCh38]
Chr14:23885539 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4520-5C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV003749711] Chr14:23416997 [GRCh38]
Chr14:23886206 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4647C>T (p.Ala1549=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003832786] Chr14:23416310 [GRCh38]
Chr14:23885519 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4866C>T (p.Leu1622=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003749741] Chr14:23416091 [GRCh38]
Chr14:23885300 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4954-12C>T single nucleotide variant Cardiomyopathy [RCV004805562]|Hypertrophic cardiomyopathy [RCV003749872] Chr14:23415844 [GRCh38]
Chr14:23885053 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4953G>C (p.Lys1651Asn) single nucleotide variant Cardiomyopathy [RCV004006133]|Hypertrophic cardiomyopathy [RCV003854819] Chr14:23416004 [GRCh38]
Chr14:23885213 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4434C>T (p.Ser1478=) single nucleotide variant Cardiomyopathy [RCV003532661] Chr14:23417238 [GRCh38]
Chr14:23886447 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4954-5C>G single nucleotide variant Cardiomyopathy [RCV003532655] Chr14:23415837 [GRCh38]
Chr14:23885046 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4770C>T (p.His1590=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003587016]|MYH7-related disorder [RCV004536846] Chr14:23416187 [GRCh38]
Chr14:23885396 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5157+11C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV003822296] Chr14:23415618 [GRCh38]
Chr14:23884827 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5089C>A (p.Arg1697=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003845866] Chr14:23415697 [GRCh38]
Chr14:23884906 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4410G>T (p.Ser1470=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003587367] Chr14:23417262 [GRCh38]
Chr14:23886471 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4646C>A (p.Ala1549Asp) single nucleotide variant Hypertrophic cardiomyopathy [RCV003586534] Chr14:23416311 [GRCh38]
Chr14:23885520 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_000257.4(MYH7):c.4520-12T>C single nucleotide variant Cardiomyopathy [RCV004805625]|Hypertrophic cardiomyopathy [RCV003847253] Chr14:23417004 [GRCh38]
Chr14:23886213 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4644+11G>C single nucleotide variant Hypertrophic cardiomyopathy [RCV003587373] Chr14:23416857 [GRCh38]
Chr14:23886066 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5205C>G (p.Ser1735=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003586813] Chr14:23415459 [GRCh38]
Chr14:23884668 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4466A>G (p.Glu1489Gly) single nucleotide variant Hypertrophic cardiomyopathy [RCV003587417] Chr14:23417206 [GRCh38]
Chr14:23886415 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4424G>C (p.Arg1475Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV003748148] Chr14:23417248 [GRCh38]
Chr14:23886457 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4662G>A (p.Glu1554=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003748168] Chr14:23416295 [GRCh38]
Chr14:23885504 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4598T>C (p.Leu1533Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV003748569] Chr14:23416914 [GRCh38]
Chr14:23886123 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.5030G>C (p.Arg1677Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV003587861] Chr14:23415756 [GRCh38]
Chr14:23884965 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4788G>T (p.Ser1596=) single nucleotide variant Hypertrophic cardiomyopathy [RCV003586806] Chr14:23416169 [GRCh38]
Chr14:23885378 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4767C>T (p.Asn1589=) single nucleotide variant Cardiomyopathy [RCV004011737]|Hypertrophic cardiomyopathy [RCV003748064] Chr14:23416190 [GRCh38]
Chr14:23885399 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4465G>A (p.Glu1489Lys) single nucleotide variant Cardiomyopathy [RCV004011722]|Hypertrophic cardiomyopathy [RCV003747847] Chr14:23417207 [GRCh38]
Chr14:23886416 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4353+20del deletion Hypertrophic cardiomyopathy [RCV003870749] Chr14:23417483 [GRCh38]
Chr14:23886692 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5004G>T (p.Lys1668Asn) single nucleotide variant Hypertrophic cardiomyopathy [RCV003747717] Chr14:23415782 [GRCh38]
Chr14:23884991 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4543C>A (p.Gln1515Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV003747721] Chr14:23416969 [GRCh38]
Chr14:23886178 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4874T>G (p.Met1625Arg) single nucleotide variant Hypertrophic cardiomyopathy [RCV003862298] Chr14:23416083 [GRCh38]
Chr14:23885292 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5065C>A (p.Arg1689Ser) single nucleotide variant Hypertrophic cardiomyopathy [RCV003748727] Chr14:23415721 [GRCh38]
Chr14:23884930 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4379A>G (p.Tyr1460Cys) single nucleotide variant Hypertrophic cardiomyopathy [RCV003748800]|not provided [RCV005409957] Chr14:23417293 [GRCh38]
Chr14:23886502 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4353+7C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV003587793] Chr14:23417496 [GRCh38]
Chr14:23886705 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4953+3A>T single nucleotide variant Hypertrophic cardiomyopathy [RCV003587956] Chr14:23416001 [GRCh38]
Chr14:23885210 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4264C>A (p.Gln1422Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV003846413] Chr14:23417592 [GRCh38]
Chr14:23886801 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4301G>T (p.Arg1434Leu) single nucleotide variant Hypertrophic cardiomyopathy [RCV003586610] Chr14:23417555 [GRCh38]
Chr14:23886764 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4420G>C (p.Ala1474Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV003586707] Chr14:23417252 [GRCh38]
Chr14:23886461 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5020G>C (p.Val1674Leu) single nucleotide variant Cardiomyopathy [RCV005403321]|Hypertrophic cardiomyopathy [RCV003587056] Chr14:23415766 [GRCh38]
Chr14:23884975 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4519+12G>T single nucleotide variant Hypertrophic cardiomyopathy [RCV003587293] Chr14:23417141 [GRCh38]
Chr14:23886350 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4919A>G (p.Gln1640Arg) single nucleotide variant Hypertrophic cardiomyopathy [RCV003587303] Chr14:23416038 [GRCh38]
Chr14:23885247 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4520-16C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV003587309] Chr14:23417008 [GRCh38]
Chr14:23886217 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4801C>G (p.Leu1601Val) single nucleotide variant Cardiomyopathy [RCV004008176] Chr14:23416156 [GRCh38]
Chr14:23885365 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4953+1G>T single nucleotide variant Cardiomyopathy [RCV004010103] Chr14:23416003 [GRCh38]
Chr14:23885212 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5158-14C>T single nucleotide variant Cardiomyopathy [RCV004008265] Chr14:23415520 [GRCh38]
Chr14:23884729 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5053C>A (p.Leu1685Met) single nucleotide variant Cardiomyopathy [RCV004010109] Chr14:23415733 [GRCh38]
Chr14:23884942 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4603G>A (p.Ala1535Thr) single nucleotide variant Cardiomyopathy [RCV004007990] Chr14:23416909 [GRCh38]
Chr14:23886118 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4370A>G (p.Lys1457Arg) single nucleotide variant Cardiomyopathy [RCV004009811] Chr14:23417302 [GRCh38]
Chr14:23886511 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4494C>T (p.Phe1498=) single nucleotide variant Cardiomyopathy [RCV004007935]|Cardiovascular phenotype [RCV004987156]|not specified [RCV005406097] Chr14:23417178 [GRCh38]
Chr14:23886387 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5119A>G (p.Ile1707Val) single nucleotide variant Pericarditis [RCV003994662] Chr14:23415667 [GRCh38]
Chr14:23884876 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4288G>T (p.Val1430Leu) single nucleotide variant Cardiomyopathy [RCV004012311] Chr14:23417568 [GRCh38]
Chr14:23886777 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4911_4913delinsTCGGCTTCTGGGCCTCG (p.Glu1638fs) indel Hypertrophic cardiomyopathy [RCV004012742] Chr14:23416044..23416046 [GRCh38]
Chr14:23885253..23885255 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4374G>C (p.Gln1458His) single nucleotide variant Cardiomyopathy [RCV004012240] Chr14:23417298 [GRCh38]
Chr14:23886507 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4671G>T (p.Lys1557Asn) single nucleotide variant Cardiovascular phenotype [RCV004523025] Chr14:23416286 [GRCh38]
Chr14:23885495 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4788G>C (p.Ser1596=) single nucleotide variant Cardiovascular phenotype [RCV004523026]|Hypertrophic cardiomyopathy [RCV005100703] Chr14:23416169 [GRCh38]
Chr14:23885378 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5110C>A (p.Gln1704Lys) single nucleotide variant Cardiovascular phenotype [RCV004523029] Chr14:23415676 [GRCh38]
Chr14:23884885 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5004G>A (p.Lys1668=) single nucleotide variant Cardiovascular phenotype [RCV004523027] Chr14:23415782 [GRCh38]
Chr14:23884991 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4426T>G (p.Ser1476Ala) single nucleotide variant Cardiomyopathy [RCV004012209] Chr14:23417246 [GRCh38]
Chr14:23886455 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4714A>G (p.Ile1572Val) single nucleotide variant Cardiomyopathy [RCV004012195] Chr14:23416243 [GRCh38]
Chr14:23885452 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4402G>T (p.Glu1468Ter) single nucleotide variant Cardiomyopathy [RCV004011866] Chr14:23417270 [GRCh38]
Chr14:23886479 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4353+3G>A single nucleotide variant Cardiomyopathy [RCV004012586] Chr14:23417500 [GRCh38]
Chr14:23886709 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5103G>A (p.Leu1701=) single nucleotide variant Cardiomyopathy [RCV004012624] Chr14:23415683 [GRCh38]
Chr14:23884892 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4529C>T (p.Ser1510Phe) single nucleotide variant Cardiomyopathy [RCV004012538] Chr14:23416983 [GRCh38]
Chr14:23886192 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5072T>G (p.Val1691Gly) single nucleotide variant Cardiomyopathy [RCV004012381] Chr14:23415714 [GRCh38]
Chr14:23884923 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4557C>A (p.Ser1519Arg) single nucleotide variant Cardiomyopathy [RCV004012729] Chr14:23416955 [GRCh38]
Chr14:23886164 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5159A>G (p.Asn1720Ser) single nucleotide variant Cardiovascular phenotype [RCV004523030] Chr14:23415505 [GRCh38]
Chr14:23884714 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4590A>C (p.Arg1530=) single nucleotide variant Cardiomyopathy [RCV004015559] Chr14:23416922 [GRCh38]
Chr14:23886131 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4417G>C (p.Glu1473Gln) single nucleotide variant Cardiomyopathy [RCV004015060] Chr14:23417255 [GRCh38]
Chr14:23886464 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4820G>A (p.Ser1607Asn) single nucleotide variant Cardiomyopathy [RCV004015154] Chr14:23416137 [GRCh38]
Chr14:23885346 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4490C>A (p.Thr1497Asn) single nucleotide variant Cardiomyopathy [RCV004015089] Chr14:23417182 [GRCh38]
Chr14:23886391 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4506C>T (p.Asn1502=) single nucleotide variant Cardiomyopathy [RCV004016539] Chr14:23417166 [GRCh38]
Chr14:23886375 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4730C>T (p.Ala1577Val) single nucleotide variant Cardiomyopathy [RCV004013745] Chr14:23416227 [GRCh38]
Chr14:23885436 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5108A>G (p.Glu1703Gly) single nucleotide variant Cardiomyopathy [RCV004016876] Chr14:23415678 [GRCh38]
Chr14:23884887 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4839G>A (p.Arg1613=) single nucleotide variant Cardiovascular phenotype [RCV004452749]|Hypertrophic cardiomyopathy [RCV005104681] Chr14:23416118 [GRCh38]
Chr14:23885327 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4848G>A (p.Lys1616=) single nucleotide variant Cardiomyopathy [RCV004016942]|Hypertrophic cardiomyopathy [RCV005103358] Chr14:23416109 [GRCh38]
Chr14:23885318 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4660G>C (p.Glu1554Gln) single nucleotide variant Cardiomyopathy [RCV004013580] Chr14:23416297 [GRCh38]
Chr14:23885506 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5010C>T (p.Asn1670=) single nucleotide variant Cardiomyopathy [RCV004015911]|Hypertrophic cardiomyopathy [RCV005064968] Chr14:23415776 [GRCh38]
Chr14:23884985 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4536G>C (p.Leu1512Phe) single nucleotide variant Cardiomyopathy [RCV004015359] Chr14:23416976 [GRCh38]
Chr14:23886185 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5068G>A (p.Ala1690Thr) single nucleotide variant Cardiomyopathy [RCV004013757] Chr14:23415718 [GRCh38]
Chr14:23884927 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4972G>A (p.Asp1658Asn) single nucleotide variant Cardiomyopathy [RCV004014664] Chr14:23415814 [GRCh38]
Chr14:23885023 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5095C>T (p.Arg1699Trp) single nucleotide variant Cardiomyopathy [RCV004013332] Chr14:23415691 [GRCh38]
Chr14:23884900 [GRCh37]
Chr14:14q11.2		 uncertain significance
NC_000014.9:g.(?_23412738)_(23420234_?)del deletion Primary dilated cardiomyopathy [RCV004018390] Chr14:23412738..23420234 [GRCh38]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.4604C>A (p.Ala1535Asp) single nucleotide variant Cardiomyopathy [RCV004015226] Chr14:23416908 [GRCh38]
Chr14:23886117 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-10C>A single nucleotide variant Cardiomyopathy [RCV004016927] Chr14:23416322 [GRCh38]
Chr14:23885531 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5034C>G (p.Asn1678Lys) single nucleotide variant Cardiomyopathy [RCV004015139] Chr14:23415752 [GRCh38]
Chr14:23884961 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4777G>T (p.Val1593Leu) single nucleotide variant Cardiomyopathy [RCV004015712] Chr14:23416180 [GRCh38]
Chr14:23885389 [GRCh37]
Chr14:14q11.2		 uncertain significance
NC_000014.9:g.23390032_23419824dup duplication Myosin, cardiac, heavy chain variant [RCV000015209] Chr14:23390032..23419824 [GRCh38]
Chr14:14q11.2		 pathogenic|likely pathogenic
NM_000257.4(MYH7):c.5040G>A (p.Leu1680=) single nucleotide variant Cardiomyopathy [RCV004014811] Chr14:23415746 [GRCh38]
Chr14:23884955 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4570C>T (p.His1524Tyr) single nucleotide variant Cardiomyopathy [RCV004016433] Chr14:23416942 [GRCh38]
Chr14:23886151 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4589G>T (p.Arg1530Leu) single nucleotide variant Cardiomyopathy [RCV004016528] Chr14:23416923 [GRCh38]
Chr14:23886132 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4924C>T (p.Gln1642Ter) single nucleotide variant Cardiomyopathy [RCV004013305] Chr14:23416033 [GRCh38]
Chr14:23885242 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5069C>T (p.Ala1690Val) single nucleotide variant Cardiomyopathy [RCV004016489] Chr14:23415717 [GRCh38]
Chr14:23884926 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4356C>G (p.Ile1452Met) single nucleotide variant Cardiomyopathy [RCV004013906]|Hypertrophic cardiomyopathy [RCV005103332] Chr14:23417316 [GRCh38]
Chr14:23886525 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4550G>C (p.Gly1517Ala) single nucleotide variant Cardiomyopathy [RCV004013958] Chr14:23416962 [GRCh38]
Chr14:23886171 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4806C>A (p.Asp1602Glu) single nucleotide variant Cardiomyopathy [RCV004012919] Chr14:23416151 [GRCh38]
Chr14:23885360 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4880T>G (p.Ile1627Ser) single nucleotide variant Cardiomyopathy [RCV004015926] Chr14:23416077 [GRCh38]
Chr14:23885286 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4927G>A (p.Val1643Ile) single nucleotide variant not provided [RCV004697416] Chr14:23416030 [GRCh38]
Chr14:23885239 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4943del (p.Ser1648fs) deletion Hypertrophic cardiomyopathy 1 [RCV004577935] Chr14:23416014 [GRCh38]
Chr14:23885223 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.4890C>G (p.Ser1630Arg) single nucleotide variant not provided [RCV004697860] Chr14:23416067 [GRCh38]
Chr14:23885276 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5042T>C (p.Leu1681Pro) single nucleotide variant MYH7-related skeletal myopathy [RCV004696616] Chr14:23415744 [GRCh38]
Chr14:23884953 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.5133G>A (p.Glu1711=) single nucleotide variant Cardiovascular phenotype [RCV004645795]|Hypertrophic cardiomyopathy [RCV005059692] Chr14:23415653 [GRCh38]
Chr14:23884862 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4429C>T (p.Leu1477Phe) single nucleotide variant not provided [RCV004779725] Chr14:23417243 [GRCh38]
Chr14:23886452 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4440G>C (p.Glu1480Asp) single nucleotide variant not provided [RCV004770711] Chr14:23417232 [GRCh38]
Chr14:23886441 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4526T>C (p.Ile1509Thr) single nucleotide variant Cardiomyopathy [RCV004807550] Chr14:23416986 [GRCh38]
Chr14:23886195 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4490C>T (p.Thr1497Ile) single nucleotide variant Cardiomyopathy [RCV004807558] Chr14:23417182 [GRCh38]
Chr14:23886391 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4399C>A (p.Leu1467Met) single nucleotide variant not provided [RCV004772223] Chr14:23417273 [GRCh38]
Chr14:23886482 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4637A>G (p.Glu1546Gly) single nucleotide variant Hypertrophic cardiomyopathy [RCV004765460] Chr14:23416875 [GRCh38]
Chr14:23886084 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5123A>T (p.Glu1708Val) single nucleotide variant not provided [RCV004775831] Chr14:23415663 [GRCh38]
Chr14:23884872 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4559G>T (p.Gly1520Val) single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV004788375] Chr14:23416953 [GRCh38]
Chr14:23886162 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4699C>A (p.Gln1567Lys) single nucleotide variant Cardiomyopathy [RCV004807547] Chr14:23416258 [GRCh38]
Chr14:23885467 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4519+3G>A single nucleotide variant Cardiomyopathy [RCV004807553] Chr14:23417150 [GRCh38]
Chr14:23886359 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4504A>T (p.Asn1502Tyr) single nucleotide variant Cardiomyopathy [RCV004807557] Chr14:23417168 [GRCh38]
Chr14:23886377 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4331A>G (p.Lys1444Arg) single nucleotide variant Cardiomyopathy [RCV004807560] Chr14:23417525 [GRCh38]
Chr14:23886734 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5087A>C (p.Glu1696Ala) single nucleotide variant not provided [RCV004772249] Chr14:23415699 [GRCh38]
Chr14:23884908 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4538C>G (p.Thr1513Ser) single nucleotide variant not provided [RCV004778476] Chr14:23416974 [GRCh38]
Chr14:23886183 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4429_4437dup (p.Thr1479_Glu1480insLeuSerThr) duplication not provided [RCV004801595] Chr14:23417234..23417235 [GRCh38]
Chr14:23886443..23886444 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4654G>T (p.Glu1552Ter) single nucleotide variant Cardiovascular phenotype [RCV004987380] Chr14:23416303 [GRCh38]
Chr14:23885512 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4860A>T (p.Gly1620=) single nucleotide variant Cardiovascular phenotype [RCV004987385] Chr14:23416097 [GRCh38]
Chr14:23885306 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4878G>A (p.Glu1626=) single nucleotide variant Cardiovascular phenotype [RCV004987391] Chr14:23416079 [GRCh38]
Chr14:23885288 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5058G>A (p.Glu1686=) single nucleotide variant Cardiovascular phenotype [RCV004987394] Chr14:23415728 [GRCh38]
Chr14:23884937 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4762C>G (p.Arg1588Gly) single nucleotide variant Cardiovascular phenotype [RCV004987400] Chr14:23416195 [GRCh38]
Chr14:23885404 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4656G>A (p.Glu1552=) single nucleotide variant Cardiovascular phenotype [RCV004987387] Chr14:23416301 [GRCh38]
Chr14:23885510 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5197G>A (p.Asp1733Asn) single nucleotide variant Hypertrophic cardiomyopathy [RCV005106913] Chr14:23415467 [GRCh38]
Chr14:23884676 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5144T>G (p.Leu1715Arg) single nucleotide variant Hypertrophic cardiomyopathy [RCV005106914] Chr14:23415642 [GRCh38]
Chr14:23884851 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5133G>C (p.Glu1711Asp) single nucleotide variant Hypertrophic cardiomyopathy [RCV005106915] Chr14:23415653 [GRCh38]
Chr14:23884862 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5098A>G (p.Lys1700Glu) single nucleotide variant Hypertrophic cardiomyopathy [RCV005106916] Chr14:23415688 [GRCh38]
Chr14:23884897 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5007G>T (p.Glu1669Asp) single nucleotide variant Hypertrophic cardiomyopathy [RCV005106917] Chr14:23415779 [GRCh38]
Chr14:23884988 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5000T>C (p.Leu1667Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV005106918] Chr14:23415786 [GRCh38]
Chr14:23884995 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_000257.4(MYH7):c.4754A>G (p.Gln1585Arg) single nucleotide variant Hypertrophic cardiomyopathy [RCV005106919] Chr14:23416203 [GRCh38]
Chr14:23885412 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4744G>A (p.Glu1582Lys) single nucleotide variant Hypertrophic cardiomyopathy [RCV005106920] Chr14:23416213 [GRCh38]
Chr14:23885422 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4450C>T (p.Leu1484Phe) single nucleotide variant Hypertrophic cardiomyopathy [RCV005106922] Chr14:23417222 [GRCh38]
Chr14:23886431 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4342A>G (p.Asn1448Asp) single nucleotide variant Hypertrophic cardiomyopathy [RCV005106923] Chr14:23417514 [GRCh38]
Chr14:23886723 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4519+15C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV005175828] Chr14:23417138 [GRCh38]
Chr14:23886347 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5157+11C>A single nucleotide variant Hypertrophic cardiomyopathy [RCV005172364] Chr14:23415618 [GRCh38]
Chr14:23884827 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4428C>T (p.Ser1476=) single nucleotide variant Hypertrophic cardiomyopathy [RCV005087852] Chr14:23417244 [GRCh38]
Chr14:23886453 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4720C>A (p.Arg1574=) single nucleotide variant Hypertrophic cardiomyopathy [RCV005085242] Chr14:23416237 [GRCh38]
Chr14:23885446 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4793A>T (p.Gln1598Leu) single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV005247950] Chr14:23416164 [GRCh38]
Chr14:23885373 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_000257.4(MYH7):c.5163C>A (p.Thr1721=) single nucleotide variant Hypertrophic cardiomyopathy [RCV005122197] Chr14:23415501 [GRCh38]
Chr14:23884710 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4951A>G (p.Lys1651Glu) single nucleotide variant Hypertrophic cardiomyopathy [RCV005136169] Chr14:23416006 [GRCh38]
Chr14:23885215 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4645-1G>T single nucleotide variant Hypertrophic cardiomyopathy [RCV005137418] Chr14:23416313 [GRCh38]
Chr14:23885522 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4290G>A (p.Val1430=) single nucleotide variant Hypertrophic cardiomyopathy [RCV005187420] Chr14:23417566 [GRCh38]
Chr14:23886775 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4397A>G (p.Glu1466Gly) single nucleotide variant Hypertrophic cardiomyopathy [RCV005178026] Chr14:23417275 [GRCh38]
Chr14:23886484 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4679_4681del (p.Arg1560_Ala1561delinsPro) deletion Hypertrophic cardiomyopathy [RCV005204709] Chr14:23416276..23416278 [GRCh38]
Chr14:23885485..23885487 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4522G>T (p.Glu1508Ter) single nucleotide variant Hypertrophic cardiomyopathy [RCV005116023] Chr14:23416990 [GRCh38]
Chr14:23886199 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4896C>T (p.Ala1632=) single nucleotide variant Hypertrophic cardiomyopathy [RCV005163217] Chr14:23416061 [GRCh38]
Chr14:23885270 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5157+16G>A single nucleotide variant Hypertrophic cardiomyopathy [RCV005156879] Chr14:23415613 [GRCh38]
Chr14:23884822 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4354-12G>A single nucleotide variant not specified [RCV005238439] Chr14:23417330 [GRCh38]
Chr14:23886539 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5126C>T (p.Thr1709Ile) single nucleotide variant not provided [RCV005241964] Chr14:23415660 [GRCh38]
Chr14:23884869 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4644+10T>C single nucleotide variant Hypertrophic cardiomyopathy [RCV005153857] Chr14:23416858 [GRCh38]
Chr14:23886067 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4874T>C (p.Met1625Thr) single nucleotide variant Hypertrophic cardiomyopathy [RCV005084483] Chr14:23416083 [GRCh38]
Chr14:23885292 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5159A>T (p.Asn1720Ile) single nucleotide variant Hypertrophic cardiomyopathy [RCV005244175] Chr14:23415505 [GRCh38]
Chr14:23884714 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5158-15C>A single nucleotide variant Hypertrophic cardiomyopathy [RCV005126422] Chr14:23415521 [GRCh38]
Chr14:23884730 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4645-13A>C single nucleotide variant Hypertrophic cardiomyopathy [RCV005167010] Chr14:23416325 [GRCh38]
Chr14:23885534 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4644+11G>T single nucleotide variant Hypertrophic cardiomyopathy [RCV005207293] Chr14:23416857 [GRCh38]
Chr14:23886066 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4381GAG[1] (p.Glu1462del) microsatellite Hypertrophic cardiomyopathy [RCV005138855] Chr14:23417286..23417288 [GRCh38]
Chr14:23886495..23886497 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4354-7del deletion Hypertrophic cardiomyopathy [RCV005078435] Chr14:23417325 [GRCh38]
Chr14:23886534 [GRCh37]
Chr14:14q11.2		 benign
NM_000257.4(MYH7):c.4400T>C (p.Leu1467Pro) single nucleotide variant Hypertrophic cardiomyopathy [RCV005137113]|MYH7-related skeletal myopathy [RCV005410029] Chr14:23417272 [GRCh38]
Chr14:23886481 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4644+19C>T single nucleotide variant Hypertrophic cardiomyopathy [RCV005141241] Chr14:23416849 [GRCh38]
Chr14:23886058 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4644+2TG[5] microsatellite Hypertrophic cardiomyopathy [RCV005178977] Chr14:23416855..23416856 [GRCh38]
Chr14:23886064..23886065 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4354-2A>G single nucleotide variant Hypertrophic cardiomyopathy [RCV005128247] Chr14:23417320 [GRCh38]
Chr14:23886529 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5157+5G>A single nucleotide variant Hypertrophic cardiomyopathy [RCV005128153] Chr14:23415624 [GRCh38]
Chr14:23884833 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4943G>C (p.Ser1648Thr) single nucleotide variant Hypertrophic cardiomyopathy [RCV005153827] Chr14:23416014 [GRCh38]
Chr14:23885223 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5172C>T (p.Ile1724=) single nucleotide variant Hypertrophic cardiomyopathy [RCV005070698] Chr14:23415492 [GRCh38]
Chr14:23884701 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4974del (p.Asp1658fs) deletion Hypertrophic cardiomyopathy [RCV005203627] Chr14:23415812 [GRCh38]
Chr14:23885021 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5196T>G (p.Ala1732=) single nucleotide variant Cardiovascular phenotype [RCV005373955] Chr14:23415468 [GRCh38]
Chr14:23884677 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5199C>T (p.Asp1733=) single nucleotide variant Cardiovascular phenotype [RCV005373956] Chr14:23415465 [GRCh38]
Chr14:23884674 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5193_5203delinsGTCGGATCTGA (p.Asp1731_Ser1735delinsGluSerAspLeuThr) indel Cardiovascular phenotype [RCV005373957] Chr14:23415461..23415471 [GRCh38]
Chr14:23884670..23884680 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5145G>C (p.Leu1715=) single nucleotide variant Cardiovascular phenotype [RCV005389729] Chr14:23415641 [GRCh38]
Chr14:23884850 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.5158-2A>C single nucleotide variant Cardiovascular phenotype [RCV005389730] Chr14:23415508 [GRCh38]
Chr14:23884717 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5116C>G (p.Leu1706Val) single nucleotide variant Cardiomyopathy [RCV005402743] Chr14:23415670 [GRCh38]
Chr14:23884879 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4797C>T (p.Thr1599=) single nucleotide variant Cardiomyopathy [RCV005403698] Chr14:23416160 [GRCh38]
Chr14:23885369 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4716C>G (p.Ile1572Met) single nucleotide variant Cardiomyopathy [RCV005402741] Chr14:23416241 [GRCh38]
Chr14:23885450 [GRCh37]
Chr14:14q11.2		 likely benign
NM_000257.4(MYH7):c.4840G>T (p.Val1614Leu) single nucleotide variant Cardiomyopathy [RCV005400786] Chr14:23416117 [GRCh38]
Chr14:23885326 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5131G>A (p.Glu1711Lys) single nucleotide variant not provided [RCV001777114] Chr14:23415655 [GRCh38]
Chr14:23884864 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.4749G>T (p.Met1583Ile) single nucleotide variant Cardiomyopathy [RCV001181701] Chr14:23416208 [GRCh38]
Chr14:23885417 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_000257.4(MYH7):c.5002A>G (p.Lys1668Glu) single nucleotide variant Hypertrophic cardiomyopathy [RCV005095054]|not provided [RCV001755425] Chr14:23415784 [GRCh38]
Chr14:23884993 [GRCh37]
Chr14:14q11.2		 uncertain significance

Expression

RNA-SEQ Expression


Sequence


RefSeq Acc Id: NR_126491
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,415,450 - 23,417,595 (+)NCBI
CHM1_11423,883,331 - 23,885,476 (+)NCBI
T2T-CHM13v2.01417,616,454 - 17,618,599 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:51291 AgrOrtholog
COSMIC MHRT COSMIC
GTEx MHRT GTEx
HGNC ID HGNC:51291 ENTREZGENE
Human Proteome Map MHRT Human Proteome Map
NCBI Gene MHRT ENTREZGENE
OMIM 616096 OMIM
RNAcentral URS00007E4CE3 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-07-27 MHRT  myosin heavy chain associated RNA transcript    myosin heavy chain-associated RNA transcript  Symbol and/or name change 5135510 APPROVED