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Links from Gene

Items: 1 to 100 of 399

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP1B
(K1748N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(D612Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(K545T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(A1100G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(S1537G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(D2090Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(Y1044C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(Y1940C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(L2279V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(W169R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(Q1315fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MAP1B
(E1759del +1 more)
Microsatellite
not provided
GUncertain significance
MAP1B
(G142E +1 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 83
GUncertain significance
MAP1B
(K2125N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(D2332fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
MAP1B
(T1191A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(E1023del +1 more)
Microsatellite
(inframe_deletion)
MAP1B-related disorder
GLikely benign
MAP1B
(I46M)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
(P504S +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
(A147V +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
(G1311D +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GLikely benign
MAP1B
(P1313S +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
(N182S +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
(R1951H +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
(L1875V +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
(F714V +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
(A1020S +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
(P2164S +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
(R360* +1 more)
Single nucleotide variant
(nonsense)
MAP1B-related disorder
GLikely pathogenic
MAP1B
(A2278S +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
(E1526V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(R177L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP1B
(T1559N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP1B
(S2272fs +1 more)
Deletion
(frameshift variant)
Periventricular nodular heterotopia 9
GLikely pathogenic
MAP1B
(E834K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP1B
(P1739T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(P520L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(E586D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(G1801R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(Y1039C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(V962L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(I1926V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(E869K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(Q314R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(T1896S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(V1201M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(G1828A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(V1258M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(L552F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(L1090S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(T2067A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(Y1931F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(S1121* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
GPathogenic
MAP1B
(H51P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(A255T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP1B
(G806S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP1B
(V1054fs +1 more)
Deletion
(frameshift variant)
Periventricular nodular heterotopia 9
GLikely pathogenic
MAP1B
(A1076V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS6, CDK7
+40 more
Copy number loss
See cases
GPathogenic
MAP1B
(A273T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(P2122S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(T1998I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(Y1897fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
MAP1B
(I1800T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MAP1B
(Y1906C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(Y1670H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(P1738L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(D1588N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MAP1B
(I1342V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(P1257L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MAP1B
(V1142M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(N979Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(H1086L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(A1082T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MAP1B
(G930S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MAP1B
(E787K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(E793K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(K718Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP1B
(P579L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MAP1B
(A535S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MAP1B
(T439A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LOC129994023, MAP1B
(P402S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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
GPathogenic
MAP1B
(M2320V +1 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 83
GUncertain significance
MAP1B
(N211K +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GLikely benign
MAP1B
Single nucleotide variant
(synonymous variant)
MAP1B-related disorder
GLikely benign
MAP1B
Single nucleotide variant
(synonymous variant)
MAP1B-related disorder
GLikely benign
MAP1B
(R1822Q +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GLikely benign
MAP1B
(P1231S +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GLikely benign
MAP1B
(E1193K +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GBenign
MAP1B
Single nucleotide variant
(synonymous variant)
MAP1B-related disorder
GLikely benign
LOC129994023, MAP1B
(R416* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MAP1B
Single nucleotide variant
(synonymous variant)
MAP1B-related disorder
GLikely benign
MAP1B
(A2003V +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
MAP1B
Single nucleotide variant
(synonymous variant)
MAP1B-related disorder
GLikely benign
MAP1B
Single nucleotide variant
(synonymous variant)
MAP1B-related disorder
GLikely benign
MAP1B
(R1079Q +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GLikely benign
MAP1B
(I224N +1 more)
Single nucleotide variant
(missense variant)
MAP1B-related disorder
GUncertain significance
Display optionsSort by RelevanceDownload
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