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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLOC1S3
(R29L)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 8
GUncertain significance
BLOC1S3
(Q150R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BLOC1S3
(R112L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BLOC1S3
(A169S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
BLOC1S3
(S129fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 8
GPathogenic
BLOC1S3
(L113fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 8
GPathogenic
BLOC1S3
Deletion
(inframe_deletion)
Hermansky-Pudlak syndrome 8
GPathogenic
BLOC1S3
(S44*)
Single nucleotide variant
(nonsense)
Hermansky-Pudlak syndrome 8
GPathogenic
BLOC1S3
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 8
+2 more
GBenign
BLOC1S3
(Q150fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 8
GPathogenic
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