U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
RIPPLY2, RIPPLY2-CYB5R4
Single nucleotide variant
(3 prime UTR variant +2 more)
RIPPLY2-related condition
+1 more
GConflicting classifications of pathogenicity
LFNG
(F188L +2 more)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 3, autosomal recessive
GPathogenic
MESP2
(A66G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
LOC130057891, MESP2
(G81*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC130057891, MESP2
(K91E)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 2, autosomal recessive
Gnot provided
LOC130057891, MESP2
(E103*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC130057891, MESP2
(L125V)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 2, autosomal recessive
GPathogenic
LOC130057891, MESP2
(I129F)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 2, autosomal recessive
Gnot provided
MESP2
(G169fs)
Duplication
(frameshift variant)
Spondylocostal dysostosis 2, autosomal recessive
GPathogenic
MESP2
Microsatellite
Spondylocostal dysostosis 2, autosomal recessive
GBenign
MESP2
(S224P)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 2, autosomal recessive
GBenign
MESP2
(E234*)
Single nucleotide variant
(nonsense)
Spondylocostal dysostosis 2, autosomal recessive
GPathogenic
TBX6
Single nucleotide variant
(stop lost)
Spondylocostal dysostosis 5
GPathogenic
HES7
(R25W)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 4, autosomal recessive
GPathogenic
Format
Items per page
Sort by
Choose Destination