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Links from MedGen

Items: 1 to 100 of 160

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLOC1S6
Deletion
Hermansky-Pudlak syndrome 9
GPathogenic
BLOC1S6
Deletion
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Duplication
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
(K68fs +1 more)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 9
GPathogenic
BLOC1S6
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
(S8fs)
Duplication
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 9
GPathogenic
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
(L82* +1 more)
Single nucleotide variant
(nonsense +2 more)
Hermansky-Pudlak syndrome 9
GPathogenic
BLOC1S6
(A12fs)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 9
GPathogenic
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 9
GLikely pathogenic
BLOC1S6
Single nucleotide variant
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
(K120fs +1 more)
Deletion
(frameshift variant +2 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(L104* +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hermansky-Pudlak syndrome 9
GPathogenic
BLOC1S6
Duplication
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
(A58fs +1 more)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 9
GPathogenic
BLOC1S6
(S30fs +1 more)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 9
GPathogenic
BLOC1S6
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome 9
GLikely pathogenic
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Deletion
(splice donor variant)
Hermansky-Pudlak syndrome 9
GLikely pathogenic
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Duplication
(intron variant)
Hermansky-Pudlak syndrome 9
GBenign
BLOC1S6
(G11fs)
Indel
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely pathogenic
BLOC1S6
Duplication
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 9
GLikely pathogenic
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Deletion
(intron variant)
Hermansky-Pudlak syndrome 9
GBenign
BLOC1S6
(A53T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(K128Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
(E156V +1 more)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
(G28R)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(G23E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
BLOC1S6
Single nucleotide variant
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
(S30fs +1 more)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 9
GPathogenic
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
(E88fs +1 more)
Duplication
(frameshift variant +2 more)
Hermansky-Pudlak syndrome 9
GPathogenic
BLOC1S6
Single nucleotide variant
(splice donor variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely pathogenic
BLOC1S6
(I87V +2 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(S30R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(P168L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(G37R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(P34R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(non-coding transcript variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Duplication
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 9
GLikely benign
BLOC1S6
(N122I +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(G5V)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(S97P +1 more)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(K125Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(R159Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome 9
+1 more
GUncertain significance
BLOC1S6
Insertion
(intron variant)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(Y111fs +2 more)
Deletion
(frameshift variant +1 more)
BLOC1S6-related disorder
+2 more
GConflicting classifications of pathogenicity
BLOC1S6
(A48S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
BLOC1S6
(S90L +1 more)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome 9
GUncertain significance
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