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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPSA
(S170A +1 more)
Single nucleotide variant
(missense variant)
Familial isolated congenital asplenia
GUncertain significance
RPSA
(N169I +1 more)
Single nucleotide variant
(missense variant)
Familial isolated congenital asplenia
GUncertain significance
RPSA
Single nucleotide variant
(intron variant)
Familial isolated congenital asplenia
GBenign
RPSA
Single nucleotide variant
(intron variant)
Familial isolated congenital asplenia
+1 more
GConflicting classifications of pathogenicity
RPSA
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
RPSA
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
RPSA
(L58F)
Single nucleotide variant
(missense variant)
Familial isolated congenital asplenia
GPathogenic
RPSA
(T54N)
Single nucleotide variant
(missense variant)
Familial isolated congenital asplenia
GPathogenic
RPSA
(R186C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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
(P199fs +1 more)
Duplication
(frameshift variant)
Familial isolated congenital asplenia
GPathogenic
RPSA
(Q9*)
Single nucleotide variant
(nonsense)
Familial isolated congenital asplenia
GPathogenic
NKX2-5
(P236H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
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