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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIPPLY2, RIPPLY2-CYB5R4
(A14T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Spondylocostal dysostosis 6, autosomal recessive
+1 more
GUncertain significance
RIPPLY2, RIPPLY2-CYB5R4
Single nucleotide variant
(non-coding transcript variant +1 more)
Spondylocostal dysostosis 6, autosomal recessive
+1 more
GBenign
RIPPLY2, RIPPLY2-CYB5R4
Single nucleotide variant
(synonymous variant)
Spondylocostal dysostosis 6, autosomal recessive
+1 more
GBenign
RIPPLY2, RIPPLY2-CYB5R4
Single nucleotide variant
(3 prime UTR variant +2 more)
RIPPLY2-related condition
+1 more
GConflicting classifications of pathogenicity
RIPPLY2, RIPPLY2-CYB5R4
(R80* +2 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
Spondylocostal dysostosis 6, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
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