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Links from Gene

Items: 1 to 100 of 243

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NFASC
(H1004Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NFASC
(P40L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(P968S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(V539L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(P376R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(D48H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(S544F +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(N1026D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(P6L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(K868R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(P961L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(H1048D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(R687W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(R933C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
NFASC
(N440D +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(N35S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GLikely benign
NFASC
(T32M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(A1049T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NFASC
(R71Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(V1000M +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(T275A +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(V704I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(A1079T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NFASC
(R133H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
(S1087N +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuromuscular disease
GUncertain significance
NFASC
(R796P +2 more)
Single nucleotide variant
(missense variant)
Neuromuscular disease
GUncertain significance
NFASC
(D1038A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NFASC
(C1058Y +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(V428M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(Y691C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(R538W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(P1020R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(D57G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(S1063R +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(P515L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(A588T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NFASC
(M762V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(T1033N +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
NFASC
(R436W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NFASC
(G1070R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(P712L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(G1107R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NFASC
(P616Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(L295Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RPS6KC1, SERTAD4
+185 more
Deletion
not provided
GPathogenic
NFASC
(M170V +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(M207I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(R182H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(M1064T +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(G1036R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(P1035L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(T996S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(V1009M +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(R1013C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(R939Q +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(R796Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(P693S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(E523K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(V47M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(R447Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
Copy number loss
not specified
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant)
NFASC-related disorder
GBenign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +2 more)
NFASC-related disorder
GBenign
NFASC
Single nucleotide variant
(intron variant)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(intron variant)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(intron variant)
NFASC-related disorder
GLikely benign
NFASC
(R520Q +2 more)
Single nucleotide variant
(missense variant +1 more)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(3 prime UTR variant)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(intron variant)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
Single nucleotide variant
(intron variant)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant)
NFASC-related disorder
GBenign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related disorder
GBenign
NFASC
(I1070V +1 more)
Single nucleotide variant
(missense variant +1 more)
NFASC-related disorder
GBenign
NFASC
Single nucleotide variant
(synonymous variant)
NFASC-related disorder
GLikely benign
NFASC
(K919R +2 more)
Single nucleotide variant
(missense variant +1 more)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related disorder
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NFASC
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NFASC
(K1050R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
NFASC
(V1018M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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