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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHB
(W200C)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+5 more
GPathogenic/Likely pathogenic
SDHB
(I127S)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+5 more
GPathogenic/Likely pathogenic
SDHC
(H127R +7 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+4 more
GPathogenic/Likely pathogenic
SDHA
(R31*)
Single nucleotide variant
(nonsense)
Mitochondrial complex II deficiency, nuclear type 1
+9 more
GPathogenic/Likely pathogenic
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