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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NFASC
(P557L +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(R800* +2 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GLikely pathogenic
NFASC
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(T1080I +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(D1045N +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
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