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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTPAP
(R523W)
Single nucleotide variant
(missense variant)
Spastic ataxia 4
GUncertain significance
MTPAP
(I428T)
Single nucleotide variant
(missense variant)
Spastic ataxia 4
GUncertain significance
MTPAP
(T281S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MTPAP
(L558P)
Single nucleotide variant
(missense variant)
Spastic ataxia 4
GUncertain significance
MTPAP
(Q156H)
Single nucleotide variant
(missense variant)
Spastic ataxia 4
+1 more
GUncertain significance
MTPAP
(V116I)
Single nucleotide variant
(missense variant)
Spastic ataxia 4
+1 more
GUncertain significance
MTPAP
(V490L)
Single nucleotide variant
(missense variant)
Spastic ataxia 4
GUncertain significance
MTPAP
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
LOC130003597, MTPAP
Single nucleotide variant
(intron variant)
Spastic ataxia 4
+2 more
GBenign
MTPAP
(R162C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
MTPAP
(N478D)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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