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Links from MedGen

Items: 1 to 100 of 102

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANK3
(E854K +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(L255S +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(N340Y +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(D120Y +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(M1305T +3 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
(S2912P)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(E3849G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ANK3
(I3012T)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(G3848E)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
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
(H2652Y)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
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
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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
(R194* +2 more)
Single nucleotide variant
(nonsense)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GLikely pathogenic
ANK3
(E80Q +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(G406S +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GConflicting classifications of pathogenicity
ANK3
(R2501W)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+2 more
GUncertain significance
ANK3
(N2643S)
Single nucleotide variant
(intron variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GUncertain significance
ANK3
(V1923G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ANK3
(R1237H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANK3
(I1196V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ANK3
(I3200V)
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GUncertain significance
ANK3
(S4048L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ANK3
(E2663K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ANK3
(V3114A)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GUncertain significance
ANK3
(S1487P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
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
(E1926del)
Microsatellite
(intron variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+2 more
GUncertain significance
ANK3
(S1826R +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(N207S +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+2 more
GUncertain significance
ANK3
(V3466D)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+2 more
GUncertain significance
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GBenign
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GBenign
ANK3
Duplication
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GBenign
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GBenign
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GBenign
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GBenign
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GBenign
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GBenign
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GBenign
ANK3
(V1318I +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
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
(R692* +2 more)
Single nucleotide variant
(nonsense)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GLikely pathogenic
ANK3
(S1612C +3 more)
Single nucleotide variant
(missense variant +1 more)
ANK3-related disorder
+1 more
GConflicting classifications of pathogenicity
ANK3
(R3719C)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(S3322F)
Single nucleotide variant
(intron variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ANK3
(I2041T)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(K1074R +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANK3
(M806V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GConflicting classifications of pathogenicity
ANK3
(S4377L +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANK3
(E2736D)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(P3678fs)
Deletion
(frameshift variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GPathogenic
ANK3
Duplication
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GBenign
ANK3
(Q21* +3 more)
Single nucleotide variant
(nonsense)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GPathogenic
ANK3
(R1237C +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(R1460H +4 more)
Single nucleotide variant
(missense variant)
ANK3-related disorder
+2 more
GBenign/Likely benign
ANK3
Single nucleotide variant
(synonymous variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+2 more
GBenign/Likely benign
ANK3
(R1575W)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GUncertain significance
ANK3
(G902R +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(I1808V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
ANK3
(K2306E)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ANK3
(R1636K)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
ANK3
(T1861M)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
ANK3
(A2023T)
Single nucleotide variant
(intron variant +1 more)
not specified
+2 more
GUncertain significance
ANK3
(K2864N)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+2 more
GConflicting classifications of pathogenicity
ANK3
(T3333S)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
ANK3
(E3563G)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ANK3
(R1853Q +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
ANK3
(R44* +2 more)
Single nucleotide variant
(nonsense)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GConflicting classifications of pathogenicity
ANK3
(A622T +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GUncertain significance
ANK3
(A3312V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ANK3
(R2232Q)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+3 more
GUncertain significance
ANK3
(R846H +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+2 more
GUncertain significance
ANK3
(I2916V)
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GUncertain significance
ANK3
(S2858L)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
ANK3
(G2845E)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+3 more
GConflicting classifications of pathogenicity
ANK3
(P2490L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+3 more
GConflicting classifications of pathogenicity
ANK3
(Q2185H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ANK3
(P1489S)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+3 more
GConflicting classifications of pathogenicity
ANK3
(K1452R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ANK3
Duplication
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GBenign/Likely benign
ANK3
(K3942R)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+2 more
GConflicting classifications of pathogenicity
ANK3
(D962H +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GConflicting classifications of pathogenicity
ANK3
(K3123R)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GBenign
ANK3
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GBenign
ANK3
Single nucleotide variant
(synonymous variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GBenign
ANK3
Single nucleotide variant
(synonymous variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GBenign
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