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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP5K
(G11D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital muscular dystrophy with cataracts and intellectual disability
GUncertain significance
INPP5K
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GUncertain significance
INPP5K
(R270H +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GUncertain significance
INPP5K
(S340T +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GUncertain significance
INPP5K
(R175fs +1 more)
Deletion
(frameshift variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GPathogenic
INPP5K
(L55F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital muscular dystrophy with cataracts and intellectual disability
GPathogenic
INPP5K
(S233G +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GLikely pathogenic
INPP5K
(W142* +1 more)
Single nucleotide variant
(nonsense)
Congenital muscular dystrophy with cataracts and intellectual disability
GLikely pathogenic
INPP5K
(G140D +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GUncertain significance
INPP5K
(P189S +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GUncertain significance
INPP5K
Single nucleotide variant
(5 prime UTR variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GBenign
INPP5K
Deletion
(intron variant)
Congenital muscular dystrophy with cataracts and intellectual disability
+1 more
GBenign
INPP5K
(F101S +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GUncertain significance
INPP5K
(N40S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital muscular dystrophy with cataracts and intellectual disability
+2 more
GConflicting classifications of pathogenicity
INPP5K
(G140S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
INPP5K
(N417fs +1 more)
Deletion
(frameshift variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GPathogenic
INPP5K
(D269N +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GPathogenic
INPP5K
(V23M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital muscular dystrophy with cataracts and intellectual disability
GPathogenic
INPP5K
(M93V +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GPathogenic
INPP5K
(Y300C +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy with cataracts and intellectual disability
GPathogenic
INPP5K
(I50T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
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