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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ, SDHC
Single nucleotide variant
Carney-Stratakis syndrome
+11 more
GBenign
SDHC
(A3S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SDHC
(V28F +1 more)
Single nucleotide variant
(missense variant +3 more)
Paragangliomas 3
+3 more
GUncertain significance
SDHC
(N43S +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
+4 more
GUncertain significance
SDHC
(R133* +7 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+5 more
GBenign/Likely benign
SDHC
(P146T +10 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GUncertain significance
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