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Links from MedGen

Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTBN1
(T1744M +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(P798S +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(R430H +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(E512K +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(S1230L +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(T46I +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely pathogenic
SPTBN1, SPTBN1-AS2
(Q2300*)
Single nucleotide variant
(nonsense)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(M172L +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(D1004G +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1, SPTBN1-AS2
(M2295V)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(K201R +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(G1756fs +1 more)
Deletion
(frameshift variant)
Developmental delay, impaired speech, and behavioral abnormalities
GPathogenic
SPTBN1
(Q1269* +1 more)
Single nucleotide variant
(nonsense)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely pathogenic
SPTBN1
(H1297Y +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(R276* +1 more)
Single nucleotide variant
(nonsense)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely pathogenic
SPTBN1, SPTBN1-AS2
(P2342A)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(F1532S +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(T46S +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GPathogenic
SPTBN1, SPTBN1-AS2
(V2313M)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(R723L +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(A1644V +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(C848R +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(V245M +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(R464C +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely pathogenic
SPTBN1
Single nucleotide variant
(splice donor variant)
Developmental delay, impaired speech, and behavioral abnormalities
GPathogenic
SPTBN1
(R959W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SPTBN1
(R131W +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(F209L +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(S2052C +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(A396V +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely benign
SPTBN1
(R335P +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely pathogenic
SPTBN1
(H183Y +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely pathogenic
SPTBN1
(D1164fs +1 more)
Duplication
(frameshift variant)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely pathogenic
SPTBN1
(Y1290* +1 more)
Single nucleotide variant
(nonsense)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely pathogenic
SPTBN1
(F1903L +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(R1571H +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(L811P +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(R1890H +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(F144V +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(E1886Q +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GPathogenic
SPTBN1
(E892* +1 more)
Single nucleotide variant
(nonsense)
Developmental delay, impaired speech, and behavioral abnormalities
GPathogenic
SPTBN1
(L250R +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GPathogenic
SPTBN1
(G205D +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GPathogenic
SPTBN1
(C183* +1 more)
Single nucleotide variant
(nonsense)
Developmental delay, impaired speech, and behavioral abnormalities
GPathogenic
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