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Links from MedGen

Items: 1 to 100 of 2493

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADRA2B, ASTL
+4 more
Deletion
Pheochromocytoma
GUncertain significance
SDHB
(D48fs)
Duplication
(frameshift variant)
Pheochromocytoma
+2 more
GPathogenic
SDHB
(R91T)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
Single nucleotide variant
(3 prime UTR variant +2 more)
Carney-Stratakis syndrome
+3 more
GUncertain significance
SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 more
GLikely benign
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
SDHB
(A52S)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
(L25V +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
(I248N +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 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
SDHB
(K78M)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(A43V)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 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
SDHB
(M58I)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(W200C +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHD
(G79S +2 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(K167R +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
Single nucleotide variant
(splice acceptor variant +1 more)
Pheochromocytoma
+3 more
GPathogenic
SDHB
(A244fs +1 more)
Deletion
(frameshift variant)
Pheochromocytoma
+2 more
GPathogenic
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(P129T)
Single nucleotide variant
(intron variant +1 more)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(P49fs)
Deletion
(frameshift variant)
Pheochromocytoma
+2 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
SDHB
(D224N +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHD
(D60F +2 more)
Indel
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
(R233fs +1 more)
Deletion
(frameshift variant)
Pheochromocytoma
+2 more
GPathogenic
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
Single nucleotide variant
(splice acceptor variant)
Pheochromocytoma
+2 more
GPathogenic
SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(P49Q)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 more
GLikely benign
SDHD
(D92N +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC129929542, SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(G96R)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
(A22P +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
(K137N)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
Single nucleotide variant
(3 prime UTR variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHB
(P236R +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
(C44*)
Single nucleotide variant
(nonsense +2 more)
Pheochromocytoma
+3 more
GPathogenic
SDHB
(I79T)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(K160E +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(R94I)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(K151R +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
Insertion
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
Deletion
(splice acceptor variant)
Pheochromocytoma
+2 more
GLikely pathogenic
SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 more
GLikely benign
SDHD
(K21T +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
(E95Q)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHB
(R91S)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
(S32A)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
LOC129929541, SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(M213R +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(I263T +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
LOC129929542, SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(F238V +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(E158K +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 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
SDHB
(R27P)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
(L62F +2 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(C168R +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHB
(E257V +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(Y152fs +1 more)
Duplication
(frameshift variant)
Pheochromocytoma
+2 more
GPathogenic
SDHD
Single nucleotide variant
(3 prime UTR variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
(S222P +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 more
GLikely benign
SDHD
Microsatellite
(intron variant)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHD
(K60R +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
(G166R +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(W182G +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 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
SDHB
Microsatellite
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHD
Microsatellite
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
LOC129929542, SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(E257A +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
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
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