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Items: 1 to 100 of 1298

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A1CF, ADO
+561 more
Copy number gain
See cases
GPathogenic
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
ADO, ANK3
+227 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
LOC124403968, LOC124403969
+220 more
Deletion
Intellectual developmental disorder, autosomal dominant 70
GLikely pathogenic
ANK3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GBenign
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GBenign
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GBenign
ANK3
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
ANK3
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
ANK3
(S4377L +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GUncertain significance
ANK3
(H1854L +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
(R1853Q +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+2 more
GBenign/Likely benign
ANK3
(R1860W +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
ANK3
(K1845M +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANK3
Single nucleotide variant
(intron variant)
not provided
GBenign
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GBenign
ANK3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ANK3
Duplication
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GBenign
ANK3
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
ANK3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK3
(E4347D +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANK3
(E970G +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANK3
(H1828Y +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(S1826R +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ANK3
(S1826R +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(A1819V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
(S1820I +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(M953I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANK3
(S1816N +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(E1806D +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(K1802N +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(P1780R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANK3
(T903I +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
(G1759R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
(D1757E +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
(Q1761H +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(T4263fs +4 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
ANK3
(A4261V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANK3
Deletion
(inframe_indel)
not provided
GUncertain significance
ANK3
(I1741V +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANK3
(N1735S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANK3
(K1737R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(G1727E +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANK3
Single nucleotide variant
(intron variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GBenign
ANK3
Duplication
(splice donor variant)
not provided
GUncertain significance
ANK3
(R1709Q +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(D1708E +4 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ANK3
(T1703S +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(R4217T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(R1701G +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(R4216Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANK3
(A1704T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANK3
(E1694A +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
ANK3
(V1670E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK3
(D1654Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ANK3
Single nucleotide variant
(synonymous variant +1 more)
ANK3-related disorder
GBenign
ANK3
(G1634E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ANK3
(S1612C +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(Y1607D +3 more)
Single nucleotide variant
(missense variant +1 more)
ANK3-related disorder
GLikely benign
ANK3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK3
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
ANK3
(P1577L +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(N1578D +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(N1571T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(N1571S +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
(I1555V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
(S1544L +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK3
Deletion
(intron variant)
not provided
GLikely benign
ANK3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK3
(G1527R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANK3
(K1526E +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(L4138F +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(M4136V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(R1504H +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
(I1500T +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 66
GUncertain significance
ANK3
(A1490S +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK3
Single nucleotide variant
(synonymous variant)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GConflicting classifications of pathogenicity
ANK3
(M1475T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance

Items: 1 to 100 of 1298

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