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Links from MedGen

Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAMTA1
(S1361N +7 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(D339N +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(R839W +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
OBI1-AS1, POU4F1
(G149S)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(A926V +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(T18R +4 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1, LOC126805603
(S1258G +3 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(N1253T +7 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(L80F)
Single nucleotide variant
(missense variant +2 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GBenign
CAMTA1
(P1153S +4 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(Q580* +2 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
CAMTA1
(M477fs +2 more)
Deletion
(frameshift variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
(G832A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMTA1
(E1354Q +7 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(Y715* +2 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
Single nucleotide variant
(synonymous variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(V1336F +7 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(E312K +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(A534T +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(G186W +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(P707L +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(R1413C +7 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(V613M +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(N231S +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(Q866R +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(V430M +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
Single nucleotide variant
(splice donor variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
(R1398L +7 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(N203K +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(E788* +2 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
(D456N +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
+1 more
GUncertain significance
CAMTA1
(A924T +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely benign
CAMTA1
(A475G +2 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(S776fs +1 more)
Deletion
(frameshift variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
+1 more
GPathogenic
CAMTA1
(S570fs +1 more)
Duplication
(frameshift variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
CAMTA1
(A51T +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(K1453fs +8 more)
Deletion
(frameshift variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
CAMTA1
Single nucleotide variant
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(S638Y +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(R1018* +3 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
CAMTA1
(E510K +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
+1 more
GUncertain significance
CAMTA1
Single nucleotide variant
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(S1330N +6 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
(A240V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CAMTA1
(E135G +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
CAMTA1
(L31fs +2 more)
Deletion
(frameshift variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
CAMTA1
(R1446* +8 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
(Y122fs +1 more)
Deletion
(frameshift variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(T1265I +6 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(W865* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
Single nucleotide variant
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1, LOC126805603
(E1255K +3 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(A1350V +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CAMTA1
(Q1451* +8 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
Single nucleotide variant
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GBenign
CAMTA1
Single nucleotide variant
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GBenign
CAMTA1
Single nucleotide variant
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GBenign
CAMTA1
Single nucleotide variant
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GBenign
CAMTA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CAMTA1
Single nucleotide variant
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GBenign
CAMTA1
(E284K +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(R1659S +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CAMTA1
(R490Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CAMTA1
(V240M +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CAMTA1
(Y1558* +6 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1, LOC126805603
(R322W +3 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(V907A +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(C794R +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(S366N +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(C790* +1 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
(D456fs +1 more)
Duplication
(frameshift variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
CAMTA1
Deletion
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
CAMTA1
(R1398* +6 more)
Single nucleotide variant
(nonsense)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(W1167fs +3 more)
Deletion
(frameshift variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
CAMTA1, LOC126805603
(P374fs +6 more)
Indel
(frameshift variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
CAMTA1
(K111N +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CAMTA1
Deletion
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
Single nucleotide variant
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
+1 more
GLikely benign
CAMTA1
(R284H +1 more)
Single nucleotide variant
(missense variant)
CAMTA1-related condition
+1 more
GUncertain significance
CAMTA1
(G713R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CAMTA1
(S825G +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(E509K +6 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely benign
CAMTA1
(W880* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CAMTA1, LOC126805603
(T1193I +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
CAMTA1
(K299R +1 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
+1 more
GBenign/Likely benign
CAMTA1
Single nucleotide variant
(5 prime UTR variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
+1 more
GBenign/Likely benign
CAMTA1
(N1188T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
CAMTA1
(A1089V +3 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(E992K +3 more)
Single nucleotide variant
(missense variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
LOC126806082, SMYD3
Deletion
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
NID1
Deletion
(splice acceptor variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
SLC9A1
Deletion
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
Deletion
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GBenign
AADACL3, AADACL4
+11 more
Deletion
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
Deletion
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GPathogenic
PRDM16
Deletion
(intron variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(N77D +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
CAMTA1
(S267fs +1 more)
Deletion
(frameshift variant)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GLikely pathogenic
CAMTA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CAMTA1
(R1594* +8 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
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