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Links from MedGen

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHAF2
(V136fs)
Deletion
(frameshift variant)
Paragangliomas 2
GLikely pathogenic
SDHAF2
(S4fs)
Deletion
(frameshift variant)
Paragangliomas 2
+1 more
GLikely pathogenic
SDHAF2
Single nucleotide variant
(intron variant)
Paragangliomas 2
GUncertain significance
SDHAF2
(Q101*)
Single nucleotide variant
(nonsense)
Paragangliomas 2
GLikely pathogenic
SDHAF2
(R58K)
Single nucleotide variant
(missense variant)
Paragangliomas 2
GUncertain significance
SDHAF2
(M13I)
Single nucleotide variant
(missense variant)
Paragangliomas 2
+1 more
GUncertain significance
SDHAF2
(A2E)
Single nucleotide variant
(missense variant)
Paragangliomas 2
GUncertain significance
SDHAF2
(P24L)
Single nucleotide variant
(missense variant)
Paragangliomas 2
GUncertain significance
SDHAF2
(G78R)
Single nucleotide variant
(missense variant)
Paragangliomas 2
Gnot provided
SDHAF2
(Y160fs)
Deletion
(frameshift variant)
Paragangliomas 2
GUncertain significance
SDHAF2
Single nucleotide variant
(synonymous variant)
Paragangliomas 2
+2 more
GUncertain significance
SDHAF2
(R67G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHAF2
(R77fs)
Microsatellite
(frameshift variant)
Paragangliomas 2
+1 more
GPathogenic/Likely pathogenic
SDHAF2
(S10fs)
Deletion
(frameshift variant)
Paragangliomas 2
+2 more
GConflicting classifications of pathogenicity
SDHAF2
(F89fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
SDHAF2
(R152G)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+2 more
GUncertain significance
SDHAF2
(K66E)
Single nucleotide variant
(missense variant)
Paragangliomas 2
+3 more
GUncertain significance
SDHAF2
(S11W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHAF2
(A128P)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+2 more
GUncertain significance
SDHAF2
(N146S)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+1 more
GUncertain significance
SDHAF2
(Q151E)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+2 more
GUncertain significance
SDHAF2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHAF2
(A15fs)
Microsatellite
(frameshift variant)
Paragangliomas 2
GLikely pathogenic
SDHAF2
(R32S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHAF2
(I118V)
Single nucleotide variant
(missense variant)
Paragangliomas 2
+2 more
GUncertain significance
SDHAF2
(Y105*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
SDHAF2
(M79V)
Single nucleotide variant
(missense variant)
Paragangliomas 2
+2 more
GUncertain significance
SDHAF2
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
SDHAF2
(A90V)
Single nucleotide variant
(missense variant)
SDHAF2-related disorder
+4 more
GBenign/Likely benign
SDHAF2
(E49del)
Deletion
(inframe_deletion)
not provided
+4 more
GUncertain significance
SDHAF2
(S10L)
Single nucleotide variant
(missense variant)
Paragangliomas 2
+1 more
GUncertain significance
SDHAF2
(M137K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHAF2
(S4C)
Single nucleotide variant
(missense variant)
Paragangliomas 2
+2 more
GUncertain significance
SDHAF2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHAF2
(T65I)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+3 more
GUncertain significance
SDHAF2
(N114S)
Single nucleotide variant
(missense variant)
Ovarian cancer
+3 more
GConflicting classifications of pathogenicity
SDHAF2
(I131L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHAF2
(N103fs)
Insertion
(frameshift variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SDHAF2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SDHAF2
(M47V)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+3 more
GUncertain significance
SDHAF2
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
+4 more
GLikely benign
SDHAF2
(R166H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SDHAF2
(S11L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GLikely benign
SDHAF2
(R107H)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+3 more
GConflicting classifications of pathogenicity
SDHAF2
(Y105N)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+2 more
GUncertain significance
SDHAF2
(T9A)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+2 more
GConflicting classifications of pathogenicity
SDHAF2
(E111K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
SDHAF2
(E159A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SDHAF2
Single nucleotide variant
(splice acceptor variant)
Hereditary pheochromocytoma-paraganglioma
+2 more
GConflicting classifications of pathogenicity
SDHAF2
(S74N)
Single nucleotide variant
(missense variant)
Paragangliomas 2
+2 more
GUncertain significance
SDHAF2
(Y119fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
SDHAF2
(W55*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
SDHAF2
(N110K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SDHAF2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SDHAF2
(K164E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
SDHAF2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
SDHAF2
(L80S)
Single nucleotide variant
(missense variant)
Paragangliomas 2
+3 more
GUncertain significance
SDHAF2
(Y120C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SDHAF2
(R69H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
SDHAF2
(R69C)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+3 more
GUncertain significance
SDHAF2
(H96Y)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+2 more
GUncertain significance
SDHAF2
(R18G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SDHAF2
(G78R)
Single nucleotide variant
(missense variant)
Paragangliomas 2
+3 more
GPathogenic
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