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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(L602R +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
GPathogenic
SLC36A1, FAT2
(Q2992H)
Single nucleotide variant
(missense variant)
not specified
GBenign
NUP98
(S1598P +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
NBEA
(R2866W +3 more)
Single nucleotide variant
(missense variant)
typical paroxysmal kinesigenic dyskinesia
GPathogenic
GNB4
(Q220R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate F
GLikely pathogenic
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