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Items: 1 to 100 of 111

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129936377, LOC129936378
+1111 more
Copy number gain
See cases
GPathogenic
LOC129936460, LOC129936461
+176 more
Copy number gain
See cases
GPathogenic
RPSA
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
(Q9*)
Single nucleotide variant
(nonsense)
Familial isolated congenital asplenia
GPathogenic
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
(T28I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(M34V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(E35K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(Q36H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(intron variant)
Familial isolated congenital asplenia
GBenign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
(T54S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(T54N)
Single nucleotide variant
(missense variant)
Familial isolated congenital asplenia
GPathogenic
RPSA
(L58F)
Single nucleotide variant
(missense variant)
Familial isolated congenital asplenia
GPathogenic
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
(A62G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
(A64T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(I65V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(V66F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(A72V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RPSA
(I77T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
(T82S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(T88fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely benign
RPSA
(V89fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely benign
RPSA
Single nucleotide variant
(splice donor variant +1 more)
not provided
GLikely benign
RPSA
Single nucleotide variant
(splice donor variant +1 more)
not provided
GBenign
RPSA
Deletion
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
(I104V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(synonymous variant)
RPSA-related condition
+1 more
GBenign/Likely benign
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
(R125G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
(T135M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(S143F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(I150V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
(R155C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(R155H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(Y156S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(A160V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(N169I +1 more)
Single nucleotide variant
(missense variant)
Familial isolated congenital asplenia
GUncertain significance
RPSA
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
Familial isolated congenital asplenia
+1 more
GConflicting classifications of pathogenicity
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Deletion
(intron variant)
not provided
GLikely benign
RPSA
Deletion
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
(S170A +1 more)
Single nucleotide variant
(missense variant)
Familial isolated congenital asplenia
GUncertain significance
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
RPSA
(M179I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(M177I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(R180W +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RPSA
(R180G +1 more)
Single nucleotide variant
(missense variant)
Familial isolated congenital asplenia
GPathogenic
RPSA
(R186C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RPSA
(S195C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(R191C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
(P199fs +1 more)
Duplication
(frameshift variant)
Familial isolated congenital asplenia
GPathogenic
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Duplication
(intron variant)
not provided
GBenign
RPSA
Deletion
(intron variant)
not provided
GBenign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Duplication
(intron variant)
not provided
GLikely benign
RPSA
Duplication
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RPSA
(P236S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
(V257G +1 more)
Single nucleotide variant
(missense variant)
RPSA-related condition
GUncertain significance
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPSA
(P263S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPSA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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