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Items: 1 to 100 of 249

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHA
(S2L)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+6 more
GConflicting classifications of pathogenicity
SDHA
(G3R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHA
(G3A)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
(V4I)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+3 more
GUncertain significance
SDHA
(V4F)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
(R5W)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+5 more
GUncertain significance
SDHA
(S8W)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+4 more
GUncertain significance
SDHA
(R15P)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
(A17S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
GUncertain significance
SDHA
(L18M)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
GUncertain significance
SDHA
Deletion
(intron variant)
Dilated cardiomyopathy 1GG
+2 more
GUncertain significance
SDHA
(T30I)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+3 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
(T36S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+3 more
GUncertain significance
SDHA
(T36A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+4 more
GUncertain significance
SDHA
(T36I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHA
(S50Y)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+3 more
GUncertain significance
SDHA
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1GG
+4 more
GConflicting classifications of pathogenicity
SDHA
(S52T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(S52F)
Single nucleotide variant
(missense variant)
Leigh syndrome
+7 more
GUncertain significance
SDHA
(P56T)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SDHA
(V67I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHA
(A69T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
SDHA
(L74S)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+2 more
GUncertain significance
SDHA
(R75*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
SDHA
(G79D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHA
(T87I)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GUncertain significance
SDHA
(C89Y)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
(T91I)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+2 more
GUncertain significance
SDHA
(T96I)
Single nucleotide variant
(missense variant)
B-lymphoblastic leukemia/lymphoma with hypodiploidy
+5 more
GUncertain significance
SDHA
(R97T)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
SDHA
(S98L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHA
(Q104fs)
Microsatellite
(frameshift variant)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GPathogenic/Likely pathogenic
SDHA
(I107V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
(Y124C)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
Deletion
(frameshift variant +1 more)
SDHA-related disorder
+5 more
GPathogenic/Likely pathogenic
SDHA
(D131N)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1GG
+5 more
GUncertain significance
SDHA
(W132C)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
(D135Y)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1GG
+1 more
GUncertain significance
SDHA
(Q136R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1GG
GUncertain significance
SDHA
(D137E)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1GG
+3 more
GUncertain significance
SDHA
(H140Y)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+2 more
GUncertain significance
SDHA
(T143M)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1GG
+4 more
GUncertain significance
SDHA
(A148T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
SDHA
(A149T)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 5
+4 more
GUncertain significance
SDHA
(V150M)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 5
+6 more
GUncertain significance
SDHA
(V151I)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1GG
+4 more
GUncertain significance
SDHA
(E152K)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 5
+4 more
GConflicting classifications of pathogenicity
SDHA
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
Indel
(intron variant)
Dilated cardiomyopathy 1GG
+2 more
GUncertain significance
SDHA
Deletion
(splice acceptor variant)
Paragangliomas 5
+4 more
GPathogenic
SDHA
(N155S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(P159L +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
(F160L +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+3 more
GConflicting classifications of pathogenicity
SDHA
(D117N +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHA
(Y121C +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+3 more
GUncertain significance
SDHA
(R171H +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+7 more
GUncertain significance
SDHA
(Q137E +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHA
(Q185* +1 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1GG
+4 more
GPathogenic
SDHA
(C143S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+2 more
GUncertain significance
SDHA
(R195W +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+6 more
GUncertain significance
SDHA
(R147P +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
GUncertain significance
SDHA
(S151T +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHA
(L200I +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHA
(T203A +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+5 more
GUncertain significance
SDHA
(T155I +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
(Y205H +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+5 more
GUncertain significance
SDHA
(S160F +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
GUncertain significance
SDHA
(R210* +1 more)
Single nucleotide variant
(nonsense)
Paragangliomas 5
+5 more
GPathogenic/Likely pathogenic
SDHA
(R210Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(T165A +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
(D175fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1GG
+4 more
GPathogenic/Likely pathogenic
SDHA
(D175fs +1 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1GG
GLikely pathogenic
SDHA
(L176F +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+3 more
GUncertain significance
SDHA
(E182fs +1 more)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic/Likely pathogenic
SDHA
(E230Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(I235T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+6 more
GUncertain significance
SDHA
(A236T +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+3 more
GUncertain significance
SDHA
(C190G +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+3 more
GUncertain significance
SDHA
(I191R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+3 more
GUncertain significance
SDHA
(I196fs +1 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1GG
GLikely pathogenic
SDHA
(G242R +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHA
(R198H +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+3 more
GUncertain significance
SDHA
(I247V +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+5 more
GConflicting classifications of pathogenicity
SDHA
(V206A +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
GUncertain significance
SDHA
Deletion
(splice donor variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GPathogenic/Likely pathogenic
SDHA
Single nucleotide variant
(splice acceptor variant)
Paragangliomas 5
+3 more
GLikely pathogenic
SDHA
(G260R +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GPathogenic/Likely pathogenic
SDHA
(R261C +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHA
(T214I +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHA
(H222L +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+4 more
GUncertain significance
SDHA
(T277K +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHA
(T277M +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+7 more
GConflicting classifications of pathogenicity
SDHA
(T233P +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+1 more
GUncertain significance
SDHA
(T281A +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+6 more
GUncertain significance
SDHA
(T281S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+2 more
GUncertain significance
SDHA
(L237P +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
GUncertain significance
SDHA
(L242P +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1GG
+4 more
GUncertain significance
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