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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADTRP, ATXN1
+824 more
Copy number gain
See cases
GPathogenic
LOC129995709, LOC129995710
+642 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+778 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+611 more
Copy number loss
See cases
GPathogenic
LINC01622, LINC02521
+558 more
Copy number gain
See cases
GLikely pathogenic
HCG26, HCG27
+2581 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+346 more
Copy number loss
See cases
GPathogenic
LOC129995671, LOC129995672
+509 more
Copy number gain
See cases
GLikely pathogenic
LOC129995581, LOC129995582
+436 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+572 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+432 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
F13A1, LOC101928004
+19 more
Copy number gain
See cases
GUncertain significance
LOC129995692, LOC129995693
+6 more
Copy number loss
See cases
GBenign
LY86, LY86-AS1
(G3C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LY86, LY86-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LY86, LY86-AS1
(G37S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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