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Links from MedGen

Items: 87

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CALM1, LOC126862021
(G97A +2 more)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GUncertain significance
CALM1
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1, LOC126862021
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1, LOC130056272
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Duplication
(intron variant)
Long QT syndrome 14
+1 more
GBenign
CALM1
Single nucleotide variant
(synonymous variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1, LOC126862021
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Long QT syndrome 14
+2 more
GLikely benign
CALM1
Duplication
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GUncertain significance
CALM1
Single nucleotide variant
(synonymous variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+2 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1, LOC126862021
(D135E +2 more)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GUncertain significance
CALM1
(D97Y +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 14
+1 more
GPathogenic
CALM1
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
(G25S +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GUncertain significance
CALM1
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1, LOC126862021
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1, LOC130056272
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Catecholaminergic polymorphic ventricular tachycardia 4
+2 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+2 more
GUncertain significance
CALM1, LOC126862021
(E120K +2 more)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GUncertain significance
CALM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1, LOC126862021
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1, LOC130056272
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1, LOC126862021
Single nucleotide variant
(synonymous variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1, LOC126862021
Deletion
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1, LOC126862021
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1, LOC126862021
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely benign
CALM1
(M110L +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 14
+1 more
GUncertain significance
CALM1, LOC126862021
(D132G +2 more)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GPathogenic
CALM1, LOC112272566
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+2 more
GBenign
CALM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1, LOC126862021
Single nucleotide variant
(synonymous variant)
Long QT syndrome 14
+2 more
GLikely benign
CALM1, LOC126862021
Duplication
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+1 more
GLikely benign
CALM1
Duplication
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GUncertain significance
CALM1, LOC126862021
(F142L +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 14
+1 more
GPathogenic
CALM1, LOC126862021
(D133V +2 more)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GPathogenic
CALM1
(D94H +2 more)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GUncertain significance
CALM1
(V37L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Long QT syndrome 14
+1 more
GUncertain significance
CALM1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GBenign
CALM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GBenign
CALM1
(I65V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 14
+1 more
GUncertain significance
CALM1, LOC126862021
(D96N +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 14
+1 more
GPathogenic
CALM1, LOC126862021
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+2 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126862021, CALM1
(G133E +2 more)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GLikely pathogenic
LOC126862021, CALM1
Duplication
(intron variant)
not specified
+2 more
GLikely benign
CALM1
Deletion
(intron variant)
Long QT syndrome 14
+2 more
GLikely benign
CALM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GUncertain significance
CALM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Long QT syndrome 14
+2 more
GLikely benign
CALM1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
CALM1
(I53V +2 more)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 4
+1 more
GUncertain significance
LOC126862021, CALM1
(F142L +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 14
+2 more
GPathogenic
CALM1, LOC126862021
Deletion
(intron variant)
not specified
+2 more
GLikely benign
CALM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiovascular phenotype
+3 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
CALM1
Single nucleotide variant
(synonymous variant)
CALM1-related disorder
+4 more
GLikely benign
CALM1
Single nucleotide variant
(intron variant)
Long QT syndrome 14
+2 more
GBenign/Likely benign
CALM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
CALM1
(N98S +2 more)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GPathogenic/Likely pathogenic
CALM1
(N54I +2 more)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 4
GLikely pathogenic
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