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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC101927164, NVL
(R743H +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
NVL
(A713S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NVL
(I553L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NVL
(E354K +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NVL
(I339T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NVL
(R337Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NVL
(R403W +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NVL
(I180V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NVL
(I176V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NVL
(D103A +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
NVL
(D100N +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
NVL
(E145G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NVL
(Y127C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NVL
(D104G)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NVL
(A87S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
NVL
(A6T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
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