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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MERTK
(R20S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MERTK
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
MERTK
(P92L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MERTK
(S118N)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign
MERTK
(A258E)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
MERTK
(A264G)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GUncertain significance
MERTK
(V272M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MERTK
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC112806037, MERTK
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MERTK
(R421W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MERTK
(E632K)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GUncertain significance
MERTK
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MERTK
Duplication
(intron variant)
not provided
GConflicting classifications of pathogenicity
MERTK
(T690I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MERTK
(C738W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MERTK
(Y812S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MERTK
(R865W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MERTK
(V870I)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign
MERTK
(A951T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
MERTK
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+4 more
GBenign
MERTK
(D990Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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