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Links from MedGen

Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITPR1
(L590V +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+1 more
GConflicting classifications of pathogenicity
ITPR1
(R36C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ITPR1
(I1391F +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GUncertain significance
ITPR1
(R361P +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GUncertain significance
ITPR1
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 29
+2 more
GUncertain significance
ITPR1
(E497K +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GLikely pathogenic
ITPR1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ITPR1
(L1540P +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GLikely pathogenic
ITPR1
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 29
+3 more
GBenign/Likely benign
ITPR1
Single nucleotide variant
(synonymous variant +1 more)
Spinocerebellar ataxia type 15/16
+3 more
GBenign
ITPR1
(G1043S +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+1 more
GUncertain significance
ITPR1
(T252I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GConflicting classifications of pathogenicity
ITPR1, LOC126806590
(T2537P +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GLikely pathogenic
ITPR1
(N107D)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GUncertain significance
ITPR1
(H377Q +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GUncertain significance
ITPR1
(G924E +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GLikely pathogenic
ITPR1
(R241K)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GPathogenic/Likely pathogenic
ITPR1, LOC126806590
(V2526A +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GUncertain significance
ITPR1
(R1599H +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+1 more
GUncertain significance
ITPR1
(M1809I +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GLikely pathogenic
ITPR1
(R489G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
ITPR1
(V2210M +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
ITPR1
Single nucleotide variant
(synonymous variant +1 more)
Spinocerebellar ataxia type 29
+3 more
GBenign
ITPR1
(N2006S +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GUncertain significance
ITPR1
Microsatellite
(intron variant)
not provided
+1 more
GBenign
ITPR1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 15/16
+3 more
GBenign/Likely benign
ITPR1
(E248del)
Deletion
(inframe_deletion)
Spinocerebellar ataxia type 15/16
+2 more
GLikely pathogenic
ITPR1
(G921S +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+1 more
GUncertain significance
ITPR1
(T267R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+1 more
GPathogenic/Likely pathogenic
ITPR1
(V1421M +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GLikely pathogenic
ITPR1, LOC126806590
(I2535T +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+1 more
GPathogenic/Likely pathogenic
ITPR1, LOC126806590
(G2487R +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+4 more
GConflicting classifications of pathogenicity
ITPR1
(L521F +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GLikely benign
ITPR1
(E1660D +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GLikely benign
ITPR1
(H1464Y +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GLikely benign
ITPR1
(L2436P +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GPathogenic
ITPR1
(A2102S +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+2 more
GConflicting classifications of pathogenicity
ITPR1
(R553G +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GPathogenic
ITPR1
(E246K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ITPR1
(A1207T +3 more)
Single nucleotide variant
(missense variant)
Gillespie syndrome
+5 more
GUncertain significance
ITPR1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 29
+5 more
GBenign/Likely benign
ITPR1
(I1406V +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+5 more
GBenign/Likely benign
ITPR1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 29
+5 more
GBenign/Likely benign
ITPR1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 29
+6 more
GBenign/Likely benign
ITPR1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
ITPR1
(D1139G +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
ITPR1
(M1129V +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ITPR1
(A896V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ITPR1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 29
+5 more
GBenign/Likely benign
ITPR1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
ITPR1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
ITPR1
(R269W)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+5 more
GPathogenic/Likely pathogenic
ITPR1
(L1787P +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GPathogenic
ITPR1, LOC126806590
(G2547A +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GLikely pathogenic
ITPR1, LOC126806590
(G2539R +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ITPR1
(S277I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GLikely pathogenic
ITPR1
(T267M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
ITPR1, LOC126806590
Single nucleotide variant
(synonymous variant)
Gillespie syndrome
+4 more
GBenign
ITPR1, LOC126806590
Single nucleotide variant
(synonymous variant)
Gillespie syndrome
+4 more
GBenign
ITPR1
Single nucleotide variant
(synonymous variant)
Gillespie syndrome
+5 more
GBenign
ITPR1
Single nucleotide variant
(synonymous variant)
Gillespie syndrome
+4 more
GBenign
ITPR1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
ITPR1
(N602D +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GPathogenic
ITPR1
(V1553M +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
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