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Links from MedGen

Items: 1 to 100 of 590

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHD
Single nucleotide variant
(3 prime UTR variant +2 more)
Carney-Stratakis syndrome
+3 more
GUncertain significance
SDHD
(M116T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(R77K)
Single nucleotide variant
(missense variant +3 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
Duplication
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(L25V +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(A126S +2 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(L117V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(D118I +2 more)
Indel
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(G79S +2 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(splice acceptor variant +1 more)
Pheochromocytoma
+3 more
GPathogenic
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(D53fs +1 more)
Duplication
(frameshift variant +2 more)
Pheochromocytoma
+3 more
GPathogenic
SDHD
(D60F +2 more)
Indel
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(D92N +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(A22P +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(3 prime UTR variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(C44*)
Single nucleotide variant
(nonsense +2 more)
Pheochromocytoma
+3 more
GPathogenic
SDHD
(K21T +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(S32A)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(G103D +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(L62F +2 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
Single nucleotide variant
(3 prime UTR variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Microsatellite
(intron variant)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(K60R +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(W57L +2 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Microsatellite
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
LOC126861339, SDHD
(G16V)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Paragangliomas with sensorineural hearing loss
+3 more
GLikely benign
LOC126861339, SDHD
(L4I)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas with sensorineural hearing loss
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Paragangliomas with sensorineural hearing loss
+3 more
GLikely benign
SDHD
(I49V)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(K122R +2 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(intron variant)
Paragangliomas with sensorineural hearing loss
+3 more
GLikely benign
SDHD
(G19D +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(P39S)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(A133G +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(S68T +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(A130V +2 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(P42fs +1 more)
Deletion
(frameshift variant +2 more)
Pheochromocytoma
+3 more
GPathogenic
LOC126861339, SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
LOC126861339, SDHD
(G15E)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(S52A)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC126861339, SDHD
(G16D)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(E69* +1 more)
Single nucleotide variant
(nonsense +2 more)
Pheochromocytoma
+3 more
GPathogenic
LOC126861339, SDHD
(M1T)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GPathogenic
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(P48H +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC126861339, SDHD
(W5fs)
Deletion
(frameshift variant +1 more)
Pheochromocytoma
+3 more
GPathogenic
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(M70L +2 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(Q78R)
Single nucleotide variant
(missense variant +3 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(W66R +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GLikely benign
SDHD
(G109D +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHD
(A124S +1 more)
Single nucleotide variant
(synonymous variant +3 more)
not provided
+4 more
GUncertain significance
SDHD
(N104H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Carney-Stratakis syndrome
+4 more
GUncertain significance
SDHD
(D53E +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHD
(E42G)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
SDHD
(A90G +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
NKAPD1, POU2AF1
+20 more
Deletion
Pheochromocytoma
+3 more
GPathogenic
SDHD
Duplication
Paragangliomas with sensorineural hearing loss
+3 more
GUncertain significance
ALG9, BTG4
+20 more
Deletion
Paragangliomas with sensorineural hearing loss
+3 more
GPathogenic
SDHD
(W27* +1 more)
Single nucleotide variant
(nonsense +2 more)
Pheochromocytoma
+4 more
GPathogenic
LOC126861339, SDHD
(G12R)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(F136L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(F34L)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(A44T +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(intron variant)
Carney-Stratakis syndrome
+3 more
GLikely benign
SDHD
(L21P)
Single nucleotide variant
(missense variant +2 more)
Carney-Stratakis syndrome
+3 more
GUncertain significance
SDHD
(Y84S +1 more)
Single nucleotide variant
(missense variant +2 more)
Paragangliomas with sensorineural hearing loss
+3 more
GUncertain significance
SDHD
(G103R +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
+4 more
GUncertain significance
SDHD
(F83S)
Single nucleotide variant
(missense variant +3 more)
Carney-Stratakis syndrome
+3 more
GLikely benign
SDHD
(F34L)
Single nucleotide variant
(missense variant +2 more)
Carney-Stratakis syndrome
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Cowden syndrome 3
+3 more
GLikely benign
SDHD
Single nucleotide variant
(splice acceptor variant +1 more)
Cowden syndrome 3
+3 more
GLikely pathogenic
SDHD
(H82R)
Single nucleotide variant
(missense variant +3 more)
Cowden syndrome 3
+3 more
GLikely benign
SDHD
(C88* +1 more)
Single nucleotide variant
(nonsense +2 more)
Carney-Stratakis syndrome
+3 more
GPathogenic
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