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Disease Browser
Parent Node:
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Autistic Disorder (D001321)
Parent Node:
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Long QT Syndrome (D008133)
Parent Node:
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Syndactyly (D013576)
..Starting node
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Timothy syndrome (C536962)

       Child Nodes:



 Sister Nodes: 
..expandAcrocephalosyndactylia (D000168) Child11
..expandAphalangia syndactyly microcephaly (C537787)
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..expandAurocephalosyndactyly (C566235)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBonneau Syndrome (C564875)
..expandBrachydactyly-Syndactyly Syndrome (C565193)
..expandEctodermal dysplasia mental retardation syndactyly (C538018)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..expandEyebrows duplication of, with stretchable skin and syndactyly (C536383)
..expandFibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..expandFilippi syndrome (C538152)
..expandFraser Syndrome (D058497)
..expandFrints De Smet Fabry Fryns syndrome (C538062)
..expandGollop Coates syndrome (C537283)
..expandGreen Sandford Davison syndrome (C538221)
..expandKleiner Holmes syndrome (C536885)
..expandKozlowski-Krajewska syndrome (C537615)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLandy Donnai syndrome (C537266)
..expandMartinez Monasterio Pinheiro syndrome (C536027)
..expandNaguib-Richieri-Costa syndrome (C538332)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculodentoosseous dysplasia recessive (C537733)
..expandOrofacial Cleft 7 (C563464)
..expandOrstavik Lindemann Solberg syndrome (C537137)
..expandPavone Fiumara Rizzo syndrome (C536313)
..expandPfeiffer Rockelein syndrome (C537890)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPoland Syndrome (D011045)
..expandPolydactyly, Postaxial, Type A4 (C563909)
..expandPolysyndactyly, Crossed (C566773)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandRadio-ulnar synostosis type 1 (C536268)
..expandRadio-ulnar synostosis type 2 (C536269)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSclerosteosis (C537525)
..expandScott Bryant Graham syndrome (C537528)
..expandShort Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..expandSyndactyly Cenani Lenz type (C538150)
..expandSyndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721)
..expandSyndactyly, type 2 (C538153)
..expandSyndactyly, type 3 (C538154)
..expandSyndactyly, Type I (C566096)
..expandSyndactyly, Type IV (C566092)
..expandSyndactyly, type v (C538155)
..expandSyndactyly-Polydactyly-Earlobe Syndrome (C566091)
..expandTimothy syndrome (C536962)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandTrueb Burg Bottani syndrome (C536565)
..expandWinter Shortland Temple syndrome (C536735)
..expandZerres Rietschel Majewski syndrome (C536724)
..expandZlotogora-Ogur syndrome (C536726)
..expandZygodactyly 1 (C565223)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12181
Name:Timothy syndrome
Definition:
Alternative IDs:DO:DOID:0060173|OMIM:601005
ParentIDs:MESH:D001321|MESH:D008133|MESH:D013576
TreeNumbers:C05.116.099.370.894.819/C536962 |C05.660.585.800/C536962 |C05.660.906.819/C536962 |C14.280.067.565/C536962 |C14.280.123.625/C536962 |C16.131.240.400.715/C536962 |C16.131.621.585.800/C536962 |C16.131.621.906.819/C536962 |C23.550.073.547/C536962 |F03.625.164.113.50
Synonyms:Long Qt Syndrome 8 |Long QT syndrome with syndactyly |LQT8 |TS
Slim Mappings:Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Pathology (process)
Reference: MedGen: C536962
MeSH: C536962
OMIM: 601005;
MSeqDR LSDB:  
Genes: CACNA1C;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0012387BronchitisHP:0040283
3 HP:0001640CardiomegalyHP:0040283
4 HP:0012725Cutaneous syndactyly
5 HP:0005280Depressed nasal bridge
6 HP:0001290Generalized hypotoniaHP:0040283
7 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
8 HP:0001263Global developmental delay
NAMDC:  Mental retardation
9 HP:0002901HypocalcemiaHP:0040283
10 HP:0001943HypoglycemiaHP:0040283
11 HP:0000821Hypothyroidism
NAMDC:  Hypothyroidism
HP:0040283
12 HP:0001249Intellectual disabilityHP:0040283
13 HP:0000691Microdontia
14 HP:0001643Patent ductus arteriosusHP:0040283
15 HP:0001655Patent foramen ovaleHP:0040283
16 HP:0002090PneumoniaHP:0040283
17 HP:0001657Prolonged QT interval
18 HP:0002719Recurrent infections
19 HP:0000311Round face
20 HP:0001250Seizures
NAMDC:  Seizures
HP:0040283
21 HP:0001699Sudden death
22 HP:0001159Syndactyly
23 HP:0001636Tetralogy of FallotHP:0040283
24 HP:0000219Thin upper lip vermilion
25 HP:0001629Ventricular septal defectHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000719.7(CACNA1C):c.-233C>T775CACNA1CUncertain significancers886049148RCV000302976|RCV000391569; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:1301221624962162496CT12:g.2162496C>TClinGen:CA10632354C1142166 Brugada syndrome;
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)775CACNA1CUncertain significancers761378545RCV000170850|RCV000528382|RCV000765075; NMedGen:CN517202|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283; MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:1301221627302162730TC12:g.2162730T>CClinGen:CA301807C0023976 Long QT syndrome;
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)775CACNA1CUncertain significancers769703001RCV000701466|RCV000765082; NMONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283; MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:1301222244052224405GT12:g.2224405G>T-C0023976 Long QT syndrome;
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His)775CACNA1CUncertain significancers200941579RCV000079308|RCV000515652|RCV001048681; NMedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001222244112224411GA12:g.2224411G>AClinGen:CA221354CN169374 not specified;
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)775CACNA1CUncertain significancers535608443RCV000170817|RCV000765083|RCV001036246; NMedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283; MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:130|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001222244382224438AG12:g.2224438A>GClinGen:CA301575CN169374 not specified;
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)775CACNA1CBenign/Likely benignrs34534613RCV000079275|RCV000173030|RCV000306251|RCV000622244|RCV000716165|RCV001082290; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MedGen:CN230736|MedGen:C2711754|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001222244492224449GA12:g.2224449G>AClinGen:CA200237C1142166 Brugada syndrome;
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)775CACNA1CConflicting interpretations of pathogenicityrs752000790RCV000262517|RCV000357698|RCV000761812|RCV000781192|RCV000794589; NMONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001222245422224542GA12:g.2224542G>AClinGen:CA301799
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=)775CACNA1CBenign/Likely benignrs561224137RCV000345641|RCV000390000|RCV000436421|RCV000552154; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001225582432558243CT12:g.2558243C>TClinGen:CA6388479
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala)775CACNA1CLikely pathogenic-1RCV001249681; NMONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:130; MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831225668372566837TC12:g.2566837T>C-
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=)775CACNA1CBenign/Likely benignrs200847105RCV000124069|RCV000310705|RCV000365427|RCV000460955; NMedGen:CN169374|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001225953582595358CT12:g.2595358C>TClinGen:CA289796C1142166 Brugada syndrome;
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter)775CACNA1CLikely pathogenicrs1555672574RCV000988767; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831226025522602552GA12:g.2602552G>A-
NM_000719.7(CACNA1C):c.1114-304G>A775CACNA1CPathogenicrs786205745RCV000170769|RCV000192272; NMedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831226137042613704GA12:g.2613704G>AClinGen:CA301241CN517202 not provided;
NM_000719.7(CACNA1C):c.1114-304G>C775CACNA1CPathogenicrs786205745RCV000170770|RCV000208468; NMedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831226137042613704GC12:g.2613704G>CClinGen:CA301245CN517202 not provided;
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)775CACNA1CPathogenicrs80315385RCV000019200|RCV000058284|RCV000422493; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500, Orphanet:768|MedGen:CN5172021226140982614098GA12:g.2614098G>AClinGen:CA329627,OMIM:114205.0002C1141890 Congenital long QT syndrome;
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)775CACNA1CPathogenicrs79891110RCV000019199|RCV000058285|RCV000170771|RCV000199739|RCV000853375; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500, Orphanet:768|MedGen:CN517202|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|1226141102614110GA12:g.2614110G>AClinGen:CA301246,OMIM:114205.0001C1141890 Congenital long QT syndrome;
NM_000719.7(CACNA1C):c.1217+5G>A775CACNA1CUncertain significance-1RCV001198936; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831226141162614116GA12:g.2614116G>A-
NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn)775CACNA1CUncertain significancers1599718556RCV000790445; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831226591302659130CA12:g.2659130C>A-
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)775CACNA1CConflicting interpretations of pathogenicityrs121912775RCV000019201|RCV000058286|RCV000170775|RCV000334098|RCV000586094|RCV000618330|RCV001085545|RCV001256682; NMONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:130|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MedGen:CN169374|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0002441226591862659186GA12:g.2659186G>AClinGen:CA264819,OMIM:114205.0003C1142166 Brugada syndrome;
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)775CACNA1CConflicting interpretations of pathogenicityrs760888275RCV000170838|RCV000289278|RCV000346531|RCV000618192|RCV001084353; NMedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MedGen:CN230736|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001226661212666121CT12:g.2666121C>TClinGen:CA301719C1142166 Brugada syndrome;
NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln)775CACNA1CUncertain significance-1RCV001197902; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831226756022675602GA12:g.2675602G>A-
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys)775CACNA1CUncertain significancers1057524804RCV000442339|RCV000519272; NMedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831226907772690777CG12:g.2690777C>GClinGen:CA16606579CN169374 not specified;
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys)775CACNA1CUncertain significancers1057524804RCV000678930; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831226907772690777CA12:g.2690777C>A-C1832916 601005 Timothy syndrome;
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro)775CACNA1CUncertain significancers560163331RCV000790446|RCV001093114; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MedGen:CN5172021226937132693713GC12:g.2693713G>C-
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)775CACNA1CUncertain significancers545511851RCV000337286|RCV000808464|RCV000994771; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MedGen:CN5172021226946392694639GA12:g.2694639G>AClinGen:CA6388966
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)775CACNA1CConflicting interpretations of pathogenicityrs575583988RCV000143871|RCV000175406|RCV000718417|RCV000724620|RCV000988768; NMONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MedGen:CN169374|MedGen:C2711754|MedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831227023962702398TGAGT12:g.2702390_2702392delClinGen:CA241148C0023976 Long QT syndrome;
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)775CACNA1CConflicting interpretations of pathogenicityrs730880056RCV000157123|RCV000588534|RCV000678964; NMONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831227024272702427GC12:g.2702427G>CClinGen:CA346203C0023976 Long QT syndrome;
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)775CACNA1CConflicting interpretations of pathogenicityrs730880056RCV000656216|RCV000853602|RCV001057570; NMONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200, Orphanet:907|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001227024272702427GA12:g.2702427G>AClinGen:CA301404C0043202 194200 Wolff-Parkinson-White pattern;
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile)775CACNA1CUncertain significancers766023530RCV000472011|RCV000714636|RCV000853469; NMONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MedGen:C05208061227162712716271GA12:g.2716271G>AClinGen:CA16613714
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)775CACNA1CUncertain significancers373124557RCV000223923|RCV000415626|RCV000463570|RCV000618584|RCV000656705|RCV000725545|RCV000763834; NMedGen:CN169374|MedGen:CN239953|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MedGen:CN230736|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283; 1227198272719827GA12:g.2719827G>AClinGen:CA6389278CN230736 Cardiovascular phenotype;
NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr)775CACNA1CUncertain significancers759934820RCV000988769; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831227740472774047AC12:g.2774047A>C-
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly)775CACNA1CLikely pathogenicrs794727587RCV000177862|RCV000724782; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MedGen:CN5172021227747662774766CG12:g.2774766C>GClinGen:CA346874C1832916 601005 Timothy syndrome;
NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser)775CACNA1CUncertain significance-1RCV001281073; NMONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:130; MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283; MONDO:MONDO:0032756,MedGen:CN260585,OMIM:6184471227747842774784TC12:g.2774784T>C-
NM_000719.7(CACNA1C):c.4727-9G>A775CACNA1CConflicting interpretations of pathogenicityrs757966245RCV000170752|RCV000315543|RCV000370158|RCV000631792; NMedGen:CN169374|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001227836982783698GA12:g.2783698G>AClinGen:CA301129C1142166 Brugada syndrome;
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=)775CACNA1CConflicting interpretations of pathogenicityrs756364065RCV000253383|RCV000275587|RCV000311551|RCV000420944|RCV000864490; NMedGen:CN230736|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001227837412783741GA12:g.2783741G>AClinGen:CA6389611C1142166 Brugada syndrome;
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr)775CACNA1CUncertain significancers370432385RCV000178426|RCV000468918|RCV000522719|RCV000724254; NMedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MedGen:CN5172021227863732786373GA12:g.2786373G>AClinGen:CA245512C0023976 Long QT syndrome;
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr)775CACNA1CConflicting interpretations of pathogenicityrs773930851RCV000317439|RCV001034179; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001227869652786965GA12:g.2786965G>AClinGen:CA6389682
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr)775CACNA1CUncertain significancers368700869RCV000170815|RCV000631689|RCV000853597; NMedGen:CN517202|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831227870072787007GA12:g.2787007G>AClinGen:CA301559C0023976 Long QT syndrome;
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)775CACNA1CConflicting interpretations of pathogenicityrs761966966RCV000631551|RCV000763835|RCV001194037; NMONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:130; MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MedGen:CN1693741227886162788616GA12:g.2788616G>AClinGen:CA6389709C0023976 Long QT syndrome;
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)775CACNA1CConflicting interpretations of pathogenicityrs531161884RCV000170756|RCV000763836|RCV001086159; NMedGen:CN517202|MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:130; MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001227886382788638TC12:g.2788638T>CClinGen:CA301148C0023976 Long QT syndrome;
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln)775CACNA1CUncertain significancers764212214RCV000528554|RCV000618206|RCV000763837; NMONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MedGen:CN230736|MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:130; MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831227917272791727GA12:g.2791727G>AClinGen:CA6389870CN230736 Cardiovascular phenotype;
NM_000719.7(CACNA1C):c.5485GAG[1] (p.Glu1830del)775CACNA1CUncertain significancers1603457578RCV000853594|RCV001245465; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001227917542791756CAGGC12:g.2791754_2791756del-
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala)775CACNA1CUncertain significancers375846068RCV000817497|RCV000994776|RCV001089532; NMONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831227918202791820AC12:g.2791820A>C-
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)775CACNA1CUncertain significancers374528680RCV000171619|RCV000226828|RCV000515185|RCV000617712|RCV000852446|RCV000855639|RCV000988770; NMedGen:CN517202|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283; MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:130|MedGen:CN230736|Human Phenotype Ontology:HP:0001631227953822795382GC12:g.2795382G>CClinGen:CA236625C2678478 611875 Brugada syndrome 3;
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)775CACNA1CUncertain significancers552478740RCV000697996|RCV000763838|RCV000994777; NMONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283; MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:130|MedGen:CN5172021227978292797829GA12:g.2797829G>A-C0023976 Long QT syndrome;
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val)775CACNA1CConflicting interpretations of pathogenicityrs374991642RCV000546112|RCV000618390|RCV000763839|RCV001255539; NMONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500|MedGen:CN230736|MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:130; MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MedGen:CN1693741227978392797839GT12:g.2797839G>TClinGen:CA6390050CN230736 Cardiovascular phenotype;
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)775CACNA1CConflicting interpretations of pathogenicityrs199473660RCV000058289|RCV000148443|RCV000212341|RCV000620928|RCV000678943|RCV000724590|RCV000988771|RCV001086309; NMONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MedGen:CN221547|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875, Orphanet:130|MedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MO1227978682797868GA12:g.2797868G>AClinGen:CA211379C1142166 Brugada syndrome;
NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del)775CACNA1CUncertain significancers886049208RCV000343119|RCV000403966; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:1301228001822800184CCGAC12:g.2800182_2800184delClinGen:CA10632526
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)775CACNA1CConflicting interpretations of pathogenicityrs201090446RCV000357942|RCV000519629|RCV000617693|RCV000678781|RCV000717339|RCV001084051; NMedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MedGen:CN230736|MONDO:MONDO:0020745,MedGen:C0003811,OMIM:115000|MedGen:C2711754|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001228002202800220AG12:g.2800220A>GClinGen:CA339207C0003811 115000 Cardiac arrhythmia;
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)775CACNA1CConflicting interpretations of pathogenicityrs199473392RCV000058290|RCV000170829|RCV000678917|RCV001089169; NMONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MedGen:CN517202|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS1925001228003362800336GA12:g.2800336G>AClinGen:CA264837C1142166 Brugada syndrome;
NM_000719.7(CACNA1C):c.*652_*659GCC[2]GGGAAGGGGCCGCCGG[1]775CACNA1CBenignrs71057834RCV000311296|RCV000394635; NMONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831228010162801017CCGCCGCCGGGAAGGG12:g.2801016_2801017insGCCGCCGGGAAGGGClinGen:CA10640798
NM_000719.7(CACNA1C):c.*1652GAATT[1]775CACNA1CUncertain significancers886049224RCV000332165|RCV000370444; NMONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831228020162802020ATGAATA12:g.2802016_2802020delClinGen:CA10637140C1142166 Brugada syndrome;
NM_000719.7(CACNA1C):c.*2288G>A775CACNA1CLikely benignrs554155021RCV000346466|RCV000396861; NMONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:65283|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:1301228026532802653GA12:g.2802653G>AClinGen:CA10632534C1142166 Brugada syndrome;
NM_000719.7(CACNA1C):c.*5421del775CACNA1CBenignrs10713809RCV000287349|RCV000342355; NMONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144, Orphanet:130|MONDO:MONDO:0010979,MedGen:C1832916,OMIM:601005, Orphanet:652831228057702805770CAC12:g.2805770_2805770delClinGen:CA10641808
MSeqDR Portal