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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
G2E3
(R18Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
G2E3
(N37T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
G2E3
(Y230C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(R239H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(P304L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(C314F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(P275T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(L364W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(K368E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(N324S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(D445E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(E542A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(K593E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(D613N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(I643V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(I689R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(L693V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
G2E3
(I704V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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