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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCL11A
(E142* +9 more)
Single nucleotide variant
(nonsense +1 more)
Dias-Logan syndrome
GPathogenic
BCL11A
(P112R +6 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(E150fs +8 more)
Deletion
(frameshift variant +1 more)
Dias-Logan syndrome
GPathogenic
BCL11A
(H140fs +5 more)
Deletion
(frameshift variant +1 more)
Dias-Logan syndrome
GPathogenic
BCL11A
(L100W +6 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(C120S +6 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(D59V +2 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GLikely pathogenic
BCL11A
(E344* +9 more)
Single nucleotide variant
(nonsense +1 more)
Dias-Logan syndrome
GPathogenic
BCL11A
(E171* +9 more)
Single nucleotide variant
(nonsense +1 more)
Dias-Logan syndrome
GLikely pathogenic
CIC, PAFAH1B3
(R1286H +2 more)
Single nucleotide variant
(missense variant)
Dias-Logan syndrome
+1 more
GUncertain significance
BCL11A
Single nucleotide variant
(synonymous variant +1 more)
Dias-Logan syndrome
+1 more
GUncertain significance
BCL11A
(A211D +9 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(A245V +9 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(G275S +9 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(H43Y +1 more)
Single nucleotide variant
(missense variant)
Dias-Logan syndrome
GUncertain significance
BCL11A
(L45R +1 more)
Single nucleotide variant
(missense variant)
Dias-Logan syndrome
GUncertain significance
BCL11A
(P399T +9 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(P31A +1 more)
Single nucleotide variant
(missense variant)
Dias-Logan syndrome
GUncertain significance
BCL11A
(R199L +8 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(L220fs +1 more)
Deletion
(frameshift variant +1 more)
Dias-Logan syndrome
GPathogenic
BCL11A
Single nucleotide variant
(splice acceptor variant)
Dias-Logan syndrome
GUncertain significance
BCL11A
(I62fs)
Deletion
(frameshift variant)
Dias-Logan syndrome
GLikely pathogenic
BCL11A
(M1V)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
+1 more
GPathogenic/Likely pathogenic
BCL11A
(P339S +1 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(L12*)
Single nucleotide variant
(nonsense)
Dias-Logan syndrome
GPathogenic
BCL11A
(R679H +1 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(M1I)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GPathogenic
BCL11A
Single nucleotide variant
(synonymous variant)
Dias-Logan syndrome
GUncertain significance
BCL11A
(G582fs +1 more)
Indel
(frameshift variant +1 more)
Dias-Logan syndrome
GPathogenic
BCL11A
(V340fs +1 more)
Duplication
(frameshift variant +1 more)
Dias-Logan syndrome
GPathogenic
BCL11A
(C345fs +1 more)
Deletion
(frameshift variant +1 more)
Dias-Logan syndrome
GLikely pathogenic
BCL11A
(E473fs +1 more)
Deletion
(frameshift variant +1 more)
Dias-Logan syndrome
GLikely pathogenic
BCL11A
(G582fs +1 more)
Deletion
(frameshift variant +1 more)
Dias-Logan syndrome
GLikely pathogenic
BCL11A
(S768W +13 more)
Single nucleotide variant
(missense variant +2 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(C48R)
Single nucleotide variant
(missense variant)
Dias-Logan syndrome
GUncertain significance
BCL11A
Duplication
(intron variant)
Dias-Logan syndrome
+1 more
GConflicting classifications of pathogenicity
BCL11A
(S147fs +1 more)
Deletion
(frameshift variant)
Dias-Logan syndrome
GLikely pathogenic
BCL11A
(M521L +1 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GPathogenic
BCL11A
(M394K +1 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
GUncertain significance
BCL11A
(T106M)
Single nucleotide variant
(missense variant)
Dias-Logan syndrome
GUncertain significance
BCL11A
(C585* +1 more)
Single nucleotide variant
(nonsense +1 more)
Dias-Logan syndrome
GLikely pathogenic
BCL11A
(V99fs)
Deletion
(frameshift variant)
Cerebellar vermis hypoplasia
+3 more
GPathogenic/Likely pathogenic
BCL11A
(V500fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital cerebellar hypoplasia
+1 more
GPathogenic/Likely pathogenic
BCL11A
(L360V +1 more)
Single nucleotide variant
(missense variant +1 more)
Dias-Logan syndrome
+1 more
GUncertain significance
BCL11A
(E65*)
Single nucleotide variant
(nonsense)
Marfanoid habitus and intellectual disability
+1 more
GLikely pathogenic
BCL11A
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+1 more
GPathogenic
BCL11A
(Q177* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
BCL11A
(F642C +1 more)
Single nucleotide variant
(intron variant +1 more)
Dias-Logan syndrome
+2 more
GConflicting classifications of pathogenicity
BCL11A
(L326fs +1 more)
Duplication
(frameshift variant +1 more)
Neurodevelopmental delay
+2 more
GPathogenic
BCL11A
(Q52*)
Single nucleotide variant
(nonsense)
Dias-Logan syndrome
GLikely pathogenic
BCL11A
Insertion
(inframe_insertion +1 more)
Dias-Logan syndrome
GPathogenic
BCL11A
(H66Q)
Single nucleotide variant
(missense variant)
Dias-Logan syndrome
GPathogenic
BCL11A
(C48F)
Single nucleotide variant
(missense variant)
Dias-Logan syndrome
GPathogenic
BCL11A
(T47P)
Single nucleotide variant
(missense variant)
Dias-Logan syndrome
GPathogenic
BCL11A
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
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