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Links from Gene

Items: 1 to 100 of 406

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDM5B
Duplication
(intron variant)
not specified
GBenign
KDM5B
Deletion
(intron variant)
not specified
GLikely benign
KDM5B
(W147* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
KDM5B
(R798Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(I372V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(V629G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(Q828fs +3 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
KDM5B
(L416F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(E742fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic
KDM5B
(L576P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(K594E +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(T1306K +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B, LOC129932249
(C62S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(L1048P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(N460K +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(A632P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(F365L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(D1466E +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(V1006I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(T381N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(R120G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129932250, KDM5B
(H8Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(R1461P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(T1201I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(V444A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(R1027C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(A1023S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(N1069S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
KDM5B
(K696R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(N314S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
KDM5B
(S1124L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(N341S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(Y475C +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 65
GUncertain significance
KDM5B
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal recessive 65
GLikely pathogenic
KDM5B
(A482V +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 65
GUncertain significance
KDM5B
(A343fs +3 more)
Duplication
(frameshift variant)
Intellectual disability, autosomal recessive 65
GLikely pathogenic
KDM5B
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
KDM5B
(P29S)
Single nucleotide variant
(missense variant)
Neurodevelopmental abnormality
GLikely pathogenic
KDM5B, LOC129932249
(P67Q)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 65
GUncertain significance
KDM5B
(C1447S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(A233fs +2 more)
Microsatellite
(frameshift variant +1 more)
not provided
GLikely pathogenic
KDM5B
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
KDM5B
(I166N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(L1100F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(M194I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(V719I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(D1272V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(S1348L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(V918M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(I232T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(F98L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(L849V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(A1389T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(S1497T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(M260L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal recessive 65
GLikely pathogenic
KDM5B
(V629L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(I867V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KDM5B
(A1142S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(C293F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDM5B
(P513S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(R224* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
KDM5B, LOC129932250
(L27P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KDM5B
(R782Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(E1034K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(R621fs +3 more)
Deletion
(frameshift variant)
Neurodevelopmental disorder
GPathogenic
KDM5B
(S460N +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GLikely pathogenic
KDM5B
(K104fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal recessive 65
GPathogenic
KDM5B
(V1159M +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GUncertain significance
KDM5B
(E89K +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GLikely pathogenic
KDM5B
(C1490* +3 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 65
GUncertain significance
KDM5B
(L368R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(D1484G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KDM5B
(S749P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(D433V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
KDM5B
(I196V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(K1062T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(M419V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(N274fs +3 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal recessive 65
GPathogenic
KDM5B
(C435R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(H467D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(P420L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(R1208* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
KDM5B
(W366R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM5B
(P1388S +3 more)
Single nucleotide variant
(missense variant)
KDM5B-related disorder
GUncertain significance
KDM5B
(Q101* +1 more)
Single nucleotide variant
(nonsense)
KDM5B-related disorder
GLikely pathogenic
KDM5B, LOC129932249
Single nucleotide variant
(intron variant)
KDM5B-related disorder
GUncertain significance
KDM5B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDM5B
(L269* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
KDM5B
(M1144fs +3 more)
Insertion
(frameshift variant)
not provided
GPathogenic
KDM5B, LOC129932249
(W39*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
KDM5B
(P1106R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(K950R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
KDM5B
(T157N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(P1012Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(D847G +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM5B
(I699V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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