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Links from MedGen

Items: 1 to 100 of 251

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPS3
(C228* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(V220fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(Y757* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GPathogenic
HPS3
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
Deletion
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(N167fs +1 more)
Duplication
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(K773fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Q203* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(E168*)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(P626fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Y335* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(D395fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(E547* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Q125fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(E563* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(R231*)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic/Likely pathogenic
HPS3
(G187fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(F443fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Q125* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GPathogenic
HPS3
(Y69*)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(N167fs)
Duplication
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(I109fs)
Duplication
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(C252fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Q209* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(S719fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Q124fs)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(E236*)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(L266fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GPathogenic
HPS3
(Q227fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome 3
+1 more
GLikely pathogenic
CP, HPS3
(Q649* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(D74fs)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(A251fs +1 more)
Insertion
(frameshift variant)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic/Likely pathogenic
HPS3
(H567fs +1 more)
Duplication
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(R220fs)
Duplication
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Q554* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(F598fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3, CP
(L671* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
Deletion
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(Y792* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(W771* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
Duplication
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(S389fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(R30fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Y197fs)
Duplication
(intron variant +1 more)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic/Likely pathogenic
HPS3
(Q49*)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(W643* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(S137fs +1 more)
Duplication
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Q210* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(S244* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(D246fs +1 more)
Duplication
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Q53fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(E765* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(T1004I +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 3
GUncertain significance
HPS3
(S111C +1 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 3
GUncertain significance
HPS3
(Y353fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic/Likely pathogenic
CP, HPS3
(P751R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS3
(R30fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic/Likely pathogenic
HPS3
(E50*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
HPS3
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
HPS3
(K544fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic
CP, HPS3
Deletion
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic/Likely pathogenic
HPS3
(N83fs)
Duplication
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic
HPS3
(R107*)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic
HPS3
(Q3*)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
+1 more
GPathogenic
CP, HPS3
(D683fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(K119fs)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(L152fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(S100fs +1 more)
Indel
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(G440fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(K264fs +1 more)
Insertion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(V629fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(S100fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(L172fs)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(K146* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(H219fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(E378* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(I109fs)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(E110* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(H677fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(Y673fs +1 more)
Insertion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(E531fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(C260* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(E169fs)
Indel
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(F598fs +1 more)
Indel
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(M201fs)
Insertion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Q572* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Q157fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(L207fs)
Insertion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(N96fs)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(C666fs +1 more)
Indel
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(Y397fs +1 more)
Indel
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(K515* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(C141*)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(L105* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(R529* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(P154fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
HPS3
(K120fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
CP, HPS3
(E748* +1 more)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 3
GLikely pathogenic
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