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Links from MedGen

Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP1B
(S1121* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
GPathogenic
MAP1B
(V1054fs +1 more)
Deletion
(frameshift variant)
Periventricular nodular heterotopia 9
GLikely pathogenic
MAP1B
(S1791R +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GBenign
MAP1B
(S1139* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
GLikely pathogenic
MAP1B
(F168fs +1 more)
Deletion
(frameshift variant)
Hearing loss, autosomal dominant 83
+1 more
GPathogenic
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
(E824V +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(G1372R +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
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
MAP1B
(E1818K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MAP1B
(S996fs +1 more)
Duplication
(frameshift variant)
Periventricular nodular heterotopia 9
GLikely pathogenic
MAP1B
(Q2031H +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(V5G)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(R873* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
MAP1B
(T184A +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(P1966T +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
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
(Y1931K +1 more)
Indel
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(P1197S +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
(E591D +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
(T1545A +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
+1 more
GUncertain significance
MAP1B
(E208fs +1 more)
Deletion
(frameshift variant)
Periventricular nodular heterotopia 9
GLikely pathogenic
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
(K1306fs +1 more)
Insertion
(frameshift variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(T2119fs +1 more)
Deletion
(frameshift variant)
Periventricular nodular heterotopia 9
GLikely pathogenic
MAP1B
Deletion
(nonsense)
Periventricular nodular heterotopia 9
GLikely pathogenic
MAP1B
(R200W +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(P122T +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(M267I +1 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 9
GUncertain significance
MAP1B
(T1215I +1 more)
Single nucleotide variant
(missense variant)
Macrocephaly
+2 more
GUncertain significance
MAP1B
(E679* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
GPathogenic
MAP1B
(R1538* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MAP1B
(E1032* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
+5 more
GPathogenic; risk factor
MAP1B
(E586fs +1 more)
Deletion
(frameshift variant)
Periventricular nodular heterotopia 9
+4 more
GPathogenic; risk factor
MAP1B
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
MAP1B
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
MAP1B
(R1790* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
GPathogenic
MAP1B
(R1106* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
GUncertain significance
LOC129994023, MAP1B
(Q532* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
+1 more
GPathogenic/Likely pathogenic
MAP1B
(R303* +1 more)
Single nucleotide variant
(nonsense)
MAP1B-related disorder
+2 more
GPathogenic/Likely pathogenic
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