Related gene-specific medical variations for Gene (Select 9256) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183871	NM_004758.4(TSPOAP1):c.575G>A (p.Ser192Asn)	TSPOAP1, TSPOAP1-AS1 (S192N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2575977	NM_004758.4(TSPOAP1):c.2277del (p.Ser759fs)	TSPOAP1 (S699fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2574616	NM_004758.4(TSPOAP1):c.538del (p.Ala180fs)	TSPOAP1, TSPOAP1-AS1 (A180fs)	Deletion (frameshift variant)	Dystonia 22, juvenile-onset	GPathogenic
Select item 2500157	NM_004758.4(TSPOAP1):c.25C>T (p.Arg9Trp)	LOC130061278, TSPOAP1 +1 more (R9W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2498299	NM_004758.4(TSPOAP1):c.1567C>T (p.Gln523Ter)	TSPOAP1 (Q463* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2359187	NM_004758.4(TSPOAP1):c.348G>A (p.Met116Ile)	TSPOAP1, TSPOAP1-AS1 (M116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342551	NM_004758.4(TSPOAP1):c.2179C>G (p.Leu727Val)	TSPOAP1 (L667V +1 more)	Single nucleotide variant (missense variant)	TSPOAP1-related Dystonia	GUncertain significance
Select item 714860	NM_004758.4(TSPOAP1):c.644G>T (p.Arg215Leu)	TSPOAP1, TSPOAP1-AS1 (R215L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 402438	NM_004758.4(TSPOAP1):c.236G>A (p.Gly79Glu)	LOC130061277, TSPOAP1 +1 more (G79E)	Single nucleotide variant (missense variant)	not specified	GBenign