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Links from MedGen

Items: 1 to 100 of 169

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPS4
(A552G +2 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
(D273fs +2 more)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(R9G)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
Single nucleotide variant
(synonymous variant +2 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
Deletion
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
Microsatellite
(splice donor variant)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(Q277* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(E249fs +2 more)
Microsatellite
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(Q620* +2 more)
Single nucleotide variant
(nonsense +2 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(E133fs +1 more)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(E439* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome 4
+1 more
GPathogenic/Likely pathogenic
HPS4
Single nucleotide variant
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(Q637* +2 more)
Single nucleotide variant
(nonsense +2 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome 4
+1 more
GLikely pathogenic
HPS4
(Q359* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(H381fs +2 more)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(N144fs +1 more)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(R73* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
Deletion
(nonsense +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(K101* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(L465* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(N112* +1 more)
Duplication
(nonsense +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(E139* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(splice acceptor variant)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(L585fs +2 more)
Deletion
(non-coding transcript variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HPS4
(Y114* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS4
(R185H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 4
+1 more
GUncertain significance
HPS4
(Q511* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS4
(N11fs +1 more)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 4
+1 more
GPathogenic/Likely pathogenic
HPS4
(L86P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 4
GLikely pathogenic
HPS4
(P680fs +3 more)
Deletion
(frameshift variant +2 more)
Hermansky-Pudlak syndrome 4
GPathogenic/Likely pathogenic
HPS4
(G699S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
HPS4
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 4
+2 more
GConflicting classifications of pathogenicity
HPS4
(L363fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HPS4
(G380fs +2 more)
Deletion
(frameshift variant +1 more)
Hermansky-Pudlak syndrome 4
GPathogenic
HPS4
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 4
+1 more
GPathogenic/Likely pathogenic
HPS4
(A652fs +3 more)
Duplication
(frameshift variant +2 more)
Hermansky-Pudlak syndrome 4
+2 more
GConflicting classifications of pathogenicity
HPS4
(I146T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
HPS4
Single nucleotide variant
(synonymous variant +1 more)
Hermansky-Pudlak syndrome 4
+1 more
GConflicting classifications of pathogenicity
HPS4
(G198E +1 more)
Single nucleotide variant
(missense variant +1 more)
HPS4-related disorder
+2 more
GConflicting classifications of pathogenicity
HPS4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS4
Single nucleotide variant
(synonymous variant +1 more)
HPS4-related disorder
+2 more
GConflicting classifications of pathogenicity
HPS4
(V628I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GLikely benign
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GBenign
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GBenign
HPS4
Single nucleotide variant
(5 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
(V208I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HPS4
(T222M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HPS4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS4
(M667I +2 more)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome 4
+1 more
GConflicting classifications of pathogenicity
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
(P560L +2 more)
Single nucleotide variant
(missense variant +1 more)
HPS4-related disorder
+3 more
GConflicting classifications of pathogenicity
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(non-coding transcript variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GBenign
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
(S13L)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
(S38Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(intron variant)
HPS4-related disorder
+2 more
GConflicting classifications of pathogenicity
HPS4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS4
(V238I +2 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
(D296E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
HPS4
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(3 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
HPS4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS4
(R466C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
HPS4
Single nucleotide variant
(intron variant)
Hermansky-Pudlak syndrome 4
+1 more
GConflicting classifications of pathogenicity
HPS4
(H230R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 4
+2 more
GConflicting classifications of pathogenicity
HPS4
(Q45* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HPS4
(R180C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hermansky-Pudlak syndrome 4
+1 more
GUncertain significance
HPS4, LOC130067147
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 4
GLikely benign
HPS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
HPS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hermansky-Pudlak syndrome 4
GLikely benign
HPS4
Single nucleotide variant
(5 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GBenign
HPS4
Single nucleotide variant
(5 prime UTR variant +2 more)
Hermansky-Pudlak syndrome 4
GUncertain significance
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