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Links from MedGen

Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MERTK
(G743S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
GLikely pathogenic
MERTK
(M730R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
GUncertain significance
MERTK
(A725P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
GUncertain significance
LOC112806037, LOC122817727
+1 more
Copy number loss
Retinitis pigmentosa 38
GPathogenic
MERTK
Copy number loss
Retinitis pigmentosa 38
GPathogenic
LOC129934574, LOC112806037
+4 more
Copy number loss
Retinitis pigmentosa 38
GPathogenic
MERTK
(T212P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
GUncertain significance
MERTK
(Y549*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 38
GPathogenic
MERTK
(I930fs)
Duplication
(frameshift variant)
not provided
+1 more
GUncertain significance
MERTK
(A158T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMEM87B, MERTK
Copy number loss
Retinitis pigmentosa 38
Gnot provided
MERTK
Deletion
(splice donor variant)
Retinitis pigmentosa 38
GLikely pathogenic
MERTK
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 38
GPathogenic
MERTK
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 38
GBenign
MERTK
(S245Y)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
GUncertain significance
MERTK
(Y173C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
GUncertain significance
MERTK
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MERTK
(N498S)
Inversion
(missense variant)
not provided
+1 more
GBenign/Likely benign
MERTK
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MERTK
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 38
GPathogenic
LOC112806037, MERTK
(E364*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 38
+1 more
GPathogenic
MERTK
(K615*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 38
GPathogenic
MERTK
(A446fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 38
GPathogenic
MERTK
(E434fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MERTK
(F199L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
+1 more
GUncertain significance
MERTK
(S860fs)
Duplication
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MERTK
(L683fs)
Microsatellite
(frameshift variant)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
MERTK
(C738fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
MERTK
(R722Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
+1 more
GUncertain significance
MERTK
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 38
GLikely pathogenic
MERTK
(G691fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 38
+1 more
GPathogenic
MERTK
(H721P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
GLikely pathogenic
MERTK
(I174F)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
GUncertain significance
MERTK
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa
+2 more
GPathogenic/Likely pathogenic
MERTK
(R844C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MERTK
(A768V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
GLikely pathogenic
MERTK
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 38
GPathogenic
LOC112806037, MERTK
(S331fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MERTK
(C115W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MERTK
(W231S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
GLikely pathogenic
MERTK
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 38
GPathogenic
MERTK
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 38
GLikely pathogenic
MERTK
(N498S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GBenign
MERTK
(R722*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
MERTK
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 38
GPathogenic
MERTK
(Y812S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MERTK
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+2 more
GBenign
MERTK
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
MERTK
(I518V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
MERTK
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 38
+3 more
GBenign
MERTK
(R466K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GBenign
MERTK
(A282T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
MERTK
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+2 more
GBenign
MERTK
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 38
+3 more
GBenign/Likely benign
MERTK
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
MERTK
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
MERTK
Deletion
Retinitis pigmentosa 38
GPathogenic
MERTK
(L731S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
GLikely pathogenic
MERTK
(R865W)
Single nucleotide variant
(missense variant)
MERTK-related condition
+3 more
GConflicting classifications of pathogenicity
MERTK
(Y754*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic
MERTK
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MERTK
(K109*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MERTK
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+4 more
GBenign
MERTK
(Q124*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 38
GLikely pathogenic
MERTK
(G484S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MERTK
(V870I)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign
MERTK
(R20S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MERTK
(S118N)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign
MERTK
(A951T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
MERTK
(R775*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MERTK
Deletion
Retinitis pigmentosa 38
GPathogenic
MERTK
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 38
GPathogenic
MERTK
Deletion
Retinitis pigmentosa 38
GPathogenic
MERTK
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+4 more
GPathogenic
MERTK
(R651*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
MERTK
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
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