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Links from MedGen

Items: 1 to 100 of 208

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1C
(K263M)
Single nucleotide variant
(missense variant)
Timothy syndrome
GLikely pathogenic
CACNA1C
(I1026V +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
+1 more
GLikely pathogenic
CACNA1C, CACNA1C-AS1
(R1951* +13 more)
Single nucleotide variant
(nonsense)
Timothy syndrome
GPathogenic
CACNA1C
(V2124D +13 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+2 more
GUncertain significance
CACNA1C, CACNA1C-AS4
Single nucleotide variant
(intron variant)
Long qt syndrome 8
+2 more
GUncertain significance
CACNA1C, CACNA1C-AS1
Duplication
(non-coding transcript variant +2 more)
Timothy syndrome
GUncertain significance
CACNA1C, CACNA1C-AS1
(H1832R +13 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
GUncertain significance
CACNA1C
Single nucleotide variant
(intron variant)
Timothy syndrome
GUncertain significance
CACNA1C
(S640F)
Single nucleotide variant
(missense variant)
Timothy syndrome
GPathogenic
CACNA1C
Single nucleotide variant
(intron variant)
Brugada syndrome 3
+2 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(L1638P +10 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Timothy syndrome
GUncertain significance
CACNA1C
(L1289W +3 more)
Single nucleotide variant
(missense variant +1 more)
Timothy syndrome
GUncertain significance
CACNA1C
(V615G +1 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
GPathogenic
CACNA1C
(D199N)
Single nucleotide variant
(missense variant)
Timothy syndrome
GPathogenic
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
(W195R)
Single nucleotide variant
(missense variant)
Timothy syndrome
GUncertain significance
CACNA1C, CACNA1C-AS1
(R1850K +1 more)
Single nucleotide variant
(missense variant +1 more)
Timothy syndrome
GUncertain significance
CACNA1C
(A815fs +1 more)
Deletion
(frameshift variant)
Timothy syndrome
GLikely pathogenic
CACNA1C, CACNA1C-AS1
(M1810R)
Single nucleotide variant
(missense variant +1 more)
Timothy syndrome
GUncertain significance
CACNA1C, CACNA1C-AS1
(F1692L +10 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C
(V1164A +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GPathogenic/Likely pathogenic
CACNA1C
(P458A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
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
(A1151T +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CACNA1C
(C1018R +2 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+2 more
GConflicting classifications of pathogenicity
CACNA1C
Deletion
(intron variant)
not provided
+1 more
GBenign
CACNA1C
(V1350L +8 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
GPathogenic
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
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
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
(P46L)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
CACNA1C
Single nucleotide variant
(intron variant)
Timothy syndrome
GUncertain significance
CACNA1C
(R508Q +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(G2099C +13 more)
Single nucleotide variant
(missense variant +1 more)
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
(K1430T +8 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+1 more
GUncertain significance
CACNA1C
(W368* +1 more)
Single nucleotide variant
(nonsense)
Timothy syndrome
GLikely pathogenic
CACNA1C
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
+2 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CACNA1C
Deletion
(intron variant)
Long QT syndrome
+1 more
GBenign
CACNA1C, CACNA1C-AS1
(E1827del +13 more)
Microsatellite
(inframe_deletion)
Long QT syndrome
+1 more
GUncertain significance
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
+2 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
+2 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
+2 more
GBenign
CACNA1C, CACNA1C-AS1
(E1856A +13 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+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
(A757P +1 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+1 more
GUncertain significance
CACNA1C
(T471N +1 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
GUncertain significance
CACNA1C
(E802del +1 more)
Microsatellite
(inframe_deletion)
Brugada syndrome 3
+4 more
GUncertain significance
CACNA1C
(S22I)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(S1742L +10 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+2 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(G2001S +13 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+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
(N639K +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
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
(T1800I +10 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(G1700S +10 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+5 more
GConflicting classifications of pathogenicity
CACNA1C
(N537D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely pathogenic
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