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Items: 1 to 100 of 183

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPP2
Single nucleotide variant
(5 prime UTR variant)
SPP2-related disorder
GLikely benign
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(T9R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SPP2
(T9M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(M10K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(M10T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(F18fs)
Duplication
(frameshift variant)
Retinal dystrophy
GLikely pathogenic
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(M17T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(L20H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Deletion
(inframe_deletion)
not provided
GUncertain significance
SPP2
(M22V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
Insertion
(inframe_insertion)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(W25C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Indel
(missense variant)
not provided
GUncertain significance
SPP2
(C27Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
SPP2
(V32A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
GLikely benign
SPP2
(D36N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(D36E)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GBenign
SPP2
(S38A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(S38F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SPP2
(L40F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(D42N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(D42E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SPP2
(N52Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(N52I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(S53C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(Q54*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(P58L)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
SPP2
(L60V)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GBenign
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(R62G)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
SPP2
(R62W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(R62Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(A63T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(R65G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
(V71A)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
SPP2
(N77Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(N78D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(R88W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(R88Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(C92R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SPP2
(C92Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(R93G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(R93K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(R93S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(D99Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(D99G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SPP2
(A101T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SPP2
(Y110D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SPP2
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPP2
(S112Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(S112F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(T113I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(A114P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
(V115L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(V120M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPP2
(A124V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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