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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAK
Insertion
Retinitis pigmentosa 62
GPathogenic
MAK
(Y4fs)
Duplication
(frameshift variant +2 more)
Retinitis pigmentosa 62
GPathogenic
MAK
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
MAK
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
MAK
(Y545H +3 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 62
+1 more
GUncertain significance
MAK
(H123fs +1 more)
Duplication
(frameshift variant +1 more)
Retinitis pigmentosa 62
GLikely pathogenic
MAK
Microsatellite
(splice donor variant)
Retinitis pigmentosa 62
GLikely pathogenic
MAK
(H119R +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 62
+2 more
GUncertain significance
MAK
(G587R +3 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 62
+1 more
GConflicting classifications of pathogenicity
MAK
(L182S +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 62
+2 more
GUncertain significance
MAK
(E420fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
MAK
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 62
+2 more
GConflicting classifications of pathogenicity
MAK
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 62
+2 more
GBenign
MAK
(I572T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
MAK
(R166H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
MAK
(G13S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MAK
(N130H +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 62
GPathogenic
MAK
(Q240* +1 more)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 62
GPathogenic
MAK
Insertion
Retinitis pigmentosa 62
GPathogenic
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