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Links from MedGen

Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1G
(L872I)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(R1496G +5 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(M1506I +2 more)
Single nucleotide variant
(missense variant +3 more)
Spinocerebellar ataxia type 42
GLikely pathogenic
CACNA1G
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(D1845A +14 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(R456L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CACNA1G
(W2020R +23 more)
Single nucleotide variant
(missense variant +2 more)
Juvenile myoclonic epilepsy
+1 more
Gnot provided
CACNA1G
(R1887W +23 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CACNA1G
(R711W)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(R289H)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(A774T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CACNA1G
(S490A)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(S1973Y +23 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(F950L)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(I962T)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
+1 more
GUncertain significance
CACNA1G
(A1038G +1 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(R1241S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CACNA1G
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
CACNA1G
(S937L)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GLikely pathogenic
CACNA1G
Single nucleotide variant
(synonymous variant +1 more)
Spinocerebellar ataxia type 42
+2 more
GBenign
CACNA1G
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 42
+2 more
GBenign
CACNA1G
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 42
+2 more
GBenign
CACNA1G
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 42
+2 more
GBenign
CACNA1G
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 42
+2 more
GBenign
CACNA1G
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 42
+2 more
GBenign
CACNA1G
(H501Y)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
+1 more
GUncertain significance
CACNA1G
(A178T)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(L2234P +26 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(E971*)
Single nucleotide variant
(nonsense +2 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(I803L)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
+2 more
GConflicting classifications of pathogenicity
CACNA1G
(P2109L +26 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(G1699R +14 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(R1343Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(S552P)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
+1 more
GConflicting classifications of pathogenicity
CACNA1G
(D1256N +1 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GLikely pathogenic
CACNA1G
(T1916N +3 more)
Indel
(missense variant +1 more)
Spinocerebellar ataxia type 42
GLikely pathogenic
CACNA1G
(I161F)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GLikely pathogenic
CACNA1G
(S630C)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
+1 more
GUncertain significance
CACNA1G
(L211P)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GLikely pathogenic
CACNA1G
(V491F)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
Gnot provided
CACNA1G
(R530H)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
+2 more
GBenign/Likely benign
CACNA1G
(P1093L +1 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
+2 more
GUncertain significance
CACNA1G
(C644Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CACNA1G
(T1056M +1 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GLikely benign
CACNA1G
(V182L)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(R115Q)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
(S1658P +12 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
GUncertain significance
CACNA1G
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
CACNA1G
(R1715H +12 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 42
+2 more
GPathogenic
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