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Links from MedGen

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1C
(L914R +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GLikely pathogenic
CACNA1A, LOC126862864
(S1372L +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GLikely pathogenic
CACNA1C
(P244R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GLikely pathogenic
CACNA1C
(E1077V +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GUncertain significance
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
(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
(M359V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GUncertain significance
CACNA1C
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GLikely pathogenic
CACNA1C
(E771D +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GUncertain significance
CACNA1C
(A272V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GLikely pathogenic
CACNA1C
(V619G +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GUncertain significance
CACNA1C
(E408D +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GLikely pathogenic
CACNA1C
(T1165A +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GUncertain significance
CACNA1C
(I993T +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GUncertain significance
CACNA1C
(V257A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GLikely pathogenic
CACNA1C
(L1395V +7 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GPathogenic
CACNA1C
(L654F)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
GPathogenic
CACNA1C
(R1603Q +10 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+4 more
GUncertain significance
CACNA1C
(P46L)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 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
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
CACNA1C
(V1363M +8 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CACNA1C
(L614P +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
+2 more
GConflicting classifications of pathogenicity
CACNA1C
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
CACNA1C
(I304T)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+8 more
GConflicting classifications of pathogenicity
CACNA1C
(I1295V +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(A1717G +10 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
+8 more
GConflicting classifications of pathogenicity
CACNA1C
(G406R +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
+7 more
GPathogenic
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