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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLURP1
(D81E)
Single nucleotide variant
(missense variant)
Acroerythrokeratoderma
GPathogenic
SLURP1
(R71C)
Single nucleotide variant
(missense variant)
Acroerythrokeratoderma
GUncertain significance
SLURP1
(C37*)
Single nucleotide variant
(nonsense)
Acroerythrokeratoderma
GLikely pathogenic
SLURP1
(T56M)
Single nucleotide variant
(missense variant)
Acroerythrokeratoderma
GUncertain significance
SLURP1
(V68M)
Single nucleotide variant
(missense variant)
Acroerythrokeratoderma
GUncertain significance
SLURP1
Single nucleotide variant
(3 prime UTR variant)
Acroerythrokeratoderma
GUncertain significance
SLURP1
Single nucleotide variant
(3 prime UTR variant)
Acroerythrokeratoderma
GUncertain significance
SLURP1
(S16I)
Single nucleotide variant
(missense variant)
Acroerythrokeratoderma
GUncertain significance
SLURP1
(R42H)
Single nucleotide variant
(missense variant)
Acroerythrokeratoderma
+1 more
GUncertain significance
SLURP1
Single nucleotide variant
(synonymous variant)
Acroerythrokeratoderma
GUncertain significance
SLURP1
(T53M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SLURP1
Single nucleotide variant
(stop lost)
not provided
+1 more
GConflicting classifications of pathogenicity
SLURP1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLURP1
Single nucleotide variant
(intron variant)
Acroerythrokeratoderma
GUncertain significance
SLURP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SLURP1
Single nucleotide variant
(3 prime UTR variant)
Acroerythrokeratoderma
GUncertain significance
SLURP1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
SLURP1
(R4C)
Single nucleotide variant
(missense variant)
Acroerythrokeratoderma
+2 more
GUncertain significance
SLURP1
(C99Y)
Single nucleotide variant
(missense variant)
Acroerythrokeratoderma
GPathogenic
SLURP1
(C77R)
Single nucleotide variant
(missense variant)
Acroerythrokeratoderma
GPathogenic
SLURP1
(W15R)
Single nucleotide variant
(missense variant)
Acroerythrokeratoderma
GPathogenic
SLURP1
(M1L)
Single nucleotide variant
(missense variant +1 more)
Acroerythrokeratoderma
GPathogenic
SLURP1
(G86R)
Single nucleotide variant
(missense variant)
Acroerythrokeratoderma
GPathogenic
SLURP1
(G86R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SLURP1
(R96*)
Single nucleotide variant
(nonsense)
Acroerythrokeratoderma
GPathogenic
SLURP1
Single nucleotide variant
(splice donor variant)
Acroerythrokeratoderma
GPathogenic
SLURP1
(C28fs)
Deletion
(frameshift variant)
Acroerythrokeratoderma
+1 more
GPathogenic
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