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Links from Gene

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANK3
(N340Y +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(D1449Y)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(D105N +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(T1121M +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3, LOC130003862
(P2286fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
ANK3
(K3864R)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(P1589L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(R1405G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3, LOC130003862
(G2259S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ANK3
(K24R +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(S173L +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(M1327V +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(R1998W)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(A605fs +2 more)
Deletion
(frameshift variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GLikely pathogenic
ANK3, LOC130003862
(V2273F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ANK3, LOC130003862
(A2263E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ANK3, LOC130003862
(I2267T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK3, LOC130003862
(G2259C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK3, LOC130003862
(G2260R)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
ANK3, LOC130003862
(R2284Q)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
ANK3, LOC130003862
(G2260S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK3, LOC130003862
(H2274R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ANK3, LOC130003862
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ANK3, LOC130003862
(T2270S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK3, LOC130003862
(S2264P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK3, LOC130003862
(G2262D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC130003862, ANK3
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
ANK3, LOC130003862
(H2296R)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
ANK3, LOC130003862
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
ANK3, LOC130003862
(P2258S)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
ANK3
(A5S)
Single nucleotide variant
(missense variant)
ANK3-related neurodevelopmental disorder
GUncertain significance
ANK3
(D536N +2 more)
Single nucleotide variant
(missense variant)
ANK3-related neurodevelopmental disorder
GUncertain significance
ANK3
(E80Q +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3, LOC130003862
(Q2281*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
ANK3, LOC130003862
(P2258R)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(S4077R)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(S1728F)
Single nucleotide variant
(intron variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(A630T +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(E3084D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK3
Deletion
(inframe_deletion +1 more)
Intellectual disability
GLikely benign
ANK3
(W1989R)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GLikely benign
ANK3
(N46I +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
ANK3
(I50V +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
ANK3
Single nucleotide variant
(synonymous variant)
Intellectual disability
GLikely benign
ANK3
(E3321D)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GLikely benign
ANK3
(C1735F)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GLikely benign
ANK3
(H437R +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(R2239C)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(E2736D)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(D1446H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK3
(D3340V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK3, LOC130003862
Single nucleotide variant
(synonymous variant +1 more)
ANK3-related condition
+1 more
GBenign
ANK3, LOC130003862
(H2296Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANK3, LOC130003862
(A2299T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK3, LOC130003862
(M2271R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK3
(S426L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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