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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1, A2ML1-AS1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
CACNA1C
(A39V)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
GPathogenic
CACNA1C
(G406R)
Single nucleotide variant
(missense variant +1 more)
Long qt syndrome 8
+4 more
GPathogenic/Likely pathogenic
CACNA1C
(G402S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
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
CACNA1C
(G490R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
CACNA1C
(E1115K +2 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+3 more
GUncertain significance
CACNA1C
(I1166T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic
CACNA1C
(A1473G +8 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
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