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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTBN1
(R276* +1 more)
Single nucleotide variant
(nonsense)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely pathogenic
SPTBN1
(L811P +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(H1297Y +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
(R1890H +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(F1903L +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
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