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Links from MedGen

Items: 1 to 100 of 669

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(R315N +1 more)
Indel
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(S807L +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(T576S +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
(R204W +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Deletion
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(G380fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 2
GPathogenic
AP3B1
(P511S +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(L587* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 2
GPathogenic
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(D112G +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(A88P +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(K995E +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(T813S +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
(G733V +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Deletion
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(P595fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 2
GPathogenic
AP3B1
(Q421fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 2
GPathogenic
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(R863* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 2
GPathogenic
AP3B1
(T862N +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(Q61E +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(P843fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 2
GPathogenic
AP3B1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Deletion
(intron variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(Y251* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 2
GPathogenic
AP3B1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(P613fs +1 more)
Duplication
(frameshift variant)
Hermansky-Pudlak syndrome 2
GPathogenic
AP3B1
Microsatellite
(nonsense)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(V193fs +1 more)
Duplication
(frameshift variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(G832fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 2
GPathogenic/Likely pathogenic
AP3B1
(R292fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(E299* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(K918fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(D132fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 2
GPathogenic
AP3B1
(D717fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(E751fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(Q569* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(S354fs +1 more)
Microsatellite
(frameshift variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(E736fs +1 more)
Microsatellite
(frameshift variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(R122* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AP3B1
(D848F +1 more)
Indel
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome 2
GLikely pathogenic
AGGF1, AP3B1
+11 more
Deletion
Hermansky-Pudlak syndrome 2
GPathogenic
AP3B1
(V300L +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Insertion
(inframe_indel)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
(K752E +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 2
GLikely benign
AP3B1
(D530G +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 2
GUncertain significance
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GLikely benign
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