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Links from MedGen

Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPS6
(Q293*)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 6
GLikely pathogenic
HPS6
(E425V)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6
(P423S)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6
(R414Q)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6
(A597fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 6
GLikely pathogenic
HPS6
(S379*)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 6
GLikely pathogenic
HPS6
(Q505*)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 6
+1 more
GPathogenic/Likely pathogenic
HPS6
(Y410fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HPS6
(L754V)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
+1 more
GUncertain significance
HPS6
(G124W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS6, LOC130004578
(R3C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HPS6
(R607*)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 6
+1 more
GPathogenic/Likely pathogenic
HPS6
(F159fs)
Duplication
(frameshift variant)
not provided
GPathogenic
HPS6
(V473M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS6
(R682C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS6
(L356fs)
Insertion
(frameshift variant)
Hermansky-Pudlak syndrome 6
Gnot provided
HPS6
(Q471*)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 6
GPathogenic
HPS6
(E344*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
HPS6, LOC130004578
(W71fs)
Duplication
(frameshift variant)
Hermansky-Pudlak syndrome 6
GLikely pathogenic
HPS6
(M454V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HPS6
(R578*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HPS6
(W112*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HPS6
(R667*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
HPS6
(R651W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS6
(L604V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS6
(E585D)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
+2 more
GUncertain significance
HPS6
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6
(G560V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS6, LOC130004578
(V93L)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
+1 more
GConflicting classifications of pathogenicity
HPS6, LOC130004578
Single nucleotide variant
(5 prime UTR variant)
HPS6-related disorder
+2 more
GConflicting classifications of pathogenicity
HPS6
(D477A)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS6
(S449C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HPS6
(G418V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS6
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HPS6
(L775V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS6
(R376H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS6
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 6
+1 more
GConflicting classifications of pathogenicity
HPS6
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6
(P752T)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS6
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6
(R682H)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
+1 more
GUncertain significance
HPS6
(E677K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
HPS6
(V212M)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
+1 more
GUncertain significance
HPS6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS6, LOC130004578
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HPS6
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 6
+1 more
GBenign/Likely benign
HPS6
(P231R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
HPS6, LOC130004578
(L7fs)
Microsatellite
(frameshift variant)
Hermansky-Pudlak syndrome 6
GLikely pathogenic
HPS6
(H354Y)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
HPS6
(C571*)
Insertion
(nonsense)
Hermansky-Pudlak syndrome
+2 more
GPathogenic/Likely pathogenic
HPS6
(F565V)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
GLikely pathogenic
HPS6, LOC130004578
(P85L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
HPS6
(T181A)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
HPS6
(Q680*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HPS6
(P633fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 6
GPathogenic
HPS6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS6
(G744V)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
+2 more
GUncertain significance
HPS6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS6
(R536G)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
+2 more
GUncertain significance
HPS6
(D401N)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6
(V394A)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6
(V347I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS6
(P243T)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
+1 more
GUncertain significance
HPS6
(A133V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
HPS6
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6, LOC130004578
(A65G)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6, LOC130004578
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 6
GUncertain significance
HPS6, LOC130004578
(P38A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HPS6, LOC130004578
Single nucleotide variant
(synonymous variant)
HPS6-related disorder
+3 more
GBenign/Likely benign
HPS6
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
HPS6
(R113W)
Single nucleotide variant
(missense variant)
HPS6-related disorder
+3 more
GConflicting classifications of pathogenicity
HPS6
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
HPS6
(G211A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
HPS6
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
HPS6
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
HPS6
(L233R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
HPS6, LOC130004578
(D80fs)
Duplication
(frameshift variant)
Hermansky-Pudlak syndrome
+2 more
GConflicting classifications of pathogenicity
HPS6
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
HPS6, LOC130004578
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
Deletion
Hermansky-Pudlak syndrome 6
GPathogenic
HPS6
(Q412*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HPS6, LOC130004578
(Q75*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HPS6
(T272I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HPS6
(Q305*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HPS6
(L622fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HPS6
(L356fs)
Duplication
(frameshift variant)
Hermansky-Pudlak syndrome 6
GPathogenic
HPS6
(L572fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 6
GPathogenic
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