MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Parent Node:
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Spinocerebellar Degenerations (D013132)
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Spinocerebellar ataxia 19 (C537198)

       Child Nodes:



 Sister Nodes: 
..expandCorneal cerebellar syndrome (C535472)
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandHereditary spinal ataxia (C531684)
..expandInfantile onset spinocerebellar ataxia (C535523) Child1  LSDB C:1
..expandLICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyoclonic Cerebellar Dyssynergia (D002527) Child1
..expandOlivopontocerebellar Atrophies (D009849) Child15  LSDB C:1
..expandPosterior column ataxia (C536342)
..expandSensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..expandSpinocerebellar ataxia 19 (C537198)
..expandSpinocerebellar ataxia 21 (C537200)
..expandSpinocerebellar ataxia 22 (C542540)
..expandSpinocerebellar ataxia 23 (C537201)
..expandSpinocerebellar ataxia 27 (C537204)
..expandSpinocerebellar Ataxia 29 (C537206)
..expandSpinocerebellar ataxia 8 (C537307)
..expandSpinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
..expandSpinocerebellar ataxia, autosomal recessive 3 (C537309)
..expandSpinocerebellar ataxia, autosomal recessive 4 (C537310)
..expandSpinocerebellar ataxia, autosomal recessive 5 (C537311)
..expandSpinocerebellar ataxia, autosomal recessive 6 (C537312)
..expandSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
..expandSpinocerebellar ataxia, X-linked, 2 (C537314)
..expandSpinocerebellar ataxia, X-linked, 4 (C537316)
..expandSpinocerebellar Ataxias (D020754) Child34  LSDB C:2
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11547
Name:Spinocerebellar ataxia 19
Definition:
Alternative IDs:OMIM:607346
ParentIDs:MESH:D013132
TreeNumbers:C10.228.140.252.700/C537198 |C10.228.854.787/C537198 |C10.574.500.825/C537198 |C16.320.400.780/C537198
Synonyms:SCA19 |SCA22 |SPINOCEREBELLAR ATAXIA 22
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537198
MeSH: C537198
OMIM: 607346;
MSeqDR LSDB:  
Genes: KCND3;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001272Cerebellar atrophy
3 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
HP:0040283
4 HP:0002396Cogwheel rigidityHP:0040283
5 HP:0001260Dysarthria
NAMDC:  Dysarthria
6 HP:0002015Dysphagia
NAMDC:  Dysphagia
7 HP:0002066Gait ataxia
8 HP:0007979Gaze-evoked horizontal nystagmus
9 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
HP:0040283
10 HP:0001265Hyporeflexia
11 HP:0007944Intermittent microsaccadic pursuits
12 HP:0002070Limb ataxia
13 HP:0001336Myoclonus
NAMDC:  Myoclonus
14 HP:0002174Postural tremor
15 HP:0002073Progressive cerebellar ataxia
NAMDC:  Ataxia cerebellar
16 HP:0003677Slow progression
17 HP:0002078Truncal ataxia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr)3752KCND3Uncertain significancers774711788RCV001202743; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318707112318707CT1:g.112318707C>T-
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=)3752KCND3Benign/Likely benignrs147087785RCV000640970|RCV000618336|RCV001088457; NMedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318708112318708GA1:g.112318708G>AClinGen:CA1007307CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala)3752KCND3Uncertain significancers760907112RCV001327715; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318721112318721AG112318721-
NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser)3752KCND3Uncertain significancers766562520RCV001226500; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318724112318724TC1:g.112318724T>C-
NM_001378969.1(KCND3):c.1934T>C (p.Ile645Thr)3752KCND3Uncertain significancers1557929628RCV000702238; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318733112318733AG1:g.112318733A>G-C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe)3752KCND3Uncertain significancers754759010RCV000640966|RCV001266788; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MeSH:D030342,MedGen:C09501231112318743112318743TA1:g.112318743T>AClinGen:CA1007314C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1917C>A (p.Asn639Lys)3752KCND3Uncertain significancers777172603RCV000544304; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318750112318750GTNC_000001.10:g.112318750G>TClinGen:CA1007317C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1895C>T (p.Pro632Leu)3752KCND3Uncertain significance-1RCV001920263; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318772112318772GA112318772-
NM_001378969.1(KCND3):c.1890G>A (p.Arg630=)3752KCND3Benign-1RCV001516541; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318777112318777CT112318777-
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)3752KCND3Uncertain significancers774713377RCV001203107; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318778112318778CT1:g.112318778C>T-
NM_001378969.1(KCND3):c.1885A>T (p.Ser629Cys)3752KCND3Uncertain significance-1RCV001986123; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318782112318782TA112318782-
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg)3752KCND3Uncertain significancers372362132RCV000801617; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318788112318788CT1:g.112318788C>T-
NM_001378969.1(KCND3):c.1873C>T (p.Pro625Ser)3752KCND3Uncertain significance-1RCV001885659; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318794112318794GA112318794-
NM_001378969.1(KCND3):c.1865C>T (p.Ala622Val)3752KCND3Likely benign-1RCV001478107; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318802112318802GA112318802-
NM_001378969.1(KCND3):c.1864G>T (p.Ala622Ser)3752KCND3Uncertain significance-1RCV001366954; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318803112318803CA112318803-
NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala)3752KCND3Uncertain significance-1RCV001918372; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318806112318806GC112318806-
NM_001378969.1(KCND3):c.1859C>A (p.Pro620His)3752KCND3Uncertain significance-1RCV001969736; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318808112318808GT112318808-
NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val)3752KCND3Uncertain significancers948125814RCV000640965; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318818112318818TC1:g.112318818T>CClinGen:CA28896122C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)3752KCND3Uncertain significancers149344567RCV000172843|RCV000619002|RCV000712060|RCV001370775; NMONDO:MONDO:0014621,MedGen:C4225340,OMIM:616399, Orphanet:130|MedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318869112318869CT1:g.112318869C>TClinGen:CA052108,UniProtKB:Q9UK17#VAR_067696,OMIM:605411.0006C4225340 616399 Brugada syndrome 9;
NM_001378969.1(KCND3):c.1794C>T (p.Asp598=)3752KCND3Benign/Likely benignrs181971539RCV000712059|RCV001441664; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318873112318873GANC_000001.10:g.112318873G>A-
NM_001378969.1(KCND3):c.1784T>G (p.Leu595Trp)3752KCND3Uncertain significancers1483036958RCV000811749; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318883112318883AC1:g.112318883A>C-
NM_001378969.1(KCND3):c.1772C>G (p.Ser591Cys)3752KCND3Uncertain significance-1RCV002039779; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318895112318895GC112318895-
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His)3752KCND3Conflicting interpretations of pathogenicityrs186194682RCV000712058|RCV001233302; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112318898112318898CTNC_000001.10:g.112318898C>T-
NM_001378969.1(KCND3):c.1766+3G>A3752KCND3Likely benignrs748524463RCV000865219|RCV001437574; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319645112319645CT1:g.112319645C>T-
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)3752KCND3Uncertain significancers778053688RCV000621723|RCV000678953|RCV000801665; NMedGen:CN230736|MONDO:MONDO:0014621,MedGen:C4225340,OMIM:616399, Orphanet:130|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319658112319658GC1:g.112319658G>CClinGen:CA1007361C4225340 616399 Brugada syndrome 9;
NM_001378969.1(KCND3):c.1752C>A (p.Pro584=)3752KCND3Likely benign-1RCV002086644; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319662112319662GT112319662-
NM_001378969.1(KCND3):c.1745A>G (p.Glu582Gly)3752KCND3Uncertain significance-1RCV001880450; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319669112319669TC112319669-
NM_001378969.1(KCND3):c.1741A>T (p.Ser581Cys)3752KCND3Uncertain significancers1420542041RCV000700474; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319673112319673TANC_000001.10:g.112319673T>A-C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1709T>C (p.Met570Thr)3752KCND3Uncertain significancers1553235743RCV000529534; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319705112319705AGNC_000001.10:g.112319705A>GClinGen:CA341656647C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His)3752KCND3Uncertain significancers200212002RCV000640964|RCV001563036; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN5172021112319711112319711CTNC_000001.10:g.112319711C>TClinGen:CA1007369C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)3752KCND3Uncertain significance-1RCV001982863; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319712112319712GA112319712-
NM_001378969.1(KCND3):c.1672C>T (p.Pro558Ser)3752KCND3Uncertain significance-1RCV001970368; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319742112319742GA112319742-
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)3752KCND3Uncertain significancers151164490RCV001289015|RCV001871726; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319765112319765CT112319765-
NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys)3752KCND3Uncertain significance-1RCV001922966; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319766112319766GA112319766-
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)3752KCND3Conflicting interpretations of pathogenicityrs35027371RCV000243000|RCV000696815; NMedGen:CN230736|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319768112319768CTNC_000001.10:g.112319768C>TClinGen:CA1007379CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.1634C>T (p.Thr545Ile)3752KCND3Uncertain significance-1RCV001368781; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319780112319780GA112319780-
NM_001378969.1(KCND3):c.1601C>T (p.Pro534Leu)3752KCND3Uncertain significancers1553235768RCV000555772; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319813112319813GA1:g.112319813G>AClinGen:CA341657229C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr)3752KCND3Uncertain significancers1447493103RCV001313233; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319814112319814GT112319814-
NM_001378969.1(KCND3):c.1574T>G (p.Met525Arg)3752KCND3Uncertain significance-1RCV001954317; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319840112319840AC112319840-
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)3752KCND3Benign/Likely benignrs145890206RCV000619982|RCV001289014|RCV001354553|RCV001429957; NMedGen:CN230736|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319841112319841TC1:g.112319841T>CClinGen:CA1007384CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala)3752KCND3Uncertain significance-1RCV001890267; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319879112319879TG112319879-
NM_001378969.1(KCND3):c.1525G>A (p.Glu509Lys)3752KCND3Uncertain significance-1RCV001872237; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319889112319889CT112319889-
NM_001378969.1(KCND3):c.1524C>T (p.His508=)3752KCND3Likely benignrs765916708RCV000878080|RCV001412114; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319890112319890GA1:g.112319890G>A-
NM_001378969.1(KCND3):c.1519-4G>T3752KCND3Benignrs72548732RCV000418278|RCV000473349|RCV000618672; NMedGen:CN169374|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN2307361112319899112319899CA1:g.112319899C>AClinGen:CA1007393CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.1519-5C>T3752KCND3Likely benignrs376408039RCV000545631|RCV001488862; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319900112319900GANC_000001.10:g.112319900G>AClinGen:CA1007395C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1519-10C>T3752KCND3Likely benign-1RCV002198687; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319905112319905GA112319905-
NM_001378969.1(KCND3):c.1519-20_1519-18del3752KCND3Likely benign-1RCV002207516; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112319913112319915GAGAG112319912-
NM_001378969.1(KCND3):c.1518+18T>C3752KCND3Likely benign-1RCV002210117; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112321040112321040AG112321040-
NM_001378969.1(KCND3):c.1518+4T>C3752KCND3Uncertain significancers1553235925RCV000640968; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112321054112321054AGNC_000001.10:g.112321054A>GClinGen:CA658795501C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1502G>A (p.Arg501Gln)3752KCND3Uncertain significancers764928165RCV001038365; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112321074112321074CT1:g.112321074C>T-
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys)3752KCND3Uncertain significancers976664434RCV000691029; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112321080112321080GC1:g.112321080G>C-C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)3752KCND3Likely benign-1RCV002139028; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112321084112321084AG112321084-
NM_001378969.1(KCND3):c.1478T>G (p.Val493Gly)3752KCND3Uncertain significancers1216457569RCV001345248; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112321098112321098AC112321098-
NM_001378969.1(KCND3):c.1462-10T>G3752KCND3Uncertain significance-1RCV001986994; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112321124112321124AC112321124-
NM_001378969.1(KCND3):c.1462-13T>C3752KCND3Likely benign-1RCV002071793; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112321127112321127AG112321127-
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)3752KCND3Conflicting interpretations of pathogenicityrs149008060RCV000482547|RCV000786333|RCV001079066; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112322852112322852TCNC_000001.10:g.112322852T>CClinGen:CA1007433CN169374 not specified;
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg)3752KCND3Uncertain significancers1571626155RCV000992220|RCV001214863; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112322881112322881TC1:g.112322881T>C-
NM_001378969.1(KCND3):c.1418A>T (p.Glu473Val)3752KCND3Uncertain significance-1RCV002048119; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112322890112322890TA112322890-
NM_001378969.1(KCND3):c.1393A>G (p.Met465Val)3752KCND3Uncertain significance-1RCV002011718; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112322915112322915TC112322915-
NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys)3752KCND3Uncertain significancers1571626257RCV001231433; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112322921112322921CT1:g.112322921C>T-
NM_001378969.1(KCND3):c.1372-6dup3752KCND3Conflicting interpretations of pathogenicityrs769051410RCV000994071|RCV001701280|RCV002068717; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112322941112322942TTA1:g.112322941_112322942insA-
NM_001378969.1(KCND3):c.1372-6T>C3752KCND3Likely benignrs765435324RCV000640969; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112322942112322942AGNC_000001.10:g.112322942A>GClinGen:CA1007443C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1371+5G>T3752KCND3Uncertain significance-1RCV002011662; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323307112323307CA112323307-
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)3752KCND3Uncertain significancers199637120RCV000498826|RCV000505597|RCV001857017; NMedGen:CN517202|MONDO:MONDO:0014621,MedGen:C4225340,OMIM:616399, Orphanet:130|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323313112323313GA1:g.112323313G>AClinGen:CA1007457C4225340 616399 Brugada syndrome 9;
NM_001378969.1(KCND3):c.1368G>A (p.Leu456=)3752KCND3Likely benign-1RCV002089599; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323315112323315CT112323315-
NM_001378969.1(KCND3):c.1362G>A (p.Leu454=)3752KCND3Likely benign-1RCV002129109; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323321112323321CT112323321-
NM_001378969.1(KCND3):c.1359G>A (p.Ala453=)3752KCND3Likely benignrs762936059RCV000606138|RCV001443461; NMedGen:CN169374|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323324112323324CT1:g.112323324C>TClinGen:CA1007464CN169374 not specified;
NM_001378969.1(KCND3):c.1353C>T (p.Asn451=)3752KCND3Likely benign-1RCV002157266; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323330112323330GA112323330-
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)3752KCND3Conflicting interpretations of pathogenicityrs150401343RCV000172842|RCV000415916|RCV000552635|RCV000618307; NMONDO:MONDO:0014621,MedGen:C4225340,OMIM:616399, Orphanet:130|MedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN2307361112323335112323335GANC_000001.10:g.112323335G>AClinGen:CA200129,UniProtKB:Q9UK17#VAR_073831,OMIM:605411.0005C4225340 616399 Brugada syndrome 9;
NM_001378969.1(KCND3):c.1339A>G (p.Asn447Asp)3752KCND3Uncertain significancers1571626928RCV000821670; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323344112323344TC1:g.112323344T>C-
NM_001378969.1(KCND3):c.1336C>T (p.Arg446Cys)3752KCND3Uncertain significancers756087542RCV000640967; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323347112323347GANC_000001.10:g.112323347G>AClinGen:CA1007468C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=)3752KCND3Benignrs17215458RCV000436391|RCV000469000|RCV000617945; NMedGen:CN169374|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN2307361112323360112323360GA1:g.112323360G>AClinGen:CA1007469CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.1313C>G (p.Ser438Trp)3752KCND3Uncertain significancers1172444288RCV000542424; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323370112323370GCNC_000001.10:g.112323370G>CClinGen:CA341659216C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1313C>T (p.Ser438Leu)3752KCND3Uncertain significance-1RCV001768442; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323370112323370GA112323370-
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=)3752KCND3Benign/Likely benignrs190703406RCV000532262|RCV000607881|RCV001697310; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN169374|MedGen:CN5172021112323375112323375GC1:g.112323375G>CClinGen:CA1007471CN169374 not specified;
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)3752KCND3Conflicting interpretations of pathogenicityrs771703569RCV000619969|RCV000992219|RCV001226501; NMedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323391112323391CT1:g.112323391C>TClinGen:CA1007474CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.1292G>T (p.Arg431Leu)3752KCND3Uncertain significance-1RCV002047753; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323391112323391CA112323391-
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys)3752KCND3Likely pathogenic-1RCV001849200; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323392112323392GA112323392-
NM_001378969.1(KCND3):c.1270-6T>C3752KCND3Likely benign-1RCV001475014; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112323419112323419AG112323419-
NM_001378969.1(KCND3):c.1269+18G>A3752KCND3Likely benign-1RCV002192924; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329548112329548CT112329548-
NM_001378969.1(KCND3):c.1269+15C>A3752KCND3Benignrs3738298RCV000254436|RCV002058177; NMedGen:CN169374|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329551112329551GTNC_000001.10:g.112329551G>TClinGen:CA1007494CN169374 not specified;
NM_001378969.1(KCND3):c.1269+14G>A3752KCND3Likely benign-1RCV002120984; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329552112329552CT112329552-
NM_001378969.1(KCND3):c.1269+13C>T3752KCND3Benign/Likely benignrs72548726RCV000605085|RCV002065242; NMedGen:CN169374|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329553112329553GA1:g.112329553G>AClinGen:CA1007497CN169374 not specified;
NM_001378969.1(KCND3):c.1269+6C>T3752KCND3Uncertain significancers1060502174RCV000468354; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329560112329560GANC_000001.10:g.112329560G>AClinGen:CA16609856C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)3752KCND3Conflicting interpretations of pathogenicityrs786205867RCV000172844|RCV000444260|RCV000460804; NMONDO:MONDO:0014621,MedGen:C4225340,OMIM:616399, Orphanet:130|MedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329661112329661CT1:g.112329661C>TClinGen:CA200132,UniProtKB:Q9UK17#VAR_067694,OMIM:605411.0007C4225340 616399 Brugada syndrome 9;
NM_001378969.1(KCND3):c.1173C>T (p.Gly391=)3752KCND3Likely benign-1RCV001410791; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329662112329662GA112329662-
NM_001378969.1(KCND3):c.1173C>A (p.Gly391=)3752KCND3Likely benign-1RCV002116914; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329662112329662GT112329662-
NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn)3752KCND3Conflicting interpretations of pathogenicityrs397515478RCV000056301|RCV001849175; NMedGen:C2986382|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329666112329666CT1:g.112329666C>TClinGen:CA144862,UniProtKB:Q9UK17#VAR_070791,OMIM:605411.0004
NM_001378969.1(KCND3):c.1167G>A (p.Leu389=)3752KCND3Likely benignrs1571636426RCV000928254|RCV001434154; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329668112329668CT1:g.112329668C>T-
NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro)3752KCND3Pathogenicrs1057519453RCV000416456; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329682112329682AG1:g.112329682A>GClinGen:CA16044213C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1149C>T (p.Phe383=)3752KCND3Likely benignrs760817061RCV000617884|RCV001430427; NMedGen:CN230736|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329686112329686GA1:g.112329686G>AClinGen:CA1007502CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.1146C>A (p.Ile382=)3752KCND3Likely benign-1RCV001458840; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329689112329689GT112329689-
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=)3752KCND3Benign/Likely benignrs148428571RCV000887628|RCV001517336; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329704112329704CA1:g.112329704C>AClinGen:CA1007505CN169374 not specified;
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)3752KCND3Pathogenicrs1571636501RCV000853621|RCV001268117; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN5172021112329705112329705GA1:g.112329705G>A-
NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser)3752KCND3Pathogenicrs1571636508RCV000853620; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329712112329712GA1:g.112329712G>A-
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)3752KCND3Pathogenic/Likely pathogenicrs1057521793RCV000430266|RCV000757925; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112329724112329724CT1:g.112329724C>TClinGen:CA16603398CN517202 not provided;
NM_001378969.1(KCND3):c.1107-47915C>T3752KCND3Benign-1RCV002132247; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112377643112377643GA112377643-
NC_000001.10:g.(?_112524223)_(112525348_?)dup3752KCND3Uncertain significance-1RCV001920565; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524223112525348nana-1-
NM_001378969.1(KCND3):c.1106+11G>T3752KCND3Likely benign-1RCV002144770; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524232112524232CA112524232-
NM_001378969.1(KCND3):c.1106+10C>T3752KCND3Benign/Likely benignrs377267051RCV000610492|RCV000712057|RCV001457195; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524233112524233GA1:g.112524233G>AClinGen:CA1007522CN169374 not specified;
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)3752KCND3Likely pathogenicrs867628133RCV001027678; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524279112524279GA1:g.112524279G>A-
NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp)3752KCND3Uncertain significancers867628133RCV001300818; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524279112524279GC112524279-
NM_001378969.1(KCND3):c.1065T>A (p.Pro355=)3752KCND3Likely benign-1RCV001419862; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524284112524284AT112524284-
NM_001378969.1(KCND3):c.1063C>T (p.Pro355Ser)3752KCND3Uncertain significance-1RCV001761499; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524286112524286GA112524286-
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=)3752KCND3Benign/Likely benignrs150934088RCV000617822|RCV000712056|RCV001392551|RCV001700124; NMedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN1693741112524287112524287GTNC_000001.10:g.112524287G>TClinGen:CA1007524CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro)3752KCND3Pathogenicrs397515476RCV000056299|RCV001268855; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN5172021112524295112524295TG1:g.112524295T>GUniProtKB:Q9UK17#VAR_070788,OMIM:605411.0002,ClinGen:CA264792C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)3752KCND3Conflicting interpretations of pathogenicityrs369361457RCV000865371|RCV001402272; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524308112524308CT1:g.112524308C>T-
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val)3752KCND3Pathogenicrs797045634RCV000194577; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524315112524315CANC_000001.10:g.112524315C>AClinGen:CA277344,UniProtKB:Q9UK17#VAR_070787C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.1026C>G (p.Ala342=)3752KCND3Likely benign-1RCV001458831; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524323112524323GC112524323-
NM_001378969.1(KCND3):c.1017G>A (p.Met339Ile)3752KCND3Uncertain significance-1RCV001940279; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524332112524332CT112524332-
NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu)3752KCND3Pathogenicrs1571939827RCV000853619; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524336112524336AT1:g.112524336A>T-
NM_001378969.1(KCND3):c.999C>T (p.Ile333=)3752KCND3Likely benign-1RCV002071140; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524350112524350GA112524350-
NM_001378969.1(KCND3):c.969T>C (p.Phe323=)3752KCND3Likely benign-1RCV002200006; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524380112524380AG112524380-
NM_001378969.1(KCND3):c.957C>G (p.Ser319=)3752KCND3Benignrs61733426RCV000465050|RCV000603249|RCV000618250; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN169374|MedGen:CN2307361112524392112524392GCNC_000001.10:g.112524392G>CClinGen:CA1007530CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.957C>T (p.Ser319=)3752KCND3Benign/Likely benignrs61733426RCV000712071|RCV001475879; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524392112524392GANC_000001.10:g.112524392G>A-
NM_001378969.1(KCND3):c.950G>A (p.Cys317Tyr)3752KCND3Pathogenicrs1571939905RCV000853618; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524399112524399CT1:g.112524399C>T-
NM_001378969.1(KCND3):c.930G>A (p.Leu310=)3752KCND3Uncertain significancers577883061RCV001301777; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524419112524419CT112524419-
NM_001378969.1(KCND3):c.917G>A (p.Gly306Asp)3752KCND3Uncertain significance-1RCV002001018; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524432112524432CT112524432-
NM_001378969.1(KCND3):c.878G>A (p.Arg293His)3752KCND3Uncertain significancers1674965278RCV001342147; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524471112524471CT112524471-
NM_001378969.1(KCND3):c.870G>T (p.Arg290=)3752KCND3Benignrs200894990RCV000473194; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524479112524479CANC_000001.10:g.112524479C>AClinGen:CA1007540C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln)3752KCND3Likely pathogenicrs1674966041RCV001253322; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524480112524480CT1:g.112524480C>T-
NM_001378969.1(KCND3):c.837C>T (p.Asn279=)3752KCND3Likely benign-1RCV001447584; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524512112524512GA112524512-
NM_001378969.1(KCND3):c.806C>G (p.Pro269Arg)3752KCND3Uncertain significance-1RCV001809143; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524543112524543GC112524543-
NM_001378969.1(KCND3):c.789C>T (p.Asp263=)3752KCND3Benignrs373264592RCV000861574|RCV001522832|RCV001664490; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN1693741112524560112524560GA1:g.112524560G>A-
NM_001378969.1(KCND3):c.786C>T (p.Ile262=)3752KCND3Benign/Likely benignrs369172530RCV000608500|RCV001521120; NMedGen:CN169374|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524563112524563GA1:g.112524563G>AClinGen:CA1007550CN169374 not specified;
NM_001378969.1(KCND3):c.739G>A (p.Ala247Thr)3752KCND3Uncertain significance-1RCV001887142; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524610112524610CT112524610-
NM_001378969.1(KCND3):c.727C>T (p.Leu243=)3752KCND3Likely benignrs769885163RCV000614200|RCV001171759|RCV001493410; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524622112524622GA1:g.112524622G>AClinGen:CA1007558CN169374 not specified;
NM_001378969.1(KCND3):c.715G>C (p.Val239Leu)3752KCND3Uncertain significance-1RCV002027009; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524634112524634CG112524634-
NM_001378969.1(KCND3):c.696G>A (p.Ala232=)3752KCND3Benign/Likely benignrs370453605RCV000712068|RCV001435759; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524653112524653CTNC_000001.10:g.112524653C>T-
NM_001378969.1(KCND3):c.693G>C (p.Thr231=)3752KCND3Likely benignrs749849320RCV000621941|RCV000866663|RCV001411213; NMedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524656112524656CG1:g.112524656C>GClinGen:CA1007565CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del)3752KCND3Pathogenicrs397515475RCV000056298|RCV001268494; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN5172021112524667112524669CAGAC1:g.112524667_112524669delClinGen:CA264789,OMIM:605411.0001C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.669G>C (p.Ser223=)3752KCND3Benignrs17215423RCV000234137|RCV000443256|RCV000620407; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN169374|MedGen:CN2307361112524680112524680CGNC_000001.10:g.112524680C>GClinGen:CA1007568CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.660G>A (p.Glu220=)3752KCND3Likely benign-1RCV002025182; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524689112524689CT112524689-
NM_001378969.1(KCND3):c.651G>A (p.Pro217=)3752KCND3Likely benignrs186974111RCV000603771|RCV001411201; NMedGen:CN169374|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524698112524698CT1:g.112524698C>TClinGen:CA1007572CN169374 not specified;
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)3752KCND3Conflicting interpretations of pathogenicityrs142744204RCV000208485|RCV000249346|RCV000558965|RCV001555788; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN5172021112524708112524708TC1:g.112524708T>CClinGen:CA354891CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.633G>T (p.Pro211=)3752KCND3Benign/Likely benignrs35131566RCV000712067|RCV001089194; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524716112524716CA1:g.112524716C>AClinGen:CA1007575CN169374 not specified;
NM_001378969.1(KCND3):c.627G>C (p.Thr209=)3752KCND3Benign/Likely benignrs149299911RCV000253469|RCV000457933|RCV000605395|RCV001701983; NMedGen:CN230736|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN169374|MedGen:CN5172021112524722112524722CGNC_000001.10:g.112524722C>GClinGen:CA1007579CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.624C>T (p.Gly208=)3752KCND3Benign-1RCV002099573; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524725112524725GA112524725-
NM_001378969.1(KCND3):c.622G>A (p.Gly208Ser)3752KCND3Uncertain significance-1RCV002049543; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524727112524727CT112524727-
NM_001378969.1(KCND3):c.618G>A (p.Pro206=)3752KCND3Likely benignrs200611538RCV000869630; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524731112524731CT1:g.112524731C>T-
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met)3752KCND3Likely pathogenic-1RCV001647138; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524738112524738GA112524738-
NM_001378969.1(KCND3):c.609G>A (p.Glu203=)3752KCND3Likely benignrs1171946587RCV000919119|RCV001437231; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524740112524740CT1:g.112524740C>T-
NM_001378969.1(KCND3):c.600C>T (p.Asn200=)3752KCND3Likely benign-1RCV002218120; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524749112524749GA112524749-
NM_001378969.1(KCND3):c.576C>T (p.Phe192=)3752KCND3Likely benignrs759120826RCV000876674|RCV001445244; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524773112524773GA1:g.112524773G>A-
NM_001378969.1(KCND3):c.551T>C (p.Val184Ala)3752KCND3Uncertain significance-1RCV001945914; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524798112524798AG112524798-
NM_001378969.1(KCND3):c.522G>A (p.Glu174=)3752KCND3Likely benign-1RCV001443413; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524827112524827CT112524827-
NM_001378969.1(KCND3):c.519C>T (p.Phe173=)3752KCND3Likely benignrs144600384RCV000863811; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524830112524830GA1:g.112524830G>A-
NM_001378969.1(KCND3):c.514G>A (p.Ala172Thr)3752KCND3Uncertain significancers149488365RCV000620664|RCV001868114; NMedGen:CN230736|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524835112524835CT1:g.112524835C>TClinGen:CA29326299CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.492C>T (p.Ser164=)3752KCND3Likely benign-1RCV001663483|RCV002073092; NMedGen:CN169374|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524857112524857GA112524857-
NM_001378969.1(KCND3):c.478A>G (p.Met160Val)3752KCND3Uncertain significance-1RCV001871015; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524871112524871TC112524871-
NM_001378969.1(KCND3):c.459G>A (p.Ser153=)3752KCND3Benign/Likely benignrs755206508RCV000712064|RCV001079409; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524890112524890CT1:g.112524890C>TClinGen:CA1007594CN169374 not specified;
NM_001378969.1(KCND3):c.448G>A (p.Asp150Asn)3752KCND3Uncertain significancers1488410733RCV001040344; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524901112524901CT1:g.112524901C>T-
NM_001378969.1(KCND3):c.447C>T (p.Asp149=)3752KCND3Likely benignrs1553187519RCV000619312|RCV001497688; NMedGen:CN230736|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524902112524902GA1:g.112524902G>AClinGen:CA419708636CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.446A>G (p.Asp149Gly)3752KCND3Uncertain significancers1217571134RCV000518105|RCV001296003; NMedGen:CN169374|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524903112524903TCNC_000001.10:g.112524903T>CClinGen:CA341822125CN169374 not specified;
NM_001378969.1(KCND3):c.436C>T (p.Arg146Trp)3752KCND3Uncertain significance-1RCV001931429; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524913112524913GA112524913-
NM_001378969.1(KCND3):c.399C>T (p.Tyr133=)3752KCND3Likely benign-1RCV002119742; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524950112524950GA112524950-
NM_001378969.1(KCND3):c.386G>C (p.Gly129Ala)3752KCND3Uncertain significancers1675001550RCV001210201; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112524963112524963CG1:g.112524963C>G-
NM_001378969.1(KCND3):c.375G>A (p.Pro125=)3752KCND3Benignrs2289723RCV000419505|RCV000459525|RCV000618142; NMedGen:CN169374|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN2307361112524974112524974CT1:g.112524974C>TClinGen:CA1007606CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.348C>T (p.Asp116=)3752KCND3Likely benign-1RCV002111139; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525001112525001GA112525001-
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn)3752KCND3Uncertain significancers766584545RCV001235255; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525003112525003CT1:g.112525003C>T-
NM_001378969.1(KCND3):c.339C>T (p.Ala113=)3752KCND3Likely benign-1RCV001495689; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525010112525010GA112525010-
NM_001378969.1(KCND3):c.324C>T (p.Tyr108=)3752KCND3Likely benign-1RCV002081118; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525025112525025GA112525025-
NM_001378969.1(KCND3):c.321C>A (p.Arg107=)3752KCND3Likely benignrs746952612RCV001289016|RCV002070087; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525028112525028GT112525028-
NM_001378969.1(KCND3):c.318G>A (p.Pro106=)3752KCND3Likely benign-1RCV001410054; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525031112525031CT112525031-
NM_001378969.1(KCND3):c.264C>T (p.Pro88=)3752KCND3Benignrs17221819RCV000117317|RCV000621441|RCV001513005; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525085112525085GA1:g.112525085G>AClinGen:CA153261CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.257G>A (p.Arg86Gln)3752KCND3Uncertain significancers1571941606RCV000850227; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525092112525092CT1:g.112525092C>T-
NM_001378969.1(KCND3):c.256C>G (p.Arg86Gly)3752KCND3Uncertain significancers754042199RCV001242995; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525093112525093GC1:g.112525093G>C-
NM_001378969.1(KCND3):c.207G>A (p.Thr69=)3752KCND3Benign/Likely benignrs751347311RCV000712061|RCV001087318; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525142112525142CTNC_000001.10:g.112525142C>T-
NM_001378969.1(KCND3):c.117T>C (p.Asp39=)3752KCND3Benign/Likely benignrs12720446RCV000472459|RCV000600534|RCV000620105|RCV001696884; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN169374|MedGen:CN230736|MedGen:CN5172021112525232112525232AGNC_000001.10:g.112525232A>GClinGen:CA1007647CN230736 Cardiovascular phenotype;
NM_001378969.1(KCND3):c.110G>C (p.Arg37Pro)3752KCND3Uncertain significance-1RCV002014665; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525239112525239CG112525239-
NM_001378969.1(KCND3):c.98A>T (p.Asp33Val)3752KCND3Uncertain significance-1RCV001969896; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525251112525251TA112525251-
NM_001378969.1(KCND3):c.96C>T (p.Ala32=)3752KCND3Likely benign-1RCV002139683; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525253112525253GA112525253-
NM_001378969.1(KCND3):c.91C>T (p.Pro31Ser)3752KCND3Uncertain significancers1403997481RCV000712070|RCV001370789; NMedGen:CN517202|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525258112525258GA1:g.112525258G>AClinGen:CA341822931CN169374 not specified;
NM_001378969.1(KCND3):c.89C>A (p.Ala30Asp)3752KCND3Uncertain significancers1307934269RCV000537289; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525260112525260GTNC_000001.10:g.112525260G>TClinGen:CA341822935C1846367 607346 Spinocerebellar ataxia 19;
NM_001378969.1(KCND3):c.82C>A (p.Pro28Thr)3752KCND3Uncertain significancers1675024873RCV001317005; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525267112525267GT112525267-
NM_001378969.1(KCND3):c.36C>T (p.Ala12=)3752KCND3Likely benign-1RCV002185795; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525313112525313GA112525313-
NM_001378969.1(KCND3):c.9C>T (p.Ala3=)3752KCND3Likely benignrs777097802RCV000869686; NMONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:987721112525340112525340GA1:g.112525340G>A-
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)3752KCND3Conflicting interpretations of pathogenicityrs201340369RCV000413117|RCV000624729|RCV000618676|RCV001080205|RCV000845314; NMedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:CN230736|MONDO:MONDO:0011819,MedGen:C1846367,OMIM:607346, Orphanet:98772|MedGen:CN5172021112525344112525344GT1:g.112525344G>TClinGen:CA1007663CN230736 Cardiovascular phenotype;
MSeqDR Portal