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Links from Gene

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSPOAP1, TSPOAP1-AS1
(S192N)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
TSPOAP1, TSPOAP1-AS1
(A180fs)
Deletion
(frameshift variant)
Dystonia 22, juvenile-onset
GPathogenic
SUPT4H1, TSPOAP1-AS1
(D9G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
SUPT4H1, TSPOAP1-AS1
(K81N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUPT4H1, TSPOAP1-AS1
(S103I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC130061278, TSPOAP1
+1 more
(R9W)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
TSPOAP1, TSPOAP1-AS1
(M116I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUPT4H1, TSPOAP1-AS1
(A86V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TSPOAP1, TSPOAP1-AS1
(R215L)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
LOC130061277, TSPOAP1
+1 more
(G79E)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
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