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Links from MedGen

Items: 1 to 100 of 2002

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHB
Deletion
Hereditary pheochromocytoma-paraganglioma
GPathogenic
SDHB
(G28fs)
Deletion
(frameshift variant)
Hereditary pheochromocytoma-paraganglioma
GLikely pathogenic
SDHA
(G496fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GLikely pathogenic
SDHD
(G19V +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHB
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHB
(K256M +1 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+1 more
GUncertain significance
SDHB
(Y255C +1 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHD
(P48T +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
(N120I)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
(T88A)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHD
(G45V)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHC
(A106P +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHC
(L108W +7 more)
Single nucleotide variant
(synonymous variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHAF2
Deletion
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
Single nucleotide variant
(3 prime UTR variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
+1 more
GUncertain significance
SDHAF2
(R69P)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
(D38H)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
(K141R +1 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
LOC126861339, SDHD
(A2E)
Single nucleotide variant
(missense variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHC
(K117E +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHD
(L38Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHC
(E55K +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHD
(H26P +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHAF2
(P51R)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHC
(V106F +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHD
(W118* +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
(L170F +1 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+1 more
GUncertain significance
SDHB
(V135A)
Single nucleotide variant
(missense variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
(D206E +1 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
Single nucleotide variant
(5 prime UTR variant)
Hereditary pheochromocytoma-paraganglioma
+1 more
GUncertain significance
SDHD
(L60I +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
(V136A)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
(F89C)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHAF2
(W55R)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
Single nucleotide variant
(5 prime UTR variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHD
(T100S +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHD
Insertion
(3 prime UTR variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
Deletion
(5 prime UTR variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHD
Single nucleotide variant
(3 prime UTR variant +2 more)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
LOC129929542, SDHB
(A21D)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
(L153V +1 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
MAX
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
MAX
(G25S +1 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
(R67I)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
MAX
(D110N +4 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
TMEM127
(E132K +1 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
TMEM127
Indel
(nonsense)
Hereditary pheochromocytoma-paraganglioma
GPathogenic
SDHAF2
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
MAX
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
TMEM127
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
LOC100506321, MAX
(W39*)
Single nucleotide variant
(synonymous variant +4 more)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
TMEM127
(V90fs +1 more)
Deletion
(frameshift variant)
Hereditary pheochromocytoma-paraganglioma
+1 more
GPathogenic
SDHAF2
(Y72F)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
LOC100506321, MAX
Single nucleotide variant
(intron variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
MAX
Single nucleotide variant
(3 prime UTR variant +3 more)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
TMEM127
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
LOC129934333, TMEM127
(R15G)
Single nucleotide variant
(missense variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
(V6G)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+1 more
GUncertain significance
SDHAF2
Single nucleotide variant
(splice donor variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
TMEM127
(G100V +1 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
(G37S)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
Single nucleotide variant
(stop lost)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
TMEM127
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
LOC129934333, TMEM127
(G5*)
Single nucleotide variant
(nonsense +1 more)
Hereditary pheochromocytoma-paraganglioma
GPathogenic
SDHAF2
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
MAX
Single nucleotide variant
(synonymous variant +3 more)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
TMEM127
(R127G +1 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
MAX
Microsatellite
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHB
(A43V)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+3 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+2 more
GLikely benign
SDHB
(P241L +1 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+3 more
GUncertain significance
SDHAF2
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHAF2
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
TMEM127
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
TMEM127
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
LOC129934333, TMEM127
(R14W)
Single nucleotide variant
(missense variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
MAX
Single nucleotide variant
(synonymous variant +3 more)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHAF2
(I84V)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
TMEM127
(L9R +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SDHAF2
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
TMEM127
(Y129C +1 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
Deletion
(splice donor variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
LOC100506321, MAX
(V43I +2 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
TMEM127
(L44R)
Single nucleotide variant
(missense variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHAF2
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
TMEM127
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
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