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Links from MedGen

Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1C
(E423K +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
GUncertain significance
CACNA1C
(M724I +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+1 more
GUncertain significance
CACNA1C, CACNA1C-AS1
+2 more
Duplication
Brugada syndrome 3
+1 more
GUncertain significance
CACNA1C
(K800N +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
GUncertain significance
CACNA1C
Single nucleotide variant
(intron variant)
Brugada syndrome 3
+2 more
GUncertain significance
CACNA1C
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+5 more
GUncertain significance
CACNA1C
(I179T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(intron variant +1 more)
Timothy syndrome
+3 more
GLikely benign
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
Brugada syndrome 3
+3 more
GLikely benign
CACNA1C, CACNA1C-AS1
(A1985V +13 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+3 more
GUncertain significance
CACNA1C
(R1603Q +10 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+4 more
GUncertain significance
CACNA1C
(L1509V +8 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+3 more
GUncertain significance
CACNA1C
(N5H)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(P1959R +13 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+3 more
GConflicting classifications of pathogenicity
CACNA1C
(T807M +1 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+4 more
GUncertain significance
CACNA1C
(M1509V +8 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
CACNA1C
(P458A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CACNA1C
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CACNA1C
(A1190T +2 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+3 more
GUncertain significance
CACNA1C
(A876V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Brugada syndrome 3
+4 more
GLikely benign
CACNA1C
Single nucleotide variant
(synonymous variant)
Brugada syndrome 3
+4 more
GLikely benign
CACNA1C
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(S2023R +13 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+3 more
GUncertain significance
CACNA1C
(D232H)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+1 more
GUncertain significance
CACNA1C
(S311F +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+3 more
GUncertain significance
CACNA1C
(V1030M +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+3 more
GUncertain significance
CACNA1C
(A28T)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(G1883S +13 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+3 more
GUncertain significance
CACNA1C
(V593M +1 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+4 more
GUncertain significance
CACNA1C-AS1, CACNA1C
(G2020S +13 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+4 more
GUncertain significance
CACNA1C
(F1466S +8 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+2 more
GUncertain significance
CACNA1C
(V241A)
Single nucleotide variant
(missense variant)
Timothy syndrome
+1 more
GLikely pathogenic
CACNA1C, CACNA1C-AS1
(P1962L +13 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
CACNA1C
(S67N)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(Q1956R +13 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+3 more
GUncertain significance
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(intron variant)
Long qt syndrome 8
+3 more
GUncertain significance
CACNA1C
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
CACNA1C, CACNA1C-AS1
(E1856A +13 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+4 more
GUncertain significance
CACNA1C
(E477K +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
CACNA1C
(V162M)
Single nucleotide variant
(missense variant)
Timothy syndrome
+4 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(I1911S +13 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+3 more
GUncertain significance
CACNA1C
(E802del +1 more)
Microsatellite
(inframe_deletion)
Brugada syndrome 3
+4 more
GUncertain significance
CACNA1C
(S22I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(G2001S +13 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+3 more
GConflicting classifications of pathogenicity
CACNA1C
(K1054R +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
CACNA1C
(T942A +1 more)
Single nucleotide variant
(missense variant +1 more)
Timothy syndrome
+4 more
GConflicting classifications of pathogenicity
CACNA1C
(N829S +1 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+4 more
GConflicting classifications of pathogenicity
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
+4 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(A1717V +10 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+5 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(R1943Q +13 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(E1792G +10 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(G1700S +10 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+5 more
GConflicting classifications of pathogenicity
CACNA1C
(V585M +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CACNA1C
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
CACNA1C
(N300D)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(E2112Q +13 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+3 more
GUncertain significance
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GLikely benign
CACNA1C, CACNA1C-AS1
(G2052V +13 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(R1854Q +13 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
CACNA1C
(S1114N +2 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+3 more
GUncertain significance
CACNA1C
(P784S +1 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+5 more
GConflicting classifications of pathogenicity
CACNA1C
(T320M +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
Timothy syndrome
+6 more
GLikely benign
CACNA1C
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+5 more
GLikely benign
CACNA1C-AS1, CACNA1C
(V1804A +10 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(A2022P +13 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(E1874del +13 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+5 more
GUncertain significance
CACNA1C
(V1111I +2 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+7 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(R2047W +13 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(R1906Q +13 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
CACNA1C
(A519T +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+6 more
GUncertain significance
CACNA1C
(T171M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(C1855Y)
Single nucleotide variant
(intron variant +1 more)
Timothy syndrome
+4 more
GBenign/Likely benign
CACNA1C-AS1, CACNA1C
Single nucleotide variant
(non-coding transcript variant +1 more)
Long QT syndrome
+6 more
GBenign/Likely benign
CACNA1C
Single nucleotide variant
(synonymous variant)
Timothy syndrome
+7 more
GBenign/Likely benign
CACNA1C
(G813R +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CACNA1C
(R507H +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+1 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(A1939P +13 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(T1999I +13 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+4 more
GConflicting classifications of pathogenicity
CACNA1C
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
CACNA1C
(V1227I +2 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+5 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(K2054R +13 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
CACNA1C
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
CACNA1C
(D690N +1 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+4 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(G1911R +13 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+7 more
GConflicting classifications of pathogenicity
CACNA1C
(T6fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
CACNA1C
(M1T)
Single nucleotide variant
(missense variant +1 more)
Long qt syndrome 8
+5 more
GConflicting classifications of pathogenicity
CACNA1C-AS1, CACNA1C
(E2100fs +13 more)
Duplication
(non-coding transcript variant +1 more)
Long qt syndrome 8
+6 more
GUncertain significance
CACNA1C-AS1, CACNA1C
(E1678del +10 more)
Microsatellite
(non-coding transcript variant +1 more)
Long qt syndrome 8
+5 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(R1780C +10 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+6 more
GConflicting classifications of pathogenicity
CACNA1C-AS1, CACNA1C
(A1733V +10 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+5 more
GConflicting classifications of pathogenicity
CACNA1C
(T79M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
CACNA1C
(N33S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(G1662R +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
CACNA1C
(K1591N +10 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+5 more
GUncertain significance
CACNA1C
(P1323L)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 3
+3 more
GUncertain significance
CACNA1C
(T568M +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
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