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Items: 1 to 100 of 124

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
ACVR1B, ACVRL1
+206 more
Copy number loss
See cases
GPathogenic
DIP2B, FRA12A
+1 more
Insertion
Intellectual disability, FRA12A type
GPathogenic
DIP2B, FRA12A
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
DIP2B
(R4P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(S9L)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DIP2B
(A14V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(P17L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATF1, DIP2B
+14 more
Copy number gain
See cases
GUncertain significance
DIP2B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DIP2B
(P54L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR1B, ACVRL1
+136 more
Copy number loss
See cases
GPathogenic
DIP2B
(A73V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(S80Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(R87*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
DIP2B
(R97Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(M119V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(N170K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(E172A)
Single nucleotide variant
(missense variant)
DIP2B-related disorder
GUncertain significance
DIP2B
(S229T)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
(S231*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
DIP2B
(A238T)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
(N239D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(D241E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(P244A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(D265N)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
DIP2B
(V297fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
DIP2B
(C333S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DIP2B
(L343fs)
Indel
(frameshift variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
(R345C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(R345H)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
(T349S)
Single nucleotide variant
(missense variant)
not provided
GBenign
DIP2B
(S354P)
Single nucleotide variant
(missense variant)
DIP2B-related disorder
+1 more
GLikely benign
DIP2B
(Y367C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(T368A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(I432V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(R484W)
Single nucleotide variant
(missense variant)
DIP2B-related disorder
GBenign
DIP2B
(S492Y)
Single nucleotide variant
(missense variant)
DIP2B-related disorder
GLikely benign
DIP2B
(K493N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(D501V)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
(S507L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(P513S)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
(E523Q)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
(R533Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(M536V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
Single nucleotide variant
(synonymous variant)
DIP2B-related disorder
+1 more
GBenign/Likely benign
DIP2B
Single nucleotide variant
(intron variant)
DIP2B-related disorder
GLikely benign
DIP2B
(V558I)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
(M571V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
DIP2B
(V584I)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
+1 more
GUncertain significance
DIP2B
Single nucleotide variant
(intron variant)
Intellectual disability, FRA12A type
GBenign
DIP2B
(V610A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(R634Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, FRA12A type
+1 more
GBenign
DIP2B
(F657S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
Single nucleotide variant
(synonymous variant)
DIP2B-related disorder
+1 more
GLikely benign
DIP2B
(I681V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
Single nucleotide variant
(synonymous variant)
DIP2B-related disorder
GLikely benign
DIP2B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DIP2B
(N772S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(G783S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(S784F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(I792V)
Single nucleotide variant
(missense variant)
DIP2B-related disorder
GLikely benign
DIP2B
(P802L)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
(V829I)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
(S852fs)
Microsatellite
(frameshift variant)
DIP2B-related disorder
GUncertain significance
DIP2B
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
DIP2B
(A884V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DIP2B
(S887T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DIP2B
(A897P)
Single nucleotide variant
(missense variant)
DIP2B-related disorder
GUncertain significance
DIP2B
(T917M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(Q919K)
Single nucleotide variant
(missense variant)
DIP2B-related disorder
+1 more
GConflicting classifications of pathogenicity
DIP2B
(Q949P)
Single nucleotide variant
(missense variant)
DIP2B-related disorder
GLikely benign
DIP2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, FRA12A type
GBenign
DIP2B
(K987R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
Deletion
(splice acceptor variant)
Intellectual disability, FRA12A type
GConflicting classifications of pathogenicity
DIP2B
(H988Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(A992T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(M1009fs)
Duplication
(frameshift variant)
DIP2B-related disorder
GUncertain significance
DIP2B
(T1016N)
Single nucleotide variant
(missense variant)
DIP2B-related disorder
GUncertain significance
DIP2B
(A1061T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(C1071S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(V1076I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(H1080Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(R1092Q)
Single nucleotide variant
(missense variant)
Intellectual disability, FRA12A type
GUncertain significance
DIP2B
(A1101G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(A1101D)
Single nucleotide variant
(missense variant)
DIP2B-related disorder
GUncertain significance
DIP2B
(R1116*)
Single nucleotide variant
(nonsense)
Generalized non-motor (absence) seizure
GUncertain significance
DIP2B
(T1129A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(I1130V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DIP2B
(P1150S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
DIP2B
(V1160I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(A1208S)
Single nucleotide variant
(missense variant)
DIP2B-related disorder
GUncertain significance
DIP2B
(Y1216H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
(I1274V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIP2B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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