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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRL
(C420Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(G406S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(E357D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(M358I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(V305A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(F290L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(R241H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(T186A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(E154K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(R185W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(P49S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(K48Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(E4D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRL
(D25Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SRL
(A12V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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