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Abnormalities, Multiple (D000015)
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Arthrogryposis (D001176)
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Trismus (D014313)
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Hecht syndrome (C535857)

       Child Nodes:



 Sister Nodes: 
..expandCrisponi syndrome (C536214)
..expandHecht syndrome (C535857)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5433
Name:Hecht syndrome
Definition:
Alternative IDs:OMIM:158300
ParentIDs:MESH:D000015|MESH:D001176|MESH:D014313
TreeNumbers:C05.550.150/C535857 |C05.651.102/C535857 |C05.660.077/C535857 |C10.597.613.750.700/C535857 |C16.131.077/C535857 |C16.131.621.077/C535857 |C23.888.592.608.750.700/C535857
Synonyms:Arthrogryposis, Distal, Type 7 |DA7 |HECHT SYNDROME |MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS |Trismus-pseudocamptodactyly |Trismus-Pseudocamptodactyly Syndrome
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C535857
MeSH: C535857
OMIM: 158300;
MSeqDR LSDB:  
Genes: MYH8;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002804Arthrogryposis multiplex congenita
3 HP:0010621Cutaneous syndactyly of toes
4 HP:0002002Deep philtrumHP:0040283
5 HP:0005684Distal arthrogryposis
6 HP:0002015Dysphagia
NAMDC:  Dysphagia
7 HP:0000324Facial asymmetry
8 HP:0011968Feeding difficulties
9 HP:0001765Hammertoe
10 HP:0002827Hip dislocation
11 HP:0000256MacrocephalyHP:0040283
12 HP:0001840Metatarsus adductus
13 HP:0000347Micrognathia
14 HP:0000508Ptosis
NAMDC:  Ptosis
15 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
16 HP:0001762Talipes equinovarus
17 HP:0400000Tall chinHP:0040283
18 HP:0000211Trismus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002472.3(MYH8):c.*76G>C4626MYH8Likely benignrs3744551RCV000387032; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029369510293695CG17:g.10293695C>GClinGen:CA10648503C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.*72T>C4626MYH8Likely benignrs184845947RCV000295156; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029369910293699AG17:g.10293699A>GClinGen:CA10644803C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.*33G>C4626MYH8Uncertain significance-1RCV001121957; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029373810293738CG17:g.10293738C>G-
NM_002472.3(MYH8):c.*19A>G4626MYH8Uncertain significance-1RCV001121958; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029375210293752TC17:g.10293752T>C-
NM_002472.3(MYH8):c.5736G>C (p.Arg1912=)4626MYH8Uncertain significancers371556070RCV000316079; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029384910293849CG17:g.10293849C>GClinGen:CA8386937
NM_002472.3(MYH8):c.5543G>A (p.Arg1848Gln)4626MYH8Uncertain significance-1RCV001115382; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029588410295884CT17:g.10295884C>T-
NM_002472.3(MYH8):c.5539G>A (p.Glu1847Lys)4626MYH8Conflicting interpretations of pathogenicityrs757938047RCV000373016|RCV000931653; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377|MedGen:CN517202171029588810295888CT17:g.10295888C>TClinGen:CA8387001
NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala)4626MYH8Benign/Likely benignrs111567318RCV000514232|RCV001115383; NMedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029591410295914TG17:g.10295914T>GClinGen:CA8387011CN517202 not provided;
NM_002472.3(MYH8):c.5464G>A (p.Val1822Ile)4626MYH8Benign/Likely benignrs143876651RCV000249708|RCV000280910|RCV000897671; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377|MedGen:CN517202171029596310295963CT17:g.10295963C>TClinGen:CA8387021C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.5459C>T (p.Ala1820Val)4626MYH8Conflicting interpretations of pathogenicityrs148625172RCV000967437|RCV001115384; NMedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029615210296152GA17:g.10296152G>A-
NM_002472.3(MYH8):c.5435A>G (p.Lys1812Arg)4626MYH8Likely benignrs201598997RCV000338321; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029617610296176TC17:g.10296176T>CClinGen:CA8387044
NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)4626MYH8Conflicting interpretations of pathogenicityrs141215006RCV000194050|RCV000210686|RCV000953038|RCV000989748; NMedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029626110296261GC17:g.10296261G>CClinGen:CA207949C0950123 Inborn genetic diseases;
NM_002472.3(MYH8):c.5208C>T (p.Asp1736=)4626MYH8Benignrs33969260RCV000117693|RCV000393720; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029648610296486GA17:g.10296486G>AClinGen:CA153832C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.5194A>G (p.Lys1732Glu)4626MYH8Uncertain significance-1RCV001118527; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029650010296500TC17:g.10296500T>C-
NM_002472.3(MYH8):c.5166+14A>G4626MYH8Uncertain significancers201762304RCV000284429; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029755210297552TC17:g.10297552T>CClinGen:CA8387123
NM_002472.3(MYH8):c.5115C>T (p.Ala1705=)4626MYH8Uncertain significance-1RCV001118528; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029761710297617GA17:g.10297617G>A-
NM_002472.3(MYH8):c.5112C>A (p.Ile1704=)4626MYH8Uncertain significance-1RCV001118529; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029762010297620GT17:g.10297620G>T-
NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg)4626MYH8Benignrs8069834RCV000117692|RCV000341726; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029765810297658AG17:g.10297658A>GClinGen:CA153830,UniProtKB:P13535#VAR_030209C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.5025A>G (p.Ala1675=)4626MYH8Uncertain significance-1RCV001118530; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029770710297707TC17:g.10297707T>C-
NM_002472.3(MYH8):c.4994G>A (p.Arg1665Gln)4626MYH8Uncertain significancers199865613RCV000404045; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029773810297738CT17:g.10297738C>TClinGen:CA8387158
NM_002472.3(MYH8):c.4910G>A (p.Arg1637His)4626MYH8Uncertain significancers886052556RCV000306309; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029850210298502CT17:g.10298502C>TClinGen:CA10638823
NM_002472.3(MYH8):c.4878T>C (p.Asn1626=)4626MYH8Uncertain significance-1RCV001120052; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029853410298534AG17:g.10298534A>G-
NM_002472.3(MYH8):c.4813G>A (p.Asp1605Asn)4626MYH8Conflicting interpretations of pathogenicityrs139344968RCV000948447|RCV001120053; NMedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029859910298599CT17:g.10298599C>T-
NM_002472.3(MYH8):c.4784G>A (p.Arg1595Lys)4626MYH8Uncertain significancers145711576RCV000363358; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029862810298628CT17:g.10298628C>TClinGen:CA8387206
NM_002472.3(MYH8):c.4738G>A (p.Ala1580Thr)4626MYH8Uncertain significancers181695343RCV000404339; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029867410298674CT17:g.10298674C>TClinGen:CA8387211
NM_002472.3(MYH8):c.4692C>A (p.Ile1564=)4626MYH8Uncertain significancers886052557RCV000309839; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029872010298720GT17:g.10298720G>TClinGen:CA10638826
NM_002472.3(MYH8):c.4688G>A (p.Arg1563His)4626MYH8Uncertain significancers544591533RCV000366956; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029872410298724CT17:g.10298724C>TClinGen:CA8387217
NM_002472.3(MYH8):c.4499C>T (p.Thr1500Met)4626MYH8Benign/Likely benignrs73977155RCV000893692|RCV001120054; NMedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029989910299899GA17:g.10299899G>A-
NM_002472.3(MYH8):c.4433G>A (p.Arg1478His)4626MYH8Uncertain significancers201586936RCV000274687; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171029996510299965CT17:g.10299965C>TClinGen:CA8387282
NM_002472.3(MYH8):c.4249C>G (p.Leu1417Val)4626MYH8Uncertain significancers886052558RCV000332157; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030023310300233GC17:g.10300233G>CClinGen:CA10648506
NM_002472.3(MYH8):c.4233C>T (p.Asn1411=)4626MYH8Benign/Likely benignrs138992963RCV000117691|RCV000370524|RCV000962468; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377|MedGen:CN517202171030024910300249GA17:g.10300249G>AClinGen:CA153828C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.4147A>G (p.Ile1383Val)4626MYH8Uncertain significance-1RCV001120362; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030179210301792TC17:g.10301792T>C-
NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys)4626MYH8Conflicting interpretations of pathogenicityrs140562514RCV000193751|RCV000970023|RCV001120363; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030189710301897CT17:g.10301897C>TClinGen:CA207450
NM_002472.3(MYH8):c.4003G>A (p.Ala1335Thr)4626MYH8Uncertain significancers142232788RCV000260074; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030193610301936CT17:g.10301936C>TClinGen:CA8387379
NM_002472.3(MYH8):c.3918G>A (p.Arg1306=)4626MYH8Uncertain significance-1RCV001120364; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030214810302148CT17:g.10302148C>T-
NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter)4626MYH8Uncertain significancers150008607RCV000490328; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377; MONDO:MONDO:0012137,MedGen:C1837245,OMIM:608837, Orphanet:319340171030219210302192GA17:g.10302192G>AClinGen:CA8387419C1837245 608837 Carney complex variant;
NM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys)4626MYH8Benign/Likely benignrs34953692RCV000117690|RCV000973549|RCV001120365; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030296510302965GA17:g.10302965G>AClinGen:CA153826
NM_002472.3(MYH8):c.3754T>C (p.Cys1252Arg)4626MYH8Uncertain significance-1RCV001115463; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030296810302968AG17:g.10302968A>G-
NM_002472.3(MYH8):c.3735+2T>A4626MYH8Uncertain significancers1567683590RCV000779202; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030370510303705AT17:g.10303705A>T-
NM_002472.3(MYH8):c.3703A>G (p.Ser1235Gly)4626MYH8Uncertain significancers199962930RCV000317571; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030373910303739TC17:g.10303739T>CClinGen:CA8387472
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr)4626MYH8Benign/Likely benignrs35962914RCV000117689|RCV000970024|RCV001115464; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030375610303756AG17:g.10303756A>GUniProtKB:P13535#VAR_050204,ClinGen:CA153824CN169374 not specified;
NM_002472.3(MYH8):c.3680T>G (p.Leu1227Arg)4626MYH8Uncertain significance-1RCV001115465; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030376210303762AC17:g.10303762A>C-
NM_002472.3(MYH8):c.3643C>A (p.Arg1215=)4626MYH8Uncertain significance-1RCV001115466; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030379910303799GT17:g.10303799G>T-
NM_002472.3(MYH8):c.3550G>A (p.Ala1184Thr)4626MYH8Uncertain significancers372242216RCV000374507; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030389210303892CT17:g.10303892C>TClinGen:CA10649454
NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys)4626MYH8Uncertain significancers142073810RCV000192957|RCV001115467; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030391010303910GA17:g.10303910G>AClinGen:CA206127
NM_002472.3(MYH8):c.3469G>A (p.Gly1157Ser)4626MYH8Uncertain significance-1RCV001115468; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030397310303973CT17:g.10303973C>T-
NM_002472.3(MYH8):c.3423C>T (p.Asp1141=)4626MYH8Uncertain significance-1RCV001118626; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030401910304019GA17:g.10304019G>A-
NM_002472.3(MYH8):c.3408G>A (p.Glu1136=)4626MYH8Uncertain significance-1RCV001118627; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030403410304034CT17:g.10304034C>T-
NM_002472.3(MYH8):c.3388G>T (p.Ala1130Ser)4626MYH8Uncertain significancers138679792RCV000282382; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030405410304054CA17:g.10304054C>AClinGen:CA8387511
NM_002472.3(MYH8):c.3376G>C (p.Glu1126Gln)4626MYH8Uncertain significancers748982401RCV000320909; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030406610304066CG17:g.10304066C>GClinGen:CA8387513
NM_002472.3(MYH8):c.3340T>C (p.Leu1114=)4626MYH8Conflicting interpretations of pathogenicityrs142711931RCV000377907|RCV000907735; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377|MedGen:CN517202171030419110304191AG17:g.10304191A>GClinGen:CA8387538
NM_002472.3(MYH8):c.3320del (p.Leu1107fs)4626MYH8Conflicting interpretations of pathogenicityrs751871946RCV000449642|RCV000594344|RCV001199269; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377|MedGen:CN517202|MONDO:MONDO:0012137,MedGen:C1837245,OMIM:608837, Orphanet:319340171030421110304211TAT17:g.10304211_10304211delClinGen:CA8387544C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.3270C>T (p.Ile1090=)4626MYH8Benignrs3744552RCV000117688|RCV000285844; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030426110304261GA17:g.10304261G>AClinGen:CA153822C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.3255-8G>A4626MYH8Uncertain significancers367738995RCV000343055; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030428410304284CT17:g.10304284C>TClinGen:CA8387555
NM_002472.3(MYH8):c.3254+8C>A4626MYH8Uncertain significancers778017020RCV000408074; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030435510304355GT17:g.10304355G>TClinGen:CA8387571
NM_002472.3(MYH8):c.3151C>G (p.Leu1051Val)4626MYH8Uncertain significance-1RCV001120169; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030446610304466GC17:g.10304466G>C-
NM_002472.3(MYH8):c.3117G>A (p.Gly1039=)4626MYH8Benignrs3744553RCV000117687|RCV000289687; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030450010304500CT17:g.10304500C>TClinGen:CA153820C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.2987C>G (p.Ser996Cys)4626MYH8Uncertain significancers75477725RCV000346993; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030471310304713GC17:g.10304713G>CClinGen:CA8387642
NM_002472.3(MYH8):c.2791G>A (p.Glu931Lys)4626MYH8Uncertain significancers142137577RCV000402897; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030500010305000CT17:g.10305000C>TClinGen:CA8387690
NM_002472.3(MYH8):c.2439A>G (p.Ala813=)4626MYH8Uncertain significance-1RCV001120170; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030789610307896TC17:g.10307896T>C-
NM_002472.3(MYH8):c.2317C>T (p.Leu773=)4626MYH8Uncertain significance-1RCV001120171; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171030947310309473GA17:g.10309473G>A-
NM_002472.3(MYH8):c.2274A>G (p.Gln758=)4626MYH8Benign/Likely benignrs145901155RCV000249435|RCV000312031|RCV000950815; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377|MedGen:CN517202171030961210309612TC17:g.10309612T>CClinGen:CA8387816C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.2117G>A (p.Arg706His)4626MYH8Likely benignrs150351713RCV000369012; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031006110310061CT17:g.10310061C>TClinGen:CA8387857
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)4626MYH8Pathogenicrs121434590RCV000015197|RCV000015198|RCV000438123; NMONDO:MONDO:0012137,MedGen:C1837245,OMIM:608837, Orphanet:319340|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377|MedGen:CN517202171031024110310241CT17:g.10310241C>TClinGen:CA123752,UniProtKB:P13535#VAR_019810,OMIM:160741.0001C1837245 608837 Carney complex variant;
NM_002472.3(MYH8):c.2016C>T (p.Phe672=)4626MYH8Benignrs12936716RCV000117686|RCV000404842; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031024610310246GA17:g.10310246G>AClinGen:CA153818C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.1989G>A (p.Thr663=)4626MYH8Uncertain significancers886052559RCV000315475; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031027310310273CT17:g.10310273C>TClinGen:CA10644809
NM_002472.3(MYH8):c.1973T>A (p.Leu658Ter)4626MYH8Uncertain significancers746410520RCV000778484; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031028910310289AT17:g.10310289A>T-
NM_002472.3(MYH8):c.1907C>T (p.Ala636Val)4626MYH8Benignrs34693726RCV000117685|RCV000354138; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031247210312472GA17:g.10312472G>AClinGen:CA153816,UniProtKB:P13535#VAR_050203C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.1899T>C (p.Asp633=)4626MYH8Uncertain significance-1RCV001120471; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031248010312480AG17:g.10312480A>G-
NM_002472.3(MYH8):c.1833G>A (p.Leu611=)4626MYH8Uncertain significancers202061555RCV000261558; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031266010312660CT17:g.10312660C>TClinGen:CA8387967
NM_002472.3(MYH8):c.1815T>A (p.Asn605Lys)4626MYH8Benign/Likely benignrs151091483RCV000927544|RCV001120472; NMedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031267810312678AT17:g.10312678A>T-
NM_002472.3(MYH8):c.1803G>T (p.Lys601Asn)4626MYH8Uncertain significance-1RCV001120473; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031269010312690CA17:g.10312690C>A-
NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp)4626MYH8Benign/Likely benignrs75160168RCV000300494|RCV000964359; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377|MedGen:CN517202171031276210312762CG17:g.10312762C>GClinGen:CA8387988
NM_002472.3(MYH8):c.1701G>A (p.Gln567=)4626MYH8Benignrs73275411RCV000117684|RCV000357614|RCV000961460; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377|MedGen:CN517202171031279210312792CT17:g.10312792C>TClinGen:CA153814
NM_002472.3(MYH8):c.1632T>C (p.Pro544=)4626MYH8Benign/Likely benignrs144596237RCV000955215|RCV001115563; NMedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031286110312861AG17:g.10312861A>G-
NM_002472.3(MYH8):c.1587+4G>A4626MYH8Uncertain significance-1RCV001115564; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031409010314090CT17:g.10314090C>T-
NM_002472.3(MYH8):c.1583A>G (p.Glu528Gly)4626MYH8Uncertain significance-1RCV001115565; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031409810314098TC17:g.10314098T>C-
NM_002472.3(MYH8):c.1486_1487del (p.Met496fs)4626MYH8Uncertain significancers768299780RCV000778485; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031419410314195CATC17:g.10314194_10314195del-
NM_002472.3(MYH8):c.1432C>T (p.Gln478Ter)4626MYH8Uncertain significancers748598841RCV000778486; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031424910314249GA17:g.10314249G>A-
NM_002472.3(MYH8):c.1416+11T>G4626MYH8Uncertain significancers186333848RCV000265285; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031567610315676AC17:g.10315676A>CClinGen:CA8388073
NM_002472.3(MYH8):c.1318C>T (p.Leu440=)4626MYH8Conflicting interpretations of pathogenicityrs141899271RCV000973106|RCV001115566; NMedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031578510315785GA17:g.10315785G>A-
NM_002472.3(MYH8):c.1268T>G (p.Val423Gly)4626MYH8Uncertain significancers747960533RCV000322772; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031583510315835AC17:g.10315835A>CClinGen:CA8388103
NM_002472.3(MYH8):c.1150G>A (p.Ala384Thr)4626MYH8Uncertain significance-1RCV001115567; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031604310316043CT17:g.10316043C>T-
NM_002472.3(MYH8):c.1147+14C>G4626MYH8Uncertain significance-1RCV001116991; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031720510317205GC17:g.10317205G>C-
NM_002472.3(MYH8):c.1067C>T (p.Thr356Ile)4626MYH8Uncertain significancers199851248RCV000379745; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031729910317299GA17:g.10317299G>AClinGen:CA8388164
NM_002472.3(MYH8):c.1054A>C (p.Ile352Leu)4626MYH8Uncertain significance-1RCV001116992; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031731210317312TG17:g.10317312T>G-
NM_002472.3(MYH8):c.1034C>G (p.Thr345Ser)4626MYH8Uncertain significance-1RCV001116993; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031733210317332GC17:g.10317332G>C-
NM_002472.3(MYH8):c.1009-4G>A4626MYH8Uncertain significancers886052560RCV000268348; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031736110317361CT17:g.10317361C>TClinGen:CA10638829
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr)4626MYH8Uncertain significancers34124921RCV000785100|RCV000785101|RCV001116994; NMONDO:MONDO:0007157,MedGen:C0220662,OMIM:108120, Orphanet:1146|MONDO:MONDO:0012137,MedGen:C1837245,OMIM:608837, Orphanet:319340|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031754010317540AG17:g.10317540A>G-
NM_002472.3(MYH8):c.959A>T (p.Glu320Val)4626MYH8Uncertain significance-1RCV001116995; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031755810317558TA17:g.10317558T>A-
NM_002472.3(MYH8):c.954G>C (p.Gln318His)4626MYH8Conflicting interpretations of pathogenicityrs142606252RCV000911878|RCV001116996; NMedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031756310317563CG17:g.10317563C>G-
NM_002472.3(MYH8):c.851G>T (p.Arg284Ile)4626MYH8Uncertain significance-1RCV001120264; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031775610317756CA17:g.10317756C>A-
NM_002472.3(MYH8):c.846G>A (p.Ala282=)4626MYH8Uncertain significancers577298464RCV000323405; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031776110317761CT17:g.10317761C>TClinGen:CA8388232
NM_002472.3(MYH8):c.840A>G (p.Leu280=)4626MYH8Uncertain significancers763682269RCV000378041; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031776710317767TC17:g.10317767T>CClinGen:CA8388235
NM_002472.3(MYH8):c.805+9C>T4626MYH8Benign/Likely benignrs75468422RCV000117695|RCV000947767|RCV001120265; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031842410318424GA17:g.10318424G>AClinGen:CA153836
NM_002472.3(MYH8):c.797T>C (p.Ile266Thr)4626MYH8Uncertain significance-1RCV001262909; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031844110318441AG17:g.10318441A>G-
NM_002472.3(MYH8):c.714T>C (p.Thr238=)4626MYH8Benignrs8068729RCV000117694|RCV000283465; NMedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031863610318636AG17:g.10318636A>GClinGen:CA153834C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.676G>A (p.Ala226Thr)4626MYH8Uncertain significance-1RCV001120266; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031867410318674CT17:g.10318674C>T-
NM_002472.3(MYH8):c.675C>T (p.Ser225=)4626MYH8Benign/Likely benignrs146651214RCV000338534|RCV000884204; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377|MedGen:CN517202171031867510318675GA17:g.10318675G>AClinGen:CA8388287C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.605C>T (p.Ala202Val)4626MYH8Uncertain significancers886052561RCV000374383; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171031883210318832GA17:g.10318832G>AClinGen:CA10638830C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.578G>A (p.Arg193His)4626MYH8Conflicting interpretations of pathogenicityrs145863180RCV000279822|RCV000502525|RCV000966459; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377|MedGen:CN169374|MedGen:CN517202171031885910318859CT17:g.10318859C>TClinGen:CA8388313
NM_002472.3(MYH8):c.501C>T (p.Phe167=)4626MYH8Uncertain significancers772296874RCV000334972; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032197210321972GA17:g.10321972G>AClinGen:CA8388363C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.399G>T (p.Trp133Cys)4626MYH8Uncertain significance-1RCV001120565; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032207410322074CA17:g.10322074C>A-
NM_002472.3(MYH8):c.304C>G (p.Pro102Ala)4626MYH8Uncertain significance-1RCV001120566; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032225410322254GC17:g.10322254G>C-
NM_002472.3(MYH8):c.277A>G (p.Met93Val)4626MYH8Uncertain significance-1RCV001120567; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032228110322281TC17:g.10322281T>C-
NM_002472.3(MYH8):c.254C>T (p.Pro85Leu)4626MYH8Uncertain significance-1RCV001120568; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032230410322304GA17:g.10322304G>A-
NM_002472.3(MYH8):c.225G>C (p.Arg75Ser)4626MYH8Benign/Likely benignrs146732664RCV000244704|RCV000910866|RCV001120569; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032233310322333CG17:g.10322333C>GClinGen:CA8388434CN169374 not specified;
NM_002472.3(MYH8):c.203G>T (p.Gly68Val)4626MYH8Uncertain significancers886052562RCV000391045; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032334210323342CA17:g.10323342C>AClinGen:CA10648517C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.172G>C (p.Glu58Gln)4626MYH8Uncertain significance-1RCV001115654; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032337310323373CG17:g.10323373C>G-
NM_002472.3(MYH8):c.143C>T (p.Ser48Phe)4626MYH8Conflicting interpretations of pathogenicityrs146669648RCV000965371|RCV001115655; NMedGen:CN517202|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032340210323402GA17:g.10323402G>A-
NM_002472.3(MYH8):c.76C>A (p.Arg26=)4626MYH8Uncertain significance-1RCV001115656; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032346910323469GT17:g.10323469G>T-
NM_002472.3(MYH8):c.59G>A (p.Arg20Gln)4626MYH8Uncertain significance-1RCV001115657; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032348610323486CT17:g.10323486C>T-
NM_002472.3(MYH8):c.-7C>T4626MYH8Uncertain significancers201919885RCV000313692; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032355110323551GA17:g.10323551G>AClinGen:CA8388490C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.-31+9T>C4626MYH8Uncertain significance-1RCV001115658; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032497110324971AG17:g.10324971A>G-
NM_002472.3(MYH8):c.-31G>A4626MYH8Benignrs2277648RCV000349915; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032498010324980CT17:g.10324980C>TClinGen:CA10648521C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.-65C>T4626MYH8Uncertain significancers143129869RCV000405751; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032501410325014GA17:g.10325014G>AClinGen:CA10638834C0265226 158300 Hecht syndrome;
NM_002472.3(MYH8):c.-93T>G4626MYH8Uncertain significance-1RCV001117080; NMONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300, Orphanet:3377171032526510325265AC17:g.10325265A>C-
MSeqDR Portal