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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861339, SDHD
(G12S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
SDHD
(A18V)
Single nucleotide variant
(missense variant +2 more)
Paragangliomas 1
+8 more
GConflicting classifications of pathogenicity
SDHD
(H50R)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+7 more
GBenign/Likely benign
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+9 more
GBenign/Likely benign
SDHD
(P81L +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex II deficiency, nuclear type 1
+9 more
GPathogenic/Likely pathogenic
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Paragangliomas 1
+9 more
GBenign/Likely benign
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