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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GORASP2
(P35L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
GORASP2
(R12Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(V16I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(N109S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(L152F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(R137C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(S146P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(P223S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(P241A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(G251E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GORASP2
(Q217E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(S224F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(A231P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(P289S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(P369L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(A393T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(T400A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(D345A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(P417R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(V425A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(D363N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GORASP2
(E369K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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