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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADTRP, ATXN1
+823 more
Copy number gain
See cases
GPathogenic
LOC129995555, LOC129995556
+641 more
Copy number gain
See cases
GPathogenic
LOC129995829, LOC129995830
+777 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+610 more
Copy number loss
See cases
GPathogenic
LOC129995745, LOC129995746
+557 more
Copy number gain
See cases
GLikely pathogenic
ANKRD66, C6orf201
+2580 more
Copy number gain
See cases
GPathogenic
LOC132090751, LOC132090752
+508 more
Copy number gain
See cases
GLikely pathogenic
LOC132089486, LOC132089487
+435 more
Copy number gain
See cases
GPathogenic
SERPINB9-AS1, SLC22A23
+571 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+431 more
Copy number loss
See cases
GPathogenic
LOC126859578, LOC126859579
+536 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
LOC129995677, LOC129995678
+331 more
Copy number loss
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+159 more
Copy number loss
See cases
GPathogenic
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
(E104G +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GLikely benign
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
(Q72fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Hermansky-Pudlak syndrome
+1 more
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+1 more
Single nucleotide variant
(splice acceptor variant)
BLOC1S5-related disorder
GLikely pathogenic
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
(R95G +1 more)
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
(E13K +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
(K3N +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+1 more
(M1V)
Single nucleotide variant
(missense variant +2 more)
BLOC1S5-related disorder
GLikely benign
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
(T57I)
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
(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
(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
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
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
(M1R)
Single nucleotide variant
(non-coding transcript variant +3 more)
Hermansky-Pudlak syndrome 11
GPathogenic
ADTRP, BLOC1S5
+73 more
Copy number gain
not provided
GPathogenic
ADTRP, ATXN1
+89 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BMP6
+7 more
Copy number gain
not provided
GUncertain significance
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
TAAR8, TAAR9
+1028 more
Copy number gain
See cases
GPathogenic
VPS52, VTA1
+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
BLOC1S5
Deletion
Hermansky-Pudlak syndrome 11
GPathogenic
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