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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITPR1
(N47S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ITPR1
(A86T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 15/16
+2 more
GConflicting classifications of pathogenicity
ITPR1
(T276P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
(D319E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
(A324T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
(P390S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
ITPR1
(V715I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
(R769H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
(G903D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ITPR1
(D1015H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
ITPR1
(I1262N +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ITPR1
(Q1293P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
(V1394L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
(C1521R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
(Q1647E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ITPR1
(N2186S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
(N2217H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1
(L2272F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1, LOC126806590
(G2491W +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITPR1, LOC126806590
(I2535T +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+1 more
GPathogenic/Likely pathogenic
ITPR1
(V2629L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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