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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHA
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GConflicting classifications of pathogenicity
SDHA
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
SDHA
(R31*)
Single nucleotide variant
(nonsense)
Paragangliomas 5
+9 more
GPathogenic/Likely pathogenic
SDHA
(R31Q)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
SDHA
(S52F)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
SDHA
(A69T)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
SDHA
(G136E +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SDHA
(A138fs +1 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
SDHA
(G260R +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
SDHA
(G262E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SDHA
(A331T +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SDHA
(P311fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
SDHA
(V393L +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+3 more
GConflicting classifications of pathogenicity
SDHA
(R403G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SDHA
(D596G +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
SDHA
(A660G +2 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+6 more
GConflicting classifications of pathogenicity
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