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Links from MedGen

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NFIB
(Q237* +6 more)
Single nucleotide variant
(nonsense +1 more)
Macrocephaly, acquired, with impaired intellectual development
GLikely pathogenic
NFIB
(Q10fs)
Duplication
(frameshift variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GPathogenic
NFIB
(L103R +6 more)
Single nucleotide variant
(missense variant)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
Single nucleotide variant
(splice acceptor variant)
Macrocephaly, acquired, with impaired intellectual development
GPathogenic
NFIB
(V136M +6 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
Single nucleotide variant
(intron variant)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(P140A +11 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(S142T +10 more)
Single nucleotide variant
(missense variant +2 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(P15A +11 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(K105E +6 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GLikely pathogenic
NFIB
(Y20C +5 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(W22fs +5 more)
Deletion
(frameshift variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GPathogenic
NFIB
(D101N +6 more)
Single nucleotide variant
(missense variant)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(R106fs +13 more)
Deletion
(frameshift variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GPathogenic
NFIB
(K139fs +11 more)
Deletion
(frameshift variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GLikely pathogenic
NFIB, NFIB-AS1
Single nucleotide variant
(intron variant)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(R39* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
NFIB
(Y154C +13 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(S127W +13 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(K130R +6 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(E305Q +11 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(D116fs +6 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
NFIB
(K3fs +6 more)
Deletion
(frameshift variant)
Macrocephaly, acquired, with impaired intellectual development
GLikely pathogenic
NFIB
(R122* +11 more)
Single nucleotide variant
(nonsense +1 more)
Macrocephaly, acquired, with impaired intellectual development
GLikely pathogenic
NFIB
(R120H +6 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(N119K +9 more)
Single nucleotide variant
(missense variant +3 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(L11fs +11 more)
Microsatellite
(frameshift variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(S304P +13 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
GUncertain significance
NFIB
(R35C +5 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
+1 more
GPathogenic/Likely pathogenic
NFIB
(I103fs +13 more)
Deletion
(frameshift variant +1 more)
Macrocephaly
+1 more
GPathogenic
NFIB
(N254* +11 more)
Duplication
(nonsense +2 more)
Macrocephaly
+1 more
GPathogenic
NFIB
(L132P +6 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
+2 more
GPathogenic/Likely pathogenic
NFIB
(K126E +6 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
+3 more
GPathogenic/Likely pathogenic
NFIB
(K114T +6 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly
+1 more
GPathogenic
NFIB
(R37* +5 more)
Single nucleotide variant
(nonsense +1 more)
Macrocephaly, acquired, with impaired intellectual development
+3 more
GPathogenic
NFIB
(R89* +6 more)
Single nucleotide variant
(nonsense)
Macrocephaly, acquired, with impaired intellectual development
+3 more
GConflicting classifications of pathogenicity
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