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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHA
(M1R)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
SDHA
(R5W)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+5 more
GUncertain significance
SDHA
(R5Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(R14W)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GUncertain significance
SDHA
Single nucleotide variant
(synonymous variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GLikely benign
SDHA
(R31*)
Single nucleotide variant
(nonsense)
Paragangliomas 5
+9 more
GPathogenic/Likely pathogenic
SDHA
(R31Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
SDHA
(S52T)
Single nucleotide variant
(missense variant)
Neurodegeneration with ataxia and late-onset optic atrophy
+4 more
GUncertain significance
SDHA
(S52F)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
SDHA
(V57L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1GG
+4 more
GConflicting classifications of pathogenicity
SDHA
(R75*)
Single nucleotide variant
(nonsense)
Paragangliomas 5
+5 more
GPathogenic/Likely pathogenic
SDHA
(M114V)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1GG
+4 more
GUncertain significance
SDHA
(H122R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1GG
+4 more
GUncertain significance
SDHA
(M142V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
SDHA
(A149T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(V150M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
SDHA
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GLikely pathogenic
SDHA
(Y156D +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+5 more
GUncertain significance
SDHA
(R114fs +1 more)
Deletion
(frameshift variant)
Paragangliomas 5
+3 more
GPathogenic/Likely pathogenic
SDHA
(H187Y +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+3 more
GUncertain significance
SDHA
(R195Q +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+4 more
GUncertain significance
SDHA
Single nucleotide variant
(synonymous variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GLikely benign
SDHA
(T203A +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+5 more
GUncertain significance
SDHA
(Y205H +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+5 more
GUncertain significance
SDHA
(E182fs +1 more)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic/Likely pathogenic
SDHA
(R232C +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
+5 more
GUncertain significance
SDHA
(I235T +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
SDHA
(I247V +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
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)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(T271S +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
+5 more
GUncertain significance
SDHA
(T281A +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
SDHA
(Y301C +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
SDHA
(I307V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GLikely benign
SDHA
(I319L +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
SDHA
(E324K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+4 more
GUncertain significance
SDHA
(A331T +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SDHA
(P332S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
SDHA
(V333L +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GUncertain significance
SDHA
(A334V +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+5 more
GUncertain significance
SDHA
(R352Q +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
+6 more
GConflicting classifications of pathogenicity
SDHA
(E360K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+4 more
GUncertain significance
SDHA
(P372R +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+5 more
GUncertain significance
SDHA
(S384A +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)
Mitochondrial complex II deficiency, nuclear type 1
+5 more
GUncertain significance
SDHA
(A442T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+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)
Paragangliomas 5
+7 more
GPathogenic/Likely pathogenic
SDHA
(A488T +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
SDHA
(N447D +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+3 more
GUncertain significance
SDHA
(R512* +1 more)
Single nucleotide variant
(nonsense)
Paragangliomas 5
+6 more
GPathogenic/Likely pathogenic
SDHA
(R512Q +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+6 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+4 more
GBenign/Likely benign
SDHA
(R527fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
SDHA
(Y543H +1 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1GG
+4 more
GUncertain significance
SDHA
(T551M +1 more)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 5
+4 more
GUncertain significance
SDHA
Single nucleotide variant
(splice donor variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GPathogenic/Likely pathogenic
SDHA
Single nucleotide variant
(splice donor variant +1 more)
Paragangliomas 5
+5 more
GPathogenic/Likely pathogenic
SDHA
Single nucleotide variant
(intron variant)
not provided
+8 more
GBenign/Likely benign
SDHA
(T565N +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GUncertain significance
SDHA
(R585W +1 more)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 5
+6 more
GConflicting classifications of pathogenicity
SDHA
(R600W +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
SDHA
(E640G +2 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+5 more
GConflicting classifications of pathogenicity
SDHA
(P643R +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GUncertain significance
SDHA
(N650S +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GUncertain significance
SDHA
(P658L +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
SDHA
Single nucleotide variant
(3 prime UTR variant)
Leigh syndrome
+5 more
GUncertain significance
SDHD
(P81L +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+9 more
GPathogenic/Likely pathogenic
SDHD
(T112I +1 more)
Single nucleotide variant
(synonymous variant +3 more)
Hereditary cancer-predisposing syndrome
+9 more
GUncertain significance
SDHD
(Y141H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Hereditary pheochromocytoma-paraganglioma
+8 more
GUncertain significance
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