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Links from Gene

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860792, PMPCA
(Y115* +2 more)
Duplication
(nonsense)
not provided
GUncertain significance
LOC126860792, PMPCA
Single nucleotide variant
(intron variant)
not specified
GLikely benign
LOC126860792, PMPCA
(L140F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126860792, PMPCA
(P117R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126860792, PMPCA
(E202Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126860792, PMPCA
(R137W +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 2
GUncertain significance
LOC126860792, PMPCA
(E130D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126860792, PMPCA
(P276L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126860792, PMPCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126860792, PMPCA
(S149N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126860792, PMPCA
(A212V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126860792, PMPCA
(R104Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126860792, PMPCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PMPCA, LOC126860792
(R123C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 2
GUncertain significance
LOC126860792, PMPCA
(R250H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC126860792, PMPCA
(R185W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130003010, PMPCA
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 2
GUncertain significance
LOC126860792, PMPCA
(P103S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126860792, PMPCA
(V230I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LOC126860792, PMPCA
(P276S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126860792, PMPCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126860792, PMPCA
(G124S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130003010, PMPCA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126860792, PMPCA
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
LOC126860792, PMPCA
(M151V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PMPCA
(L234F +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia
GUncertain significance
LOC126860792, PMPCA
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC126860792, PMPCA
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 2
GUncertain significance
LOC126860792, PMPCA
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126860792, PMPCA
(R268Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 2
GUncertain significance
LOC126860792, PMPCA
(M108V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126860792, PMPCA
(T84M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126860792, PMPCA
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
LOC126860792, PMPCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126860792, PMPCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126860792, PMPCA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126860792, PMPCA
(E182K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126860792, PMPCA
(R185Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 2
GPathogenic
PMPCA, LOC130003010
(R22W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 2
GPathogenic
LOC126860792, PMPCA
(V256M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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