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Links from Gene

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP1B
(V1054fs +1 more)
Deletion
(frameshift variant)
Periventricular nodular heterotopia 9
GLikely pathogenic
LOC129994023, MAP1B
(P402S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(M2320V +1 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 83
GUncertain significance
LOC129994023, MAP1B
(R416* +1 more)
Single nucleotide variant
(nonsense)
MAP1B-related disorder
GLikely pathogenic
MAP1B
(M127I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MAP1B
(V1195E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(L79F)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(S1093G +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(S87fs)
Microsatellite
(frameshift variant)
Periventricular nodular heterotopia 9
GLikely pathogenic
MAP1B
(G1729R +1 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 83
+1 more
GUncertain significance
MAP1B
(E206D +1 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 83
+1 more
GUncertain significance
LOC129994023, MAP1B
(K405E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(Y1704C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129994023, MAP1B
(V399M +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MAP1B
(T1874I +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(E1982D +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(E1767A +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(K760R +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(D1189N +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(R1273C +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(Q2015* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
GLikely pathogenic
MAP1B
(R2186H +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(R133G +1 more)
Single nucleotide variant
(missense variant)
Seizure
GUncertain significance
MAP1B
(Y1044S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(P693fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
MAP1B
(R2140L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129994023, MAP1B
(Q532* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
+1 more
GPathogenic/Likely pathogenic
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