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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NFASC
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(Q667R +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(V1015I +4 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(A1059V +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(E1047K +5 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
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