NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 1 [RCV000157133]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000032976] |
Chr14:90401385 [GRCh38] Chr14:90867729 [GRCh37] Chr14:14q32.11 |
pathogenic|likely pathogenic |
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) |
single nucleotide variant |
CALM1-related disorder [RCV004758616]|Cardiovascular phenotype [RCV002433484]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV000157134]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000032977]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000526484]|Catecholaminergic polymorphic ventricular tachycardia [RCV000714909] |
Chr14:90404386 [GRCh38] Chr14:90870730 [GRCh37] Chr14:14q32.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1 |
copy number loss |
See cases [RCV000051551] |
Chr14:90255156..95274696 [GRCh38] Chr14:90721500..95741033 [GRCh37] Chr14:89791253..94810786 [NCBI36] Chr14:14q32.11-32.13 |
pathogenic |
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] |
Chr14:72787506..99596719 [GRCh38] Chr14:73254214..100063056 [GRCh37] Chr14:72323967..99132809 [NCBI36] Chr14:14q24.2-32.2 |
pathogenic |
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 |
copy number gain |
See cases [RCV000052295] |
Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33 |
pathogenic |
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 |
copy number gain |
See cases [RCV000134000] |
Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 |
copy number gain |
See cases [RCV000138230] |
Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 |
copy number gain |
See cases [RCV000052294] |
Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33 |
pathogenic |
NM_006888.6(CALM1):c.421+16C>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005222769]|not provided [RCV000149484] |
Chr14:90404530 [GRCh38] Chr14:90870874 [GRCh37] Chr14:14q32.11 |
benign|likely benign |
NM_006888.6(CALM1):c.72C>T (p.Gly24=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620499]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000652516]|not provided [RCV000149485] |
Chr14:90401296 [GRCh38] Chr14:90867640 [GRCh37] Chr14:14q32.11 |
benign|likely benign|uncertain significance |
NM_006888.6(CALM1):c.157A>G (p.Ile53Val) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000548067] |
Chr14:90401381 [GRCh38] Chr14:90867725 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.179-15del |
deletion |
not specified [RCV000603916] |
Chr14:90403847 [GRCh38] Chr14:90870191 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.69T>C (p.Asp23=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621045]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000530152] |
Chr14:90401293 [GRCh38] Chr14:90867637 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.424T>C (p.Phe142Leu) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001856891]|not provided [RCV000489543] |
Chr14:90404691 [GRCh38] Chr14:90871035 [GRCh37] Chr14:14q32.11 |
pathogenic|likely pathogenic |
GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1 |
copy number loss |
not provided [RCV003312295] |
Chr14:88401076..94725706 [GRCh37] Chr14:14q31.3-32.13 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_006888.6(CALM1):c.389A>G (p.Asp130Gly) |
single nucleotide variant |
Long QT syndrome 14 [RCV000162062]|not provided [RCV001781506] |
Chr14:90404482 [GRCh38] Chr14:90870826 [GRCh37] Chr14:14q32.11 |
pathogenic|likely pathogenic |
NM_006888.6(CALM1):c.426C>G (p.Phe142Leu) |
single nucleotide variant |
Long QT syndrome 14 [RCV000162063] |
Chr14:90404693 [GRCh38] Chr14:90871037 [GRCh37] Chr14:14q32.11 |
pathogenic |
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) |
single nucleotide variant |
Long QT syndrome 14 [RCV000162064] |
Chr14:90403951 [GRCh38] Chr14:90870295 [GRCh37] Chr14:14q32.11 |
pathogenic|likely pathogenic |
NM_006888.6(CALM1):c.313G>A (p.Glu105Lys) |
single nucleotide variant |
not provided [RCV000442999] |
Chr14:90404406 [GRCh38] Chr14:90870750 [GRCh37] Chr14:14q32.11 |
likely pathogenic |
NM_006888.6(CALM1):c.18C>T (p.Thr6=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411409]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001495669]|not provided [RCV000868494] |
Chr14:90400079 [GRCh38] Chr14:90866423 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.4-10C>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000652518]|not provided [RCV001698290]|not specified [RCV004767259] |
Chr14:90400055 [GRCh38] Chr14:90866399 [GRCh37] Chr14:14q32.11 |
benign|likely benign |
NM_006888.6(CALM1):c.178+18A>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002059953]|not specified [RCV000432574] |
Chr14:90401420 [GRCh38] Chr14:90867764 [GRCh37] Chr14:14q32.11 |
benign|likely benign |
NM_006888.6(CALM1):c.324C>T (p.His108=) |
single nucleotide variant |
CALM1-related disorder [RCV003959980]|Cardiovascular phenotype [RCV000621603]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000556220]|not provided [RCV001698289] |
Chr14:90404417 [GRCh38] Chr14:90870761 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.88A>C (p.Thr30Pro) |
single nucleotide variant |
not provided [RCV000431318] |
Chr14:90401312 [GRCh38] Chr14:90867656 [GRCh37] Chr14:14q32.11 |
likely pathogenic |
NM_006888.6(CALM1):c.421+7_421+10del |
deletion |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002063819]|not specified [RCV000483518] |
Chr14:90404519..90404522 [GRCh38] Chr14:90870863..90870866 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.-37_-36dup |
duplication |
not specified [RCV000483763] |
Chr14:90397192..90397193 [GRCh38] Chr14:90863536..90863537 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.67G>T (p.Asp23Tyr) |
single nucleotide variant |
not provided [RCV000483941] |
Chr14:90401291 [GRCh38] Chr14:90867635 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.419A>T (p.Glu140Val) |
single nucleotide variant |
not provided [RCV000483471] |
Chr14:90404512 [GRCh38] Chr14:90870856 [GRCh37] Chr14:14q32.11 |
likely pathogenic |
NM_006888.6(CALM1):c.78C>T (p.Gly26=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004609437]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000540449] |
Chr14:90401302 [GRCh38] Chr14:90867646 [GRCh37] Chr14:14q32.11 |
likely benign|uncertain significance |
NM_006888.6(CALM1):c.303C>T (p.Ile101=) |
single nucleotide variant |
CALM1-related disorder [RCV003945313]|Cardiovascular phenotype [RCV000618235]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000541358]|not provided [RCV000615644]|not specified [RCV001700161] |
Chr14:90404396 [GRCh38] Chr14:90870740 [GRCh37] Chr14:14q32.11 |
benign|likely benign |
NM_006888.6(CALM1):c.422-16dup |
duplication |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002531653]|not specified [RCV000607409] |
Chr14:90404672..90404673 [GRCh38] Chr14:90871016..90871017 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.-32C>T |
single nucleotide variant |
not specified [RCV000616131] |
Chr14:90397199 [GRCh38] Chr14:90863543 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.35-13del |
deletion |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003767648]|not specified [RCV000614298] |
Chr14:90401246 [GRCh38] Chr14:90867590 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.34+19G>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005223066]|not specified [RCV000604632] |
Chr14:90400114 [GRCh38] Chr14:90866458 [GRCh37] Chr14:14q32.11 |
likely benign |
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 |
copy number gain |
See cases [RCV000512497] |
Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33 |
pathogenic |
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 |
copy number loss |
not provided [RCV000683625] |
Chr14:84783137..96908198 [GRCh37] Chr14:14q31.2-32.2 |
pathogenic |
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 |
copy number loss |
Deletion syndrome [RCV001004048] |
Chr14:84783523..96907490 [GRCh37] Chr14:14q31.2-32.2 |
pathogenic |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
NM_006888.6(CALM1):c.285+168C>T |
single nucleotide variant |
not provided [RCV001584028] |
Chr14:90404136 [GRCh38] Chr14:90870480 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.201C>T (p.Pro67=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169484]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002547295] |
Chr14:90403884 [GRCh38] Chr14:90870228 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.106G>C (p.Val36Leu) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001048231] |
Chr14:90401330 [GRCh38] Chr14:90867674 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.179-293C>T |
single nucleotide variant |
not provided [RCV000827673] |
Chr14:90403569 [GRCh38] Chr14:90403569..90403570 [GRCh38] Chr14:90869913 [GRCh37] Chr14:90869913..90869914 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.-86G>A |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001554674]|not provided [RCV000833933] |
Chr14:90397145 [GRCh38] Chr14:90863489 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.4-63C>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001554796]|not provided [RCV000833934] |
Chr14:90400002 [GRCh38] Chr14:90866346 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.4-129A>G |
single nucleotide variant |
not provided [RCV000835789] |
Chr14:90399936 [GRCh38] Chr14:90866280 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.3+298G>T |
single nucleotide variant |
not provided [RCV000829151] |
Chr14:90397531 [GRCh38] Chr14:90863875 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.301A>G (p.Ile101Val) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000798107] |
Chr14:90404394 [GRCh38] Chr14:90870738 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.4(CALM1):c.-372G>T |
single nucleotide variant |
not provided [RCV000843445] |
Chr14:90396859 [GRCh38] Chr14:90863203 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.394G>A (p.Asp132Asn) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000792817] |
Chr14:90404487 [GRCh38] Chr14:90870831 [GRCh37] Chr14:14q32.11 |
pathogenic |
NM_006888.6(CALM1):c.179-88G>A |
single nucleotide variant |
not provided [RCV000834241] |
Chr14:90403774 [GRCh38] Chr14:90870118 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.4(CALM1):c.-390C>T |
single nucleotide variant |
not provided [RCV000829147] |
Chr14:90396841 [GRCh38] Chr14:90863185 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.3+293C>T |
single nucleotide variant |
not provided [RCV000843457] |
Chr14:90397526 [GRCh38] Chr14:90863870 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.-168C>T |
single nucleotide variant |
not provided [RCV000838758] |
Chr14:90397063 [GRCh38] Chr14:90863407 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.34+29G>A |
single nucleotide variant |
not provided [RCV000835790] |
Chr14:90400124 [GRCh38] Chr14:90866468 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.4(CALM1):c.-540G>T |
single nucleotide variant |
not provided [RCV000832770] |
Chr14:90396691 [GRCh38] Chr14:90863035 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.422A>T (p.Glu141Val) |
single nucleotide variant |
Long QT syndrome 14 [RCV001250792] |
Chr14:90404689 [GRCh38] Chr14:90871033 [GRCh37] Chr14:14q32.11 |
pathogenic |
NM_006888.6(CALM1):c.426C>A (p.Phe142Leu) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001235389] |
Chr14:90404693 [GRCh38] Chr14:90871037 [GRCh37] Chr14:14q32.11 |
pathogenic |
NM_006888.6(CALM1):c.286-141A>C |
single nucleotide variant |
not provided [RCV001549661] |
Chr14:90404238 [GRCh38] Chr14:90870582 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.3+331C>A |
single nucleotide variant |
not provided [RCV001570915] |
Chr14:90397564 [GRCh38] Chr14:90863908 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.395A>T (p.Asp132Val) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001219455] |
Chr14:90404488 [GRCh38] Chr14:90870832 [GRCh37] Chr14:14q32.11 |
pathogenic |
NM_006888.6(CALM1):c.178+269del |
deletion |
not provided [RCV001550606] |
Chr14:90401655 [GRCh38] Chr14:90867999 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.178+269dup |
duplication |
not provided [RCV001620431] |
Chr14:90401654..90401655 [GRCh38] Chr14:90867998..90867999 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.178+266_178+269del |
deletion |
not provided [RCV001676842] |
Chr14:90401655..90401658 [GRCh38] Chr14:90867999..90868002 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.-161C>T |
single nucleotide variant |
not provided [RCV001588679] |
Chr14:90397070 [GRCh38] Chr14:90863414 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.35-290_35-288del |
deletion |
not provided [RCV001566627] |
Chr14:90400957..90400959 [GRCh38] Chr14:90867301..90867303 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.280G>C (p.Asp94His) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001216383] |
Chr14:90403963 [GRCh38] Chr14:90870307 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.422A>G (p.Glu141Gly) |
single nucleotide variant |
Long QT syndrome 14 [RCV001250791] |
Chr14:90404689 [GRCh38] Chr14:90871033 [GRCh37] Chr14:14q32.11 |
pathogenic |
GRCh37/hg19 14q32.11(chr14:90648169-91222138)x3 |
copy number gain |
not provided [RCV001259793] |
Chr14:90648169..91222138 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NC_000014.8:g.(?_90870713)_(90871071_?)dup |
duplication |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001372387] |
Chr14:90870713..90871071 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.90A>C (p.Thr30=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001471704] |
Chr14:90401314 [GRCh38] Chr14:90867658 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.426C>T (p.Phe142=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004038514]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001452878] |
Chr14:90404693 [GRCh38] Chr14:90871037 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.421+6dup |
duplication |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001409753] |
Chr14:90404516..90404517 [GRCh38] Chr14:90870860..90870861 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.179-108T>C |
single nucleotide variant |
not provided [RCV001619379] |
Chr14:90403754 [GRCh38] Chr14:90870098 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.267A>G (p.Ala89=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001460258] |
Chr14:90403950 [GRCh38] Chr14:90870294 [GRCh37] Chr14:14q32.11 |
likely benign |
NC_000014.9:g.90397013C>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001510397]|not provided [RCV001675998] |
Chr14:90397013 [GRCh38] Chr14:90863357 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.144_146del (p.Leu49del) |
deletion |
not provided [RCV001755159] |
Chr14:90401368..90401370 [GRCh38] Chr14:90867712..90867714 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.422-6T>G |
single nucleotide variant |
not provided [RCV001772725] |
Chr14:90404683 [GRCh38] Chr14:90871027 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.402C>T (p.Asp134=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004990531]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002025391] |
Chr14:90404495 [GRCh38] Chr14:90870839 [GRCh37] Chr14:14q32.11 |
likely benign |
GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741) |
copy number loss |
not specified [RCV002053117] |
Chr14:88345625..94773741 [GRCh37] Chr14:14q31.3-32.13 |
pathogenic |
NM_006888.6(CALM1):c.319C>T (p.Arg107Cys) |
single nucleotide variant |
not provided [RCV001823392] |
Chr14:90404412 [GRCh38] Chr14:90870756 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.328A>C (p.Met110Leu) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001921674] |
Chr14:90404421 [GRCh38] Chr14:90870765 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.395A>G (p.Asp132Gly) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001934687] |
Chr14:90404488 [GRCh38] Chr14:90870832 [GRCh37] Chr14:14q32.11 |
pathogenic |
NM_006888.6(CALM1):c.322C>G (p.His108Asp) |
single nucleotide variant |
not provided [RCV002224275] |
Chr14:90404415 [GRCh38] Chr14:90870759 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.285+17A>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002107692] |
Chr14:90403985 [GRCh38] Chr14:90870329 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.3+13T>C |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002109168] |
Chr14:90397246 [GRCh38] Chr14:90863590 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.390T>C (p.Asp130=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002111625] |
Chr14:90404483 [GRCh38] Chr14:90870827 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.108C>T (p.Val36=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002129339] |
Chr14:90401332 [GRCh38] Chr14:90867676 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.183T>C (p.Asn61=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002087395] |
Chr14:90403866 [GRCh38] Chr14:90870210 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.285+20G>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002127548] |
Chr14:90403988 [GRCh38] Chr14:90870332 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.287A>G (p.Asp96Gly) |
single nucleotide variant |
not provided [RCV002211276] |
Chr14:90404380 [GRCh38] Chr14:90870724 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.421+8_421+9del |
deletion |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002093230] |
Chr14:90404522..90404523 [GRCh38] Chr14:90870866..90870867 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.34+16C>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002078222] |
Chr14:90400111 [GRCh38] Chr14:90866455 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.118C>T (p.Leu40=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002119011] |
Chr14:90401342 [GRCh38] Chr14:90867686 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.417T>C (p.Tyr139=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002177423] |
Chr14:90404510 [GRCh38] Chr14:90870854 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.34+12A>C |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002218727] |
Chr14:90400107 [GRCh38] Chr14:90866451 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.422-20T>C |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002181356] |
Chr14:90404669 [GRCh38] Chr14:90871013 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.225A>G (p.Arg75=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443211]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002099254]|not provided [RCV004704772] |
Chr14:90403908 [GRCh38] Chr14:90870252 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.87A>C (p.Thr29=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002199124] |
Chr14:90401311 [GRCh38] Chr14:90867655 [GRCh37] Chr14:14q32.11 |
likely benign |
NC_000014.8:g.(?_90429459)_(97347545_?)dup |
duplication |
not provided [RCV003109490] |
Chr14:90429459..97347545 [GRCh37] Chr14:14q32.11-32.2 |
uncertain significance |
NC_000014.8:g.(?_90863575)_(90871061_?)dup |
duplication |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003109575] |
Chr14:90863575..90871061 [GRCh37] Chr14:14q32.11 |
uncertain significance |
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 |
copy number gain |
See cases [RCV002286356] |
Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33 |
pathogenic |
NM_006888.6(CALM1):c.260G>A (p.Arg87His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002437171]|not provided [RCV004812451] |
Chr14:90403943 [GRCh38] Chr14:90870287 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.62A>G (p.Asp21Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368771] |
Chr14:90401286 [GRCh38] Chr14:90867630 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.186C>T (p.Gly62=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415069] |
Chr14:90403869 [GRCh38] Chr14:90870213 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.358G>A (p.Glu120Lys) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002299569] |
Chr14:90404451 [GRCh38] Chr14:90870795 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.4-3T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002333744]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003775885] |
Chr14:90400062 [GRCh38] Chr14:90866406 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.84C>T (p.Ile28=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002447708]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003103511] |
Chr14:90401308 [GRCh38] Chr14:90867652 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.299A>G (p.Tyr100Cys) |
single nucleotide variant |
not provided [RCV002300847] |
Chr14:90404392 [GRCh38] Chr14:90870736 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.18C>G (p.Thr6=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408220] |
Chr14:90400079 [GRCh38] Chr14:90866423 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.57A>G (p.Leu19=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359837] |
Chr14:90401281 [GRCh38] Chr14:90867625 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.34+12A>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003073737] |
Chr14:90400107 [GRCh38] Chr14:90866451 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.35-14A>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002816020] |
Chr14:90401245 [GRCh38] Chr14:90867589 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.213T>C (p.Thr71=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002751570] |
Chr14:90403896 [GRCh38] Chr14:90870240 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.285+15A>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002912653] |
Chr14:90403983 [GRCh38] Chr14:90870327 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.70G>A (p.Gly24Ser) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002923465] |
Chr14:90401294 [GRCh38] Chr14:90867638 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.4-6A>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002889446] |
Chr14:90400059 [GRCh38] Chr14:90866403 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.210G>T (p.Leu70Phe) |
single nucleotide variant |
not provided [RCV002508709] |
Chr14:90403893 [GRCh38] Chr14:90870237 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.285+12T>A |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002624467] |
Chr14:90403980 [GRCh38] Chr14:90870324 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.402C>G (p.Asp134Glu) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003040707] |
Chr14:90404495 [GRCh38] Chr14:90870839 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.35-19G>A |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002829486] |
Chr14:90401240 [GRCh38] Chr14:90867584 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.179-14T>C |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002791955] |
Chr14:90403848 [GRCh38] Chr14:90870192 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.3+10G>C |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002630745] |
Chr14:90397243 [GRCh38] Chr14:90863587 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.421+10A>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002653988] |
Chr14:90404524 [GRCh38] Chr14:90870868 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.179-4C>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003051018] |
Chr14:90403858 [GRCh38] Chr14:90870202 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.4-7C>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002942538] |
Chr14:90400058 [GRCh38] Chr14:90866402 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.198C>T (p.Phe66=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV002654637] |
Chr14:90403881 [GRCh38] Chr14:90870225 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.234A>G (p.Lys78=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004071882]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003069959] |
Chr14:90403917 [GRCh38] Chr14:90870261 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.414C>T (p.Asn138=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003182229] |
Chr14:90404507 [GRCh38] Chr14:90870851 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.179-3G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003182228] |
Chr14:90403859 [GRCh38] Chr14:90870203 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.309A>T (p.Ala103=) |
single nucleotide variant |
not specified [RCV003324152] |
Chr14:90404402 [GRCh38] Chr14:90870746 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.264G>A (p.Glu88=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003358233]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003777452] |
Chr14:90403947 [GRCh38] Chr14:90870291 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.392T>C (p.Ile131Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003377564] |
Chr14:90404485 [GRCh38] Chr14:90870829 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.237T>C (p.Asp79=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003782197] |
Chr14:90403920 [GRCh38] Chr14:90870264 [GRCh37] Chr14:14q32.11 |
likely benign |
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 |
copy number gain |
not provided [RCV003485036] |
Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33 |
pathogenic |
NM_006888.6(CALM1):c.422-15T>C |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003786010] |
Chr14:90404674 [GRCh38] Chr14:90871018 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.3+14G>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003795267] |
Chr14:90397247 [GRCh38] Chr14:90863591 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.327C>T (p.Val109=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003795674] |
Chr14:90404420 [GRCh38] Chr14:90870764 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.27G>A (p.Gln9=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003795923] |
Chr14:90400088 [GRCh38] Chr14:90866432 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.336C>T (p.Asn112=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003784512] |
Chr14:90404429 [GRCh38] Chr14:90870773 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.422-19A>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003793759] |
Chr14:90404670 [GRCh38] Chr14:90871014 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.150G>A (p.Gln50=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003784201] |
Chr14:90401374 [GRCh38] Chr14:90867718 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.179-9dup |
duplication |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003787120] |
Chr14:90403847..90403848 [GRCh38] Chr14:90870191..90870192 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.398G>C (p.Gly133Ala) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003812925] |
Chr14:90404491 [GRCh38] Chr14:90870835 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.286-9T>C |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003815409] |
Chr14:90404370 [GRCh38] Chr14:90870714 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.318A>G (p.Leu106=) |
single nucleotide variant |
not provided [RCV004547062] |
Chr14:90404411 [GRCh38] Chr14:90870755 [GRCh37] Chr14:14q32.11 |
likely benign |
NC_000014.8:g.(?_90863575)_(90871061_?)del |
deletion |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV004578157] |
Chr14:90863575..90871061 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.419A>C (p.Glu140Ala) |
single nucleotide variant |
not provided [RCV004760067] |
|
uncertain significance |
NM_006888.6(CALM1):c.382G>C (p.Glu128Gln) |
single nucleotide variant |
not provided [RCV004770505] |
Chr14:90404475 [GRCh38] Chr14:90870819 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.398G>T (p.Gly133Val) |
single nucleotide variant |
Long QT syndrome [RCV004775600] |
Chr14:90404491 [GRCh38] Chr14:90870835 [GRCh37] Chr14:14q32.11 |
likely pathogenic |
NM_006888.6(CALM1):c.275T>C (p.Val92Ala) |
single nucleotide variant |
not provided [RCV004768302] |
Chr14:90403958 [GRCh38] Chr14:90870302 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.240A>G (p.Thr80=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005214469] |
Chr14:90403923 [GRCh38] Chr14:90870267 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.3+15G>A |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005228949] |
Chr14:90397248 [GRCh38] Chr14:90863592 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.35-11T>A |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005226884] |
Chr14:90401248 [GRCh38] Chr14:90867592 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.258C>A (p.Ile86=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005225820] |
Chr14:90403941 [GRCh38] Chr14:90870285 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.243T>C (p.Asp81=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005209841] |
Chr14:90403926 [GRCh38] Chr14:90870270 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.154A>G (p.Met52Val) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005210043] |
Chr14:90401378 [GRCh38] Chr14:90867722 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.4-6A>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005229490] |
Chr14:90400059 [GRCh38] Chr14:90866403 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.422-16_422-12del |
deletion |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005228174] |
Chr14:90404669..90404673 [GRCh38] Chr14:90871013..90871017 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.4-9T>C |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005225814] |
Chr14:90400056 [GRCh38] Chr14:90866400 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.4-15del |
deletion |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005210665] |
Chr14:90400047 [GRCh38] Chr14:90866391 [GRCh37] Chr14:14q32.11 |
benign |
NM_006888.6(CALM1):c.405A>G (p.Gly135=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005222216] |
Chr14:90404498 [GRCh38] Chr14:90870842 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.35-44_77dup |
duplication |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005221609] |
Chr14:90401212..90401213 [GRCh38] Chr14:90867556..90867557 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.35-12_35-11delinsCC |
indel |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005218186] |
Chr14:90401247..90401248 [GRCh38] Chr14:90867591..90867592 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.422-10G>A |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005224249] |
Chr14:90404679 [GRCh38] Chr14:90871023 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.411C>A (p.Val137=) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005223977] |
Chr14:90404504 [GRCh38] Chr14:90870848 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.422-8C>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005224011] |
Chr14:90404681 [GRCh38] Chr14:90871025 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.286-18A>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005218795] |
Chr14:90404361 [GRCh38] Chr14:90870705 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.199C>T (p.Pro67Ser) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005221301] |
Chr14:90403882 [GRCh38] Chr14:90870226 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.286-20C>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005218967] |
Chr14:90404359 [GRCh38] Chr14:90870703 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.293A>T (p.Asn98Ile) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV005221612] |
Chr14:90404386 [GRCh38] Chr14:90870730 [GRCh37] Chr14:14q32.11 |
uncertain significance |
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 |
copy number gain |
See cases [RCV000448557] |
Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_006888.6(CALM1):c.398G>A (p.Gly133Glu) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000652517] |
Chr14:90404491 [GRCh38] Chr14:90870835 [GRCh37] Chr14:14q32.11 |
likely pathogenic |
NM_006888.6(CALM1):c.273A>G (p.Arg91=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004025870]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000652519] |
Chr14:90403956 [GRCh38] Chr14:90870300 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.411C>G (p.Val137=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002325311]|Catecholaminergic polymorphic ventricular tachycardia 4 [RCV000652520] |
Chr14:90404504 [GRCh38] Chr14:90870848 [GRCh37] Chr14:14q32.11 |
likely benign |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_006888.6(CALM1):c.285+110G>A |
single nucleotide variant |
not provided [RCV001581821] |
Chr14:90404078 [GRCh38] Chr14:90870422 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.35-289_35-288del |
deletion |
not provided [RCV001612489] |
Chr14:90400957..90400958 [GRCh38] Chr14:90867301..90867302 [GRCh37] Chr14:14q32.11 |
benign |
NM_001363669.2(CALM1):c.-106+211G>C |
single nucleotide variant |
not provided [RCV001564509] |
Chr14:90396869 [GRCh38] Chr14:90863213 [GRCh37] Chr14:14q32.11 |
likely benign |
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 |
copy number gain |
not provided [RCV002472581] |
Chr14:84537502..107285437 [GRCh37] Chr14:14q31.2-32.33 |
pathogenic |
NM_006888.6(CALM1):c.-123G>T |
single nucleotide variant |
not provided [RCV001589868] |
Chr14:90397108 [GRCh38] Chr14:90863452 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.4-9T>A |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV001404174] |
Chr14:90400056 [GRCh38] Chr14:90866400 [GRCh37] Chr14:14q32.11 |
likely benign |
NC_000014.8:g.(?_90429459)_(94856914_?)dup |
duplication |
Achondrogenesis, type IA [RCV003113413] |
Chr14:90429459..94856914 [GRCh37] Chr14:14q32.11-32.13 |
uncertain significance |
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 |
copy number gain |
not provided [RCV002472541] |
Chr14:81593708..97059276 [GRCh37] Chr14:14q31.1-32.2 |
likely pathogenic |
NM_006888.6(CALM1):c.178+20G>T |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003002476] |
Chr14:90401422 [GRCh38] Chr14:90867766 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr) |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003025983] |
Chr14:90404379 [GRCh38] Chr14:90870723 [GRCh37] Chr14:14q32.11 |
pathogenic |
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 |
copy number gain |
not provided [RCV003485051] |
Chr14:88580184..107285437 [GRCh37] Chr14:14q31.3-32.33 |
pathogenic |
NM_006888.6(CALM1):c.28A>G (p.Ile10Val) |
single nucleotide variant |
not provided [RCV004778440] |
Chr14:90400089 [GRCh38] Chr14:90866433 [GRCh37] Chr14:14q32.11 |
uncertain significance |
NM_006888.6(CALM1):c.178+16C>A |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003783064] |
Chr14:90401418 [GRCh38] Chr14:90867762 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.179-17T>G |
single nucleotide variant |
Catecholaminergic polymorphic ventricular tachycardia 4 [RCV003785619] |
Chr14:90403845 [GRCh38] Chr14:90870189 [GRCh37] Chr14:14q32.11 |
likely benign |
NM_006888.6(CALM1):c.6T>C (p.Ala2=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004994941] |
Chr14:90400067 [GRCh38] Chr14:90866411 [GRCh37] Chr14:14q32.11 |
likely benign |
GRCh37/hg19 14q31.1-32.2(chr14:79886061-96870809)x1 |
copy number loss |
not provided [RCV004819380] |
Chr14:79886061..96870809 [GRCh37] Chr14:14q31.1-32.2 |
pathogenic |