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Links from MedGen

Items: 1 to 100 of 2173

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(L618F +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
GPathogenic
CACNA1A
(A868fs +2 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 42
GLikely pathogenic
CACNA1A
(H2501Q +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 42
GUncertain significance
CACNA1A
(M2038T +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
GUncertain significance
CACNA1A
(R1006L +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+3 more
GUncertain significance
CACNA1A
(V1491I +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
GUncertain significance
CACNA1A, LOC126862864
(C1405* +2 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 42
GLikely pathogenic
CACNA1A
Copy number loss
Developmental and epileptic encephalopathy, 42
+3 more
Gnot provided
CACNA1A
(E1979A +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+3 more
Gnot provided
CACNA1A
(L1421fs +2 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 42
GLikely pathogenic
CACNA1A
(Y62C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
GLikely pathogenic
CACNA1A
(R782fs +2 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 42
GLikely pathogenic
CACNA1A
(R1029G +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CACNA1A
(A2091T +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+3 more
GUncertain significance
CACNA1A
(R1845H +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 42
GUncertain significance
CACNA1A
(D1643Y +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
GLikely pathogenic
CACNA1A
Duplication
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A
Duplication
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A, IER2
+5 more
Duplication
Marshall-Smith syndrome
+3 more
GUncertain significance
CACNA1A
Deletion
Episodic ataxia type 2
+1 more
GPathogenic
CACNA1A
Deletion
Episodic ataxia type 2
+1 more
GPathogenic
CACNA1A
Deletion
Episodic ataxia type 2
+1 more
GPathogenic
CACNA1A
Deletion
Episodic ataxia type 2
+1 more
GPathogenic
CACNA1A
Deletion
Episodic ataxia type 2
+1 more
GPathogenic
CACNA1A
Deletion
Episodic ataxia type 2
+1 more
GUncertain significance
HOOK2, TRMT1
+81 more
Duplication
Deficiency of alpha-mannosidase
+4 more
GUncertain significance
CACNA1A
(H2218Y +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
(D651N +1 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A
(H865L +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A, LOC126862865
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CACNA1A
(I1685fs +3 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 42
GLikely pathogenic
CACNA1A
Duplication
(inframe_insertion)
Developmental and epileptic encephalopathy, 42
+2 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(K1139M +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(R387C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(N1938D +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A, LOC126862864
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(D2225N +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(I113F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Microsatellite
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(K458I +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A, LOC130063717
Duplication
(inframe_insertion)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(R2155Q +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(P1770L +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(Q776R +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(I1901M +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
(I1584V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+2 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
(R37Q)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
(G1285S +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
(F363S)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GPathogenic
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
(L819S +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(splice donor variant)
Episodic ataxia type 2
+1 more
GLikely pathogenic
CACNA1A
(M220V)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A
(P1177H +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GLikely benign
CACNA1A
(R380K)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A, LOC126862865
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(K1957R +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A, LOC126862864
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(A20V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
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