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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCARE
Duplication
(inframe_insertion)
Retinitis pigmentosa 54
GLikely pathogenic
PCARE
Deletion
(nonsense)
Retinitis pigmentosa 54
GLikely pathogenic
PCARE
(T729A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 54
+1 more
GUncertain significance
PCARE
(P980S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 54
GUncertain significance
PCARE
(P807fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 54
GLikely pathogenic
PCARE
(P809fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 54
GLikely pathogenic
PCARE
(V555fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 54
GLikely pathogenic
PCARE
(K632*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 54
GLikely pathogenic
PCARE
(Q538*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 54
GLikely pathogenic
PCARE
(L307*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
PCARE
(K902*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PCARE
(V990fs)
Deletion
(frameshift variant)
PCARE-related condition
+1 more
GPathogenic
PCARE
(Q410fs)
Deletion
(frameshift variant)
Retinitis pigmentosa
+1 more
GPathogenic
PCARE
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 54
GLikely pathogenic
PCARE
(P514fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PCARE
(T662fs)
Duplication
(frameshift variant)
Retinal dystrophy
+1 more
GLikely pathogenic
PCARE
(R320fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PCARE
(R1010Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 54
+1 more
GUncertain significance
PCARE
(C3Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCARE
(R613*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PCARE
(R1202*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+1 more
GPathogenic
PCARE
(Q410*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 54
GLikely pathogenic
PCARE
(M794fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 54
+2 more
GPathogenic/Likely pathogenic
PCARE
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 54
+2 more
GBenign/Likely benign
PCARE
(A252D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 54
+2 more
GBenign
PCARE
(W397*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PCARE
(S516fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 54
+1 more
GPathogenic
PCARE
(V615D)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
PCARE
(W1001*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+5 more
GPathogenic/Likely pathogenic
PCARE
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+3 more
GBenign
PCARE
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+3 more
GBenign
PCARE
(E227K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
PCARE
(P433S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 54
+4 more
GConflicting classifications of pathogenicity
PCARE
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+3 more
GBenign
PCARE
(R528C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
PCARE
(T580M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 54
+3 more
GBenign
PCARE
(R656S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GUncertain significance
PCARE
Microsatellite
(splice acceptor variant)
not specified
+4 more
GBenign/Likely benign
PCARE
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa 54
+1 more
GBenign
PCARE
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
PCARE
(L792V)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
PCARE
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PCARE
(G1247S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 54
+4 more
GBenign/Likely benign
PCARE
(C688Y)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PCARE
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 54
+4 more
GBenign
PCARE
(Q1020R)
Indel
(missense variant)
not provided
+2 more
GBenign/Likely benign
PCARE
(A959T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
PCARE
(P867L)
Single nucleotide variant
(missense variant)
PCARE-related condition
+4 more
GConflicting classifications of pathogenicity
PCARE
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 54
+3 more
GBenign/Likely benign
PCARE
(P1089del)
Deletion
(inframe_deletion)
Retinitis pigmentosa 54
+2 more
GBenign
PCARE
(K919fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PCARE
(Q186*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 54
+1 more
GPathogenic
PCARE
(N316fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PCARE
(I201F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCARE
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 54
GPathogenic
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