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Links from MedGen

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIN3A
(V504D)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
(R340fs)
Deletion
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(D323fs)
Duplication
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(H31R)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
Insertion
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
(Q604*)
Single nucleotide variant
(nonsense)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
Single nucleotide variant
(splice donor variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
(Q132*)
Single nucleotide variant
(nonsense)
SIN3A-related intellectual disability syndrome due to a point mutation
Gnot provided
SIN3A
Single nucleotide variant
(splice acceptor variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
Duplication
(splice acceptor variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(Q1009*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SIN3A
Duplication
(nonsense)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
(E836*)
Single nucleotide variant
(nonsense)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(D833V)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(Q207E)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(T1218S)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GConflicting classifications of pathogenicity
SIN3A
(M1067T)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
Single nucleotide variant
(synonymous variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(H1207R)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(P417L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIN3A
(R471*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SIN3A
Single nucleotide variant
(intron variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
(V58fs)
Deletion
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(G972V)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(A477V)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(Y1262fs)
Deletion
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
(G96S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SIN3A
(Q117*)
Single nucleotide variant
(nonsense)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(R1205H)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(S421fs)
Duplication
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
Single nucleotide variant
(synonymous variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(G829R)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(R1116C)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(N1158fs)
Duplication
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
(I1016fs)
Microsatellite
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SIN3A
(R718*)
Single nucleotide variant
(nonsense)
SIN3A-related intellectual disability syndrome due to a point mutation
+1 more
GPathogenic
SIN3A
(K948E)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(R935*)
Single nucleotide variant
(nonsense)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic/Likely pathogenic
SIN3A
(P688L)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(R984fs)
Duplication
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
(G733R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIN3A
(V1214I)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SIN3A
(H458R)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(S71F)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
+1 more
GUncertain significance
SIN3A
(P351S)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(Q339*)
Single nucleotide variant
(nonsense)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(R928Q)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
+1 more
GUncertain significance
SIN3A
(H259P)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(E754fs)
Duplication
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(L669F)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
(K410fs)
Deletion
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(S289*)
Single nucleotide variant
(nonsense)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
(L669H)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
Single nucleotide variant
(synonymous variant)
SIN3A-related intellectual disability syndrome due to a point mutation
+1 more
GBenign/Likely benign
SIN3A
(M1156L)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
+1 more
GBenign/Likely benign
SIN3A
(H283fs)
Duplication
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
COMMD4, CSPG4
+8 more
Duplication
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
SIN3A
(K948fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SIN3A
(K937fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SIN3A
(Q1040fs)
Microsatellite
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(R1104*)
Single nucleotide variant
(nonsense)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(E985fs)
Microsatellite
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic/Likely pathogenic
SIN3A
(S587fs)
Deletion
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
Deletion
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
SIN3A
(L269fs)
Duplication
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GPathogenic
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