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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRR12
(L802H)
Single nucleotide variant
(missense variant)
Neuroocular syndrome
GUncertain significance
PRR12
(P517fs)
Deletion
(frameshift variant)
Neuroocular syndrome
GPathogenic
PRR12
(H308fs)
Deletion
(frameshift variant)
Neuroocular syndrome
GLikely pathogenic
PRR12
(V1317fs)
Microsatellite
(frameshift variant)
Neuroocular syndrome
GLikely pathogenic
PRR12
(Q449*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
GLikely pathogenic
PRR12
(P193A)
Single nucleotide variant
(missense variant)
Neuroocular syndrome
GUncertain significance
PRR12
(S1135*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
GLikely pathogenic
PRR12
(E740*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
GLikely pathogenic
PRR12
(I383fs)
Deletion
(frameshift variant)
Neuroocular syndrome
GLikely pathogenic
PRR12
(L219fs)
Microsatellite
(frameshift variant)
Neuroocular syndrome
GLikely pathogenic
PRR12
(R1320fs)
Deletion
(frameshift variant)
Neuroocular syndrome
GLikely pathogenic
PRR12
(V899fs)
Duplication
(frameshift variant)
Neuroocular syndrome
GPathogenic
PRR12
(R1209*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
GLikely pathogenic
PRR12
(R1320*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PRR12
(Y507*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
GPathogenic
PRR12
(S411*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
GLikely pathogenic
PRR12
(S945fs)
Microsatellite
(frameshift variant)
Neuroocular syndrome
GLikely pathogenic
PRR12
(Y749*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
GLikely pathogenic
PRR12
(T1596M)
Single nucleotide variant
(missense variant)
Neuroocular syndrome
GUncertain significance
PRR12
(L1970P)
Single nucleotide variant
(missense variant)
Neuroocular syndrome
+1 more
GConflicting classifications of pathogenicity
PRR12
(R1169W)
Single nucleotide variant
(missense variant)
Neuroocular syndrome
GLikely pathogenic
PRR12
Single nucleotide variant
(splice acceptor variant)
Neuroocular syndrome
+1 more
GPathogenic/Likely pathogenic
PRR12
(Q264*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
+1 more
GPathogenic
PRR12
(Q919*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
+1 more
GPathogenic
PRR12
(K1092fs)
Deletion
(frameshift variant)
Neuroocular syndrome
+1 more
GPathogenic
PRR12
(P304fs)
Duplication
(frameshift variant)
Neuroocular syndrome
+5 more
GPathogenic
PRR12
(L1501fs)
Deletion
(frameshift variant)
Abnormality of vision
+4 more
GPathogenic
PRR12
(E640*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
+5 more
GPathogenic
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