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Items: 1 to 100 of 229

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063041, LOC130063042
+687 more
Copy number gain
See cases
GPathogenic
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
ABHD17A, ADAT3
+387 more
Copy number loss
See cases
GPathogenic
ABHD17A, ADAT3
+362 more
Copy number gain
See cases
GPathogenic
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
APBA3, ATCAY
+121 more
Copy number loss
See cases
GPathogenic
ANKRD24, APBA3
+223 more
Copy number gain
See cases
GLikely pathogenic
LOC121852974, LOC125371451
+193 more
Copy number loss
See cases
GPathogenic
APBA3, ATCAY
+71 more
Copy number loss
See cases
GPathogenic
PIP5K1C, PLIN4
+142 more
Copy number loss
See cases
GPathogenic
ANKRD24, ARRDC5
+150 more
Copy number loss
See cases
GLikely pathogenic
ATCAY
Deletion
Cayman type cerebellar ataxia
GLikely benign
ATCAY
Single nucleotide variant
Cayman type cerebellar ataxia
GLikely benign
ATCAY
Single nucleotide variant
Cayman type cerebellar ataxia
+1 more
GBenign
ATCAY
Single nucleotide variant
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(5 prime UTR variant)
Cayman type cerebellar ataxia
GBenign
ATCAY
Single nucleotide variant
(5 prime UTR variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(5 prime UTR variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(5 prime UTR variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(intron variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(intron variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
(T4I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATCAY
(Q20L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(T32M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATCAY
(G33R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(G33E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATCAY
(P40L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(intron variant)
Cayman type cerebellar ataxia
+1 more
GLikely benign
ATCAY
(L51P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
Cayman type cerebellar ataxia
+1 more
GConflicting classifications of pathogenicity
ATCAY
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATCAY
(G77A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATCAY
(V95M)
Single nucleotide variant
(missense variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
(E99K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(intron variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
ATCAY-related disorder
GLikely benign
ATCAY
(D121N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(V124M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ATCAY
(A125V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(A127T)
Single nucleotide variant
(missense variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
(G132R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATCAY
(D133N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
Cayman type cerebellar ataxia
+1 more
GConflicting classifications of pathogenicity
ATCAY
Single nucleotide variant
(synonymous variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ATCAY
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATCAY
(E144Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATCAY
(A148T)
Single nucleotide variant
(missense variant)
Cayman type cerebellar ataxia
+1 more
GUncertain significance
ATCAY
(A149T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(G151R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(R155Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(G160R)
Single nucleotide variant
(missense variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
(I166V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(V178I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Duplication
(intron variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Duplication
(intron variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(intron variant)
Cayman type cerebellar ataxia
+1 more
GBenign
ATCAY
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ATCAY
(Y184*)
Single nucleotide variant
(nonsense)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
(E186K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(G187A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(A190T)
Single nucleotide variant
(missense variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
(I191V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(V193I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(A195T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(D201fs)
Deletion
(frameshift variant)
Cayman type cerebellar ataxia
GPathogenic
ATCAY
(P205S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ATCAY
(D206N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(intron variant)
Cayman type cerebellar ataxia
+1 more
GBenign/Likely benign
ATCAY
Single nucleotide variant
(intron variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(intron variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(intron variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
Single nucleotide variant
(intron variant)
not provided
GBenign
ATCAY
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATCAY
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATCAY
Single nucleotide variant
(synonymous variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
(M231T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(L235M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ATCAY
(G237S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
Cayman type cerebellar ataxia
+1 more
GConflicting classifications of pathogenicity
ATCAY
(R241W)
Single nucleotide variant
(missense variant)
Cayman type cerebellar ataxia
GUncertain significance
ATCAY
(G248S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATCAY
(C253S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
(R259Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ATCAY
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATCAY
(F287V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATCAY
Single nucleotide variant
(intron variant)
Cayman type cerebellar ataxia
+1 more
GBenign
ATCAY
Single nucleotide variant
(intron variant)
Cayman type cerebellar ataxia
+1 more
GBenign/Likely benign
ATCAY
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATCAY
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATCAY
(H300Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance

Items: 1 to 100 of 229

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