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Links from MedGen

Items: 1 to 100 of 348

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPS1
(L344P +6 more)
Indel
(missense variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS5
(E247fs +1 more)
Duplication
(frameshift variant)
Hermansky-Pudlak syndrome
+1 more
GPathogenic
HPS5
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
HPS4
(H496fs +2 more)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome
GLikely pathogenic
CP, HPS3
(E765fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
AP3D1
(V715fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS1
Microsatellite
(genic downstream transcript variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS6
(V644fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS6
(G123fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS1
(L506fs +6 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
HPS6
(R463*)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome
+1 more
GPathogenic/Likely pathogenic
HPS4
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
AP3B1
(I548fs +1 more)
Duplication
(frameshift variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
AP3B1
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS6
(E677fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS5
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
CP, HPS3
Deletion
Hermansky-Pudlak syndrome
GLikely pathogenic
DTNBP1
(M115fs +3 more)
Microsatellite
(frameshift variant +1 more)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS6
(G519fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS4
(S507* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS6, LOC130004578
(S77fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS1
(L668P +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HPS6, LOC130004578
(L22fs)
Microsatellite
(frameshift variant)
HPS6-related disorder
+2 more
GPathogenic
BLOC1S6
(Y111fs +2 more)
Deletion
(frameshift variant +1 more)
BLOC1S6-related disorder
+2 more
GConflicting classifications of pathogenicity
HPS6
(R245*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
HPS1
(Q181* +6 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 1
+1 more
GPathogenic/Likely pathogenic
HPS1
(G272V +6 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome
GUncertain significance
HPS1
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome 1
+2 more
GPathogenic/Likely pathogenic
HPS1
(R106G)
Single nucleotide variant
(intron variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS1
(Y322C +6 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome
GUncertain significance
HPS1
(Q154* +5 more)
Single nucleotide variant
(nonsense +2 more)
Hermansky-Pudlak syndrome
GPathogenic
HPS1
(G165fs +5 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
HPS1
(R115* +6 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
HPS1
(S303fs +6 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
HPS1
(Q179* +6 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome
GPathogenic
HPS1
(E342K +6 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome
GUncertain significance
HPS1
(R225C +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HPS4
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
HPS1
(G160R +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GUncertain significance
CP, HPS3
Duplication
(intron variant)
not provided
GBenign
HPS1
(A146V +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
HPS1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 1
+1 more
GLikely benign
HPS1
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome 1
+2 more
GPathogenic/Likely pathogenic
HPS3, CP
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 3
+1 more
GLikely pathogenic
CP, HPS3
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HPS1
(A265V +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS1
(P136L +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
HPS3
(S508L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HPS3
(S137L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HPS1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
HPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HPS1
(L264P +6 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome
+1 more
GUncertain significance
HPS1
(M213I +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HPS1
(S158G +5 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 1
+2 more
GUncertain significance
HPS3
(S102Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HPS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
HPS1
(A11T)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 1
+1 more
GUncertain significance
HPS1
(L90V)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome
GUncertain significance
CP, HPS3
(T823A +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 3
GUncertain significance
CP, HPS3
(M813V +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome
GUncertain significance
CP, HPS3
(H677Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CP, HPS3
(P655R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome
GUncertain significance
CP, HPS3
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
HPS3
(M486V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HPS3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HPS3
Single nucleotide variant
(intron variant)
HPS3-related disorder
+1 more
GLikely benign
HPS3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HPS3
(R234Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HPS3
(N229K)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome
GUncertain significance
HPS1
(G103W)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome
GUncertain significance
HPS1
(R107Q)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome 1
+1 more
GUncertain significance
HPS1
(E205G +1 more)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome
GUncertain significance
HPS1
(F202Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
HPS1
(A208V)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
HPS1
(P234L)
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
HPS1
(G161R +2 more)
Single nucleotide variant
(missense variant +3 more)
Hermansky-Pudlak syndrome
GUncertain significance
HPS1
(A236V +1 more)
Single nucleotide variant
(synonymous variant +2 more)
HPS1-related disorder
GUncertain significance
HPS1
(D153G +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HPS1
(P168A +5 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 1
+2 more
GUncertain significance
HPS1
(M169V +6 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome
GUncertain significance
HPS1
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome
GUncertain significance
HPS1
(R105C +6 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome
GUncertain significance
HPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HPS1
(R159Q +6 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 1
+2 more
GUncertain significance
HPS1
(R225H +6 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome
GUncertain significance
HPS1
(A232V +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HPS1
(G246A +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HPS1
(T275M +6 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 1
+1 more
GUncertain significance
HPS1
(M295V +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HPS1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 1
+1 more
GLikely benign
HPS1
(R366C +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS1
(R372H +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CP, HPS3
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic
HPS1
(Y558fs +6 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 1
+2 more
GPathogenic/Likely pathogenic
HPS3
(Q737fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic
HPS1
(G245fs +3 more)
Deletion
(frameshift variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
HPS1
(R173* +1 more)
Single nucleotide variant
(nonsense +2 more)
Hermansky-Pudlak syndrome
+2 more
GPathogenic
CP, HPS3
(R822* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic
HPS3
(S75N +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 3
+1 more
GConflicting classifications of pathogenicity
HPS3
(I232V)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 3
+1 more
GUncertain significance
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