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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ, SDHC
Duplication
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth, Intermediate
+9 more
GBenign
SDHC
Deletion
(splice acceptor variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GLikely pathogenic
SDHC
(R15*)
Single nucleotide variant
(nonsense +3 more)
Gastrointestinal stromal tumor
+4 more
GPathogenic
SDHC
(R50C +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
SDHC
Single nucleotide variant
(synonymous variant +2 more)
not specified
+4 more
GBenign/Likely benign
SDHC
(H127R +7 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GPathogenic/Likely pathogenic
SDHC
(R133* +7 more)
Single nucleotide variant
(nonsense +2 more)
Paragangliomas 3
+5 more
GPathogenic
SDHC
Single nucleotide variant
(intron variant)
Paragangliomas 3
+4 more
GConflicting classifications of pathogenicity
SDHC
(M164L +10 more)
Single nucleotide variant
(missense variant)
Paragangliomas 3
+6 more
GConflicting classifications of pathogenicity
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