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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRPX
(F414L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRPX
(M336L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRPX
(K334N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRPX
(P384S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRPX
(V318L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRPX
(R352L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRPX
(L312F +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRPX
(Q305K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRPX
(S279I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRPX
(K215M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRPX
(V198L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRPX
(E246Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRPX
(P167A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRPX
(I195F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRPX
(P159L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRPX
(V139I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRPX
(R137W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRPX
(R122Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRPX
(L123F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRPX
(I102T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRPX
(T59K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SRPX
(P15R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRPX
(S3R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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