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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHA
(R5W)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+5 more
GUncertain significance
SDHA
(R31*)
Single nucleotide variant
(nonsense)
Gastrointestinal stromal tumor
+9 more
GPathogenic/Likely pathogenic
SDHA
(R31Q)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+5 more
GConflicting classifications of pathogenicity
SDHA
(S52T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(R75*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
SDHA
(T203A +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+5 more
GUncertain significance
SDHA
(E182fs +1 more)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic/Likely pathogenic
SDHA
(I235T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+6 more
GUncertain significance
SDHA
Deletion
(splice donor variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GPathogenic/Likely pathogenic
SDHA
(H222L +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GUncertain significance
SDHA
(T281A +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+6 more
GUncertain significance
SDHA
(I307V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(E324K +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(A334V +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+5 more
GUncertain significance
SDHA
(E360K +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GUncertain significance
SDHA
(P372R +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
SDHA
(K349N +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GUncertain significance
SDHA
(V425M +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+5 more
GUncertain significance
SDHA
(A442T +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(P477S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
SDHA
Deletion
(splice donor variant)
Hereditary cancer-predisposing syndrome
+7 more
GPathogenic/Likely pathogenic
SDHA
(A488T +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+5 more
GUncertain significance
SDHA
(E491* +1 more)
Single nucleotide variant
(nonsense)
SDHA-related disorder
+6 more
GConflicting classifications of pathogenicity
SDHA
(R512* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial complex II deficiency, nuclear type 1
+6 more
GPathogenic/Likely pathogenic
SDHA
(R512Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
SDHA
(T551M +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
Single nucleotide variant
(splice donor variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+5 more
GPathogenic/Likely pathogenic
SDHA
(R585W +1 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1GG
+6 more
GConflicting classifications of pathogenicity
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