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Links from Gene

Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(T33A +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(P9L)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(E176Q +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(V52fs)
Deletion
(non-coding transcript variant +2 more)
Hermansky-Pudlak syndrome 11
GLikely pathogenic
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(A118V +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(G17D)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(P9S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(H84R +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(R68C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(M1R)
Single nucleotide variant
(non-coding transcript variant +3 more)
Hermansky-Pudlak syndrome 11
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(M1V)
Single nucleotide variant
(missense variant +2 more)
BLOC1S5-related disorder
GLikely benign
ADTRP, BLOC1S5
+73 more
Copy number gain
not provided
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
BLOC1S5, BLOC1S5-TXNDC5
+1 more
Single nucleotide variant
(splice acceptor variant)
BLOC1S5-related disorder
GLikely pathogenic
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(T57I)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(R95G +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(I36M)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(S20G)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GLikely benign
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(E7*)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hermansky-Pudlak syndrome 11
GLikely pathogenic
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(E13K +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(R81S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(R58H)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(E104G +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GLikely benign
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(R35W +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(K3N +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
ADTRP, ATXN1
+89 more
Copy number gain
See cases
GPathogenic
BLOC1S5
Deletion
Hermansky-Pudlak syndrome 11
GPathogenic
BLOC1S5, BMP6
+7 more
Copy number gain
not provided
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(Q72fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome 11
+1 more
GPathogenic
BLOC1S5, BMP6
+11 more
Copy number loss
not provided
GPathogenic
BLOC1S5
Copy number loss
Hermansky-Pudlak syndrome
GPathogenic
ADTRP, ATXN1
+95 more
Copy number gain
not provided
GPathogenic
BLOC1S5, BMP6
+23 more
Copy number loss
not provided
GPathogenic
BLOC1S5, BMP6
+17 more
Copy number loss
not provided
GPathogenic
BLOC1S5, BMP6
+38 more
Copy number gain
not provided
GLikely pathogenic
ADTRP, ATXN1
+93 more
Copy number gain
not provided
GPathogenic
ADTRP, BLOC1S5
+66 more
Copy number gain
not provided
GPathogenic
ADTRP, ATXN1
+95 more
Duplication
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
STMND1, SYCP2L
+95 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BMP6
+60 more
Copy number loss
See cases
GPathogenic
ADTRP, ATXN1
+51 more
Copy number loss
See cases
GPathogenic
ADTRP, BLOC1S5
+612 more
Copy number loss
See cases
GPathogenic
LOC129995778, LOC129995779
+559 more
Copy number gain
See cases
GLikely pathogenic
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
LOC129995681, LOC129995682
+643 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
SLC35B3, SMIM13
+510 more
Copy number gain
See cases
GLikely pathogenic
ADTRP, ATXN1
+779 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+437 more
Copy number gain
See cases
GPathogenic
LOC129995677, LOC129995678
+331 more
Copy number loss
See cases
GPathogenic
LOC129995802, LOC129995803
+573 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+159 more
Copy number loss
See cases
GPathogenic
LOC123575663, LOC123575664
+433 more
Copy number loss
See cases
GPathogenic
ADTRP, BLOC1S5
+537 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+825 more
Copy number gain
See cases
GPathogenic
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