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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RTTN
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
RTTN
Single nucleotide variant
(synonymous variant)
Microcephalic primordial dwarfism due to RTTN deficiency
+2 more
GBenign/Likely benign
RTTN
(R1630T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
RTTN
(F269L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
RTTN
Single nucleotide variant
(intron variant)
Microcephalic primordial dwarfism due to RTTN deficiency
+2 more
GBenign/Likely benign
RTTN
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
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