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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHAF2
(G78R)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+3 more
GPathogenic
LOC126861339, SDHD
(M1I)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
SDHD
(R38*)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic
SDHD
(P81L +1 more)
Single nucleotide variant
(missense variant +2 more)
Carney-Stratakis syndrome
+9 more
GPathogenic/Likely pathogenic
SDHD
(D92Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+6 more
GPathogenic/Likely pathogenic
SDHD
(L95P +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
GPathogenic
SDHD
(L139P +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GPathogenic
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