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Links from MedGen

Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHD
(Q84E +2 more)
Single nucleotide variant
(missense variant +3 more)
Paragangliomas 1
GPathogenic
SDHD
(I40fs)
Deletion
(non-coding transcript variant +2 more)
Paragangliomas 1
GLikely pathogenic
SDHD
(Y105C +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Pheochromocytoma
+6 more
GUncertain significance
SDHD
(W43*)
Single nucleotide variant
(nonsense +2 more)
Paragangliomas 1
GLikely pathogenic
SDHD
(F103fs +1 more)
Deletion
(3 prime UTR variant +2 more)
Paragangliomas 1
GLikely pathogenic
SDHD
(S34fs +1 more)
Duplication
(frameshift variant +2 more)
Paragangliomas 1
GLikely pathogenic
LOC126861339, SDHD
(R17*)
Single nucleotide variant
(nonsense +1 more)
Paragangliomas 1
+6 more
GPathogenic
SDHD
Deletion
Pheochromocytoma
+3 more
GPathogenic
PIH1D2, POU2AF1
+20 more
Duplication
Cowden syndrome 3
+3 more
GUncertain significance
SDHD
Duplication
Pheochromocytoma
+4 more
GUncertain significance
SDHD
Duplication
Pheochromocytoma
+4 more
GUncertain significance
SDHD
Deletion
Pheochromocytoma
+4 more
GPathogenic
SDHD
Deletion
Pheochromocytoma
+3 more
GPathogenic
SDHD
Duplication
Paragangliomas with sensorineural hearing loss
+4 more
GUncertain significance
BTG4, C11orf52
+20 more
Deletion
Carney-Stratakis syndrome
+3 more
GPathogenic
SDHD
(S20P +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 2 deficiency, nuclear type 3
+6 more
GUncertain significance
SDHD
(H102R +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
SDHD
(G39R +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
LOC126861339, SDHD
(W5fs)
Deletion
(frameshift variant +1 more)
Carney-Stratakis syndrome
+5 more
GPathogenic
SDHD
Deletion
Paragangliomas 1
GPathogenic
SDHD
Deletion
Paragangliomas 1
+3 more
GPathogenic
LOC126861339, SDHD
Deletion
Carney-Stratakis syndrome
+4 more
GPathogenic
LOC126861339, SDHD
Duplication
Paragangliomas 1
+3 more
GUncertain significance
SDHD
Deletion
Paragangliomas 1
+3 more
GPathogenic
SDHD
Indel
(splice acceptor variant +1 more)
Paragangliomas 1
+3 more
GLikely pathogenic
SDHD
(Y141H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+8 more
GUncertain significance
SDHD
(D74* +2 more)
Duplication
(nonsense +3 more)
Cowden syndrome 3
+4 more
GPathogenic
LOC126861339, SDHD
(L7fs)
Deletion
(frameshift variant +1 more)
Paragangliomas 1
+4 more
GPathogenic/Likely pathogenic
SDHD
Deletion
Pheochromocytoma
+3 more
GPathogenic
SDHD
(G106V +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
SDHD
Single nucleotide variant
(splice acceptor variant)
Carney-Stratakis syndrome
+4 more
GLikely pathogenic
SDHD
Single nucleotide variant
(intron variant)
Cowden syndrome 3
+8 more
GBenign/Likely benign
SDHD
Single nucleotide variant
(intron variant)
Paragangliomas 3
+5 more
GBenign/Likely benign
SDHD
(T61fs +1 more)
Deletion
(frameshift variant +2 more)
Paragangliomas 1
GLikely pathogenic
SDHD
(V111I +1 more)
Single nucleotide variant
(synonymous variant +3 more)
not provided
+7 more
GConflicting classifications of pathogenicity
SDHD
(H50Y)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+7 more
GUncertain significance
SDHD
(S132fs +2 more)
Deletion
(frameshift variant +2 more)
Pheochromocytoma
+5 more
GPathogenic/Likely pathogenic
SDHD
(L85F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+9 more
GConflicting classifications of pathogenicity
SDHD
(A18V)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
+8 more
GConflicting classifications of pathogenicity
SDHA
(R585Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 1
+5 more
GConflicting classifications of pathogenicity
SDHD
Duplication
(no sequence alteration +2 more)
Carney-Stratakis syndrome
+3 more
GUncertain significance
SDHD
(T112I +1 more)
Single nucleotide variant
(synonymous variant +3 more)
Hereditary pheochromocytoma-paraganglioma
+10 more
GUncertain significance
SDHD
(P81fs +1 more)
Deletion
(frameshift variant +2 more)
Carney-Stratakis syndrome
+5 more
GPathogenic
SDHD
(G58fs +1 more)
Deletion
(frameshift variant +2 more)
Carney-Stratakis syndrome
+5 more
GPathogenic
LOC126861339, SDHD
(L4fs)
Duplication
(frameshift variant +1 more)
Carney-Stratakis syndrome
+4 more
GPathogenic
LOC126861339, SDHD
Deletion
Pheochromocytoma
+1 more
GPathogenic
SDHD
(I40L)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
+6 more
GConflicting classifications of pathogenicity
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Paragangliomas 1
+9 more
GBenign/Likely benign
SDHD
(F34C)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+7 more
GConflicting classifications of pathogenicity
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Pheochromocytoma
+9 more
GBenign/Likely benign
LOC126861339, SDHD
(W5*)
Single nucleotide variant
(nonsense +1 more)
Cowden syndrome 3
+4 more
GPathogenic
LOC126861339, SDHD
(C11*)
Single nucleotide variant
(nonsense +1 more)
Cowden syndrome 3
+5 more
GPathogenic
SDHD
Deletion
Paragangliomas 1
GPathogenic
SDHD
(W43*)
Single nucleotide variant
(nonsense +2 more)
Cowden syndrome 3
+6 more
GPathogenic
SDHD
(D113fs +2 more)
Deletion
(frameshift variant +2 more)
Cowden syndrome 3
+7 more
GPathogenic
LOC126861339, SDHD
(M1V)
Single nucleotide variant
(missense variant +2 more)
Cowden syndrome 3
+3 more
GPathogenic
SDHD
(M116fs +1 more)
Deletion
(3 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SDHD
(H50R)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+8 more
GBenign/Likely benign
SDHD
(A33fs)
Microsatellite
(frameshift variant +2 more)
Cowden syndrome 3
+5 more
GPathogenic
SDHD
(L139P +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Paragangliomas 1
+1 more
GPathogenic
LOC126861339, SDHD
(M1I)
Single nucleotide variant
(missense variant +2 more)
Cowden syndrome 3
+5 more
GPathogenic
SDHD
(Y93del +1 more)
Deletion
(inframe_deletion +2 more)
Hereditary cancer-predisposing syndrome
GPathogenic
SDHD
(L64fs +1 more)
Microsatellite
(frameshift variant +2 more)
Cowden syndrome 3
+5 more
GPathogenic
SDHD
(R22*)
Single nucleotide variant
(nonsense +2 more)
Pheochromocytoma
+6 more
GPathogenic
SDHD
(G148fs +1 more)
Deletion
(3 prime UTR variant +2 more)
Paragangliomas 1
GLikely pathogenic
SDHD
(S32*)
Single nucleotide variant
(nonsense +2 more)
Cowden syndrome 3
+5 more
GPathogenic
SDHD
(Y114C +2 more)
Single nucleotide variant
(missense variant +2 more)
Cowden syndrome 3
+6 more
GPathogenic
SDHD
(D113fs +2 more)
Insertion
(frameshift variant +2 more)
Paragangliomas 1
GPathogenic
SDHD
(H102L +1 more)
Single nucleotide variant
(missense variant +2 more)
Cowden syndrome 3
+4 more
GPathogenic
SDHD
(D92Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Cowden syndrome 3
+6 more
GPathogenic/Likely pathogenic
SDHD
(P81L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+9 more
GPathogenic/Likely pathogenic
LOC126861339, SDHD
(G12S)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 3
+8 more
GConflicting classifications of pathogenicity
LOC126861339, SDHD
Single nucleotide variant
(splice donor variant)
Pheochromocytoma
GLikely pathogenic
SDHD
(R38*)
Single nucleotide variant
(nonsense +2 more)
Cowden syndrome 3
+7 more
GPathogenic
SDHD
(Q36*)
Single nucleotide variant
(nonsense +2 more)
Carney-Stratakis syndrome
+5 more
GPathogenic
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